Incidental Mutation 'R8041:Mamdc4'
| ID |
618503 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mamdc4
|
| Ensembl Gene |
ENSMUSG00000026941 |
| Gene Name |
MAM domain containing 4 |
| Synonyms |
LOC381352 |
| MMRRC Submission |
067478-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R8041 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
25453124-25461328 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25454707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 1035
(F1035S)
|
| 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: F1035S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000092735
Gene: ENSMUSG00000026941
AA Change: F1035S
| 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: F1031S
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000109861
Gene: ENSMUSG00000026941
AA Change: F1031S
| 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 damaging
Transcript: ENSMUST00000152237
AA Change: F932S
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119789
Gene: ENSMUSG00000026941
AA Change: F932S
| 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: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l1 |
A |
T |
18: 61,891,754 (GRCm39) |
L21Q |
probably damaging |
Het |
| Ago1 |
G |
A |
4: 126,335,729 (GRCm39) |
R661C |
probably damaging |
Het |
| Albfm1 |
T |
A |
5: 90,740,864 (GRCm39) |
|
probably null |
Het |
| Aoc3 |
T |
C |
11: 101,223,132 (GRCm39) |
V456A |
probably benign |
Het |
| Aopep |
G |
C |
13: 63,180,921 (GRCm39) |
W294C |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,547,311 (GRCm39) |
F1223L |
probably damaging |
Het |
| Ccdc40 |
T |
C |
11: 119,122,507 (GRCm39) |
F33S |
possibly damaging |
Het |
| Ccnjl |
T |
C |
11: 43,470,538 (GRCm39) |
V102A |
probably damaging |
Het |
| Cd48 |
T |
C |
1: 171,526,958 (GRCm39) |
V128A |
probably damaging |
Het |
| Cmah |
A |
G |
13: 24,652,601 (GRCm39) |
D577G |
probably benign |
Het |
| Cnnm4 |
A |
G |
1: 36,511,174 (GRCm39) |
K134R |
probably benign |
Het |
| Cntnap5a |
T |
A |
1: 116,187,209 (GRCm39) |
Y594N |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,318,626 (GRCm39) |
E1375G |
unknown |
Het |
| Comtd1 |
T |
A |
14: 21,897,985 (GRCm39) |
E153V |
probably benign |
Het |
| Dchs1 |
T |
A |
7: 105,404,395 (GRCm39) |
T2716S |
probably benign |
Het |
| Ddx4 |
A |
T |
13: 112,762,928 (GRCm39) |
S143T |
probably benign |
Het |
| Dlg1 |
A |
G |
16: 31,656,885 (GRCm39) |
D593G |
possibly damaging |
Het |
| Dok6 |
A |
G |
18: 89,578,213 (GRCm39) |
I68T |
possibly damaging |
Het |
| Dpysl5 |
A |
G |
5: 30,953,658 (GRCm39) |
I563V |
probably benign |
Het |
| Eapp |
A |
G |
12: 54,739,650 (GRCm39) |
S56P |
probably damaging |
Het |
| Efcab3 |
T |
G |
11: 104,810,305 (GRCm39) |
D3147E |
unknown |
Het |
| Fgd5 |
A |
T |
6: 92,038,837 (GRCm39) |
D1157V |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,194,939 (GRCm39) |
L213Q |
unknown |
Het |
| Foxo1 |
T |
A |
3: 52,253,044 (GRCm39) |
Y402* |
probably null |
Het |
| Fyb2 |
C |
A |
4: 104,857,681 (GRCm39) |
F619L |
possibly damaging |
Het |
| Gtf2i |
A |
T |
5: 134,322,599 (GRCm39) |
|
probably null |
Het |
| Hrh1 |
G |
A |
6: 114,456,878 (GRCm39) |
R53H |
not run |
Het |
| Hydin |
A |
T |
8: 111,301,626 (GRCm39) |
M3786L |
probably benign |
Het |
| Ifi207 |
T |
C |
1: 173,555,268 (GRCm39) |
R805G |
possibly damaging |
Het |
| Igfn1 |
C |
A |
1: 135,895,797 (GRCm39) |
G1590* |
probably null |
Het |
| Jph3 |
A |
C |
8: 122,516,201 (GRCm39) |
I740L |
probably benign |
Het |
| Kbtbd7 |
T |
A |
14: 79,666,144 (GRCm39) |
F659I |
probably benign |
Het |
| Kcns2 |
A |
T |
15: 34,839,291 (GRCm39) |
Q218L |
probably benign |
Het |
| Kcnt2 |
A |
G |
1: 140,537,398 (GRCm39) |
N1119S |
probably benign |
Het |
| Krit1 |
A |
T |
5: 3,857,309 (GRCm39) |
H38L |
probably benign |
Het |
| Krt20 |
T |
A |
11: 99,328,663 (GRCm39) |
R87S |
probably damaging |
Het |
| Ly6g5c |
A |
G |
17: 35,330,808 (GRCm39) |
E110G |
probably damaging |
Het |
| Mmp13 |
A |
T |
9: 7,280,865 (GRCm39) |
D416V |
probably benign |
Het |
| Nadk |
G |
T |
4: 155,661,524 (GRCm39) |
D17Y |
probably benign |
Het |
| Nrap |
A |
T |
19: 56,352,768 (GRCm39) |
L566* |
probably null |
Het |
| Or12d17 |
T |
C |
17: 37,777,540 (GRCm39) |
F148L |
probably benign |
Het |
| Or4b12 |
A |
T |
2: 90,096,488 (GRCm39) |
C95* |
probably null |
Het |
| Or51ai2 |
T |
C |
7: 103,586,788 (GRCm39) |
L67P |
probably damaging |
Het |
| Or5p69 |
T |
C |
7: 107,966,741 (GRCm39) |
F15L |
probably damaging |
Het |
| Pcdhb19 |
T |
C |
18: 37,630,367 (GRCm39) |
L54P |
possibly damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,259,519 (GRCm39) |
F1272S |
probably damaging |
Het |
| Pml |
C |
A |
9: 58,141,968 (GRCm39) |
R288L |
probably benign |
Het |
| Reep4 |
T |
C |
14: 70,785,627 (GRCm39) |
Y186H |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,356,702 (GRCm39) |
T89A |
possibly damaging |
Het |
| Shc1 |
T |
C |
3: 89,330,260 (GRCm39) |
S175P |
probably damaging |
Het |
| Sipa1l3 |
A |
G |
7: 29,063,645 (GRCm39) |
S1156P |
probably damaging |
Het |
| Slc1a3 |
G |
A |
15: 8,665,683 (GRCm39) |
P522L |
probably benign |
Het |
| Slc6a17 |
T |
A |
3: 107,381,744 (GRCm39) |
T446S |
probably damaging |
Het |
| Tas1r2 |
A |
T |
4: 139,387,290 (GRCm39) |
N250Y |
possibly damaging |
Het |
| Tex15 |
G |
T |
8: 34,065,874 (GRCm39) |
R1768L |
probably damaging |
Het |
| Ttll9 |
G |
C |
2: 152,844,956 (GRCm39) |
Q441H |
possibly damaging |
Het |
| Unc5c |
T |
A |
3: 141,171,545 (GRCm39) |
V24E |
possibly damaging |
Het |
| Unc79 |
A |
G |
12: 103,054,726 (GRCm39) |
E888G |
probably benign |
Het |
| Vmn2r19 |
T |
C |
6: 123,312,750 (GRCm39) |
S607P |
possibly damaging |
Het |
| Vsig1 |
C |
T |
X: 139,833,875 (GRCm39) |
H232Y |
probably benign |
Het |
| Wdfy4 |
A |
G |
14: 32,875,965 (GRCm39) |
|
probably null |
Het |
| Zbtb49 |
T |
C |
5: 38,358,198 (GRCm39) |
D685G |
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 |
|
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 |
|
|
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'- TTTGTGCCTAACCTGAGCCC -3'
(R):5'- GACTTTGAAACTGGCCTGTG -3'
Sequencing Primer
(F):5'- AACCTGAGCCCCTGTTCC -3'
(R):5'- ACTGGAGTAGTGGAGCCAC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation