Incidental Mutation 'R3813:Mdga1'
| ID |
274173 |
| 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: 0.362)
|
| Stock # |
R3813 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
30046930-30107557 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30057453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 788
(P788S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073556]
[ENSMUST00000167190]
[ENSMUST00000168044]
[ENSMUST00000171691]
|
| AlphaFold |
Q0PMG2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073556
AA Change: P780S
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000073246
Gene: ENSMUSG00000043557
AA Change: P780S
| 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 |
noncoding transcript
Transcript: ENSMUST00000165528
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167190
|
| SMART Domains |
Protein: ENSMUSP00000130395
Gene: ENSMUSG00000043557
| 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: ENSMUST00000168044
AA Change: P81S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126571
Gene: ENSMUSG00000043557
AA Change: P81S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAM
|
47 |
186 |
3.1e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170786
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171691
AA Change: P788S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126529
Gene: ENSMUSG00000043557
AA Change: P788S
| 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 |
0.1392 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
T |
C |
5: 89,825,785 (GRCm39) |
D1018G |
possibly damaging |
Het |
| Adgrg1 |
T |
A |
8: 95,738,193 (GRCm39) |
L562Q |
probably benign |
Het |
| Ankrd11 |
T |
C |
8: 123,618,117 (GRCm39) |
T1891A |
probably benign |
Het |
| Arid2 |
A |
G |
15: 96,267,831 (GRCm39) |
N648S |
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cacna1s |
A |
T |
1: 136,013,085 (GRCm39) |
I312F |
probably damaging |
Het |
| Cenpj |
A |
G |
14: 56,790,679 (GRCm39) |
S457P |
probably benign |
Het |
| Cep120 |
G |
A |
18: 53,873,284 (GRCm39) |
|
probably benign |
Het |
| Cfap70 |
T |
A |
14: 20,471,190 (GRCm39) |
I493L |
possibly damaging |
Het |
| Cfap97d1 |
A |
T |
11: 101,882,314 (GRCm39) |
R106S |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 48,655,209 (GRCm39) |
D31G |
possibly damaging |
Het |
| Cstf3 |
T |
C |
2: 104,439,466 (GRCm39) |
Y54H |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,299,136 (GRCm39) |
Y3179F |
probably damaging |
Het |
| Cyp2s1 |
C |
T |
7: 25,505,291 (GRCm39) |
|
probably null |
Het |
| Dll4 |
C |
A |
2: 119,161,510 (GRCm39) |
T364N |
possibly damaging |
Het |
| Doc2g |
C |
T |
19: 4,054,466 (GRCm39) |
|
probably null |
Het |
| Etl4 |
A |
G |
2: 20,793,246 (GRCm39) |
E657G |
probably damaging |
Het |
| Fhdc1 |
A |
G |
3: 84,371,577 (GRCm39) |
|
probably null |
Het |
| Fndc1 |
T |
C |
17: 7,992,154 (GRCm39) |
H514R |
unknown |
Het |
| Gpat3 |
A |
G |
5: 101,039,505 (GRCm39) |
|
probably benign |
Het |
| H2-Q4 |
A |
G |
17: 35,602,071 (GRCm39) |
H311R |
possibly damaging |
Het |
| Hipk4 |
T |
C |
7: 27,223,372 (GRCm39) |
L144S |
probably damaging |
Het |
| Hspa4 |
G |
A |
11: 53,161,806 (GRCm39) |
P449S |
probably benign |
Het |
| Kif7 |
A |
G |
7: 79,363,638 (GRCm39) |
V90A |
probably damaging |
Het |
| Klhl38 |
T |
C |
15: 58,185,953 (GRCm39) |
I259V |
probably benign |
Het |
| Krt9 |
T |
A |
11: 100,080,503 (GRCm39) |
E414D |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lrp2 |
G |
A |
2: 69,294,923 (GRCm39) |
P3465L |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,051,972 (GRCm39) |
E260G |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,268,560 (GRCm39) |
S4689P |
probably damaging |
Het |
| Manba |
G |
A |
3: 135,269,023 (GRCm39) |
E643K |
possibly damaging |
Het |
| Mc3r |
T |
A |
2: 172,090,799 (GRCm39) |
L7Q |
probably benign |
Het |
| Or5d35 |
T |
C |
2: 87,855,105 (GRCm39) |
F13S |
probably damaging |
Het |
| Or6c70 |
T |
A |
10: 129,709,855 (GRCm39) |
Y257F |
probably damaging |
Het |
| Pcdh12 |
G |
A |
18: 38,416,667 (GRCm39) |
R153* |
probably null |
Het |
| Plk3 |
T |
C |
4: 116,990,647 (GRCm39) |
Y89C |
probably damaging |
Het |
| Prss41 |
G |
A |
17: 24,056,596 (GRCm39) |
R160* |
probably null |
Het |
| Rae1 |
T |
A |
2: 172,848,666 (GRCm39) |
|
probably benign |
Het |
| Rbm17 |
T |
A |
2: 11,600,246 (GRCm39) |
|
probably benign |
Het |
| Recql4 |
A |
T |
15: 76,588,694 (GRCm39) |
M1039K |
possibly damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slit3 |
A |
G |
11: 35,566,806 (GRCm39) |
Y1026C |
probably damaging |
Het |
| Tbl2 |
T |
A |
5: 135,185,375 (GRCm39) |
|
probably null |
Het |
| Tex2 |
G |
A |
11: 106,402,770 (GRCm39) |
T1034I |
unknown |
Het |
| Tmem241 |
A |
T |
18: 12,200,167 (GRCm39) |
|
probably benign |
Het |
| Tmtc1 |
T |
C |
6: 148,256,389 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
A |
T |
15: 72,930,242 (GRCm39) |
I38N |
probably damaging |
Het |
| Trmt1 |
T |
A |
8: 85,421,846 (GRCm39) |
|
probably benign |
Het |
| Vps37d |
G |
A |
5: 135,103,304 (GRCm39) |
Q113* |
probably null |
Het |
| Zup1 |
T |
C |
10: 33,816,218 (GRCm39) |
E242G |
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 |
|
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'- GGCAAATCAAAGAGCCTTGCAG -3'
(R):5'- AGAAAGGCTGAAGCTGAACCTC -3'
Sequencing Primer
(F):5'- CAGGGCTTAATTCAGAGTTCAGC -3'
(R):5'- GAAGCTGAACCTCATTGTGTCAC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation