Incidental Mutation 'R0184:Mdga1'
ID |
24000 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mdga1
|
Ensembl Gene |
ENSMUSG00000043557 |
Gene Name |
MAM domain containing glycosylphosphatidylinositol anchor 1 |
Synonyms |
Mamdc3, 1200011I03Rik |
MMRRC Submission |
038449-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.362)
|
Stock # |
R0184 (G1)
|
Quality Score |
208 |
Status
|
Validated
(trace)
|
Chromosome |
17 |
Chromosomal Location |
30046930-30107557 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 30071416 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 128
(Y128H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126529
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073556]
[ENSMUST00000165211]
[ENSMUST00000167190]
[ENSMUST00000171691]
|
AlphaFold |
Q0PMG2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073556
AA Change: Y128H
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000073246 Gene: ENSMUSG00000043557 AA Change: Y128H
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: Y128H
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000132583 Gene: ENSMUSG00000043557 AA Change: Y128H
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 |
noncoding transcript
Transcript: ENSMUST00000167102
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167190
AA Change: Y402H
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000130395 Gene: ENSMUSG00000043557 AA Change: Y402H
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: Y128H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000126529 Gene: ENSMUSG00000043557 AA Change: Y128H
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 |
|
Meta Mutation Damage Score |
0.2533 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.6%
- 20x: 93.9%
|
Validation Efficiency |
66% (50/76) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
C |
A |
3: 124,212,899 (GRCm39) |
V131F |
probably damaging |
Het |
Adam28 |
T |
C |
14: 68,874,822 (GRCm39) |
D285G |
probably benign |
Het |
Akr1c13 |
A |
G |
13: 4,244,055 (GRCm39) |
E36G |
probably damaging |
Het |
Antxr2 |
A |
G |
5: 98,127,889 (GRCm39) |
L214S |
probably damaging |
Het |
Arhgap26 |
T |
A |
18: 38,750,726 (GRCm39) |
D46E |
unknown |
Het |
Armc9 |
T |
C |
1: 86,126,092 (GRCm39) |
L61P |
probably damaging |
Het |
Bicc1 |
C |
A |
10: 70,915,045 (GRCm39) |
R73L |
probably benign |
Het |
Calm2 |
T |
C |
17: 87,743,269 (GRCm39) |
N43S |
probably benign |
Het |
Cct7 |
A |
G |
6: 85,438,536 (GRCm39) |
D105G |
probably null |
Het |
Cdk18 |
T |
C |
1: 132,046,276 (GRCm39) |
N215D |
probably benign |
Het |
Cep126 |
T |
C |
9: 8,103,396 (GRCm39) |
T205A |
probably benign |
Het |
Cfap57 |
A |
T |
4: 118,456,209 (GRCm39) |
I495N |
probably damaging |
Het |
Cyp2b9 |
T |
A |
7: 25,886,432 (GRCm39) |
C152* |
probably null |
Het |
Dab2ip |
G |
A |
2: 35,608,803 (GRCm39) |
R579H |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,902,657 (GRCm39) |
V905A |
probably benign |
Het |
Eif4h |
C |
A |
5: 134,654,229 (GRCm39) |
D134Y |
possibly damaging |
Het |
Espl1 |
T |
A |
15: 102,207,651 (GRCm39) |
S372T |
probably benign |
Het |
Fat2 |
T |
A |
11: 55,187,114 (GRCm39) |
H1244L |
probably damaging |
Het |
Fbxo11 |
T |
A |
17: 88,316,101 (GRCm39) |
N443I |
probably benign |
Het |
Git2 |
G |
A |
5: 114,877,098 (GRCm39) |
T128M |
possibly damaging |
Het |
Gm10985 |
T |
A |
3: 53,752,679 (GRCm39) |
Y21N |
probably damaging |
Het |
Gm12790 |
A |
T |
4: 101,824,811 (GRCm39) |
Y152* |
probably null |
Het |
Heatr5a |
T |
C |
12: 51,956,752 (GRCm39) |
D1115G |
probably benign |
Het |
Hipk2 |
T |
C |
6: 38,695,866 (GRCm39) |
N726S |
possibly damaging |
Het |
Hrg |
T |
C |
16: 22,772,521 (GRCm39) |
|
probably null |
Het |
Iars1 |
T |
G |
13: 49,875,688 (GRCm39) |
S792A |
probably benign |
Het |
Igf1r |
A |
G |
7: 67,875,941 (GRCm39) |
N1301S |
possibly damaging |
Het |
Il22 |
A |
T |
10: 118,041,511 (GRCm39) |
I75F |
probably damaging |
Het |
Ilkap |
T |
C |
1: 91,304,027 (GRCm39) |
|
probably benign |
Het |
Ints13 |
A |
T |
6: 146,456,542 (GRCm39) |
Y435N |
probably benign |
Het |
Ints8 |
A |
C |
4: 11,218,637 (GRCm39) |
S797A |
probably benign |
Het |
Itgad |
T |
A |
7: 127,788,403 (GRCm39) |
D405E |
probably benign |
Het |
Itgam |
A |
T |
7: 127,685,230 (GRCm39) |
I448F |
probably damaging |
Het |
Klk1 |
C |
T |
7: 43,878,173 (GRCm39) |
T41I |
possibly damaging |
Het |
Mcrip1 |
T |
C |
11: 120,435,710 (GRCm39) |
M1V |
probably null |
Het |
Mtor |
G |
T |
4: 148,549,428 (GRCm39) |
R604L |
probably benign |
Het |
Or52p1 |
T |
C |
7: 104,267,447 (GRCm39) |
V187A |
probably damaging |
Het |
Or5d41 |
A |
T |
2: 88,055,124 (GRCm39) |
L84* |
probably null |
Het |
Pcdhb7 |
T |
A |
18: 37,476,443 (GRCm39) |
D526E |
probably benign |
Het |
Pip4k2a |
T |
C |
2: 18,893,939 (GRCm39) |
D139G |
probably damaging |
Het |
Pkp3 |
A |
C |
7: 140,668,280 (GRCm39) |
N536T |
probably benign |
Het |
Pla2g4c |
T |
A |
7: 13,090,145 (GRCm39) |
S524T |
probably benign |
Het |
Pno1 |
T |
C |
11: 17,161,127 (GRCm39) |
E69G |
probably benign |
Het |
Pold1 |
C |
T |
7: 44,191,139 (GRCm39) |
V231M |
probably benign |
Het |
Poli |
A |
G |
18: 70,655,802 (GRCm39) |
S248P |
probably damaging |
Het |
Ppox |
C |
T |
1: 171,107,126 (GRCm39) |
S138N |
probably damaging |
Het |
Psg20 |
T |
C |
7: 18,419,901 (GRCm39) |
E6G |
probably null |
Het |
Rbmx |
C |
T |
X: 56,436,926 (GRCm39) |
|
probably null |
Het |
Rln1 |
T |
A |
19: 29,309,336 (GRCm39) |
K148* |
probably null |
Het |
Rnf213 |
C |
T |
11: 119,305,347 (GRCm39) |
T526I |
probably damaging |
Het |
Rps6kc1 |
A |
T |
1: 190,531,290 (GRCm39) |
V904E |
probably null |
Het |
Sf3b2 |
T |
A |
19: 5,333,700 (GRCm39) |
I633F |
probably damaging |
Het |
Sfswap |
T |
A |
5: 129,584,253 (GRCm39) |
I189N |
probably damaging |
Het |
Smarca2 |
T |
A |
19: 26,669,649 (GRCm39) |
Y973* |
probably null |
Het |
Spink5 |
G |
A |
18: 44,136,265 (GRCm39) |
D559N |
probably benign |
Het |
Spty2d1 |
C |
T |
7: 46,647,322 (GRCm39) |
V536I |
possibly damaging |
Het |
Tbx3 |
T |
C |
5: 119,813,627 (GRCm39) |
I221T |
probably damaging |
Het |
Tcf20 |
T |
A |
15: 82,736,501 (GRCm39) |
D1650V |
probably damaging |
Het |
Thsd7b |
A |
G |
1: 129,358,701 (GRCm39) |
K45R |
probably benign |
Het |
Tirap |
A |
G |
9: 35,100,490 (GRCm39) |
S65P |
probably benign |
Het |
Trim25 |
C |
T |
11: 88,890,466 (GRCm39) |
P51L |
probably damaging |
Het |
Trim61 |
T |
C |
8: 65,467,069 (GRCm39) |
N64S |
probably benign |
Het |
Twf1 |
T |
A |
15: 94,478,948 (GRCm39) |
|
probably null |
Het |
Ubr4 |
A |
C |
4: 139,172,573 (GRCm39) |
T1692P |
probably damaging |
Het |
Usp3 |
A |
G |
9: 66,469,863 (GRCm39) |
M86T |
probably damaging |
Het |
Utrn |
T |
C |
10: 12,543,362 (GRCm39) |
D1762G |
probably benign |
Het |
V1rd19 |
T |
A |
7: 23,702,632 (GRCm39) |
F33I |
probably benign |
Het |
Vmn2r52 |
T |
C |
7: 9,893,265 (GRCm39) |
S625G |
probably damaging |
Het |
Vmn2r90 |
G |
A |
17: 17,947,139 (GRCm39) |
W472* |
probably null |
Het |
Vrk2 |
C |
A |
11: 26,500,046 (GRCm39) |
A56S |
probably damaging |
Het |
Yeats2 |
C |
T |
16: 20,022,435 (GRCm39) |
P620S |
possibly damaging |
Het |
Zbtb21 |
C |
T |
16: 97,751,713 (GRCm39) |
D171N |
probably damaging |
Het |
Zeb1 |
A |
T |
18: 5,766,808 (GRCm39) |
I440F |
probably damaging |
Het |
Zfp292 |
A |
G |
4: 34,819,563 (GRCm39) |
I253T |
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 |
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 |
R9665:Mdga1
|
UTSW |
17 |
30,051,991 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGGTTACATCAAGGTCCACGAGAG -3'
(R):5'- CTGTGGCATCCTAAGGGTCATGAAG -3'
Sequencing Primer
(F):5'- TGCAGAAATGGTTTAGGGAGATAC -3'
(R):5'- CATCCTAAGGGTCATGAAGGTCAG -3'
|
Posted On |
2013-04-16 |