Incidental Mutation 'R0490:Mamdc4'
| ID |
43420 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mamdc4
|
| Ensembl Gene |
ENSMUSG00000026941 |
| Gene Name |
MAM domain containing 4 |
| Synonyms |
LOC381352 |
| MMRRC Submission |
038688-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R0490 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25453124-25461328 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 25453593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 1196
(R1196K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092735
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015236]
[ENSMUST00000095117]
[ENSMUST00000114223]
|
| AlphaFold |
A2AJA7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015236
|
| SMART Domains |
Protein: ENSMUSP00000015236
Gene: ENSMUSG00000015092
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MBF1
|
4 |
73 |
4.6e-29 |
PFAM |
|
HTH_XRE
|
80 |
135 |
1.02e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095117
AA Change: R1196K
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000092735
Gene: ENSMUSG00000026941
AA Change: R1196K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
LDLa
|
32 |
58 |
7.33e-1 |
SMART |
|
MAM
|
66 |
227 |
3.56e-52 |
SMART |
|
LDLa
|
233 |
272 |
3.5e-9 |
SMART |
|
MAM
|
254 |
430 |
3.87e-53 |
SMART |
|
LDLa
|
461 |
497 |
2.63e-4 |
SMART |
|
MAM
|
493 |
653 |
5.33e-5 |
SMART |
|
MAM
|
660 |
819 |
3.68e-68 |
SMART |
|
MAM
|
820 |
979 |
1.07e-28 |
SMART |
|
MAM
|
980 |
1148 |
2.07e-62 |
SMART |
|
transmembrane domain
|
1165 |
1187 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000114223
AA Change: R1192K
|
| SMART Domains |
Protein: ENSMUSP00000109861
Gene: ENSMUSG00000026941
AA Change: R1192K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
LDLa
|
28 |
54 |
7.33e-1 |
SMART |
|
MAM
|
62 |
223 |
3.56e-52 |
SMART |
|
LDLa
|
229 |
268 |
3.5e-9 |
SMART |
|
MAM
|
250 |
426 |
3.87e-53 |
SMART |
|
LDLa
|
457 |
493 |
2.63e-4 |
SMART |
|
MAM
|
489 |
649 |
5.33e-5 |
SMART |
|
MAM
|
656 |
815 |
3.68e-68 |
SMART |
|
MAM
|
816 |
975 |
1.07e-28 |
SMART |
|
MAM
|
976 |
1144 |
2.07e-62 |
SMART |
|
transmembrane domain
|
1161 |
1183 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135288
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142288
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144395
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000152237
AA Change: R1093K
|
| SMART Domains |
Protein: ENSMUSP00000119789
Gene: ENSMUSG00000026941
AA Change: R1093K
| Domain | Start | End | E-Value | Type |
|---|
|
LDLa
|
9 |
35 |
7.33e-1 |
SMART |
|
MAM
|
43 |
204 |
3.56e-52 |
SMART |
|
LDLa
|
210 |
249 |
3.5e-9 |
SMART |
|
MAM
|
231 |
407 |
3.87e-53 |
SMART |
|
LDLa
|
438 |
474 |
2.63e-4 |
SMART |
|
MAM
|
558 |
717 |
2.27e-68 |
SMART |
|
MAM
|
718 |
877 |
1.07e-28 |
SMART |
|
MAM
|
878 |
1046 |
2.07e-62 |
SMART |
|
transmembrane domain
|
1063 |
1085 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153008
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152124
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.2%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
T |
A |
10: 29,103,338 (GRCm39) |
Y640N |
probably damaging |
Het |
| Adamts9 |
T |
A |
6: 92,849,847 (GRCm39) |
Q402L |
probably benign |
Het |
| Als2cl |
A |
G |
9: 110,724,414 (GRCm39) |
T750A |
probably benign |
Het |
| Ank1 |
C |
A |
8: 23,597,890 (GRCm39) |
|
probably benign |
Het |
| Ap4e1 |
T |
A |
2: 126,888,106 (GRCm39) |
N404K |
probably damaging |
Het |
| Atf7ip |
G |
T |
6: 136,586,190 (GRCm39) |
|
probably benign |
Het |
| Bean1 |
A |
T |
8: 104,941,660 (GRCm39) |
T169S |
possibly damaging |
Het |
| Bod1l |
G |
T |
5: 41,979,235 (GRCm39) |
T693N |
probably damaging |
Het |
| Ccdc81 |
A |
T |
7: 89,536,970 (GRCm39) |
V226D |
probably benign |
Het |
| Cd48 |
A |
G |
1: 171,532,445 (GRCm39) |
*241W |
probably null |
Het |
| Cdon |
C |
A |
9: 35,363,978 (GRCm39) |
S32Y |
probably damaging |
Het |
| Cers3 |
A |
G |
7: 66,423,438 (GRCm39) |
S128G |
possibly damaging |
Het |
| Cntn6 |
T |
C |
6: 104,810,879 (GRCm39) |
V641A |
possibly damaging |
Het |
| Col6a4 |
G |
A |
9: 105,890,969 (GRCm39) |
T1775I |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,919,393 (GRCm39) |
V1122A |
probably benign |
Het |
| Dst |
G |
T |
1: 34,346,449 (GRCm39) |
G5102* |
probably null |
Het |
| Dvl3 |
C |
T |
16: 20,346,173 (GRCm39) |
|
probably benign |
Het |
| Epha5 |
G |
T |
5: 84,255,833 (GRCm39) |
|
probably benign |
Het |
| Fscb |
G |
A |
12: 64,519,661 (GRCm39) |
P602S |
unknown |
Het |
| Fxn |
A |
G |
19: 24,254,543 (GRCm39) |
|
probably null |
Het |
| Gipc2 |
A |
G |
3: 151,808,291 (GRCm39) |
L254P |
possibly damaging |
Het |
| Gm973 |
C |
T |
1: 59,597,393 (GRCm39) |
|
probably benign |
Het |
| Gng8 |
A |
G |
7: 16,628,908 (GRCm39) |
T14A |
probably benign |
Het |
| Gsdmc3 |
C |
T |
15: 63,732,099 (GRCm39) |
G309D |
possibly damaging |
Het |
| Gsr |
T |
A |
8: 34,161,540 (GRCm39) |
|
probably benign |
Het |
| Gtdc1 |
A |
T |
2: 44,525,052 (GRCm39) |
D152E |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,392,281 (GRCm39) |
D4063G |
probably damaging |
Het |
| Hsdl2 |
C |
T |
4: 59,612,814 (GRCm39) |
|
probably benign |
Het |
| Iqgap3 |
T |
C |
3: 88,021,363 (GRCm39) |
|
probably benign |
Het |
| Kcnj10 |
A |
G |
1: 172,197,019 (GRCm39) |
T178A |
probably damaging |
Het |
| Lama5 |
T |
A |
2: 179,821,962 (GRCm39) |
I2958F |
possibly damaging |
Het |
| Lnx1 |
T |
A |
5: 74,781,008 (GRCm39) |
|
probably null |
Het |
| Lpl |
A |
G |
8: 69,349,343 (GRCm39) |
R290G |
probably damaging |
Het |
| Mogat2 |
T |
C |
7: 98,872,351 (GRCm39) |
S167G |
probably benign |
Het |
| Nek8 |
T |
A |
11: 78,058,555 (GRCm39) |
I582F |
probably benign |
Het |
| Notch4 |
T |
A |
17: 34,801,864 (GRCm39) |
D1237E |
probably damaging |
Het |
| Or2y8 |
A |
G |
11: 52,035,493 (GRCm39) |
I288T |
probably damaging |
Het |
| Or5b104 |
A |
G |
19: 13,072,176 (GRCm39) |
Y279H |
probably damaging |
Het |
| Or5b119 |
G |
A |
19: 13,456,857 (GRCm39) |
A235V |
probably damaging |
Het |
| Or9i14 |
A |
G |
19: 13,792,219 (GRCm39) |
L245P |
probably damaging |
Het |
| Pcdhb8 |
T |
C |
18: 37,489,833 (GRCm39) |
S504P |
probably damaging |
Het |
| Pigs |
T |
C |
11: 78,226,451 (GRCm39) |
S223P |
probably damaging |
Het |
| Prkch |
A |
G |
12: 73,806,450 (GRCm39) |
I566V |
probably damaging |
Het |
| Ptpn22 |
T |
C |
3: 103,793,495 (GRCm39) |
S549P |
probably damaging |
Het |
| Rita1 |
A |
T |
5: 120,749,630 (GRCm39) |
F28I |
probably damaging |
Het |
| Rpgrip1l |
A |
T |
8: 92,026,473 (GRCm39) |
|
probably benign |
Het |
| Slc1a1 |
A |
G |
19: 28,874,931 (GRCm39) |
K170E |
probably benign |
Het |
| Spag17 |
C |
T |
3: 99,889,727 (GRCm39) |
R199W |
probably damaging |
Het |
| Tas2r116 |
T |
C |
6: 132,832,984 (GRCm39) |
V195A |
probably benign |
Het |
| Trav7d-3 |
C |
A |
14: 52,982,007 (GRCm39) |
|
probably benign |
Het |
| Trim15 |
T |
C |
17: 37,177,247 (GRCm39) |
K138E |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,539,174 (GRCm39) |
H34604L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,577,876 (GRCm39) |
R16012K |
probably damaging |
Het |
| Zfp948 |
T |
C |
17: 21,808,296 (GRCm39) |
V496A |
probably benign |
Het |
| Zfy2 |
A |
T |
Y: 2,106,620 (GRCm39) |
S671R |
possibly damaging |
Het |
| Zswim1 |
T |
A |
2: 164,667,203 (GRCm39) |
Y152N |
possibly damaging |
Het |
|
| Other mutations in Mamdc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01304:Mamdc4
|
APN |
2 |
25,453,588 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01994:Mamdc4
|
APN |
2 |
25,458,546 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02072:Mamdc4
|
APN |
2 |
25,458,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02193:Mamdc4
|
APN |
2 |
25,454,458 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02673:Mamdc4
|
APN |
2 |
25,460,066 (GRCm39) |
missense |
probably benign |
|
|
IGL03048:Mamdc4
|
UTSW |
2 |
25,459,084 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0135:Mamdc4
|
UTSW |
2 |
25,456,932 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0481:Mamdc4
|
UTSW |
2 |
25,461,228 (GRCm39) |
start codon destroyed |
probably null |
0.08 |
|
R0609:Mamdc4
|
UTSW |
2 |
25,454,205 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0729:Mamdc4
|
UTSW |
2 |
25,460,048 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1365:Mamdc4
|
UTSW |
2 |
25,456,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1533:Mamdc4
|
UTSW |
2 |
25,459,759 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1671:Mamdc4
|
UTSW |
2 |
25,458,235 (GRCm39) |
nonsense |
probably null |
|
|
R1789:Mamdc4
|
UTSW |
2 |
25,457,634 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2002:Mamdc4
|
UTSW |
2 |
25,457,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2013:Mamdc4
|
UTSW |
2 |
25,453,584 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2014:Mamdc4
|
UTSW |
2 |
25,453,584 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2056:Mamdc4
|
UTSW |
2 |
25,454,180 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2109:Mamdc4
|
UTSW |
2 |
25,459,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2128:Mamdc4
|
UTSW |
2 |
25,459,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2185:Mamdc4
|
UTSW |
2 |
25,459,704 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2473:Mamdc4
|
UTSW |
2 |
25,456,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2496:Mamdc4
|
UTSW |
2 |
25,455,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3818:Mamdc4
|
UTSW |
2 |
25,455,785 (GRCm39) |
missense |
probably benign |
|
|
R4591:Mamdc4
|
UTSW |
2 |
25,454,609 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4829:Mamdc4
|
UTSW |
2 |
25,455,368 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4898:Mamdc4
|
UTSW |
2 |
25,460,035 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5209:Mamdc4
|
UTSW |
2 |
25,456,935 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5268:Mamdc4
|
UTSW |
2 |
25,454,702 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5490:Mamdc4
|
UTSW |
2 |
25,455,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6152:Mamdc4
|
UTSW |
2 |
25,457,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6234:Mamdc4
|
UTSW |
2 |
25,460,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6681:Mamdc4
|
UTSW |
2 |
25,457,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6774:Mamdc4
|
UTSW |
2 |
25,456,948 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7178:Mamdc4
|
UTSW |
2 |
25,458,977 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7225:Mamdc4
|
UTSW |
2 |
25,455,558 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7451:Mamdc4
|
UTSW |
2 |
25,454,473 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7520:Mamdc4
|
UTSW |
2 |
25,455,360 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7627:Mamdc4
|
UTSW |
2 |
25,458,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7875:Mamdc4
|
UTSW |
2 |
25,458,677 (GRCm39) |
nonsense |
probably null |
|
|
R8041:Mamdc4
|
UTSW |
2 |
25,454,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8144:Mamdc4
|
UTSW |
2 |
25,457,019 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8201:Mamdc4
|
UTSW |
2 |
25,456,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8213:Mamdc4
|
UTSW |
2 |
25,456,368 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8531:Mamdc4
|
UTSW |
2 |
25,457,730 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8810:Mamdc4
|
UTSW |
2 |
25,458,501 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9069:Mamdc4
|
UTSW |
2 |
25,453,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9440:Mamdc4
|
UTSW |
2 |
25,455,600 (GRCm39) |
missense |
probably benign |
|
|
R9446:Mamdc4
|
UTSW |
2 |
25,453,645 (GRCm39) |
missense |
probably benign |
|
|
R9486:Mamdc4
|
UTSW |
2 |
25,455,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9551:Mamdc4
|
UTSW |
2 |
25,460,035 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9626:Mamdc4
|
UTSW |
2 |
25,458,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Mamdc4
|
UTSW |
2 |
25,460,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Mamdc4
|
UTSW |
2 |
25,454,698 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATGCTGCAAGAGATGCCATGTC -3'
(R):5'- GGAACTGCCAGGTTACACCAGAAAC -3'
Sequencing Primer
(F):5'- AGATGCCATGTCAGGCCAG -3'
(R):5'- AGGCTCACTCCTTGACAGTAATC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation