Incidental Mutation 'R9301:Mdga1'
| ID |
704977 |
| 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: 0.338)
|
| Stock # |
R9301 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
30046930-30107557 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30069512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 178
(H178R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132583
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073556]
[ENSMUST00000165211]
[ENSMUST00000167190]
[ENSMUST00000171691]
|
| AlphaFold |
Q0PMG2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073556
AA Change: H178R
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000073246
Gene: ENSMUSG00000043557
AA Change: H178R
| 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: ENSMUST00000165211
AA Change: H178R
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000132583
Gene: ENSMUSG00000043557
AA Change: H178R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
21 |
N/A |
INTRINSIC |
|
IGc2
|
51 |
115 |
1.62e-12 |
SMART |
|
IG_like
|
148 |
221 |
6.07e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167190
AA Change: H452R
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130395
Gene: ENSMUSG00000043557
AA Change: H452R
| 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 damaging
Transcript: ENSMUST00000171691
AA Change: H178R
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126529
Gene: ENSMUSG00000043557
AA Change: H178R
| 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: 98.4%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,881,128 (GRCm39) |
N514K |
probably benign |
Het |
| Adss1 |
A |
T |
12: 112,602,882 (GRCm39) |
R358W |
probably damaging |
Het |
| Anxa8 |
T |
A |
14: 33,819,932 (GRCm39) |
I307N |
probably damaging |
Het |
| Atad5 |
T |
A |
11: 79,986,845 (GRCm39) |
I644N |
probably damaging |
Het |
| Atp5f1a |
G |
T |
18: 77,868,938 (GRCm39) |
L437F |
probably damaging |
Het |
| Babam1 |
A |
G |
8: 71,855,684 (GRCm39) |
K259R |
possibly damaging |
Het |
| BC048562 |
T |
G |
9: 108,323,054 (GRCm39) |
F130V |
probably damaging |
Het |
| Btf3l4b |
T |
A |
13: 96,217,621 (GRCm39) |
K73* |
probably null |
Het |
| Camsap2 |
T |
A |
1: 136,202,640 (GRCm39) |
|
probably null |
Het |
| Ccne2 |
A |
G |
4: 11,192,881 (GRCm39) |
I27M |
probably benign |
Het |
| Cd302 |
A |
G |
2: 60,082,793 (GRCm39) |
V177A |
possibly damaging |
Het |
| Cfap46 |
T |
C |
7: 139,222,461 (GRCm39) |
K1172R |
|
Het |
| Cic |
T |
C |
7: 24,991,117 (GRCm39) |
W2141R |
probably damaging |
Het |
| Cpeb3 |
A |
G |
19: 37,151,473 (GRCm39) |
V301A |
possibly damaging |
Het |
| Cpsf3 |
A |
G |
12: 21,350,112 (GRCm39) |
K277R |
possibly damaging |
Het |
| Cstl1 |
A |
G |
2: 148,592,926 (GRCm39) |
H27R |
possibly damaging |
Het |
| Dapk1 |
T |
A |
13: 60,866,125 (GRCm39) |
I188K |
possibly damaging |
Het |
| Dock6 |
T |
C |
9: 21,729,111 (GRCm39) |
T1301A |
probably benign |
Het |
| Eml5 |
A |
T |
12: 98,848,292 (GRCm39) |
C133* |
probably null |
Het |
| Ermap |
T |
A |
4: 119,042,744 (GRCm39) |
I260F |
probably damaging |
Het |
| Fbxw22 |
T |
G |
9: 109,215,653 (GRCm39) |
E198D |
possibly damaging |
Het |
| Flt4 |
T |
C |
11: 49,516,241 (GRCm39) |
Y115H |
possibly damaging |
Het |
| Fmo9 |
A |
C |
1: 166,494,794 (GRCm39) |
I369S |
probably damaging |
Het |
| Frmd4a |
T |
A |
2: 4,157,904 (GRCm39) |
S6T |
probably benign |
Het |
| Golga5 |
A |
T |
12: 102,443,057 (GRCm39) |
I330L |
probably benign |
Het |
| Helq |
C |
A |
5: 100,927,158 (GRCm39) |
V643F |
probably damaging |
Het |
| Ino80d |
A |
T |
1: 63,104,969 (GRCm39) |
L369H |
probably damaging |
Het |
| Kank1 |
A |
T |
19: 25,388,798 (GRCm39) |
M824L |
probably benign |
Het |
| Lilrb4b |
T |
C |
10: 51,356,801 (GRCm39) |
|
probably benign |
Het |
| Ltbp4 |
T |
A |
7: 27,021,578 (GRCm39) |
D1003V |
probably damaging |
Het |
| Mapk8ip2 |
T |
C |
15: 89,341,886 (GRCm39) |
S366P |
probably damaging |
Het |
| Mlh3 |
A |
G |
12: 85,292,613 (GRCm39) |
V1266A |
possibly damaging |
Het |
| Nrp1 |
A |
G |
8: 129,089,859 (GRCm39) |
E78G |
probably damaging |
Het |
| Or1l4 |
A |
T |
2: 37,091,255 (GRCm39) |
M1L |
probably benign |
Het |
| Or4z4 |
A |
T |
19: 12,076,826 (GRCm39) |
M59K |
probably damaging |
Het |
| Or5d16 |
A |
G |
2: 87,773,297 (GRCm39) |
V225A |
probably benign |
Het |
| Or8k33 |
A |
G |
2: 86,383,818 (GRCm39) |
S217P |
possibly damaging |
Het |
| Ovch2 |
A |
G |
7: 107,395,815 (GRCm39) |
S68P |
probably damaging |
Het |
| Pappa2 |
T |
A |
1: 158,672,614 (GRCm39) |
I1110F |
probably damaging |
Het |
| Pcyox1 |
A |
C |
6: 86,369,241 (GRCm39) |
L195R |
possibly damaging |
Het |
| Pde11a |
A |
G |
2: 75,848,217 (GRCm39) |
L870P |
probably damaging |
Het |
| Pgpep1 |
G |
A |
8: 71,103,418 (GRCm39) |
T152M |
probably damaging |
Het |
| Pik3c2a |
A |
T |
7: 115,945,413 (GRCm39) |
D1464E |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,167,610 (GRCm39) |
K468R |
possibly damaging |
Het |
| Postn |
C |
T |
3: 54,292,659 (GRCm39) |
T742I |
probably benign |
Het |
| Ppm1j |
T |
A |
3: 104,691,057 (GRCm39) |
Y274N |
probably damaging |
Het |
| Ppp2cb |
T |
C |
8: 34,090,038 (GRCm39) |
C32R |
possibly damaging |
Het |
| Prmt9 |
T |
A |
8: 78,282,374 (GRCm39) |
Y90* |
probably null |
Het |
| Ptk2 |
T |
C |
15: 73,146,346 (GRCm39) |
Y441C |
probably damaging |
Het |
| Rabggta |
T |
A |
14: 55,957,083 (GRCm39) |
I266L |
probably benign |
Het |
| Rft1 |
C |
T |
14: 30,398,812 (GRCm39) |
R261W |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 67,197,680 (GRCm39) |
A195V |
probably damaging |
Het |
| Rtkn2 |
T |
G |
10: 67,871,677 (GRCm39) |
L355R |
possibly damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,875,477 (GRCm39) |
D427V |
possibly damaging |
Het |
| Slc15a4 |
T |
G |
5: 127,673,812 (GRCm39) |
H534P |
probably benign |
Het |
| Slc16a7 |
T |
C |
10: 125,066,880 (GRCm39) |
N253S |
probably damaging |
Het |
| Slc29a1 |
A |
G |
17: 45,897,063 (GRCm39) |
S408P |
probably damaging |
Het |
| Slc52a2 |
G |
A |
15: 76,424,406 (GRCm39) |
A215T |
probably damaging |
Het |
| Smc1b |
T |
A |
15: 85,011,995 (GRCm39) |
I126L |
probably damaging |
Het |
| Sycp2 |
A |
T |
2: 178,023,650 (GRCm39) |
N455K |
probably benign |
Het |
| Tbck |
T |
C |
3: 132,543,738 (GRCm39) |
V863A |
probably benign |
Het |
| Tfap2c |
A |
G |
2: 172,395,347 (GRCm39) |
M263V |
probably benign |
Het |
| Tmem45a |
A |
G |
16: 56,627,134 (GRCm39) |
V245A |
probably damaging |
Het |
| Top2a |
C |
T |
11: 98,897,790 (GRCm39) |
G759D |
probably damaging |
Het |
| Traf5 |
A |
G |
1: 191,729,489 (GRCm39) |
S218P |
|
Het |
| Tsfm |
T |
C |
10: 126,866,502 (GRCm39) |
R20G |
probably benign |
Het |
| Ugt2a2 |
G |
T |
5: 87,608,382 (GRCm39) |
Q486K |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,422,951 (GRCm39) |
D3108E |
|
Het |
| Wnt11 |
A |
G |
7: 98,495,796 (GRCm39) |
Y100C |
probably damaging |
Het |
| Zbtb49 |
A |
G |
5: 38,370,931 (GRCm39) |
C317R |
probably benign |
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 |
|
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'- TACCCCAAGCTGTGTGAACTC -3'
(R):5'- GTCACTTCGTCTTGACTTAGGG -3'
Sequencing Primer
(F):5'- AAGCTGTGTGAACTCCAGCCTC -3'
(R):5'- GCTGGTGTCCTTGCAGAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation