Incidental Mutation 'R4932:Mdga1'
ID |
380684 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mdga1
|
Ensembl Gene |
ENSMUSG00000043557 |
Gene Name |
MAM domain containing glycosylphosphatidylinositol anchor 1 |
Synonyms |
Mamdc3, 1200011I03Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.338)
|
Stock # |
R4932 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
30046930-30107557 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 30076580 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Glutamic Acid
at position 64
(G64E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126529
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073556]
[ENSMUST00000165211]
[ENSMUST00000167190]
[ENSMUST00000171691]
|
AlphaFold |
Q0PMG2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073556
AA Change: G64E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000073246 Gene: ENSMUSG00000043557 AA Change: G64E
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: G64E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132583 Gene: ENSMUSG00000043557 AA Change: G64E
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: G338E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130395 Gene: ENSMUSG00000043557 AA Change: G338E
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: G64E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126529 Gene: ENSMUSG00000043557 AA Change: G64E
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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
A |
T |
17: 36,270,342 (GRCm39) |
V616E |
possibly damaging |
Het |
Adam21 |
A |
G |
12: 81,605,692 (GRCm39) |
V690A |
probably benign |
Het |
Afg3l1 |
A |
T |
8: 124,228,119 (GRCm39) |
T635S |
probably damaging |
Het |
Ahcyl2 |
T |
A |
6: 29,890,700 (GRCm39) |
M390K |
probably benign |
Het |
Ank3 |
T |
A |
10: 69,734,053 (GRCm39) |
|
probably null |
Het |
Antkmt |
T |
G |
17: 26,010,652 (GRCm39) |
|
probably null |
Het |
Arhgef3 |
A |
T |
14: 27,106,170 (GRCm39) |
K151N |
probably damaging |
Het |
Ccr3 |
T |
G |
9: 123,829,043 (GRCm39) |
F126C |
probably damaging |
Het |
Ccser1 |
A |
G |
6: 61,695,175 (GRCm39) |
D170G |
possibly damaging |
Het |
Celsr2 |
T |
A |
3: 108,310,074 (GRCm39) |
D1552V |
probably damaging |
Het |
Cfap69 |
G |
A |
5: 5,675,820 (GRCm39) |
L265F |
probably damaging |
Het |
Chrna9 |
C |
T |
5: 66,126,533 (GRCm39) |
R92* |
probably null |
Het |
Cog3 |
A |
T |
14: 75,970,394 (GRCm39) |
V341D |
probably damaging |
Het |
Csmd1 |
C |
A |
8: 16,073,779 (GRCm39) |
R2072L |
probably damaging |
Het |
Dbf4 |
G |
T |
5: 8,448,039 (GRCm39) |
H390Q |
probably benign |
Het |
Dcaf4 |
T |
A |
12: 83,579,078 (GRCm39) |
C166S |
possibly damaging |
Het |
Dclk3 |
T |
A |
9: 111,297,110 (GRCm39) |
L218Q |
possibly damaging |
Het |
Dip2b |
T |
A |
15: 100,069,603 (GRCm39) |
W643R |
probably damaging |
Het |
Dip2c |
A |
G |
13: 9,674,008 (GRCm39) |
K1091E |
probably damaging |
Het |
Dis3 |
T |
A |
14: 99,326,340 (GRCm39) |
H415L |
probably damaging |
Het |
Dnah7a |
T |
A |
1: 53,542,737 (GRCm39) |
I2478F |
possibly damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Doc2a |
T |
C |
7: 126,447,752 (GRCm39) |
|
probably benign |
Het |
Dph5 |
A |
T |
3: 115,693,456 (GRCm39) |
M125L |
probably benign |
Het |
Dst |
A |
T |
1: 34,267,764 (GRCm39) |
T5247S |
possibly damaging |
Het |
Eno4 |
T |
G |
19: 58,952,889 (GRCm39) |
V477G |
possibly damaging |
Het |
Exosc8 |
T |
C |
3: 54,636,711 (GRCm39) |
I207V |
possibly damaging |
Het |
Fat4 |
T |
A |
3: 39,061,352 (GRCm39) |
S4312T |
probably benign |
Het |
Fgfr2 |
T |
C |
7: 129,843,007 (GRCm39) |
D126G |
probably damaging |
Het |
Fgfr4 |
A |
G |
13: 55,315,983 (GRCm39) |
T799A |
unknown |
Het |
Gcn1 |
A |
T |
5: 115,730,203 (GRCm39) |
D839V |
probably benign |
Het |
Gprin3 |
A |
G |
6: 59,331,158 (GRCm39) |
V383A |
probably benign |
Het |
Gpt |
T |
C |
15: 76,583,040 (GRCm39) |
V361A |
probably benign |
Het |
Hepacam |
G |
A |
9: 37,293,060 (GRCm39) |
C217Y |
probably damaging |
Het |
Hsp90aa1 |
A |
T |
12: 110,660,151 (GRCm39) |
Y382N |
probably damaging |
Het |
Htr2a |
T |
A |
14: 74,879,462 (GRCm39) |
N30K |
probably benign |
Het |
Jhy |
A |
T |
9: 40,872,299 (GRCm39) |
M70K |
possibly damaging |
Het |
Lrrc19 |
T |
C |
4: 94,529,174 (GRCm39) |
Y36C |
probably damaging |
Het |
Madcam1 |
C |
T |
10: 79,501,447 (GRCm39) |
Q171* |
probably null |
Het |
Mcm8 |
G |
A |
2: 132,680,629 (GRCm39) |
M544I |
probably benign |
Het |
Mmp3 |
A |
G |
9: 7,446,994 (GRCm39) |
D58G |
probably benign |
Het |
Ms4a10 |
T |
C |
19: 10,942,132 (GRCm39) |
Y123C |
probably damaging |
Het |
Ms4a4d |
T |
A |
19: 11,535,296 (GRCm39) |
I198K |
probably benign |
Het |
Mthfd1l |
A |
T |
10: 3,930,241 (GRCm39) |
D112V |
probably benign |
Het |
N4bp2l2 |
A |
C |
5: 150,566,606 (GRCm39) |
S567R |
probably benign |
Het |
Ndufaf2 |
A |
G |
13: 108,295,010 (GRCm39) |
Y32H |
probably damaging |
Het |
Nup153 |
T |
A |
13: 46,866,213 (GRCm39) |
K182* |
probably null |
Het |
Or4c100 |
A |
G |
2: 88,356,079 (GRCm39) |
T51A |
probably benign |
Het |
Or52p2 |
A |
G |
7: 102,237,623 (GRCm39) |
F109S |
probably damaging |
Het |
Or5p4 |
T |
A |
7: 107,680,781 (GRCm39) |
V260E |
probably damaging |
Het |
Otoa |
T |
C |
7: 120,754,358 (GRCm39) |
S928P |
probably damaging |
Het |
Oxct2a |
T |
C |
4: 123,216,496 (GRCm39) |
D295G |
probably benign |
Het |
P4ha2 |
C |
A |
11: 54,015,846 (GRCm39) |
T411K |
probably benign |
Het |
Plcg2 |
A |
T |
8: 118,333,822 (GRCm39) |
Q865L |
probably benign |
Het |
Prepl |
G |
T |
17: 85,385,932 (GRCm39) |
T244K |
possibly damaging |
Het |
Ptpro |
A |
T |
6: 137,388,103 (GRCm39) |
K776* |
probably null |
Het |
Rc3h2 |
T |
C |
2: 37,279,844 (GRCm39) |
K462E |
possibly damaging |
Het |
Scn10a |
A |
G |
9: 119,516,940 (GRCm39) |
|
probably null |
Het |
Serpinb1c |
A |
G |
13: 33,066,147 (GRCm39) |
V266A |
probably damaging |
Het |
Slc6a20b |
T |
A |
9: 123,433,861 (GRCm39) |
N326Y |
probably damaging |
Het |
Spcs2 |
C |
T |
7: 99,508,038 (GRCm39) |
G16D |
possibly damaging |
Het |
Spns3 |
T |
C |
11: 72,390,321 (GRCm39) |
D441G |
possibly damaging |
Het |
Srsf4 |
A |
G |
4: 131,618,556 (GRCm39) |
D49G |
probably damaging |
Het |
Tec |
A |
T |
5: 72,917,736 (GRCm39) |
C494* |
probably null |
Het |
Tecpr1 |
A |
T |
5: 144,141,476 (GRCm39) |
Y798N |
probably damaging |
Het |
Tex56 |
A |
T |
13: 35,116,613 (GRCm39) |
T121S |
possibly damaging |
Het |
Tmt1a |
T |
A |
15: 100,202,987 (GRCm39) |
F87Y |
probably benign |
Het |
Trim56 |
C |
T |
5: 137,143,343 (GRCm39) |
E58K |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,626,478 (GRCm39) |
D13146E |
probably damaging |
Het |
Ube2q1 |
A |
T |
3: 89,686,790 (GRCm39) |
K46* |
probably null |
Het |
Ucn |
G |
T |
5: 31,295,842 (GRCm39) |
T8K |
probably benign |
Het |
Usp25 |
T |
C |
16: 76,830,870 (GRCm39) |
|
probably null |
Het |
Usp48 |
A |
T |
4: 137,343,144 (GRCm39) |
Q430L |
probably benign |
Het |
Usp48 |
A |
T |
4: 137,343,145 (GRCm39) |
|
probably null |
Het |
Vill |
A |
T |
9: 118,890,579 (GRCm39) |
D164V |
probably damaging |
Het |
Vmn2r91 |
T |
A |
17: 18,356,751 (GRCm39) |
M806K |
possibly damaging |
Het |
Wdfy4 |
T |
A |
14: 32,750,970 (GRCm39) |
Y2256F |
probably damaging |
Het |
Wsb1 |
A |
G |
11: 79,141,826 (GRCm39) |
S64P |
probably damaging |
Het |
Zc3h11a |
C |
A |
1: 133,552,350 (GRCm39) |
V586F |
probably benign |
Het |
Zc3h12d |
A |
G |
10: 7,729,014 (GRCm39) |
D126G |
probably damaging |
Het |
Zfp296 |
G |
T |
7: 19,313,637 (GRCm39) |
C164F |
possibly damaging |
Het |
Zfp442 |
T |
A |
2: 150,251,635 (GRCm39) |
H89L |
possibly damaging |
Het |
Zfp82 |
T |
A |
7: 29,756,312 (GRCm39) |
|
probably null |
Het |
Zmynd8 |
A |
G |
2: 165,676,871 (GRCm39) |
V249A |
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 |
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'- TCAGGTGATGGTACCCACAG -3'
(R):5'- CTGAAATCGCTCAGTCCTCC -3'
Sequencing Primer
(F):5'- CCCTGAAGAGTTCATTTCTAGGCTAG -3'
(R):5'- GAAATCGCTCAGTCCTCCCTCTC -3'
|
Posted On |
2016-04-15 |