Incidental Mutation 'R7637:Mdga1'
| ID |
590035 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mdga1
|
| Ensembl Gene |
ENSMUSG00000043557 |
| Gene Name |
MAM domain containing glycosylphosphatidylinositol anchor 1 |
| Synonyms |
Mamdc3, 1200011I03Rik |
| MMRRC Submission |
045695-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.338)
|
| Stock # |
R7637 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
30046930-30107557 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30051353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 934
(G934R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073556]
[ENSMUST00000168044]
[ENSMUST00000171691]
|
| AlphaFold |
Q0PMG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073556
AA Change: G926R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000073246
Gene: ENSMUSG00000043557
AA Change: G926R
| 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: ENSMUST00000168044
|
| SMART Domains |
Protein: ENSMUSP00000126571
Gene: ENSMUSG00000043557
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAM
|
47 |
186 |
3.1e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171691
AA Change: G934R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000126529
Gene: ENSMUSG00000043557
AA Change: G934R
| 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 |
0.0620 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (51/51) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,109,778 (GRCm39) |
Q651L |
probably benign |
Het |
| Adam8 |
C |
T |
7: 139,565,343 (GRCm39) |
V624I |
probably damaging |
Het |
| Cltc |
T |
C |
11: 86,621,158 (GRCm39) |
H287R |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,219,720 (GRCm39) |
K3243R |
possibly damaging |
Het |
| Dock5 |
G |
A |
14: 68,023,789 (GRCm39) |
T1124M |
possibly damaging |
Het |
| Fam8a1 |
A |
T |
13: 46,824,723 (GRCm39) |
M237L |
probably benign |
Het |
| Fars2 |
G |
T |
13: 36,388,758 (GRCm39) |
K82N |
probably benign |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gm57858 |
T |
A |
3: 36,101,025 (GRCm39) |
Q49L |
probably damaging |
Het |
| Gnat3 |
A |
G |
5: 18,208,770 (GRCm39) |
D158G |
|
Het |
| Grhl2 |
A |
C |
15: 37,328,574 (GRCm39) |
N400T |
probably damaging |
Het |
| Grin2c |
A |
T |
11: 115,147,085 (GRCm39) |
|
probably null |
Het |
| Hipk4 |
A |
G |
7: 27,222,973 (GRCm39) |
Y11C |
probably damaging |
Het |
| Hspa9 |
G |
T |
18: 35,071,740 (GRCm39) |
A620E |
not run |
Het |
| Igkv12-89 |
A |
G |
6: 68,812,083 (GRCm39) |
S29P |
probably benign |
Het |
| Itga8 |
A |
T |
2: 12,113,998 (GRCm39) |
D1039E |
probably damaging |
Het |
| Itgae |
A |
T |
11: 73,004,457 (GRCm39) |
D248V |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,520,093 (GRCm39) |
K2006E |
probably damaging |
Het |
| Litafd |
C |
T |
16: 8,501,510 (GRCm39) |
P59L |
unknown |
Het |
| Mov10 |
T |
C |
3: 104,703,201 (GRCm39) |
N896S |
probably benign |
Het |
| Ndufb6 |
A |
T |
4: 40,273,080 (GRCm39) |
|
probably null |
Het |
| Nlk |
T |
C |
11: 78,481,831 (GRCm39) |
|
probably null |
Het |
| Notch2 |
T |
A |
3: 98,053,939 (GRCm39) |
S2201T |
probably damaging |
Het |
| Or5i1 |
A |
T |
2: 87,613,778 (GRCm39) |
D298V |
probably damaging |
Het |
| Pank1 |
A |
C |
19: 34,799,388 (GRCm39) |
|
probably null |
Het |
| Pdlim3 |
T |
C |
8: 46,362,102 (GRCm39) |
F126S |
probably damaging |
Het |
| Pds5a |
C |
A |
5: 65,795,947 (GRCm39) |
G648C |
probably benign |
Het |
| Plekhh3 |
T |
C |
11: 101,055,153 (GRCm39) |
I567V |
unknown |
Het |
| Ppfia2 |
T |
C |
10: 106,701,264 (GRCm39) |
|
probably null |
Het |
| Prl3d1 |
A |
G |
13: 27,284,052 (GRCm39) |
D207G |
probably damaging |
Het |
| Prss23 |
T |
A |
7: 89,159,454 (GRCm39) |
D205V |
probably benign |
Het |
| Pygl |
C |
T |
12: 70,244,569 (GRCm39) |
|
probably null |
Het |
| Qsox2 |
A |
G |
2: 26,111,032 (GRCm39) |
F111S |
probably damaging |
Het |
| Sart3 |
T |
C |
5: 113,909,413 (GRCm39) |
N95S |
probably benign |
Het |
| Scpep1 |
A |
G |
11: 88,820,046 (GRCm39) |
F414S |
probably damaging |
Het |
| Selenbp1 |
C |
A |
3: 94,844,659 (GRCm39) |
Y105* |
probably null |
Het |
| Sirpa |
A |
G |
2: 129,458,365 (GRCm39) |
D327G |
probably benign |
Het |
| Sowahc |
G |
A |
10: 59,058,005 (GRCm39) |
R47H |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,251,025 (GRCm39) |
Y361C |
probably damaging |
Het |
| Taf3 |
A |
G |
2: 9,945,804 (GRCm39) |
V600A |
probably benign |
Het |
| Tie1 |
T |
C |
4: 118,330,175 (GRCm39) |
I1042M |
probably damaging |
Het |
| Tmem132e |
T |
A |
11: 82,325,342 (GRCm39) |
L114Q |
probably damaging |
Het |
| Tmx3 |
A |
G |
18: 90,555,233 (GRCm39) |
T317A |
probably damaging |
Het |
| Tppp3 |
A |
G |
8: 106,194,924 (GRCm39) |
V69A |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,299,267 (GRCm39) |
Y1156H |
probably damaging |
Het |
| Trank1 |
A |
C |
9: 111,194,364 (GRCm39) |
D796A |
possibly damaging |
Het |
| Tsc2 |
G |
A |
17: 24,826,466 (GRCm39) |
P928S |
probably benign |
Het |
| Unc80 |
G |
T |
1: 66,711,843 (GRCm39) |
V2722F |
possibly damaging |
Het |
| Vmn1r199 |
G |
T |
13: 22,566,845 (GRCm39) |
L46F |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,727,513 (GRCm39) |
H196Q |
probably benign |
Het |
| Wnt10a |
T |
A |
1: 74,832,633 (GRCm39) |
C75* |
probably null |
Het |
| Zfp335 |
A |
G |
2: 164,734,459 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- CTCATCAATGTAGCCAATGAAGG -3'
(R):5'- TTTAGTGTATACCTATGGCCCAGG -3'
Sequencing Primer
(F):5'- AATGAAGGCCCCCTCCCTG -3'
(R):5'- ACTGTGTGGACTGTGTGAACAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation