Incidental Mutation 'R7838:Mdga1'
| ID |
606131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mdga1
|
| Ensembl Gene |
ENSMUSG00000043557 |
| Gene Name |
MAM domain containing glycosylphosphatidylinositol anchor 1 |
| Synonyms |
Mamdc3, 1200011I03Rik |
| MMRRC Submission |
045892-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.338)
|
| Stock # |
R7838 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
30046930-30107557 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30058796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 30
(I30T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126571
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073556]
[ENSMUST00000167190]
[ENSMUST00000168044]
[ENSMUST00000171691]
|
| AlphaFold |
Q0PMG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073556
AA Change: I737T
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000073246
Gene: ENSMUSG00000043557
AA Change: I737T
| 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: 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 benign
Transcript: ENSMUST00000168044
AA Change: I30T
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000126571
Gene: ENSMUSG00000043557
AA Change: I30T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAM
|
47 |
186 |
3.1e-41 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171691
AA Change: I737T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126529
Gene: ENSMUSG00000043557
AA Change: I737T
| 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 |
0.0598 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (64/65) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
G |
A |
10: 87,042,061 (GRCm39) |
|
probably null |
Het |
| 4930522H14Rik |
G |
A |
4: 109,362,776 (GRCm39) |
A181V |
probably damaging |
Het |
| Alk |
A |
T |
17: 72,274,549 (GRCm39) |
H587Q |
possibly damaging |
Het |
| Ascc3 |
A |
G |
10: 50,604,393 (GRCm39) |
Y1371C |
probably benign |
Het |
| Asxl1 |
T |
C |
2: 153,238,733 (GRCm39) |
F354S |
probably damaging |
Het |
| Cachd1 |
A |
T |
4: 100,824,211 (GRCm39) |
I551F |
possibly damaging |
Het |
| Cacna1e |
T |
C |
1: 154,347,149 (GRCm39) |
E1068G |
probably benign |
Het |
| Cdc27 |
A |
T |
11: 104,403,830 (GRCm39) |
M644K |
probably damaging |
Het |
| Chl1 |
T |
C |
6: 103,668,635 (GRCm39) |
V456A |
probably benign |
Het |
| Ctxn1 |
A |
G |
8: 4,308,461 (GRCm39) |
Y57H |
probably damaging |
Het |
| Cyp2c54 |
A |
G |
19: 40,058,688 (GRCm39) |
I248T |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,211,834 (GRCm39) |
T1878A |
probably benign |
Het |
| Ddi2 |
A |
G |
4: 141,412,561 (GRCm39) |
V117A |
probably benign |
Het |
| Dennd5a |
G |
T |
7: 109,533,196 (GRCm39) |
F191L |
probably benign |
Het |
| Dnm3 |
C |
T |
1: 161,819,619 (GRCm39) |
R851H |
possibly damaging |
Het |
| Eif3l |
G |
A |
15: 78,973,799 (GRCm39) |
D405N |
possibly damaging |
Het |
| Espn |
T |
A |
4: 152,215,738 (GRCm39) |
D507V |
possibly damaging |
Het |
| Fam83f |
A |
T |
15: 80,576,704 (GRCm39) |
S452C |
possibly damaging |
Het |
| Fbxo22 |
A |
C |
9: 55,125,651 (GRCm39) |
E171D |
probably damaging |
Het |
| Fgl2 |
T |
C |
5: 21,577,752 (GRCm39) |
V13A |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,807,044 (GRCm39) |
H1121R |
probably benign |
Het |
| G0s2 |
A |
T |
1: 192,955,081 (GRCm39) |
M1K |
probably null |
Het |
| Gnptab |
G |
A |
10: 88,276,254 (GRCm39) |
|
probably null |
Het |
| Grm1 |
G |
A |
10: 10,956,096 (GRCm39) |
P63S |
probably benign |
Het |
| Grsf1 |
G |
A |
5: 88,823,523 (GRCm39) |
|
probably benign |
Het |
| Hcfc1r1 |
G |
A |
17: 23,892,985 (GRCm39) |
G10D |
probably damaging |
Het |
| Hdac1-ps |
A |
C |
17: 78,799,447 (GRCm39) |
E146A |
probably damaging |
Het |
| Igsf11 |
T |
C |
16: 38,827,565 (GRCm39) |
V41A |
possibly damaging |
Het |
| Il17a |
C |
A |
1: 20,802,351 (GRCm39) |
A20E |
probably benign |
Het |
| Kcnv2 |
A |
G |
19: 27,300,332 (GRCm39) |
Y61C |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,499,697 (GRCm39) |
M481T |
possibly damaging |
Het |
| Krt40 |
A |
T |
11: 99,430,961 (GRCm39) |
C263S |
possibly damaging |
Het |
| Larp1 |
T |
C |
11: 57,938,540 (GRCm39) |
V441A |
possibly damaging |
Het |
| Lrwd1 |
T |
C |
5: 136,160,983 (GRCm39) |
E300G |
probably damaging |
Het |
| Mcoln3 |
G |
T |
3: 145,845,230 (GRCm39) |
W475C |
probably damaging |
Het |
| Mmd |
T |
A |
11: 90,158,433 (GRCm39) |
V181D |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,752,558 (GRCm38) |
L812* |
probably null |
Het |
| Mycbp2 |
T |
C |
14: 103,414,729 (GRCm39) |
D2561G |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,027,481 (GRCm39) |
E1251V |
|
Het |
| Myl12a |
G |
T |
17: 71,303,166 (GRCm39) |
N95K |
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,466,872 (GRCm39) |
|
probably null |
Het |
| Myrf |
G |
A |
19: 10,196,983 (GRCm39) |
P266S |
possibly damaging |
Het |
| Ncf1 |
A |
G |
5: 134,250,949 (GRCm39) |
V330A |
possibly damaging |
Het |
| Nfasc |
T |
C |
1: 132,533,287 (GRCm39) |
D638G |
probably damaging |
Het |
| Nkapl |
T |
C |
13: 21,651,437 (GRCm39) |
K392R |
possibly damaging |
Het |
| Or2y3 |
A |
G |
17: 38,393,293 (GRCm39) |
V192A |
probably benign |
Het |
| Or6a2 |
A |
T |
7: 106,600,514 (GRCm39) |
C184* |
probably null |
Het |
| Or8b50 |
A |
G |
9: 38,517,708 (GRCm39) |
|
probably benign |
Het |
| Pelo |
T |
A |
13: 115,226,184 (GRCm39) |
N91I |
probably damaging |
Het |
| Ptk2b |
T |
C |
14: 66,395,850 (GRCm39) |
N836D |
probably benign |
Het |
| Pwp2 |
A |
T |
10: 78,018,778 (GRCm39) |
|
probably null |
Het |
| Slc44a1 |
G |
A |
4: 53,517,657 (GRCm39) |
V127I |
probably benign |
Het |
| Snx13 |
A |
G |
12: 35,155,174 (GRCm39) |
T413A |
probably benign |
Het |
| Spaca7 |
C |
T |
8: 12,635,696 (GRCm39) |
P71S |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,609,637 (GRCm39) |
M1296K |
possibly damaging |
Het |
| Suco |
G |
A |
1: 161,656,890 (GRCm39) |
A978V |
probably benign |
Het |
| Tcerg1 |
A |
G |
18: 42,670,002 (GRCm39) |
E494G |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,997,626 (GRCm39) |
V821A |
probably benign |
Het |
| Tg |
T |
A |
15: 66,565,112 (GRCm39) |
D1151E |
probably benign |
Het |
| Trp53bp2 |
A |
G |
1: 182,283,384 (GRCm39) |
E1040G |
probably damaging |
Het |
| Ubap2 |
A |
T |
4: 41,233,655 (GRCm39) |
N79K |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Yars2 |
T |
G |
16: 16,122,385 (GRCm39) |
|
probably null |
Het |
| Ylpm1 |
A |
G |
12: 85,095,640 (GRCm39) |
I1847V |
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 |
|
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 |
|
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'- AACAAAGAGTGCCCAGGCTG -3'
(R):5'- TTTGGGCATCTGGGAACACC -3'
Sequencing Primer
(F):5'- CCAGGCTGGGGAGCAGAG -3'
(R):5'- GGAACACCCCTGTATCCAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation