Incidental Mutation 'R9367:Mdga1'
| ID |
709088 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mdga1
|
| Ensembl Gene |
ENSMUSG00000043557 |
| Gene Name |
MAM domain containing glycosylphosphatidylinositol anchor 1 |
| Synonyms |
Mamdc3, 1200011I03Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.362)
|
| Stock # |
R9367 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
30046930-30107557 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to C
at 30051282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 957
(*957W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073556]
[ENSMUST00000168044]
[ENSMUST00000171691]
|
| AlphaFold |
Q0PMG2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000073556
AA Change: *949W
|
| SMART Domains |
Protein: ENSMUSP00000073246
Gene: ENSMUSG00000043557
AA Change: *949W
| 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 |
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 null
Transcript: ENSMUST00000171691
AA Change: *957W
|
| SMART Domains |
Protein: ENSMUSP00000126529
Gene: ENSMUSG00000043557
AA Change: *957W
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| 4930568D16Rik |
A |
T |
2: 35,244,939 (GRCm39) |
Y138N |
probably benign |
Het |
| Abca4 |
T |
C |
3: 121,838,197 (GRCm39) |
M1T |
probably null |
Het |
| Acer3 |
A |
G |
7: 97,908,621 (GRCm39) |
V104A |
probably damaging |
Het |
| Agpat4 |
A |
G |
17: 12,435,597 (GRCm39) |
E287G |
probably benign |
Het |
| Akip1 |
C |
T |
7: 109,308,156 (GRCm39) |
A146V |
unknown |
Het |
| Ank2 |
T |
C |
3: 126,738,678 (GRCm39) |
N2402S |
unknown |
Het |
| Arhgdig |
A |
T |
17: 26,418,451 (GRCm39) |
Y177* |
probably null |
Het |
| Arhgef38 |
T |
A |
3: 132,847,998 (GRCm39) |
T355S |
unknown |
Het |
| Atp8a2 |
C |
A |
14: 60,249,827 (GRCm39) |
|
probably null |
Het |
| Atp8b4 |
A |
G |
2: 126,216,430 (GRCm39) |
I672T |
probably damaging |
Het |
| Baat |
T |
A |
4: 49,503,008 (GRCm39) |
D38V |
probably damaging |
Het |
| Bcl9 |
T |
C |
3: 97,117,861 (GRCm39) |
S278G |
probably benign |
Het |
| Ccdc150 |
C |
T |
1: 54,324,760 (GRCm39) |
L350F |
probably damaging |
Het |
| Ceacam20 |
T |
G |
7: 19,705,533 (GRCm39) |
S175A |
probably damaging |
Het |
| Chd6 |
A |
T |
2: 160,871,784 (GRCm39) |
I217K |
possibly damaging |
Het |
| Cnppd1 |
T |
C |
1: 75,117,617 (GRCm39) |
I35V |
probably benign |
Het |
| Col15a1 |
T |
C |
4: 47,245,603 (GRCm39) |
I118T |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,567,564 (GRCm39) |
Y1289N |
|
Het |
| Dio2 |
T |
C |
12: 90,696,587 (GRCm39) |
T134A |
probably benign |
Het |
| Dnaaf9 |
A |
T |
2: 130,581,380 (GRCm39) |
N678K |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 117,987,464 (GRCm39) |
V1282A |
possibly damaging |
Het |
| Dnah17 |
A |
G |
11: 118,012,212 (GRCm39) |
S517P |
possibly damaging |
Het |
| Dync2h1 |
C |
T |
9: 7,125,730 (GRCm39) |
|
probably null |
Het |
| Echdc2 |
C |
A |
4: 108,036,111 (GRCm39) |
P274Q |
probably damaging |
Het |
| Fam117a |
T |
A |
11: 95,271,570 (GRCm39) |
C381S |
probably damaging |
Het |
| Fbxl12 |
A |
G |
9: 20,550,130 (GRCm39) |
F122S |
probably damaging |
Het |
| Gen1 |
G |
A |
12: 11,291,309 (GRCm39) |
Q892* |
probably null |
Het |
| Gimap4 |
A |
G |
6: 48,667,746 (GRCm39) |
Y167C |
probably damaging |
Het |
| Gle1 |
T |
A |
2: 29,839,014 (GRCm39) |
F476L |
probably damaging |
Het |
| Gpr135 |
A |
T |
12: 72,117,473 (GRCm39) |
V98E |
possibly damaging |
Het |
| Greb1l |
A |
T |
18: 10,522,130 (GRCm39) |
H742L |
probably benign |
Het |
| Habp2 |
G |
T |
19: 56,304,781 (GRCm39) |
C392F |
probably damaging |
Het |
| Hapln3 |
G |
T |
7: 78,771,455 (GRCm39) |
R145S |
probably damaging |
Het |
| Ikbkb |
A |
G |
8: 23,171,711 (GRCm39) |
C179R |
probably damaging |
Het |
| Kat6a |
A |
T |
8: 23,400,156 (GRCm39) |
I306L |
possibly damaging |
Het |
| Lmo3 |
A |
T |
6: 138,342,958 (GRCm39) |
Y140* |
probably null |
Het |
| Lrrc32 |
T |
A |
7: 98,148,937 (GRCm39) |
N572K |
probably damaging |
Het |
| Lrrn1 |
T |
A |
6: 107,545,093 (GRCm39) |
M297K |
probably damaging |
Het |
| Magi2 |
G |
A |
5: 20,766,308 (GRCm39) |
V676I |
probably damaging |
Het |
| Mip |
G |
T |
10: 128,063,029 (GRCm39) |
G158V |
probably damaging |
Het |
| Mmp14 |
T |
C |
14: 54,677,960 (GRCm39) |
I527T |
probably benign |
Het |
| Mmp27 |
G |
A |
9: 7,573,550 (GRCm39) |
G188D |
probably damaging |
Het |
| Mylk4 |
A |
T |
13: 32,960,236 (GRCm39) |
C17S |
possibly damaging |
Het |
| Naa50 |
T |
G |
16: 43,977,554 (GRCm39) |
I94R |
probably damaging |
Het |
| Nyap1 |
A |
T |
5: 137,734,248 (GRCm39) |
Y262N |
probably damaging |
Het |
| Obsl1 |
A |
G |
1: 75,466,177 (GRCm39) |
V1517A |
probably benign |
Het |
| P4htm |
T |
A |
9: 108,459,147 (GRCm39) |
M262L |
probably benign |
Het |
| Pappa2 |
T |
C |
1: 158,784,542 (GRCm39) |
E156G |
probably benign |
Het |
| Pcdhb15 |
A |
T |
18: 37,607,971 (GRCm39) |
Y401F |
possibly damaging |
Het |
| Pde2a |
G |
A |
7: 101,160,361 (GRCm39) |
R845H |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Penk |
C |
T |
4: 4,134,097 (GRCm39) |
M183I |
probably benign |
Het |
| Pole |
T |
C |
5: 110,444,955 (GRCm39) |
V437A |
probably damaging |
Het |
| Ppp1r7 |
T |
C |
1: 93,279,262 (GRCm39) |
I114T |
probably damaging |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| Pwp2 |
G |
A |
10: 78,014,827 (GRCm39) |
Q386* |
probably null |
Het |
| Rad17 |
A |
T |
13: 100,769,720 (GRCm39) |
S280T |
possibly damaging |
Het |
| Rhebl1 |
C |
T |
15: 98,776,414 (GRCm39) |
E128K |
possibly damaging |
Het |
| Sema3e |
G |
T |
5: 14,291,084 (GRCm39) |
V615L |
probably benign |
Het |
| Slc22a2 |
A |
T |
17: 12,824,837 (GRCm39) |
Y233F |
probably benign |
Het |
| Ssu2 |
A |
G |
6: 112,357,975 (GRCm39) |
S123P |
probably damaging |
Het |
| Stk10 |
A |
G |
11: 32,538,878 (GRCm39) |
E239G |
|
Het |
| Surf6 |
G |
T |
2: 26,782,380 (GRCm39) |
Q316K |
probably damaging |
Het |
| Tcerg1 |
G |
A |
18: 42,685,573 (GRCm39) |
D637N |
possibly damaging |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Tnxb |
C |
A |
17: 34,931,993 (GRCm39) |
F2175L |
probably damaging |
Het |
| Trp53i11 |
G |
C |
2: 93,029,273 (GRCm39) |
V91L |
probably benign |
Het |
| Tspan9 |
A |
G |
6: 127,944,102 (GRCm39) |
V66A |
probably damaging |
Het |
| Usp16 |
C |
T |
16: 87,261,669 (GRCm39) |
T95M |
probably benign |
Het |
| Usp9y |
A |
T |
Y: 1,324,982 (GRCm39) |
F1691Y |
probably damaging |
Het |
| Uty |
A |
T |
Y: 1,099,584 (GRCm39) |
L1204I |
possibly damaging |
Het |
| Vmn1r192 |
A |
T |
13: 22,371,800 (GRCm39) |
V140D |
possibly damaging |
Het |
| Vps54 |
T |
C |
11: 21,250,234 (GRCm39) |
V552A |
probably benign |
Het |
| Vps8 |
T |
C |
16: 21,340,668 (GRCm39) |
V804A |
possibly damaging |
Het |
| Zfp869 |
A |
C |
8: 70,161,057 (GRCm39) |
L33R |
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 |
|
|
R7812:Mdga1
|
UTSW |
17 |
30,062,115 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
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'- TCCACAGTAAAGAAGGTGCTG -3'
(R):5'- TAGAAACTGAGTCACGGGGC -3'
Sequencing Primer
(F):5'- TGCGTGTGTTGAACAACCAC -3'
(R):5'- GGGCCTCTCATGACCTACCTG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation