Incidental Mutation 'R9665:Mdga1'
ID |
727802 |
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 # |
R9665 (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 T
at 30051991 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 892
(I892N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126529
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073556]
[ENSMUST00000168044]
[ENSMUST00000171691]
|
AlphaFold |
Q0PMG2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073556
AA Change: I884N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000073246 Gene: ENSMUSG00000043557 AA Change: I884N
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 damaging
Transcript: ENSMUST00000171691
AA Change: I892N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000126529 Gene: ENSMUSG00000043557 AA Change: I892N
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503E14Rik |
T |
C |
14: 44,407,796 (GRCm39) |
E79G |
probably damaging |
Het |
4930583I09Rik |
T |
A |
17: 65,141,288 (GRCm39) |
Q78L |
unknown |
Het |
9330159F19Rik |
G |
T |
10: 29,103,344 (GRCm39) |
V642F |
probably benign |
Het |
Abca9 |
T |
A |
11: 110,006,280 (GRCm39) |
Q1275L |
probably benign |
Het |
Abca9 |
G |
T |
11: 110,006,281 (GRCm39) |
Q1275K |
probably benign |
Het |
Ager |
C |
T |
17: 34,819,090 (GRCm39) |
P313S |
probably benign |
Het |
Ap4m1 |
T |
A |
5: 138,171,273 (GRCm39) |
N98K |
probably benign |
Het |
Arhgef12 |
T |
G |
9: 42,929,650 (GRCm39) |
K215T |
possibly damaging |
Het |
Arhgef4 |
T |
C |
1: 34,849,518 (GRCm39) |
Y370H |
probably benign |
Het |
Bcat1 |
T |
G |
6: 144,994,488 (GRCm39) |
H3P |
probably benign |
Het |
Btnl6 |
T |
A |
17: 34,732,635 (GRCm39) |
Q313L |
probably benign |
Het |
Cad |
T |
C |
5: 31,229,703 (GRCm39) |
S1458P |
probably benign |
Het |
Cfap161 |
A |
G |
7: 83,442,579 (GRCm39) |
V78A |
probably benign |
Het |
Chd2 |
C |
A |
7: 73,079,555 (GRCm39) |
A1782S |
probably benign |
Het |
Cimip2b |
T |
A |
4: 43,427,554 (GRCm39) |
R257* |
probably null |
Het |
Col4a3 |
A |
T |
1: 82,668,301 (GRCm39) |
T1042S |
unknown |
Het |
Cramp1 |
A |
T |
17: 25,196,545 (GRCm39) |
N856K |
probably damaging |
Het |
Crispld2 |
G |
A |
8: 120,760,316 (GRCm39) |
R414H |
probably benign |
Het |
Ctsb |
T |
A |
14: 63,370,917 (GRCm39) |
|
probably null |
Het |
Cyp2c69 |
T |
C |
19: 39,839,504 (GRCm39) |
D373G |
possibly damaging |
Het |
Dnah3 |
A |
G |
7: 119,644,981 (GRCm39) |
V1100A |
probably benign |
Het |
Dnajb6 |
A |
T |
5: 29,971,374 (GRCm39) |
L225F |
probably damaging |
Het |
Dscc1 |
A |
T |
15: 54,946,837 (GRCm39) |
I296K |
unknown |
Het |
Epb41l2 |
A |
G |
10: 25,317,798 (GRCm39) |
D105G |
probably benign |
Het |
Evpl |
G |
A |
11: 116,123,497 (GRCm39) |
R292C |
probably damaging |
Het |
Flnc |
T |
C |
6: 29,455,447 (GRCm39) |
I2032T |
probably damaging |
Het |
Fryl |
T |
A |
5: 73,222,299 (GRCm39) |
D2094V |
probably damaging |
Het |
Gigyf2 |
A |
G |
1: 87,331,457 (GRCm39) |
S202G |
unknown |
Het |
Hdgfl1 |
A |
T |
13: 26,953,812 (GRCm39) |
M87K |
probably benign |
Het |
Htra3 |
T |
A |
5: 35,836,654 (GRCm39) |
I13F |
unknown |
Het |
Igf2r |
T |
C |
17: 12,913,027 (GRCm39) |
N1774D |
probably benign |
Het |
Ighj1 |
A |
T |
12: 113,393,446 (GRCm39) |
Y3N |
|
Het |
Incenp |
T |
C |
19: 9,871,329 (GRCm39) |
H100R |
unknown |
Het |
Klrb1c |
A |
G |
6: 128,760,625 (GRCm39) |
|
probably null |
Het |
Lmbrd1 |
T |
A |
1: 24,732,065 (GRCm39) |
V94D |
probably damaging |
Het |
Lmna |
A |
T |
3: 88,389,793 (GRCm39) |
S611T |
probably benign |
Het |
Lsp1 |
A |
C |
7: 142,044,142 (GRCm39) |
I296L |
probably benign |
Het |
Micu3 |
A |
G |
8: 40,828,666 (GRCm39) |
E351G |
probably benign |
Het |
Mrpl35 |
A |
G |
6: 71,795,704 (GRCm39) |
V61A |
probably benign |
Het |
Nhsl1 |
A |
G |
10: 18,401,599 (GRCm39) |
K908E |
possibly damaging |
Het |
Nlk |
A |
G |
11: 78,481,753 (GRCm39) |
L236P |
|
Het |
Nwd1 |
T |
A |
8: 73,401,106 (GRCm39) |
H735Q |
probably damaging |
Het |
Or1e1b-ps1 |
A |
T |
11: 73,845,656 (GRCm39) |
I47F |
probably benign |
Het |
Or5d47 |
A |
G |
2: 87,804,596 (GRCm39) |
S138P |
possibly damaging |
Het |
Or5w17 |
A |
T |
2: 87,583,671 (GRCm39) |
I222N |
probably damaging |
Het |
Or7h8 |
T |
A |
9: 20,124,402 (GRCm39) |
Y252* |
probably null |
Het |
Otof |
T |
A |
5: 30,584,895 (GRCm39) |
S70C |
probably benign |
Het |
Pcdh20 |
A |
T |
14: 88,707,162 (GRCm39) |
V46D |
probably benign |
Het |
Pjvk |
A |
G |
2: 76,487,827 (GRCm39) |
T240A |
probably benign |
Het |
Pou2f1 |
A |
G |
1: 165,703,600 (GRCm39) |
S697P |
probably damaging |
Het |
Prkn |
T |
A |
17: 11,286,062 (GRCm39) |
D18E |
possibly damaging |
Het |
Prmt9 |
G |
A |
8: 78,307,267 (GRCm39) |
V739I |
probably benign |
Het |
Prr14 |
A |
G |
7: 127,073,091 (GRCm39) |
D146G |
probably benign |
Het |
Rai14 |
T |
G |
15: 10,574,803 (GRCm39) |
E747D |
probably damaging |
Het |
Rapgef4 |
A |
T |
2: 72,036,018 (GRCm39) |
T504S |
probably benign |
Het |
Rilpl2 |
C |
A |
5: 124,616,240 (GRCm39) |
|
probably benign |
Het |
Ror2 |
A |
T |
13: 53,439,561 (GRCm39) |
M1K |
probably null |
Het |
Shisa9 |
A |
G |
16: 12,085,446 (GRCm39) |
T352A |
probably benign |
Het |
Slc35a4 |
A |
G |
18: 36,813,651 (GRCm39) |
N33S |
probably benign |
Het |
Slx4 |
G |
T |
16: 3,806,890 (GRCm39) |
L518I |
probably benign |
Het |
Speer1i |
A |
G |
5: 11,092,852 (GRCm39) |
K132R |
|
Het |
Spon2 |
T |
C |
5: 33,374,702 (GRCm39) |
T35A |
probably benign |
Het |
Syne3 |
A |
C |
12: 104,924,247 (GRCm39) |
L471R |
probably benign |
Het |
Tas2r115 |
A |
G |
6: 132,714,390 (GRCm39) |
L187S |
probably benign |
Het |
Tbc1d30 |
G |
T |
10: 121,102,886 (GRCm39) |
S715R |
possibly damaging |
Het |
Tdrd1 |
A |
G |
19: 56,819,572 (GRCm39) |
E24G |
probably benign |
Het |
Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
Tjp1 |
A |
G |
7: 64,962,644 (GRCm39) |
S1178P |
probably benign |
Het |
Upf2 |
A |
G |
2: 6,051,715 (GRCm39) |
S1126G |
unknown |
Het |
Vmn1r128 |
G |
T |
7: 21,083,362 (GRCm39) |
C22F |
probably damaging |
Het |
Vmn2r95 |
G |
T |
17: 18,660,607 (GRCm39) |
V340F |
probably damaging |
Het |
Vps13c |
A |
T |
9: 67,863,025 (GRCm39) |
K3014* |
probably null |
Het |
Wdr75 |
T |
C |
1: 45,843,013 (GRCm39) |
V126A |
unknown |
Het |
Yeats4 |
A |
T |
10: 117,053,343 (GRCm39) |
Y139* |
probably null |
Het |
Zc3h13 |
A |
G |
14: 75,567,989 (GRCm39) |
D1094G |
probably damaging |
Het |
Zfp143 |
C |
G |
7: 109,692,414 (GRCm39) |
I608M |
probably damaging |
Het |
Zfp772 |
A |
T |
7: 7,212,793 (GRCm39) |
M1K |
probably null |
Het |
Zfp827 |
A |
G |
8: 79,906,756 (GRCm39) |
M923V |
possibly 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 |
R9367:Mdga1
|
UTSW |
17 |
30,051,282 (GRCm39) |
makesense |
probably null |
|
R9567:Mdga1
|
UTSW |
17 |
30,076,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGACACACAGTTCTTGTCATCC -3'
(R):5'- TGTACCCATTAACCCCAGTGG -3'
Sequencing Primer
(F):5'- GTCATCCAGACATCCTAAGCC -3'
(R):5'- CCCTTCCAGGTAAGAAGATGGCTG -3'
|
Posted On |
2022-10-06 |