Incidental Mutation 'R8144:Mamdc4'
| ID |
632673 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mamdc4
|
| Ensembl Gene |
ENSMUSG00000026941 |
| Gene Name |
MAM domain containing 4 |
| Synonyms |
LOC381352 |
| MMRRC Submission |
067572-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R8144 (G1)
|
| Quality Score |
213.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25453124-25461328 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25457019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 590
(V590E)
|
| 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 damaging
Transcript: ENSMUST00000095117
AA Change: V590E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000092735
Gene: ENSMUSG00000026941
AA Change: V590E
| 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 |
possibly damaging
Transcript: ENSMUST00000114223
AA Change: V586E
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109861
Gene: ENSMUSG00000026941
AA Change: V586E
| 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 |
probably benign
Transcript: ENSMUST00000152237
|
| SMART Domains |
Protein: ENSMUSP00000119789
Gene: ENSMUSG00000026941
| 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 |
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.4%
- 10x: 98.0%
- 20x: 90.8%
|
| Validation Efficiency |
96% (50/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
C |
9: 57,166,388 (GRCm39) |
|
probably benign |
Het |
| A2ml1 |
T |
C |
6: 128,546,962 (GRCm39) |
D389G |
possibly damaging |
Het |
| Acy1 |
A |
T |
9: 106,313,319 (GRCm39) |
|
probably null |
Het |
| Adcy2 |
G |
A |
13: 68,882,754 (GRCm39) |
Q328* |
probably null |
Het |
| Arhgef40 |
T |
A |
14: 52,235,632 (GRCm39) |
V1171E |
probably damaging |
Het |
| Arrb1 |
G |
A |
7: 99,247,659 (GRCm39) |
|
probably null |
Het |
| Atxn1l |
G |
A |
8: 110,459,233 (GRCm39) |
A343V |
probably benign |
Het |
| C3 |
A |
T |
17: 57,533,276 (GRCm39) |
V109E |
probably damaging |
Het |
| Clptm1 |
A |
T |
7: 19,367,827 (GRCm39) |
V595E |
possibly damaging |
Het |
| Cpne6 |
T |
C |
14: 55,750,066 (GRCm39) |
C66R |
possibly damaging |
Het |
| Dhrs3 |
T |
C |
4: 144,646,474 (GRCm39) |
S175P |
probably damaging |
Het |
| Eif2b1 |
A |
T |
5: 124,711,208 (GRCm39) |
M187K |
probably damaging |
Het |
| Eln |
CTCCAGCTCCGAT |
C |
5: 134,758,003 (GRCm39) |
|
probably benign |
Het |
| Evc2 |
T |
C |
5: 37,537,911 (GRCm39) |
L533P |
probably damaging |
Het |
| Fam221b |
T |
G |
4: 43,665,465 (GRCm39) |
Q331P |
probably damaging |
Het |
| Fam221b |
G |
T |
4: 43,665,466 (GRCm39) |
Q331K |
probably benign |
Het |
| Golga3 |
T |
C |
5: 110,333,745 (GRCm39) |
V127A |
probably damaging |
Het |
| Itsn1 |
C |
T |
16: 91,708,893 (GRCm39) |
P1719L |
unknown |
Het |
| Lars1 |
T |
G |
18: 42,351,591 (GRCm39) |
H871P |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,702,037 (GRCm39) |
I457T |
probably damaging |
Het |
| Morc2a |
T |
C |
11: 3,634,039 (GRCm39) |
V717A |
probably benign |
Het |
| Or1p1c |
C |
A |
11: 74,160,384 (GRCm39) |
H56Q |
probably damaging |
Het |
| Or8d2b |
A |
T |
9: 38,788,662 (GRCm39) |
L63F |
probably damaging |
Het |
| Pank4 |
A |
T |
4: 155,054,537 (GRCm39) |
Q170L |
probably benign |
Het |
| Pde4dip |
G |
T |
3: 97,622,742 (GRCm39) |
A1489D |
probably damaging |
Het |
| Pde8b |
A |
T |
13: 95,359,278 (GRCm39) |
I15N |
probably damaging |
Het |
| Pex16 |
A |
C |
2: 92,205,985 (GRCm39) |
E26A |
probably damaging |
Het |
| Poglut2 |
A |
G |
1: 44,149,966 (GRCm39) |
Y408H |
probably damaging |
Het |
| Polq |
C |
T |
16: 36,849,846 (GRCm39) |
P367S |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,927,600 (GRCm39) |
V817E |
probably benign |
Het |
| Pthlh |
T |
C |
6: 147,158,663 (GRCm39) |
D99G |
probably damaging |
Het |
| Rasgrp4 |
A |
T |
7: 28,848,542 (GRCm39) |
S556C |
probably damaging |
Het |
| Rhobtb1 |
G |
T |
10: 69,125,388 (GRCm39) |
V653L |
possibly damaging |
Het |
| Rin2 |
G |
A |
2: 145,664,225 (GRCm39) |
R33Q |
probably benign |
Het |
| Rmc1 |
A |
T |
18: 12,318,704 (GRCm39) |
|
probably null |
Het |
| Sh3rf2 |
C |
T |
18: 42,274,124 (GRCm39) |
T430I |
probably benign |
Het |
| Slc14a2 |
A |
G |
18: 78,227,759 (GRCm39) |
|
probably null |
Het |
| Slc39a8 |
C |
T |
3: 135,590,404 (GRCm39) |
Q366* |
probably null |
Het |
| Spata31h1 |
A |
T |
10: 82,130,433 (GRCm39) |
L859* |
probably null |
Het |
| Tagln3 |
G |
T |
16: 45,544,554 (GRCm39) |
A39D |
probably benign |
Het |
| Tfdp1 |
T |
A |
8: 13,423,015 (GRCm39) |
C307S |
probably benign |
Het |
| Tlr11 |
T |
C |
14: 50,599,945 (GRCm39) |
S644P |
probably damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,558,761 (GRCm39) |
D723G |
probably benign |
Het |
| Xpo5 |
A |
G |
17: 46,519,145 (GRCm39) |
N195D |
probably benign |
Het |
| Zfp11 |
T |
C |
5: 129,733,694 (GRCm39) |
Y589C |
possibly damaging |
Het |
| Zfp712 |
T |
C |
13: 67,189,172 (GRCm39) |
T452A |
probably benign |
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 |
|
R0490:Mamdc4
|
UTSW |
2 |
25,453,593 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- CAGCTTTAGGCAGATAGGGG -3'
(R):5'- TCCTATCTCTGCAGAAGGCC -3'
Sequencing Primer
(F):5'- GAGAACGACTGTCAGTTAGGGGC -3'
(R):5'- AGCTAAGATCTGAGGCCCG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation