Incidental Mutation 'R6207:Mdga1'
| ID |
503227 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mdga1
|
| Ensembl Gene |
ENSMUSG00000043557 |
| Gene Name |
MAM domain containing glycosylphosphatidylinositol anchor 1 |
| Synonyms |
Mamdc3, 1200011I03Rik |
| MMRRC Submission |
044341-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.362)
|
| Stock # |
R6207 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
30046930-30107557 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30057491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 775
(T775M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073556]
[ENSMUST00000167190]
[ENSMUST00000168044]
[ENSMUST00000171691]
|
| AlphaFold |
Q0PMG2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073556
AA Change: T767M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000073246
Gene: ENSMUSG00000043557
AA Change: T767M
| 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: T68M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126571
Gene: ENSMUSG00000043557
AA Change: T68M
| 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: T775M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126529
Gene: ENSMUSG00000043557
AA Change: T775M
| 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: 99.5%
- 20x: 98.5%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930451I11Rik |
G |
A |
7: 126,430,065 (GRCm39) |
P69S |
probably damaging |
Het |
| Abca15 |
A |
G |
7: 119,973,017 (GRCm39) |
R864G |
probably benign |
Het |
| Acbd5 |
T |
C |
2: 22,959,490 (GRCm39) |
C15R |
possibly damaging |
Het |
| Ahctf1 |
A |
T |
1: 179,604,955 (GRCm39) |
|
probably null |
Het |
| Ak3 |
T |
A |
19: 29,000,340 (GRCm39) |
K190N |
probably damaging |
Het |
| B4galnt3 |
A |
T |
6: 120,183,575 (GRCm39) |
|
probably null |
Het |
| Calcrl |
T |
C |
2: 84,163,874 (GRCm39) |
H439R |
probably benign |
Het |
| Casp7 |
T |
A |
19: 56,429,452 (GRCm39) |
D279E |
possibly damaging |
Het |
| Cckar |
A |
G |
5: 53,857,186 (GRCm39) |
V337A |
probably benign |
Het |
| Cep85l |
T |
C |
10: 53,157,651 (GRCm39) |
Y684C |
probably benign |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Homo |
| Commd7 |
T |
C |
2: 153,474,530 (GRCm39) |
N23S |
possibly damaging |
Het |
| Cpne9 |
A |
T |
6: 113,271,734 (GRCm39) |
I365F |
possibly damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dot1l |
C |
T |
10: 80,622,277 (GRCm39) |
A831V |
probably benign |
Het |
| Entrep1 |
T |
C |
19: 23,950,802 (GRCm39) |
E593G |
probably damaging |
Het |
| Epcam |
C |
A |
17: 87,947,864 (GRCm39) |
N111K |
probably damaging |
Het |
| Etnk1 |
A |
G |
6: 143,126,524 (GRCm39) |
Q123R |
probably damaging |
Het |
| Fam170a |
A |
T |
18: 50,415,017 (GRCm39) |
E221V |
probably damaging |
Het |
| Fbl |
T |
C |
7: 27,874,278 (GRCm39) |
S88P |
possibly damaging |
Het |
| Fbxo36 |
T |
A |
1: 84,874,251 (GRCm39) |
Y82* |
probably null |
Het |
| Fer1l5 |
A |
G |
1: 36,424,241 (GRCm39) |
K285R |
probably damaging |
Het |
| Foxn3 |
G |
T |
12: 99,162,569 (GRCm39) |
T444K |
probably damaging |
Het |
| Gak |
C |
T |
5: 108,772,895 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
T |
C |
10: 51,502,931 (GRCm39) |
I311V |
probably benign |
Het |
| Hrg |
T |
C |
16: 22,773,288 (GRCm39) |
|
probably null |
Het |
| Htatip2 |
G |
A |
7: 49,420,567 (GRCm39) |
V138I |
probably benign |
Het |
| Ighv1-4 |
A |
T |
12: 114,451,142 (GRCm39) |
|
probably benign |
Het |
| Kcnq2 |
T |
C |
2: 180,755,026 (GRCm39) |
M174V |
possibly damaging |
Het |
| Krt39 |
G |
T |
11: 99,412,041 (GRCm39) |
P15Q |
probably damaging |
Het |
| L1td1 |
G |
A |
4: 98,625,655 (GRCm39) |
D617N |
possibly damaging |
Het |
| Lgalsl |
T |
A |
11: 20,779,382 (GRCm39) |
K88* |
probably null |
Het |
| Lims1 |
A |
T |
10: 58,230,386 (GRCm39) |
K49M |
possibly damaging |
Het |
| Man2a1 |
T |
C |
17: 65,020,600 (GRCm39) |
V792A |
probably benign |
Het |
| Mcm2 |
G |
T |
6: 88,862,844 (GRCm39) |
D749E |
probably benign |
Het |
| Myb |
A |
G |
10: 21,021,221 (GRCm39) |
S403P |
probably benign |
Het |
| Nek6 |
T |
C |
2: 38,447,846 (GRCm39) |
S37P |
possibly damaging |
Het |
| Or10d1b |
T |
C |
9: 39,613,606 (GRCm39) |
H153R |
probably benign |
Het |
| Or14c46 |
A |
C |
7: 85,918,968 (GRCm39) |
F10V |
probably damaging |
Het |
| Or52a33 |
A |
G |
7: 103,289,209 (GRCm39) |
V46A |
probably benign |
Het |
| Or56b2j |
G |
A |
7: 104,352,818 (GRCm39) |
V15M |
probably damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
| Prune2 |
T |
A |
19: 17,095,480 (GRCm39) |
I328N |
probably damaging |
Het |
| Psap |
T |
A |
10: 60,136,317 (GRCm39) |
C484S |
probably damaging |
Het |
| Pus1 |
T |
C |
5: 110,925,580 (GRCm39) |
D80G |
probably benign |
Het |
| Rasa3 |
T |
C |
8: 13,648,251 (GRCm39) |
T138A |
possibly damaging |
Het |
| Scaf1 |
G |
T |
7: 44,657,047 (GRCm39) |
|
probably benign |
Het |
| Skap1 |
T |
A |
11: 96,594,959 (GRCm39) |
Y143* |
probably null |
Het |
| Slc22a20 |
A |
G |
19: 6,035,969 (GRCm39) |
L67P |
probably damaging |
Het |
| Slc25a17 |
T |
C |
15: 81,213,265 (GRCm39) |
Y146C |
probably damaging |
Het |
| Slfn4 |
C |
T |
11: 83,079,951 (GRCm39) |
T154I |
possibly damaging |
Het |
| Snai1 |
T |
A |
2: 167,380,229 (GRCm39) |
V7D |
probably damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,052,655 (GRCm39) |
M84K |
probably benign |
Het |
| Spop |
G |
T |
11: 95,362,063 (GRCm39) |
K31N |
possibly damaging |
Het |
| Surf1 |
T |
C |
2: 26,804,819 (GRCm39) |
T145A |
probably benign |
Het |
| Tbkbp1 |
T |
C |
11: 97,037,165 (GRCm39) |
E278G |
probably damaging |
Het |
| Thumpd2 |
G |
A |
17: 81,363,266 (GRCm39) |
A67V |
probably damaging |
Het |
| Timd4 |
A |
T |
11: 46,706,353 (GRCm39) |
M52L |
probably damaging |
Het |
| Trav16 |
A |
T |
14: 53,981,045 (GRCm39) |
N78I |
probably damaging |
Het |
| Tspan12 |
T |
C |
6: 21,799,907 (GRCm39) |
T147A |
probably damaging |
Het |
| Tulp1 |
A |
T |
17: 28,577,651 (GRCm39) |
|
probably benign |
Het |
| Ubqlnl |
A |
T |
7: 103,797,915 (GRCm39) |
N527K |
possibly damaging |
Het |
| Ubr4 |
G |
A |
4: 139,148,559 (GRCm39) |
C1681Y |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,665,910 (GRCm39) |
K1037E |
possibly damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r4 |
G |
A |
3: 64,313,926 (GRCm39) |
H352Y |
probably damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,909,616 (GRCm39) |
H47L |
probably benign |
Het |
| Vwa5a |
A |
G |
9: 38,633,968 (GRCm39) |
E57G |
probably damaging |
Het |
| Zfp180 |
A |
T |
7: 23,804,510 (GRCm39) |
R310* |
probably null |
Het |
| Zfp672 |
T |
C |
11: 58,208,349 (GRCm39) |
|
probably benign |
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 |
|
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'- ATCAGGCCAAAGCTCTGTC -3'
(R):5'- CCCAGGACCTGTTTGTTTAGAG -3'
Sequencing Primer
(F):5'- AGGCCAAAGCTCTGTCTCCTG -3'
(R):5'- TAAAGTTGGCTTAGGGATGTTAAGG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation