Incidental Mutation 'R2894:Mdga1'
ID |
260722 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mdga1
|
Ensembl Gene |
ENSMUSG00000043557 |
Gene Name |
MAM domain containing glycosylphosphatidylinositol anchor 1 |
Synonyms |
Mamdc3, 1200011I03Rik |
MMRRC Submission |
040482-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.362)
|
Stock # |
R2894 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
30046930-30107557 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30071478 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 381
(Y381C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130395
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073556]
[ENSMUST00000165211]
[ENSMUST00000167190]
[ENSMUST00000171691]
|
AlphaFold |
Q0PMG2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073556
AA Change: Y107C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000073246 Gene: ENSMUSG00000043557 AA Change: Y107C
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: Y107C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000132583 Gene: ENSMUSG00000043557 AA Change: Y107C
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: Y381C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130395 Gene: ENSMUSG00000043557 AA Change: Y381C
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: Y107C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000126529 Gene: ENSMUSG00000043557 AA Change: Y107C
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Acox3 |
A |
G |
5: 35,757,192 (GRCm39) |
I344V |
probably benign |
Het |
Ank2 |
T |
C |
3: 127,041,892 (GRCm39) |
|
probably null |
Het |
Ccl4 |
C |
A |
11: 83,554,329 (GRCm39) |
|
probably null |
Het |
Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
Cdk5rap2 |
T |
C |
4: 70,208,110 (GRCm39) |
K779E |
probably benign |
Het |
Cenpu |
C |
A |
8: 47,029,384 (GRCm39) |
N212K |
probably damaging |
Het |
Dcun1d2 |
A |
T |
8: 13,328,649 (GRCm39) |
I86N |
probably damaging |
Het |
Dnah1 |
T |
A |
14: 31,020,718 (GRCm39) |
E1217V |
possibly damaging |
Het |
Dusp15 |
T |
C |
2: 152,791,005 (GRCm39) |
I31V |
probably benign |
Het |
Ern2 |
A |
C |
7: 121,780,810 (GRCm39) |
S114A |
possibly damaging |
Het |
F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
Fmo6 |
C |
T |
1: 162,750,293 (GRCm39) |
W254* |
probably null |
Het |
Gm16494 |
T |
C |
17: 47,327,632 (GRCm39) |
E84G |
unknown |
Het |
Kdr |
A |
G |
5: 76,107,496 (GRCm39) |
F1016L |
probably damaging |
Het |
Lrrc37a |
G |
A |
11: 103,388,690 (GRCm39) |
T2245I |
unknown |
Het |
Msh3 |
G |
T |
13: 92,478,868 (GRCm39) |
A367D |
probably benign |
Het |
Nadk |
A |
G |
4: 155,671,817 (GRCm39) |
N232S |
possibly damaging |
Het |
Or51e1 |
A |
G |
7: 102,358,882 (GRCm39) |
T139A |
probably damaging |
Het |
Or7g29 |
A |
T |
9: 19,286,588 (GRCm39) |
Y196* |
probably null |
Het |
Per2 |
C |
A |
1: 91,373,325 (GRCm39) |
Q154H |
probably damaging |
Het |
Pik3ap1 |
G |
A |
19: 41,364,500 (GRCm39) |
A73V |
probably benign |
Het |
Pramel16 |
A |
T |
4: 143,675,692 (GRCm39) |
M378K |
probably damaging |
Het |
Rad18 |
G |
A |
6: 112,652,734 (GRCm39) |
Q288* |
probably null |
Het |
Rarb |
T |
C |
14: 16,435,146 (GRCm38) |
D300G |
probably damaging |
Het |
Ruvbl1 |
C |
T |
6: 88,456,114 (GRCm39) |
R63W |
possibly damaging |
Het |
Setdb2 |
T |
C |
14: 59,663,916 (GRCm39) |
N77S |
probably benign |
Het |
Slc22a19 |
C |
A |
19: 7,670,169 (GRCm39) |
K228N |
probably benign |
Het |
Thoc6 |
A |
G |
17: 23,888,009 (GRCm39) |
S292P |
probably damaging |
Het |
Tmem126b |
A |
T |
7: 90,120,121 (GRCm39) |
S83R |
probably damaging |
Het |
Tmem232 |
C |
T |
17: 65,757,408 (GRCm39) |
E262K |
probably damaging |
Het |
Vmn2r60 |
T |
C |
7: 41,785,220 (GRCm39) |
V144A |
probably benign |
Het |
Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
Vwa8 |
A |
G |
14: 79,275,578 (GRCm39) |
N787S |
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 |
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 |
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'- AGAGGTCTTTCCAGCCCTTC -3'
(R):5'- TCCTAAGGGTCATGAAGGTCAG -3'
Sequencing Primer
(F):5'- GAGGTCTTTCCAGCCCTTCACTAC -3'
(R):5'- TACCCTGGAGAGCATGGG -3'
|
Posted On |
2015-01-23 |