Incidental Mutation 'R8531:Mamdc4'
| ID |
659025 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mamdc4
|
| Ensembl Gene |
ENSMUSG00000026941 |
| Gene Name |
MAM domain containing 4 |
| Synonyms |
LOC381352 |
| MMRRC Submission |
068501-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R8531 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
25453124-25461328 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 25457730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 452
(Q452K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092735
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095117]
[ENSMUST00000114223]
|
| AlphaFold |
A2AJA7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095117
AA Change: Q452K
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000092735
Gene: ENSMUSG00000026941
AA Change: Q452K
| 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 |
probably benign
Transcript: ENSMUST00000114223
AA Change: Q448K
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000109861
Gene: ENSMUSG00000026941
AA Change: Q448K
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000119789
Gene: ENSMUSG00000026941
AA Change: Q428K
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
T |
15: 81,950,622 (GRCm39) |
R1506S |
probably benign |
Het |
| Acox2 |
T |
C |
14: 8,247,960 (GRCm38) |
T441A |
probably damaging |
Het |
| Adam6a |
A |
G |
12: 113,508,917 (GRCm39) |
E430G |
probably damaging |
Het |
| Afg3l2 |
T |
C |
18: 67,540,439 (GRCm39) |
E690G |
probably damaging |
Het |
| Alb |
A |
G |
5: 90,611,873 (GRCm39) |
I101V |
probably benign |
Het |
| Arhgef19 |
T |
C |
4: 140,976,903 (GRCm39) |
I493T |
possibly damaging |
Het |
| Btnl2 |
T |
C |
17: 34,577,028 (GRCm39) |
M61T |
probably benign |
Het |
| Cyp2d11 |
A |
G |
15: 82,273,429 (GRCm39) |
Y481H |
probably benign |
Het |
| Dennd4c |
T |
C |
4: 86,744,319 (GRCm39) |
|
probably null |
Het |
| Dhx9 |
C |
A |
1: 153,334,182 (GRCm39) |
V993F |
possibly damaging |
Het |
| Dlk1 |
A |
G |
12: 109,424,066 (GRCm39) |
Q110R |
probably null |
Het |
| Dmp1 |
A |
C |
5: 104,360,269 (GRCm39) |
D315A |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,550,591 (GRCm39) |
K3243E |
probably damaging |
Het |
| Dsc3 |
T |
C |
18: 20,101,449 (GRCm39) |
N648S |
probably benign |
Het |
| Dsc3 |
C |
T |
18: 20,114,274 (GRCm39) |
D327N |
probably damaging |
Het |
| Egr4 |
T |
C |
6: 85,489,106 (GRCm39) |
D318G |
probably damaging |
Het |
| Fiz1 |
A |
T |
7: 5,012,163 (GRCm39) |
C118* |
probably null |
Het |
| Flad1 |
A |
C |
3: 89,310,517 (GRCm39) |
Y479D |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,929,939 (GRCm38) |
F2023S |
probably damaging |
Het |
| Glp1r |
T |
C |
17: 31,143,531 (GRCm39) |
L189P |
probably damaging |
Het |
| Grm5 |
A |
T |
7: 87,779,724 (GRCm39) |
T1055S |
probably benign |
Het |
| Gucy1a1 |
A |
G |
3: 82,018,468 (GRCm39) |
I123T |
probably benign |
Het |
| Ifnar1 |
T |
A |
16: 91,292,344 (GRCm39) |
C199* |
probably null |
Het |
| Lepr |
A |
T |
4: 101,622,612 (GRCm39) |
Y464F |
probably damaging |
Het |
| Map2k6 |
A |
G |
11: 110,290,175 (GRCm39) |
|
probably benign |
Het |
| Mphosph10 |
T |
C |
7: 64,034,076 (GRCm39) |
I429V |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,181,074 (GRCm39) |
M1178L |
possibly damaging |
Het |
| Nherf4 |
T |
C |
9: 44,159,670 (GRCm39) |
E442G |
probably damaging |
Het |
| Npc2 |
C |
A |
12: 84,807,612 (GRCm39) |
R82L |
probably benign |
Het |
| Olfm5 |
A |
T |
7: 103,803,029 (GRCm39) |
M478K |
probably benign |
Het |
| Or5aq6 |
G |
T |
2: 86,923,670 (GRCm39) |
Q24K |
probably benign |
Het |
| Or5k14 |
A |
C |
16: 58,693,016 (GRCm39) |
L166V |
probably damaging |
Het |
| Osbpl9 |
T |
C |
4: 109,013,908 (GRCm39) |
D62G |
probably damaging |
Het |
| Otog |
C |
T |
7: 45,901,473 (GRCm39) |
R391C |
probably damaging |
Het |
| Plppr4 |
T |
C |
3: 117,115,592 (GRCm39) |
Y755C |
probably damaging |
Het |
| Pnpla8 |
T |
A |
12: 44,358,368 (GRCm39) |
F708I |
possibly damaging |
Het |
| Pom121l12 |
A |
T |
11: 14,549,932 (GRCm39) |
T213S |
probably benign |
Het |
| Pramel27 |
T |
A |
4: 143,579,601 (GRCm39) |
D395E |
probably benign |
Het |
| Rabep1 |
T |
C |
11: 70,799,332 (GRCm39) |
S278P |
probably benign |
Het |
| Rigi |
A |
G |
4: 40,225,596 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
C |
G |
11: 119,365,031 (GRCm39) |
Q4563E |
probably benign |
Het |
| Rttn |
C |
A |
18: 89,131,467 (GRCm39) |
R1949S |
probably benign |
Het |
| Rwdd3 |
T |
C |
3: 120,952,788 (GRCm39) |
I140V |
probably benign |
Het |
| Serpinb6a |
A |
T |
13: 34,115,462 (GRCm39) |
M53K |
probably damaging |
Het |
| Serpinb9g |
A |
T |
13: 33,676,896 (GRCm39) |
D226V |
possibly damaging |
Het |
| Serpind1 |
A |
T |
16: 17,160,847 (GRCm39) |
Y459F |
probably damaging |
Het |
| Skor2 |
T |
C |
18: 76,946,569 (GRCm39) |
V97A |
unknown |
Het |
| Slc26a4 |
C |
T |
12: 31,599,911 (GRCm39) |
|
probably null |
Het |
| Slc4a10 |
T |
C |
2: 62,097,851 (GRCm39) |
Y517H |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,254,909 (GRCm39) |
W947R |
probably damaging |
Het |
| Sult3a2 |
T |
C |
10: 33,653,239 (GRCm39) |
D167G |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,410,020 (GRCm39) |
M729K |
probably damaging |
Het |
| Tmem176b |
A |
G |
6: 48,811,538 (GRCm39) |
I37T |
possibly damaging |
Het |
| Tmem259 |
A |
G |
10: 79,813,819 (GRCm39) |
V423A |
probably damaging |
Het |
| Tmem62 |
G |
T |
2: 120,837,533 (GRCm39) |
L483F |
probably damaging |
Het |
| Tnfrsf13b |
T |
C |
11: 61,031,777 (GRCm39) |
|
probably null |
Het |
| Tut7 |
A |
T |
13: 59,937,074 (GRCm39) |
I1191K |
probably damaging |
Het |
| Txk |
C |
A |
5: 72,893,720 (GRCm39) |
C20F |
possibly damaging |
Het |
| Ube2w |
A |
C |
1: 16,672,542 (GRCm39) |
N46K |
probably benign |
Het |
| Unc79 |
A |
T |
12: 103,013,922 (GRCm39) |
H300L |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,049,855 (GRCm39) |
H920Q |
probably benign |
Het |
| Vmn1r16 |
A |
G |
6: 57,299,900 (GRCm39) |
Y241H |
probably damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,742,459 (GRCm39) |
I278F |
possibly damaging |
Het |
| Zfp260 |
T |
A |
7: 29,804,884 (GRCm39) |
H261Q |
probably 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 |
|
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 |
|
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 |
|
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'- TAAACGTGTGGAGCCATGC -3'
(R):5'- TCAGATCCTTCTAGCTGGGG -3'
Sequencing Primer
(F):5'- ATGCAGGCTCTGACTGGC -3'
(R):5'- TGGGCCTAGACGACCTTATCATG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation