Incidental Mutation 'R9567:Mdga1'
ID |
721724 |
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 # |
R9567 (G1)
|
Quality Score |
215.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
30046930-30107557 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 30076569 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 68
(P68S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132583
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073556]
[ENSMUST00000165211]
[ENSMUST00000167190]
[ENSMUST00000171691]
|
AlphaFold |
Q0PMG2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073556
AA Change: P68S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000073246 Gene: ENSMUSG00000043557 AA Change: P68S
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 damaging
Transcript: ENSMUST00000165211
AA Change: P68S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132583 Gene: ENSMUSG00000043557 AA Change: P68S
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 |
probably damaging
Transcript: ENSMUST00000167190
AA Change: P342S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130395 Gene: ENSMUSG00000043557 AA Change: P342S
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: P68S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000126529 Gene: ENSMUSG00000043557 AA Change: P68S
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: 98.8%
|
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
C |
T |
13: 119,602,793 (GRCm39) |
P52S |
probably damaging |
Het |
6820408C15Rik |
C |
A |
2: 152,270,867 (GRCm39) |
P30Q |
probably damaging |
Het |
Adam18 |
C |
T |
8: 25,118,210 (GRCm39) |
V569I |
probably benign |
Het |
Adnp2 |
A |
T |
18: 80,174,133 (GRCm39) |
L92Q |
probably damaging |
Het |
Ahi1 |
C |
T |
10: 20,857,300 (GRCm39) |
H632Y |
possibly damaging |
Het |
Akap9 |
A |
G |
5: 4,127,311 (GRCm39) |
N3720D |
possibly damaging |
Het |
Alpk3 |
T |
C |
7: 80,742,687 (GRCm39) |
S835P |
possibly damaging |
Het |
Amer3 |
C |
T |
1: 34,627,836 (GRCm39) |
L692F |
probably benign |
Het |
Anks6 |
T |
A |
4: 47,044,880 (GRCm39) |
D342V |
unknown |
Het |
Arap2 |
G |
T |
5: 62,761,841 (GRCm39) |
F1628L |
probably benign |
Het |
Arhgap21 |
T |
G |
2: 20,896,953 (GRCm39) |
I108L |
possibly damaging |
Het |
Cacna1h |
T |
C |
17: 25,612,487 (GRCm39) |
I404V |
probably damaging |
Het |
Cacna2d3 |
G |
T |
14: 28,627,268 (GRCm39) |
A1077E |
probably benign |
Het |
Cacng6 |
T |
C |
7: 3,483,281 (GRCm39) |
V203A |
probably benign |
Het |
Clec1b |
A |
T |
6: 129,382,201 (GRCm39) |
D226V |
possibly damaging |
Het |
Crb1 |
A |
C |
1: 139,171,208 (GRCm39) |
S727R |
probably benign |
Het |
Dars1 |
T |
C |
1: 128,343,112 (GRCm39) |
I35V |
|
Het |
Ddo |
T |
A |
10: 40,523,913 (GRCm39) |
V301D |
probably damaging |
Het |
Diablo |
C |
A |
5: 123,662,196 (GRCm39) |
|
probably benign |
Het |
Dipk1a |
T |
A |
5: 108,057,368 (GRCm39) |
K397* |
probably null |
Het |
Dnhd1 |
C |
A |
7: 105,353,473 (GRCm39) |
H2875Q |
probably benign |
Het |
E230025N22Rik |
A |
G |
18: 36,820,336 (GRCm39) |
L282P |
|
Het |
Ebna1bp2 |
A |
G |
4: 118,478,190 (GRCm39) |
Q21R |
probably benign |
Het |
Exoc7 |
C |
T |
11: 116,195,724 (GRCm39) |
V93I |
probably benign |
Het |
Foxk1 |
T |
A |
5: 142,387,713 (GRCm39) |
Y145* |
probably null |
Het |
Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
Fsip2 |
C |
T |
2: 82,798,173 (GRCm39) |
T489M |
probably benign |
Het |
Gbf1 |
C |
T |
19: 46,260,046 (GRCm39) |
T1067I |
|
Het |
Ggta1 |
T |
A |
2: 35,313,333 (GRCm39) |
T3S |
possibly damaging |
Het |
Guf1 |
T |
A |
5: 69,721,951 (GRCm39) |
V370E |
possibly damaging |
Het |
Hmg20a |
A |
G |
9: 56,384,472 (GRCm39) |
S81G |
probably benign |
Het |
Igf2r |
G |
A |
17: 12,905,641 (GRCm39) |
T2230I |
probably damaging |
Het |
Ighmbp2 |
A |
T |
19: 3,332,785 (GRCm39) |
M1K |
probably null |
Het |
Klhdc9 |
T |
C |
1: 171,187,914 (GRCm39) |
T106A |
probably benign |
Het |
Kti12 |
T |
C |
4: 108,705,935 (GRCm39) |
M283T |
possibly damaging |
Het |
Lrig3 |
C |
T |
10: 125,845,964 (GRCm39) |
P798S |
probably benign |
Het |
Lrp8 |
T |
C |
4: 107,711,469 (GRCm39) |
F333L |
probably damaging |
Het |
Lyn |
T |
A |
4: 3,746,757 (GRCm39) |
D178E |
probably benign |
Het |
Magi1 |
G |
A |
6: 93,655,431 (GRCm39) |
A1405V |
probably damaging |
Het |
Magi1 |
A |
C |
6: 93,659,931 (GRCm39) |
|
probably null |
Het |
Mfsd8 |
T |
C |
3: 40,793,933 (GRCm39) |
S25G |
probably benign |
Het |
Mgat1 |
C |
A |
11: 49,152,694 (GRCm39) |
S392R |
probably benign |
Het |
Mtmr2 |
C |
T |
9: 13,713,301 (GRCm39) |
Q493* |
probably null |
Het |
Myocd |
A |
T |
11: 65,078,410 (GRCm39) |
S462T |
probably damaging |
Het |
Ndnf |
A |
G |
6: 65,681,164 (GRCm39) |
Y481C |
probably damaging |
Het |
Neb |
G |
T |
2: 52,065,138 (GRCm39) |
R6258S |
probably damaging |
Het |
Nlrp4c |
A |
G |
7: 6,063,624 (GRCm39) |
M11V |
probably benign |
Het |
Nup93 |
T |
C |
8: 95,035,604 (GRCm39) |
S658P |
possibly damaging |
Het |
Obox2 |
T |
A |
7: 15,130,771 (GRCm39) |
M1K |
probably null |
Het |
Or10ag55-ps1 |
T |
A |
2: 87,115,037 (GRCm39) |
Y134* |
probably null |
Het |
Or10g9 |
T |
A |
9: 39,912,367 (GRCm39) |
H52L |
possibly damaging |
Het |
Or1e20-ps1 |
G |
T |
11: 73,324,789 (GRCm39) |
H88N |
unknown |
Het |
Or51ag1 |
C |
T |
7: 103,155,727 (GRCm39) |
R142H |
probably benign |
Het |
Pcdh18 |
T |
A |
3: 49,710,884 (GRCm39) |
I144F |
possibly damaging |
Het |
Pcdhgb5 |
C |
T |
18: 37,864,982 (GRCm39) |
T259I |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,763,436 (GRCm39) |
T685A |
|
Het |
Pecam1 |
T |
C |
11: 106,588,121 (GRCm39) |
T139A |
possibly damaging |
Het |
Pi15 |
T |
A |
1: 17,695,178 (GRCm39) |
L265Q |
probably damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,394,173 (GRCm39) |
F2053L |
probably damaging |
Het |
Ppp1r36 |
A |
G |
12: 76,485,900 (GRCm39) |
I353V |
probably benign |
Het |
Ppp1r9a |
A |
G |
6: 5,157,004 (GRCm39) |
S961G |
probably benign |
Het |
Rbm42 |
T |
C |
7: 30,345,395 (GRCm39) |
R151G |
possibly damaging |
Het |
Rnf224 |
T |
C |
2: 25,126,354 (GRCm39) |
|
probably benign |
Het |
Scn2a |
C |
T |
2: 65,518,974 (GRCm39) |
T400I |
probably damaging |
Het |
Slc17a5 |
T |
A |
9: 78,445,562 (GRCm39) |
Q457L |
possibly damaging |
Het |
Slc5a4a |
A |
T |
10: 76,022,396 (GRCm39) |
D577V |
probably benign |
Het |
Stim2 |
A |
G |
5: 54,232,707 (GRCm39) |
D123G |
probably damaging |
Het |
Stxbp5l |
A |
G |
16: 37,061,734 (GRCm39) |
F359L |
probably benign |
Het |
Syne1 |
T |
C |
10: 5,196,386 (GRCm39) |
D3882G |
possibly damaging |
Het |
Synj1 |
G |
T |
16: 90,790,912 (GRCm39) |
S83Y |
possibly damaging |
Het |
Tfip11 |
C |
T |
5: 112,479,029 (GRCm39) |
T199I |
probably damaging |
Het |
Thoc2l |
T |
A |
5: 104,669,644 (GRCm39) |
S1389T |
probably benign |
Het |
Tiam1 |
T |
A |
16: 89,591,653 (GRCm39) |
D1349V |
probably damaging |
Het |
Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
Ucn3 |
T |
A |
13: 3,991,313 (GRCm39) |
D113V |
probably damaging |
Het |
Ugt3a1 |
A |
G |
15: 9,306,370 (GRCm39) |
D173G |
possibly damaging |
Het |
Uimc1 |
C |
A |
13: 55,188,427 (GRCm39) |
R544L |
possibly damaging |
Het |
Unc13c |
T |
C |
9: 73,536,485 (GRCm39) |
S1623G |
probably damaging |
Het |
Vmn2r41 |
T |
C |
7: 8,141,391 (GRCm39) |
N691S |
probably benign |
Het |
Wdr24 |
T |
A |
17: 26,043,190 (GRCm39) |
M4K |
probably damaging |
Het |
Wdr48 |
T |
C |
9: 119,741,454 (GRCm39) |
F332L |
probably benign |
Het |
Xpo7 |
A |
G |
14: 70,903,466 (GRCm39) |
V1080A |
probably benign |
Het |
Zc3h3 |
A |
T |
15: 75,651,261 (GRCm39) |
I653N |
probably damaging |
Het |
Zfp1005 |
A |
T |
2: 150,109,517 (GRCm39) |
H69L |
possibly damaging |
Het |
Zfp362 |
T |
A |
4: 128,688,681 (GRCm39) |
M1L |
unknown |
Het |
Zfp503 |
A |
G |
14: 22,036,041 (GRCm39) |
C292R |
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 |
|
R9665:Mdga1
|
UTSW |
17 |
30,051,991 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGGTGATGGTACCCACAG -3'
(R):5'- CTGAAATCGCTCAGTCCTCC -3'
Sequencing Primer
(F):5'- CCCTGAAGAGTTCATTTCTAGGCTAG -3'
(R):5'- GAAATCGCTCAGTCCTCCCTCTC -3'
|
Posted On |
2022-08-09 |