Incidental Mutation 'R2112:Madd'
| ID |
232629 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Madd
|
| Ensembl Gene |
ENSMUSG00000040687 |
| Gene Name |
MAP-kinase activating death domain |
| Synonyms |
Rab3 GEP, 9630059K23Rik |
| MMRRC Submission |
040116-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2112 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
90967705-91013404 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91007321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 264
(K264E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107001
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066420]
[ENSMUST00000066473]
[ENSMUST00000075269]
[ENSMUST00000077941]
[ENSMUST00000099723]
[ENSMUST00000099725]
[ENSMUST00000111369]
[ENSMUST00000111375]
[ENSMUST00000111370]
[ENSMUST00000111371]
[ENSMUST00000111376]
[ENSMUST00000111381]
[ENSMUST00000111372]
[ENSMUST00000111373]
[ENSMUST00000140600]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066420
AA Change: K264E
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000067210
Gene: ENSMUSG00000040687
AA Change: K264E
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
7 |
97 |
7.11e-26 |
SMART |
|
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
|
DENN
|
171 |
401 |
2.19e-67 |
SMART |
|
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
|
dDENN
|
484 |
554 |
6.71e-13 |
SMART |
|
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
789 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
908 |
918 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066473
AA Change: K264E
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000069350
Gene: ENSMUSG00000040687
AA Change: K264E
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
7 |
97 |
7.11e-26 |
SMART |
|
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
|
DENN
|
171 |
401 |
2.19e-67 |
SMART |
|
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
|
dDENN
|
484 |
554 |
6.71e-13 |
SMART |
|
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
789 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
908 |
918 |
N/A |
INTRINSIC |
|
low complexity region
|
1334 |
1348 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075269
AA Change: K264E
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000074746
Gene: ENSMUSG00000040687
AA Change: K264E
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
7 |
97 |
7.11e-26 |
SMART |
|
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
|
DENN
|
171 |
401 |
2.19e-67 |
SMART |
|
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
|
dDENN
|
484 |
554 |
6.71e-13 |
SMART |
|
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
719 |
N/A |
INTRINSIC |
|
low complexity region
|
762 |
770 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
820 |
N/A |
INTRINSIC |
|
low complexity region
|
889 |
899 |
N/A |
INTRINSIC |
|
low complexity region
|
1276 |
1290 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077941
AA Change: K264E
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000077094
Gene: ENSMUSG00000040687
AA Change: K264E
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
7 |
97 |
7.11e-26 |
SMART |
|
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
|
DENN
|
171 |
401 |
2.19e-67 |
SMART |
|
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
|
dDENN
|
484 |
554 |
6.71e-13 |
SMART |
|
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
789 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
928 |
938 |
N/A |
INTRINSIC |
|
low complexity region
|
1354 |
1368 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099723
AA Change: K264E
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000097311
Gene: ENSMUSG00000040687
AA Change: K264E
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
7 |
97 |
7.11e-26 |
SMART |
|
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
|
DENN
|
171 |
401 |
2.19e-67 |
SMART |
|
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
|
dDENN
|
484 |
554 |
6.71e-13 |
SMART |
|
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
789 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
928 |
938 |
N/A |
INTRINSIC |
|
low complexity region
|
1189 |
1203 |
N/A |
INTRINSIC |
|
low complexity region
|
1353 |
1367 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099725
AA Change: K264E
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000097313
Gene: ENSMUSG00000040687
AA Change: K264E
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
7 |
97 |
7.11e-26 |
SMART |
|
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
|
DENN
|
171 |
401 |
2.19e-67 |
SMART |
|
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
|
dDENN
|
484 |
554 |
6.71e-13 |
SMART |
|
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
789 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
908 |
918 |
N/A |
INTRINSIC |
|
low complexity region
|
1334 |
1348 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111369
AA Change: K264E
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107000
Gene: ENSMUSG00000040687
AA Change: K264E
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
7 |
97 |
7.11e-26 |
SMART |
|
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
|
DENN
|
171 |
401 |
2.19e-67 |
SMART |
|
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
|
dDENN
|
484 |
554 |
6.71e-13 |
SMART |
|
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
773 |
796 |
N/A |
INTRINSIC |
|
low complexity region
|
865 |
875 |
N/A |
INTRINSIC |
|
low complexity region
|
1108 |
1122 |
N/A |
INTRINSIC |
|
low complexity region
|
1251 |
1265 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111375
AA Change: K264E
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000107006
Gene: ENSMUSG00000040687
AA Change: K264E
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
7 |
97 |
7.11e-26 |
SMART |
|
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
|
DENN
|
171 |
401 |
2.19e-67 |
SMART |
|
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
|
dDENN
|
484 |
554 |
6.71e-13 |
SMART |
|
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
773 |
796 |
N/A |
INTRINSIC |
|
low complexity region
|
885 |
895 |
N/A |
INTRINSIC |
|
low complexity region
|
1272 |
1286 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111370
AA Change: K264E
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107001
Gene: ENSMUSG00000040687
AA Change: K264E
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
7 |
97 |
7.11e-26 |
SMART |
|
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
|
DENN
|
171 |
401 |
2.19e-67 |
SMART |
|
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
|
dDENN
|
484 |
554 |
6.71e-13 |
SMART |
|
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
789 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
908 |
918 |
N/A |
INTRINSIC |
|
low complexity region
|
1334 |
1348 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111371
AA Change: K264E
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000107002
Gene: ENSMUSG00000040687
AA Change: K264E
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
7 |
97 |
7.11e-26 |
SMART |
|
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
|
DENN
|
171 |
401 |
2.19e-67 |
SMART |
|
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
|
dDENN
|
484 |
554 |
6.71e-13 |
SMART |
|
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
719 |
N/A |
INTRINSIC |
|
low complexity region
|
762 |
770 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
820 |
N/A |
INTRINSIC |
|
low complexity region
|
909 |
919 |
N/A |
INTRINSIC |
|
low complexity region
|
1296 |
1310 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111376
AA Change: K264E
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000107007
Gene: ENSMUSG00000040687
AA Change: K264E
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
7 |
97 |
7.11e-26 |
SMART |
|
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
|
DENN
|
171 |
401 |
2.19e-67 |
SMART |
|
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
|
dDENN
|
484 |
554 |
6.71e-13 |
SMART |
|
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
789 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
908 |
918 |
N/A |
INTRINSIC |
|
low complexity region
|
1151 |
1162 |
N/A |
INTRINSIC |
|
low complexity region
|
1312 |
1326 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111381
AA Change: K264E
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000107012
Gene: ENSMUSG00000040687
AA Change: K264E
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
7 |
97 |
7.11e-26 |
SMART |
|
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
|
DENN
|
171 |
401 |
2.19e-67 |
SMART |
|
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
|
dDENN
|
484 |
554 |
6.71e-13 |
SMART |
|
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
789 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
928 |
938 |
N/A |
INTRINSIC |
|
low complexity region
|
1315 |
1329 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111372
AA Change: K264E
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000107003
Gene: ENSMUSG00000040687
AA Change: K264E
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
7 |
97 |
7.11e-26 |
SMART |
|
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
|
DENN
|
171 |
401 |
2.19e-67 |
SMART |
|
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
|
dDENN
|
484 |
554 |
6.71e-13 |
SMART |
|
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
789 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
908 |
918 |
N/A |
INTRINSIC |
|
low complexity region
|
1295 |
1309 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111373
AA Change: K264E
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000107004
Gene: ENSMUSG00000040687
AA Change: K264E
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
7 |
97 |
2.9e-29 |
SMART |
|
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
|
DENN
|
171 |
401 |
8.7e-71 |
SMART |
|
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
|
dDENN
|
484 |
554 |
2.8e-16 |
SMART |
|
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
773 |
796 |
N/A |
INTRINSIC |
|
low complexity region
|
865 |
875 |
N/A |
INTRINSIC |
|
low complexity region
|
1108 |
1122 |
N/A |
INTRINSIC |
|
low complexity region
|
1251 |
1265 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135715
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150461
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125227
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125321
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130395
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150517
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140600
|
| SMART Domains |
Protein: ENSMUSP00000117657
Gene: ENSMUSG00000040687
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DENN
|
1 |
28 |
7e-10 |
BLAST |
|
low complexity region
|
39 |
55 |
N/A |
INTRINSIC |
|
dDENN
|
111 |
165 |
9.37e-1 |
SMART |
|
low complexity region
|
230 |
250 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154028
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153688
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die shortly after birth due to respiratory failure, are hyporesponsive to tactile stimuli, and exhibit defects in neurotransmitter release with impaired synaptic vesicle trafficking and depletion of synaptic vesicles at the neuromuscular junction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
A |
G |
5: 121,638,777 (GRCm39) |
|
probably benign |
Het |
| Adprhl1 |
A |
G |
8: 13,298,694 (GRCm39) |
Y79H |
probably damaging |
Het |
| Ambra1 |
T |
A |
2: 91,706,132 (GRCm39) |
W746R |
probably damaging |
Het |
| Ankhd1 |
A |
T |
18: 36,774,679 (GRCm39) |
K1420I |
probably damaging |
Het |
| Ap1b1 |
T |
C |
11: 4,965,613 (GRCm39) |
F51L |
probably damaging |
Het |
| Arhgap24 |
A |
C |
5: 103,040,366 (GRCm39) |
R434S |
probably damaging |
Het |
| Arhgap29 |
T |
C |
3: 121,805,210 (GRCm39) |
L525P |
probably benign |
Het |
| Arpc1b |
T |
C |
5: 145,060,579 (GRCm39) |
Y124H |
probably damaging |
Het |
| Arr3 |
T |
A |
X: 99,658,247 (GRCm39) |
F269L |
possibly damaging |
Het |
| Atp11b |
G |
T |
3: 35,891,677 (GRCm39) |
V830F |
probably damaging |
Het |
| Ccdc71l |
T |
A |
12: 32,429,229 (GRCm39) |
F83I |
probably damaging |
Het |
| Cdh23 |
G |
T |
10: 60,141,362 (GRCm39) |
F3127L |
probably damaging |
Het |
| Cfap251 |
G |
A |
5: 123,392,438 (GRCm39) |
|
probably benign |
Het |
| Cldn15 |
T |
A |
5: 136,997,016 (GRCm39) |
M19K |
possibly damaging |
Het |
| Cog4 |
A |
G |
8: 111,585,214 (GRCm39) |
Y292C |
possibly damaging |
Het |
| Col12a1 |
A |
G |
9: 79,551,181 (GRCm39) |
V2145A |
possibly damaging |
Het |
| Col5a3 |
T |
C |
9: 20,721,073 (GRCm39) |
I110V |
unknown |
Het |
| Cps1 |
T |
A |
1: 67,216,139 (GRCm39) |
D821E |
probably benign |
Het |
| Crnkl1 |
A |
T |
2: 145,772,617 (GRCm39) |
Y153* |
probably null |
Het |
| Dock10 |
T |
A |
1: 80,483,359 (GRCm39) |
K2082M |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,483,360 (GRCm39) |
K2083E |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,208,259 (GRCm39) |
S737P |
probably damaging |
Het |
| Dthd1 |
T |
C |
5: 63,000,222 (GRCm39) |
S515P |
probably damaging |
Het |
| Dthd1 |
T |
C |
5: 62,979,251 (GRCm39) |
Y304H |
probably damaging |
Het |
| Etf1 |
A |
T |
18: 35,042,154 (GRCm39) |
|
probably null |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Galt |
A |
G |
4: 41,758,245 (GRCm39) |
T337A |
probably benign |
Het |
| Gbp4 |
A |
G |
5: 105,283,042 (GRCm39) |
L76P |
possibly damaging |
Het |
| Gcfc2 |
C |
A |
6: 81,900,759 (GRCm39) |
D24E |
probably benign |
Het |
| Gigyf2 |
A |
G |
1: 87,368,452 (GRCm39) |
H1044R |
probably damaging |
Het |
| Glg1 |
T |
C |
8: 111,919,178 (GRCm39) |
D315G |
probably damaging |
Het |
| Gm4787 |
C |
T |
12: 81,424,607 (GRCm39) |
C517Y |
probably damaging |
Het |
| Gnl3l |
A |
G |
X: 149,780,290 (GRCm39) |
S217P |
probably damaging |
Het |
| Gpr37 |
T |
C |
6: 25,669,380 (GRCm39) |
Y488C |
possibly damaging |
Het |
| Hap1 |
T |
C |
11: 100,244,825 (GRCm39) |
D240G |
probably benign |
Het |
| Hhla1 |
C |
G |
15: 65,808,232 (GRCm39) |
W271S |
probably benign |
Het |
| Hmgxb3 |
T |
C |
18: 61,288,458 (GRCm39) |
R470G |
possibly damaging |
Het |
| Inpp5a |
A |
G |
7: 139,154,877 (GRCm39) |
D332G |
probably damaging |
Het |
| Insr |
A |
G |
8: 3,219,748 (GRCm39) |
S925P |
probably benign |
Het |
| Isoc2b |
T |
A |
7: 4,852,474 (GRCm39) |
D171V |
probably damaging |
Het |
| Kif20b |
T |
C |
19: 34,909,132 (GRCm39) |
I223T |
probably benign |
Het |
| Krt6b |
T |
C |
15: 101,586,999 (GRCm39) |
T258A |
possibly damaging |
Het |
| Lipo4 |
G |
A |
19: 33,488,926 (GRCm39) |
P219L |
probably benign |
Het |
| Luc7l |
T |
C |
17: 26,474,101 (GRCm39) |
|
probably null |
Het |
| Mcf2l |
A |
T |
8: 13,051,867 (GRCm39) |
K433N |
probably damaging |
Het |
| Mob3b |
A |
T |
4: 35,083,795 (GRCm39) |
N131K |
probably damaging |
Het |
| Mtus1 |
G |
T |
8: 41,475,608 (GRCm39) |
P819T |
probably damaging |
Het |
| Myo15a |
T |
C |
11: 60,384,994 (GRCm39) |
F1699L |
probably damaging |
Het |
| Nav1 |
C |
T |
1: 135,376,742 (GRCm39) |
R1694Q |
probably damaging |
Het |
| Neb |
G |
C |
2: 52,218,776 (GRCm39) |
T78S |
probably damaging |
Het |
| Nek2 |
T |
C |
1: 191,559,320 (GRCm39) |
V275A |
probably benign |
Het |
| Nfatc1 |
A |
T |
18: 80,678,879 (GRCm39) |
C836* |
probably null |
Het |
| Nos1 |
T |
C |
5: 118,074,636 (GRCm39) |
V1060A |
probably benign |
Het |
| Notch3 |
T |
A |
17: 32,363,584 (GRCm39) |
I1160F |
probably benign |
Het |
| Nox4 |
T |
C |
7: 87,021,216 (GRCm39) |
L476P |
probably damaging |
Het |
| Npc1 |
A |
T |
18: 12,346,529 (GRCm39) |
N222K |
possibly damaging |
Het |
| Nrn1l |
C |
A |
8: 106,621,378 (GRCm39) |
H109Q |
possibly damaging |
Het |
| Or4c11 |
T |
C |
2: 88,695,545 (GRCm39) |
S199P |
possibly damaging |
Het |
| Or4k15 |
G |
T |
14: 50,364,080 (GRCm39) |
L15F |
probably damaging |
Het |
| Or6d13 |
T |
C |
6: 116,517,611 (GRCm39) |
Y66H |
possibly damaging |
Het |
| Or7a41 |
T |
C |
10: 78,871,248 (GRCm39) |
L206P |
probably damaging |
Het |
| Or8g27 |
T |
C |
9: 39,129,075 (GRCm39) |
Y141H |
probably benign |
Het |
| Or8g33 |
C |
A |
9: 39,337,966 (GRCm39) |
V134L |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,256,360 (GRCm39) |
K627E |
probably damaging |
Het |
| Plch1 |
T |
A |
3: 63,630,227 (GRCm39) |
T514S |
probably damaging |
Het |
| Ppargc1b |
G |
A |
18: 61,444,321 (GRCm39) |
P297S |
probably benign |
Het |
| Ppig |
A |
G |
2: 69,580,451 (GRCm39) |
T662A |
unknown |
Het |
| Prdm2 |
A |
C |
4: 142,858,506 (GRCm39) |
S1595A |
probably benign |
Het |
| Ptpn5 |
T |
A |
7: 46,732,890 (GRCm39) |
T318S |
probably benign |
Het |
| Ralgps2 |
A |
G |
1: 156,660,278 (GRCm39) |
Y265H |
probably damaging |
Het |
| Seh1l |
T |
C |
18: 67,920,249 (GRCm39) |
I182T |
probably damaging |
Het |
| Slc12a6 |
T |
C |
2: 112,186,830 (GRCm39) |
I943T |
probably damaging |
Het |
| Slc5a5 |
A |
T |
8: 71,342,395 (GRCm39) |
|
probably null |
Het |
| Sparcl1 |
T |
A |
5: 104,236,289 (GRCm39) |
Q488L |
probably damaging |
Het |
| Sphkap |
T |
G |
1: 83,253,602 (GRCm39) |
K1382N |
probably benign |
Het |
| Sybu |
T |
C |
15: 44,536,731 (GRCm39) |
S532G |
probably benign |
Het |
| Syde2 |
G |
A |
3: 145,704,241 (GRCm39) |
G131S |
possibly damaging |
Het |
| Taok1 |
C |
T |
11: 77,462,472 (GRCm39) |
V206I |
probably benign |
Het |
| Tas1r2 |
G |
T |
4: 139,382,666 (GRCm39) |
M101I |
probably benign |
Het |
| Trpc6 |
C |
T |
9: 8,656,613 (GRCm39) |
T680I |
probably damaging |
Het |
| Trub1 |
T |
C |
19: 57,473,646 (GRCm39) |
|
probably null |
Het |
| Tspan1 |
G |
T |
4: 116,020,885 (GRCm39) |
|
probably null |
Het |
| Ttc28 |
G |
A |
5: 111,424,139 (GRCm39) |
E1438K |
probably damaging |
Het |
| Ubr3 |
A |
G |
2: 69,808,136 (GRCm39) |
T1206A |
possibly damaging |
Het |
| Ulbp3 |
C |
T |
10: 3,076,459 (GRCm39) |
|
noncoding transcript |
Het |
| Usp40 |
A |
G |
1: 87,877,936 (GRCm39) |
I1117T |
probably benign |
Het |
| Usp43 |
G |
T |
11: 67,812,536 (GRCm39) |
N113K |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,841,422 (GRCm39) |
D414V |
probably damaging |
Het |
| Vmn1r202 |
T |
A |
13: 22,685,904 (GRCm39) |
Y171F |
possibly damaging |
Het |
| Zfp142 |
A |
G |
1: 74,612,795 (GRCm39) |
S451P |
probably damaging |
Het |
| Zfp516 |
A |
G |
18: 82,975,536 (GRCm39) |
D578G |
probably damaging |
Het |
| Zfp90 |
G |
A |
8: 107,152,120 (GRCm39) |
C611Y |
probably damaging |
Het |
| Zfp954 |
A |
G |
7: 7,118,609 (GRCm39) |
C312R |
probably damaging |
Het |
| Zmym3 |
A |
T |
X: 100,450,993 (GRCm39) |
V1208D |
probably damaging |
Het |
|
| Other mutations in Madd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Madd
|
APN |
2 |
91,006,111 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00781:Madd
|
APN |
2 |
90,977,273 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00844:Madd
|
APN |
2 |
90,998,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00942:Madd
|
APN |
2 |
91,000,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01100:Madd
|
APN |
2 |
90,988,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01116:Madd
|
APN |
2 |
90,984,888 (GRCm39) |
splice site |
probably benign |
|
|
IGL01694:Madd
|
APN |
2 |
90,988,320 (GRCm39) |
splice site |
probably benign |
|
|
IGL01982:Madd
|
APN |
2 |
91,006,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02346:Madd
|
APN |
2 |
90,992,836 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02354:Madd
|
APN |
2 |
90,992,543 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02361:Madd
|
APN |
2 |
90,992,543 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02481:Madd
|
APN |
2 |
91,008,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02483:Madd
|
APN |
2 |
91,008,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02948:Madd
|
APN |
2 |
90,973,172 (GRCm39) |
missense |
probably benign |
|
|
IGL03338:Madd
|
APN |
2 |
90,992,507 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
BB005:Madd
|
UTSW |
2 |
91,007,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB015:Madd
|
UTSW |
2 |
91,007,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0026:Madd
|
UTSW |
2 |
91,006,053 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0026:Madd
|
UTSW |
2 |
91,006,053 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0027:Madd
|
UTSW |
2 |
90,982,894 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0085:Madd
|
UTSW |
2 |
90,993,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0577:Madd
|
UTSW |
2 |
90,968,740 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0587:Madd
|
UTSW |
2 |
90,977,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1112:Madd
|
UTSW |
2 |
90,973,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1722:Madd
|
UTSW |
2 |
90,997,982 (GRCm39) |
missense |
probably benign |
|
|
R1750:Madd
|
UTSW |
2 |
90,998,236 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2061:Madd
|
UTSW |
2 |
90,991,831 (GRCm39) |
intron |
probably benign |
|
|
R2114:Madd
|
UTSW |
2 |
90,994,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2140:Madd
|
UTSW |
2 |
90,982,854 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2276:Madd
|
UTSW |
2 |
90,974,028 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2277:Madd
|
UTSW |
2 |
90,974,028 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2279:Madd
|
UTSW |
2 |
90,974,028 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2424:Madd
|
UTSW |
2 |
90,996,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2904:Madd
|
UTSW |
2 |
91,006,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3122:Madd
|
UTSW |
2 |
91,006,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3836:Madd
|
UTSW |
2 |
90,984,988 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3979:Madd
|
UTSW |
2 |
91,007,173 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4151:Madd
|
UTSW |
2 |
90,973,428 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4233:Madd
|
UTSW |
2 |
91,008,581 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4236:Madd
|
UTSW |
2 |
90,997,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4299:Madd
|
UTSW |
2 |
91,000,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4334:Madd
|
UTSW |
2 |
90,970,917 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4413:Madd
|
UTSW |
2 |
90,997,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4595:Madd
|
UTSW |
2 |
90,998,009 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4694:Madd
|
UTSW |
2 |
90,990,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5410:Madd
|
UTSW |
2 |
90,984,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5490:Madd
|
UTSW |
2 |
91,000,980 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5560:Madd
|
UTSW |
2 |
90,993,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5661:Madd
|
UTSW |
2 |
90,984,778 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5710:Madd
|
UTSW |
2 |
90,984,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5730:Madd
|
UTSW |
2 |
90,988,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5759:Madd
|
UTSW |
2 |
90,992,420 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5768:Madd
|
UTSW |
2 |
90,998,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5822:Madd
|
UTSW |
2 |
90,982,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6125:Madd
|
UTSW |
2 |
90,982,797 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6151:Madd
|
UTSW |
2 |
90,995,802 (GRCm39) |
nonsense |
probably null |
|
|
R6229:Madd
|
UTSW |
2 |
90,974,015 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6230:Madd
|
UTSW |
2 |
90,973,866 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6245:Madd
|
UTSW |
2 |
91,008,449 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6323:Madd
|
UTSW |
2 |
90,991,783 (GRCm39) |
splice site |
probably null |
|
|
R6456:Madd
|
UTSW |
2 |
91,008,536 (GRCm39) |
missense |
probably benign |
|
|
R6473:Madd
|
UTSW |
2 |
90,997,404 (GRCm39) |
missense |
probably benign |
|
|
R6878:Madd
|
UTSW |
2 |
91,000,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7060:Madd
|
UTSW |
2 |
91,007,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7065:Madd
|
UTSW |
2 |
90,985,402 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7073:Madd
|
UTSW |
2 |
90,992,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7124:Madd
|
UTSW |
2 |
90,992,393 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7251:Madd
|
UTSW |
2 |
90,992,521 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7510:Madd
|
UTSW |
2 |
91,008,321 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7605:Madd
|
UTSW |
2 |
91,000,055 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7911:Madd
|
UTSW |
2 |
90,997,853 (GRCm39) |
missense |
probably null |
0.01 |
|
R7928:Madd
|
UTSW |
2 |
91,007,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7952:Madd
|
UTSW |
2 |
90,992,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8039:Madd
|
UTSW |
2 |
90,997,406 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8047:Madd
|
UTSW |
2 |
91,009,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8048:Madd
|
UTSW |
2 |
90,984,793 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8070:Madd
|
UTSW |
2 |
90,988,359 (GRCm39) |
nonsense |
probably null |
|
|
R8090:Madd
|
UTSW |
2 |
90,985,968 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8335:Madd
|
UTSW |
2 |
91,000,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8459:Madd
|
UTSW |
2 |
90,992,871 (GRCm39) |
missense |
probably benign |
|
|
R8678:Madd
|
UTSW |
2 |
91,006,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8920:Madd
|
UTSW |
2 |
91,007,168 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9003:Madd
|
UTSW |
2 |
90,988,359 (GRCm39) |
nonsense |
probably null |
|
|
R9102:Madd
|
UTSW |
2 |
90,988,404 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9154:Madd
|
UTSW |
2 |
90,998,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9242:Madd
|
UTSW |
2 |
90,973,949 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9277:Madd
|
UTSW |
2 |
91,006,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9394:Madd
|
UTSW |
2 |
91,000,199 (GRCm39) |
missense |
probably benign |
|
|
R9490:Madd
|
UTSW |
2 |
91,008,501 (GRCm39) |
missense |
probably benign |
|
|
R9499:Madd
|
UTSW |
2 |
91,000,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9551:Madd
|
UTSW |
2 |
91,000,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9553:Madd
|
UTSW |
2 |
91,008,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9599:Madd
|
UTSW |
2 |
91,006,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9695:Madd
|
UTSW |
2 |
90,992,929 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9729:Madd
|
UTSW |
2 |
91,000,544 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
X0067:Madd
|
UTSW |
2 |
90,982,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Madd
|
UTSW |
2 |
90,989,617 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Madd
|
UTSW |
2 |
90,973,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTGCTCCAACAGGATGC -3'
(R):5'- GACCTGGCAATACTCCTCTC -3'
Sequencing Primer
(F):5'- CTCCAACAGGATGCAGGTTAGC -3'
(R):5'- GGTATCAGCCGATAACACTTCTG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation