Incidental Mutation 'R7812:Mdga1'
| ID |
601259 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mdga1
|
| Ensembl Gene |
ENSMUSG00000043557 |
| Gene Name |
MAM domain containing glycosylphosphatidylinositol anchor 1 |
| Synonyms |
Mamdc3, 1200011I03Rik |
| MMRRC Submission |
045867-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.338)
|
| Stock # |
R7812 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
30046930-30107557 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30062115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 438
(V438A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073556]
[ENSMUST00000167190]
[ENSMUST00000168044]
[ENSMUST00000171691]
|
| AlphaFold |
Q0PMG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073556
AA Change: V438A
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000073246
Gene: ENSMUSG00000043557
AA Change: V438A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
51 |
115 |
1.62e-12 |
SMART |
|
IG
|
142 |
236 |
3.2e-2 |
SMART |
|
IGc2
|
253 |
315 |
6.25e-14 |
SMART |
|
IGc2
|
348 |
422 |
3.54e-4 |
SMART |
|
IGc2
|
454 |
521 |
6.55e-8 |
SMART |
|
IGc2
|
551 |
623 |
9.49e-5 |
SMART |
|
FN3
|
642 |
731 |
2.05e0 |
SMART |
|
MAM
|
741 |
911 |
1.02e-52 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167190
AA Change: V712A
PolyPhen 2
Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000130395
Gene: ENSMUSG00000043557
AA Change: V712A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
236 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
251 |
265 |
N/A |
INTRINSIC |
|
IGc2
|
325 |
389 |
1.62e-12 |
SMART |
|
IG
|
416 |
510 |
3.2e-2 |
SMART |
|
IGc2
|
527 |
589 |
6.25e-14 |
SMART |
|
IGc2
|
622 |
696 |
3.54e-4 |
SMART |
|
IGc2
|
728 |
795 |
6.55e-8 |
SMART |
|
IGc2
|
825 |
897 |
9.49e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168044
|
| SMART Domains |
Protein: ENSMUSP00000126571
Gene: ENSMUSG00000043557
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAM
|
47 |
186 |
3.1e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171691
AA Change: V438A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000126529
Gene: ENSMUSG00000043557
AA Change: V438A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
51 |
115 |
1.62e-12 |
SMART |
|
IG
|
142 |
236 |
3.2e-2 |
SMART |
|
IGc2
|
253 |
315 |
6.25e-14 |
SMART |
|
IGc2
|
348 |
422 |
3.54e-4 |
SMART |
|
IGc2
|
454 |
521 |
6.55e-8 |
SMART |
|
IGc2
|
551 |
623 |
9.49e-5 |
SMART |
|
FN3
|
642 |
731 |
2.05e0 |
SMART |
|
MAM
|
749 |
919 |
3.61e-53 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosylphosphatidylinositol (GPI)-anchored cell surface glycoprotein that is expressed predominantly in the developing nervous system. In addition to possessing several cell adhesion molecule-like domains, the mature protein has six Ig-like domains, a single fibronectin type III domain, a MAM domain and a C-terminal GPI-anchoring site. Studies in other mammals suggest this protein plays a role in cell adhesion, migration, and axon guidance and, in the developing brain, neuronal migration. In humans, this gene is associated with bipolar disorder and schizophrenia. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal neuronal migration during corticogenesis that is resolved by P7 [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
C |
A |
9: 57,165,141 (GRCm39) |
C411F |
probably damaging |
Het |
| Abhd17c |
G |
T |
7: 83,800,624 (GRCm39) |
Y143* |
probably null |
Het |
| Acad11 |
T |
G |
9: 103,972,747 (GRCm39) |
L480R |
probably benign |
Het |
| Acad8 |
A |
T |
9: 26,890,476 (GRCm39) |
N277K |
probably damaging |
Het |
| Adcy10 |
A |
G |
1: 165,342,938 (GRCm39) |
Y268C |
probably damaging |
Het |
| Adm2 |
A |
T |
15: 89,208,367 (GRCm39) |
R102S |
possibly damaging |
Het |
| Ambra1 |
A |
T |
2: 91,596,911 (GRCm39) |
M1L |
probably benign |
Het |
| Angpt2 |
T |
C |
8: 18,742,161 (GRCm39) |
N465S |
probably benign |
Het |
| Arhgap17 |
T |
C |
7: 122,879,290 (GRCm39) |
I820M |
unknown |
Het |
| Atf7ip |
G |
A |
6: 136,580,415 (GRCm39) |
R1113Q |
probably damaging |
Het |
| Atp5pb |
A |
G |
3: 105,851,157 (GRCm39) |
V180A |
probably benign |
Het |
| Auts2 |
C |
T |
5: 131,501,284 (GRCm39) |
R43H |
|
Het |
| Cacna1g |
A |
T |
11: 94,334,880 (GRCm39) |
I809N |
probably benign |
Het |
| Cand1 |
A |
T |
10: 119,053,864 (GRCm39) |
M158K |
probably benign |
Het |
| Cars1 |
T |
A |
7: 143,123,784 (GRCm39) |
I500F |
probably damaging |
Het |
| Ccdc18 |
T |
A |
5: 108,328,699 (GRCm39) |
M706K |
probably benign |
Het |
| Ccdc180 |
G |
A |
4: 45,906,952 (GRCm39) |
|
probably null |
Het |
| Ces1f |
A |
G |
8: 93,984,938 (GRCm39) |
V463A |
probably benign |
Het |
| Cndp1 |
G |
T |
18: 84,655,994 (GRCm39) |
D58E |
probably benign |
Het |
| Csnk2b |
A |
T |
17: 35,339,431 (GRCm39) |
F21Y |
probably benign |
Het |
| Dgkg |
C |
G |
16: 22,385,165 (GRCm39) |
R447T |
probably damaging |
Het |
| Dnajc12 |
A |
G |
10: 63,242,905 (GRCm39) |
D141G |
probably benign |
Het |
| Edar |
A |
G |
10: 58,465,926 (GRCm39) |
V4A |
probably benign |
Het |
| Elf1 |
A |
G |
14: 79,802,998 (GRCm39) |
D117G |
probably damaging |
Het |
| Fam124b |
T |
C |
1: 80,191,351 (GRCm39) |
T11A |
probably damaging |
Het |
| Fgl2 |
C |
A |
5: 21,577,896 (GRCm39) |
T61K |
probably benign |
Het |
| Furin |
T |
C |
7: 80,045,722 (GRCm39) |
N218S |
possibly damaging |
Het |
| Gcn1 |
T |
A |
5: 115,731,751 (GRCm39) |
H955Q |
possibly damaging |
Het |
| Gucy2e |
A |
G |
11: 69,117,069 (GRCm39) |
I784T |
probably damaging |
Het |
| Ice1 |
T |
A |
13: 70,751,124 (GRCm39) |
Q1654L |
possibly damaging |
Het |
| Klhl28 |
T |
C |
12: 64,990,363 (GRCm39) |
N526S |
possibly damaging |
Het |
| Ldlrad4 |
C |
A |
18: 68,239,742 (GRCm39) |
P54Q |
probably benign |
Het |
| Lsm14a |
A |
G |
7: 34,088,301 (GRCm39) |
|
probably benign |
Het |
| Mrto4 |
A |
G |
4: 139,075,278 (GRCm39) |
V175A |
possibly damaging |
Het |
| Nav2 |
T |
G |
7: 49,246,921 (GRCm39) |
S2149A |
probably benign |
Het |
| Nr4a2 |
A |
G |
2: 57,002,430 (GRCm39) |
Y8H |
probably damaging |
Het |
| Or10q12 |
T |
C |
19: 13,746,380 (GRCm39) |
F225L |
probably benign |
Het |
| Or1j12 |
T |
A |
2: 36,343,290 (GRCm39) |
I231N |
probably benign |
Het |
| Or1j18 |
A |
T |
2: 36,624,737 (GRCm39) |
M135L |
probably benign |
Het |
| Or52e4 |
T |
C |
7: 104,705,894 (GRCm39) |
L147P |
possibly damaging |
Het |
| Oxr1 |
T |
A |
15: 41,615,138 (GRCm39) |
M1K |
probably null |
Het |
| Pbx3 |
T |
C |
2: 34,114,478 (GRCm39) |
Y152C |
probably damaging |
Het |
| Pcdhb13 |
T |
A |
18: 37,575,645 (GRCm39) |
C8S |
probably benign |
Het |
| Polr1c |
G |
A |
17: 46,557,053 (GRCm39) |
R77W |
probably damaging |
Het |
| Psg25 |
A |
T |
7: 18,255,093 (GRCm39) |
N474K |
possibly damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,766,413 (GRCm39) |
M838L |
possibly damaging |
Het |
| Ranbp2 |
A |
G |
10: 58,303,224 (GRCm39) |
T799A |
probably benign |
Het |
| Sbf2 |
C |
T |
7: 110,049,170 (GRCm39) |
V265I |
possibly damaging |
Het |
| Scarf2 |
G |
A |
16: 17,621,692 (GRCm39) |
G381R |
probably damaging |
Het |
| Shprh |
A |
G |
10: 11,027,735 (GRCm39) |
Q114R |
probably benign |
Het |
| Sipa1l2 |
A |
C |
8: 126,218,334 (GRCm39) |
D334E |
probably damaging |
Het |
| Slc26a4 |
T |
A |
12: 31,594,449 (GRCm39) |
I300F |
probably damaging |
Het |
| Sox7 |
C |
T |
14: 64,185,681 (GRCm39) |
T239I |
probably benign |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| St6galnac1 |
G |
T |
11: 116,659,927 (GRCm39) |
H129N |
probably benign |
Het |
| Stxbp4 |
A |
G |
11: 90,485,654 (GRCm39) |
L231P |
probably damaging |
Het |
| Syngap1 |
A |
C |
17: 27,160,478 (GRCm39) |
Y18S |
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,729,335 (GRCm39) |
Y1557C |
probably benign |
Het |
| Trim44 |
G |
T |
2: 102,230,489 (GRCm39) |
P181T |
possibly damaging |
Het |
| Trp53i13 |
A |
T |
11: 77,399,666 (GRCm39) |
V221D |
possibly damaging |
Het |
| Trpm7 |
A |
G |
2: 126,641,236 (GRCm39) |
S1554P |
probably damaging |
Het |
| Vcl |
A |
G |
14: 21,045,158 (GRCm39) |
N288D |
probably benign |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,196 (GRCm39) |
Y405* |
probably null |
Het |
| Vps35 |
T |
C |
8: 86,010,818 (GRCm39) |
D175G |
probably benign |
Het |
| Wdr90 |
A |
T |
17: 26,071,532 (GRCm39) |
L949Q |
probably damaging |
Het |
| Wwp1 |
G |
A |
4: 19,639,991 (GRCm39) |
T517I |
probably damaging |
Het |
| Zfp462 |
T |
G |
4: 55,008,509 (GRCm39) |
F158L |
probably benign |
Het |
| Zfp703 |
T |
A |
8: 27,469,906 (GRCm39) |
H523Q |
probably damaging |
Het |
|
| Other mutations in Mdga1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01576:Mdga1
|
APN |
17 |
30,062,101 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01637:Mdga1
|
APN |
17 |
30,058,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02130:Mdga1
|
APN |
17 |
30,076,643 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02596:Mdga1
|
APN |
17 |
30,051,379 (GRCm39) |
splice site |
probably benign |
|
|
IGL03258:Mdga1
|
APN |
17 |
30,058,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0184:Mdga1
|
UTSW |
17 |
30,071,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0366:Mdga1
|
UTSW |
17 |
30,076,682 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1017:Mdga1
|
UTSW |
17 |
30,069,522 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1520:Mdga1
|
UTSW |
17 |
30,065,493 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1545:Mdga1
|
UTSW |
17 |
30,061,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1549:Mdga1
|
UTSW |
17 |
30,056,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1671:Mdga1
|
UTSW |
17 |
30,069,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1875:Mdga1
|
UTSW |
17 |
30,071,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1893:Mdga1
|
UTSW |
17 |
30,068,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1958:Mdga1
|
UTSW |
17 |
30,059,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1983:Mdga1
|
UTSW |
17 |
30,069,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2014:Mdga1
|
UTSW |
17 |
30,068,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2894:Mdga1
|
UTSW |
17 |
30,071,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2964:Mdga1
|
UTSW |
17 |
30,071,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3813:Mdga1
|
UTSW |
17 |
30,057,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3938:Mdga1
|
UTSW |
17 |
30,076,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3982:Mdga1
|
UTSW |
17 |
30,150,238 (GRCm39) |
missense |
unknown |
|
|
R4063:Mdga1
|
UTSW |
17 |
30,057,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4157:Mdga1
|
UTSW |
17 |
30,052,317 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4183:Mdga1
|
UTSW |
17 |
30,188,964 (GRCm39) |
missense |
unknown |
|
|
R4392:Mdga1
|
UTSW |
17 |
30,069,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4393:Mdga1
|
UTSW |
17 |
30,069,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4396:Mdga1
|
UTSW |
17 |
30,069,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4806:Mdga1
|
UTSW |
17 |
30,061,128 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4829:Mdga1
|
UTSW |
17 |
30,065,343 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4923:Mdga1
|
UTSW |
17 |
30,057,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4932:Mdga1
|
UTSW |
17 |
30,076,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5015:Mdga1
|
UTSW |
17 |
30,058,847 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5076:Mdga1
|
UTSW |
17 |
30,069,528 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5141:Mdga1
|
UTSW |
17 |
30,071,467 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5180:Mdga1
|
UTSW |
17 |
30,076,710 (GRCm39) |
splice site |
probably benign |
|
|
R5590:Mdga1
|
UTSW |
17 |
30,058,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5747:Mdga1
|
UTSW |
17 |
30,069,525 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5748:Mdga1
|
UTSW |
17 |
30,069,525 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6207:Mdga1
|
UTSW |
17 |
30,057,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6826:Mdga1
|
UTSW |
17 |
30,189,000 (GRCm39) |
missense |
unknown |
|
|
R6831:Mdga1
|
UTSW |
17 |
30,106,490 (GRCm39) |
nonsense |
probably null |
|
|
R7114:Mdga1
|
UTSW |
17 |
30,061,816 (GRCm39) |
splice site |
probably null |
|
|
R7147:Mdga1
|
UTSW |
17 |
30,065,495 (GRCm39) |
nonsense |
probably null |
|
|
R7273:Mdga1
|
UTSW |
17 |
30,188,912 (GRCm39) |
missense |
unknown |
|
|
R7413:Mdga1
|
UTSW |
17 |
30,069,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7637:Mdga1
|
UTSW |
17 |
30,051,353 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7797:Mdga1
|
UTSW |
17 |
30,061,814 (GRCm39) |
splice site |
probably null |
|
|
R7838:Mdga1
|
UTSW |
17 |
30,058,796 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8463:Mdga1
|
UTSW |
17 |
30,068,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8697:Mdga1
|
UTSW |
17 |
30,065,615 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8699:Mdga1
|
UTSW |
17 |
30,061,348 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8864:Mdga1
|
UTSW |
17 |
30,150,295 (GRCm39) |
missense |
unknown |
|
|
R8945:Mdga1
|
UTSW |
17 |
30,058,959 (GRCm39) |
splice site |
probably benign |
|
|
R9150:Mdga1
|
UTSW |
17 |
30,057,420 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9157:Mdga1
|
UTSW |
17 |
30,057,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9294:Mdga1
|
UTSW |
17 |
30,058,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9301:Mdga1
|
UTSW |
17 |
30,069,512 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9367:Mdga1
|
UTSW |
17 |
30,051,282 (GRCm39) |
makesense |
probably null |
|
|
R9567:Mdga1
|
UTSW |
17 |
30,076,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9665:Mdga1
|
UTSW |
17 |
30,051,991 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGTAGCGAGCTGTCTGGC -3'
(R):5'- CTTCTGTAAGAAAAGCTGAGGGGC -3'
Sequencing Primer
(F):5'- ATGTCGCGGCTCACACTC -3'
(R):5'- CTGGGAAGGAGAAATTAAAAGCAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation