Incidental Mutation 'R1671:Mdga1'
ID |
187645 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mdga1
|
Ensembl Gene |
ENSMUSG00000043557 |
Gene Name |
MAM domain containing glycosylphosphatidylinositol anchor 1 |
Synonyms |
Mamdc3, 1200011I03Rik |
MMRRC Submission |
039707-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.338)
|
Stock # |
R1671 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
30046930-30107557 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 30069603 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 422
(Y422N)
|
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: Y148N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000073246 Gene: ENSMUSG00000043557 AA Change: Y148N
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: Y148N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000132583 Gene: ENSMUSG00000043557 AA Change: Y148N
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: Y422N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130395 Gene: ENSMUSG00000043557 AA Change: Y422N
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: Y148N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126529 Gene: ENSMUSG00000043557 AA Change: Y148N
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 |
0.3683 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
100% (70/70) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930578I06Rik |
A |
C |
14: 64,210,637 (GRCm39) |
L197R |
probably benign |
Het |
Arglu1 |
A |
G |
8: 8,733,896 (GRCm39) |
V140A |
possibly damaging |
Het |
Arhgef28 |
T |
C |
13: 98,067,542 (GRCm39) |
E1461G |
possibly damaging |
Het |
Best3 |
A |
T |
10: 116,860,573 (GRCm39) |
D611V |
possibly damaging |
Het |
Cenpf |
T |
C |
1: 189,411,341 (GRCm39) |
|
probably null |
Het |
Cenpj |
A |
C |
14: 56,802,502 (GRCm39) |
M21R |
probably damaging |
Het |
Cltc |
A |
T |
11: 86,623,421 (GRCm39) |
H201Q |
possibly damaging |
Het |
Col28a1 |
A |
T |
6: 8,083,773 (GRCm39) |
N561K |
possibly damaging |
Het |
Cyp2c70 |
G |
A |
19: 40,142,081 (GRCm39) |
P470L |
probably damaging |
Het |
Cyp4f14 |
G |
A |
17: 33,135,883 (GRCm39) |
|
probably benign |
Het |
Ddi1 |
A |
T |
9: 6,266,225 (GRCm39) |
V48D |
possibly damaging |
Het |
Dnah11 |
A |
C |
12: 117,880,523 (GRCm39) |
Y3866D |
probably damaging |
Het |
Dnah9 |
A |
G |
11: 65,818,789 (GRCm39) |
V3183A |
probably damaging |
Het |
Elmo1 |
T |
A |
13: 20,472,054 (GRCm39) |
|
probably benign |
Het |
Fap |
T |
A |
2: 62,384,179 (GRCm39) |
Y9F |
possibly damaging |
Het |
Fbxo15 |
T |
A |
18: 84,977,231 (GRCm39) |
S93T |
possibly damaging |
Het |
Gal3st2 |
C |
T |
1: 93,801,400 (GRCm39) |
R19C |
probably damaging |
Het |
Gmnn |
A |
T |
13: 24,936,054 (GRCm39) |
*207R |
probably null |
Het |
Gucy1a1 |
A |
C |
3: 82,013,529 (GRCm39) |
I371S |
probably damaging |
Het |
H1f11-ps |
C |
A |
19: 47,159,294 (GRCm39) |
V94L |
possibly damaging |
Het |
Igsf10 |
G |
T |
3: 59,235,921 (GRCm39) |
S1420* |
probably null |
Het |
Itih5 |
G |
T |
2: 10,191,782 (GRCm39) |
V106L |
probably benign |
Het |
Itsn1 |
T |
A |
16: 91,609,038 (GRCm39) |
I201K |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lars2 |
C |
T |
9: 123,247,344 (GRCm39) |
T283I |
probably benign |
Het |
Loxhd1 |
T |
C |
18: 77,492,498 (GRCm39) |
I1313T |
probably damaging |
Het |
Mamdc4 |
T |
A |
2: 25,458,235 (GRCm39) |
R368* |
probably null |
Het |
Mro |
A |
T |
18: 74,003,126 (GRCm39) |
|
probably benign |
Het |
Mroh2b |
T |
C |
15: 4,980,776 (GRCm39) |
|
probably null |
Het |
Nlrp1b |
C |
A |
11: 71,092,085 (GRCm39) |
V14L |
probably benign |
Het |
Nos3 |
A |
G |
5: 24,588,838 (GRCm39) |
D1157G |
probably damaging |
Het |
Nrxn2 |
C |
A |
19: 6,523,780 (GRCm39) |
R598S |
probably damaging |
Het |
Or2av9 |
A |
T |
11: 58,381,435 (GRCm39) |
W49R |
possibly damaging |
Het |
Or4k1 |
T |
C |
14: 50,377,290 (GRCm39) |
K269E |
probably damaging |
Het |
Or52ae9 |
C |
A |
7: 103,389,617 (GRCm39) |
A277S |
possibly damaging |
Het |
Or8b101 |
A |
G |
9: 38,020,428 (GRCm39) |
M144V |
probably benign |
Het |
Otog |
A |
T |
7: 45,911,210 (GRCm39) |
D687V |
probably damaging |
Het |
Pcsk5 |
C |
T |
19: 17,432,232 (GRCm39) |
C1461Y |
probably damaging |
Het |
Raet1d |
A |
G |
10: 22,238,614 (GRCm39) |
M1V |
probably null |
Het |
Rnf6 |
A |
T |
5: 146,147,998 (GRCm39) |
L340* |
probably null |
Het |
Rsl1d1 |
T |
C |
16: 11,019,245 (GRCm39) |
T99A |
probably damaging |
Het |
Sbno1 |
A |
T |
5: 124,530,130 (GRCm39) |
|
probably null |
Het |
Sipa1l1 |
A |
G |
12: 82,444,235 (GRCm39) |
Y982C |
probably damaging |
Het |
Sorbs3 |
G |
T |
14: 70,428,915 (GRCm39) |
R417S |
possibly damaging |
Het |
Sorl1 |
A |
G |
9: 41,885,296 (GRCm39) |
C2102R |
probably damaging |
Het |
Sp140l2 |
C |
T |
1: 85,235,106 (GRCm39) |
|
probably null |
Het |
Sptbn1 |
T |
A |
11: 30,092,245 (GRCm39) |
I494F |
possibly damaging |
Het |
Tank |
T |
A |
2: 61,480,097 (GRCm39) |
V211E |
probably damaging |
Het |
Tbcd |
T |
A |
11: 121,488,120 (GRCm39) |
D840E |
probably benign |
Het |
Tg |
T |
A |
15: 66,564,236 (GRCm39) |
C1146S |
possibly damaging |
Het |
Tiam2 |
A |
T |
17: 3,557,109 (GRCm39) |
E110V |
probably damaging |
Het |
Tle4 |
A |
T |
19: 14,431,103 (GRCm39) |
W560R |
probably damaging |
Het |
Triml2 |
G |
A |
8: 43,636,780 (GRCm39) |
R76H |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,541,964 (GRCm39) |
E25347G |
probably damaging |
Het |
Ube2e2 |
A |
G |
14: 18,586,889 (GRCm38) |
L124P |
probably damaging |
Het |
Vmn2r81 |
A |
G |
10: 79,103,265 (GRCm39) |
K153E |
probably benign |
Het |
Wnt16 |
A |
T |
6: 22,298,178 (GRCm39) |
Y348F |
probably damaging |
Het |
Xpo6 |
A |
G |
7: 125,707,715 (GRCm39) |
V897A |
possibly damaging |
Het |
Zbtb26 |
T |
C |
2: 37,326,377 (GRCm39) |
T220A |
probably benign |
Het |
Zik1 |
A |
T |
7: 10,224,675 (GRCm39) |
S141T |
probably damaging |
Het |
Zkscan3 |
A |
G |
13: 21,580,305 (GRCm39) |
Y128H |
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 |
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 |
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'- TTTACCCCAAGCTGTGTGAACTCC -3'
(R):5'- CCTTTGAAAGTAGCTCTGCTCTCCG -3'
Sequencing Primer
(F):5'- TCTCACCCAGGCATGGAATTG -3'
(R):5'- TCTGCTCTCCGAGCCAAG -3'
|
Posted On |
2014-05-09 |