Incidental Mutation 'R1545:Mdga1'
ID |
172142 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mdga1
|
Ensembl Gene |
ENSMUSG00000043557 |
Gene Name |
MAM domain containing glycosylphosphatidylinositol anchor 1 |
Synonyms |
Mamdc3, 1200011I03Rik |
MMRRC Submission |
039584-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.338)
|
Stock # |
R1545 (G1)
|
Quality Score |
90 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
30046930-30107557 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 30061876 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 792
(R792C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130395
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073556]
[ENSMUST00000167190]
[ENSMUST00000168044]
[ENSMUST00000171691]
|
AlphaFold |
Q0PMG2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073556
AA Change: R518C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000073246 Gene: ENSMUSG00000043557 AA Change: R518C
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 damaging
Transcript: ENSMUST00000167190
AA Change: R792C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000130395 Gene: ENSMUSG00000043557 AA Change: R792C
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
|
SMART Domains |
Protein: ENSMUSP00000126571 Gene: ENSMUSG00000043557
Domain | Start | End | E-Value | Type |
Pfam:MAM
|
47 |
186 |
3.1e-41 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171691
AA Change: R518C
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000126529 Gene: ENSMUSG00000043557 AA Change: R518C
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: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.6%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aaas |
C |
T |
15: 102,247,641 (GRCm39) |
R410H |
probably damaging |
Het |
Abca2 |
T |
C |
2: 25,332,370 (GRCm39) |
C1468R |
probably benign |
Het |
Actl9 |
T |
A |
17: 33,652,231 (GRCm39) |
I97N |
probably damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Asb3 |
T |
A |
11: 31,006,217 (GRCm39) |
M234K |
probably benign |
Het |
Bax |
A |
C |
7: 45,111,357 (GRCm39) |
H168Q |
probably null |
Het |
Brinp1 |
A |
G |
4: 68,681,192 (GRCm39) |
L446P |
possibly damaging |
Het |
Cdc14a |
A |
G |
3: 116,087,373 (GRCm39) |
|
probably null |
Het |
Cfap299 |
C |
A |
5: 98,477,291 (GRCm39) |
Q27K |
probably benign |
Het |
Cpq |
A |
T |
15: 33,250,146 (GRCm39) |
I168F |
probably damaging |
Het |
Crkl |
A |
T |
16: 17,301,556 (GRCm39) |
N270I |
probably damaging |
Het |
Cul7 |
G |
A |
17: 46,962,479 (GRCm39) |
E37K |
probably damaging |
Het |
Eps15 |
C |
T |
4: 109,169,526 (GRCm39) |
T112I |
probably benign |
Het |
F5 |
C |
T |
1: 164,036,529 (GRCm39) |
R1897* |
probably null |
Het |
Fbxl5 |
A |
T |
5: 43,928,140 (GRCm39) |
L40Q |
probably damaging |
Het |
Fhip1a |
C |
T |
3: 85,573,261 (GRCm39) |
S896N |
probably damaging |
Het |
Gprc5a |
C |
A |
6: 135,060,459 (GRCm39) |
T316K |
probably damaging |
Het |
Hectd4 |
T |
A |
5: 121,462,019 (GRCm39) |
L2299Q |
possibly damaging |
Het |
Khdc3 |
C |
G |
9: 73,010,942 (GRCm39) |
P240R |
probably benign |
Het |
Kif20b |
A |
G |
19: 34,906,318 (GRCm39) |
T69A |
probably damaging |
Het |
Kptn |
C |
G |
7: 15,857,888 (GRCm39) |
Q239E |
probably benign |
Het |
Lep |
T |
C |
6: 29,070,831 (GRCm39) |
S52P |
probably damaging |
Het |
Lrig3 |
G |
A |
10: 125,844,416 (GRCm39) |
V627M |
possibly damaging |
Het |
Lrrc37 |
T |
C |
11: 103,499,745 (GRCm39) |
K615E |
probably benign |
Het |
Mink1 |
T |
C |
11: 70,489,717 (GRCm39) |
V58A |
possibly damaging |
Het |
Neu1 |
G |
A |
17: 35,153,374 (GRCm39) |
R299Q |
probably benign |
Het |
Nrg3 |
T |
A |
14: 38,129,111 (GRCm39) |
I375F |
probably benign |
Het |
Nup50 |
A |
G |
15: 84,823,993 (GRCm39) |
T449A |
possibly damaging |
Het |
Nup98 |
A |
G |
7: 101,784,087 (GRCm39) |
S1082P |
possibly damaging |
Het |
Or8b1b |
C |
A |
9: 38,375,815 (GRCm39) |
H159Q |
probably benign |
Het |
Otub1 |
T |
C |
19: 7,176,571 (GRCm39) |
I188V |
probably benign |
Het |
Pcdhac2 |
T |
C |
18: 37,279,186 (GRCm39) |
I722T |
possibly damaging |
Het |
Pcsk7 |
T |
A |
9: 45,825,646 (GRCm39) |
D292E |
probably damaging |
Het |
Peli2 |
T |
A |
14: 48,490,174 (GRCm39) |
D215E |
probably benign |
Het |
Ppp1r9a |
T |
C |
6: 5,156,242 (GRCm39) |
|
probably null |
Het |
Ppp2r1b |
A |
G |
9: 50,773,725 (GRCm39) |
K136R |
possibly damaging |
Het |
Prpf3 |
T |
C |
3: 95,755,115 (GRCm39) |
K157E |
probably damaging |
Het |
Prss50 |
T |
C |
9: 110,690,336 (GRCm39) |
S160P |
probably damaging |
Het |
Ptprb |
T |
C |
10: 116,216,774 (GRCm39) |
V2251A |
probably damaging |
Het |
Rgs6 |
G |
A |
12: 83,162,951 (GRCm39) |
E386K |
probably damaging |
Het |
Rida |
A |
G |
15: 34,495,250 (GRCm39) |
I5T |
probably benign |
Het |
Rpe |
A |
G |
1: 66,740,169 (GRCm39) |
H35R |
probably damaging |
Het |
Sema4b |
T |
A |
7: 79,868,771 (GRCm39) |
D321E |
probably benign |
Het |
Slc22a13 |
G |
A |
9: 119,038,113 (GRCm39) |
A5V |
probably benign |
Het |
Snta1 |
C |
T |
2: 154,218,926 (GRCm39) |
|
probably null |
Het |
Spdye4c |
T |
A |
2: 128,437,632 (GRCm39) |
N220K |
probably benign |
Het |
Sult1c2 |
G |
T |
17: 54,269,176 (GRCm39) |
A280E |
possibly damaging |
Het |
Tfr2 |
A |
G |
5: 137,581,561 (GRCm39) |
E579G |
probably benign |
Het |
Tmem221 |
A |
G |
8: 72,011,182 (GRCm39) |
L91P |
probably damaging |
Het |
Tspear |
T |
A |
10: 77,706,253 (GRCm39) |
L341H |
possibly damaging |
Het |
Vmn1r17 |
A |
G |
6: 57,338,317 (GRCm39) |
V16A |
probably benign |
Het |
Vmn1r188 |
A |
G |
13: 22,272,603 (GRCm39) |
R186G |
probably damaging |
Het |
Wfikkn1 |
A |
G |
17: 26,097,565 (GRCm39) |
V253A |
probably 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 |
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 |
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'- AGCCTGTGAGCTTGGAGCATTGAC -3'
(R):5'- CTTCTGTAAGAAAAGCTGAGGGGCTG -3'
Sequencing Primer
(F):5'- CCTTGCTGTGCAAACTGAAG -3'
(R):5'- gcctctgctacatagcaagttc -3'
|
Posted On |
2014-04-13 |