Incidental Mutation 'R5108:Mdga2'
ID |
393691 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mdga2
|
Ensembl Gene |
ENSMUSG00000034912 |
Gene Name |
MAM domain containing glycosylphosphatidylinositol anchor 2 |
Synonyms |
6720489L24Rik, Mdga2, Adp, 9330209L04Rik, Mamdc1 |
MMRRC Submission |
042696-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5108 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
66512834-67269323 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 66533515 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 223
(H223Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152049
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037181]
[ENSMUST00000222167]
[ENSMUST00000222623]
[ENSMUST00000222987]
[ENSMUST00000223141]
|
AlphaFold |
P60755 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037181
AA Change: H951Q
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000046761 Gene: ENSMUSG00000034912 AA Change: H951Q
Domain | Start | End | E-Value | Type |
IGc2
|
122 |
186 |
1.38e-15 |
SMART |
IG
|
213 |
307 |
1.79e0 |
SMART |
IGc2
|
324 |
386 |
1.56e-14 |
SMART |
IGc2
|
419 |
493 |
4.43e-5 |
SMART |
low complexity region
|
495 |
507 |
N/A |
INTRINSIC |
IGc2
|
525 |
591 |
1.97e-11 |
SMART |
IG_like
|
621 |
687 |
2.5e0 |
SMART |
Blast:FN3
|
707 |
795 |
4e-40 |
BLAST |
MAM
|
812 |
990 |
3.4e-49 |
SMART |
transmembrane domain
|
999 |
1021 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101379
|
SMART Domains |
Protein: ENSMUSP00000098930 Gene: ENSMUSG00000034912
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
SCOP:d1cs6a1
|
40 |
72 |
2e-5 |
SMART |
Blast:IG
|
47 |
72 |
9e-11 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178724
|
Predicted Effect |
unknown
Transcript: ENSMUST00000178814
AA Change: H934Q
|
SMART Domains |
Protein: ENSMUSP00000137608 Gene: ENSMUSG00000034912 AA Change: H934Q
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
IGc2
|
53 |
117 |
1.38e-15 |
SMART |
IG
|
144 |
238 |
1.79e0 |
SMART |
IGc2
|
255 |
317 |
1.56e-14 |
SMART |
IGc2
|
350 |
424 |
4.43e-5 |
SMART |
low complexity region
|
426 |
438 |
N/A |
INTRINSIC |
IGc2
|
456 |
522 |
1.97e-11 |
SMART |
IG_like
|
552 |
618 |
2.5e0 |
SMART |
Blast:FN3
|
638 |
726 |
3e-40 |
BLAST |
MAM
|
736 |
914 |
1.38e-49 |
SMART |
transmembrane domain
|
923 |
945 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222167
AA Change: H882Q
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222623
AA Change: H223Q
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222736
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222987
AA Change: H223Q
PolyPhen 2
Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223141
AA Change: H875Q
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
Meta Mutation Damage Score |
0.1048 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
Validation Efficiency |
99% (79/80) |
MGI Phenotype |
PHENOTYPE: Mice that paternally inherit an allele disrupted by transgene insertion exhibit varying degrees of abnormalities in the skull, paw, and tail. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
T |
A |
6: 23,094,207 (GRCm39) |
N94Y |
probably damaging |
Het |
Ak2 |
A |
G |
4: 128,896,034 (GRCm39) |
T104A |
probably damaging |
Het |
Alox12b |
G |
T |
11: 69,048,208 (GRCm39) |
A46S |
probably benign |
Het |
Ank1 |
G |
T |
8: 23,622,571 (GRCm39) |
V1662F |
probably benign |
Het |
Anxa3 |
T |
C |
5: 96,978,273 (GRCm39) |
I219T |
possibly damaging |
Het |
Aoc1l3 |
C |
T |
6: 48,965,504 (GRCm39) |
T504I |
probably damaging |
Het |
Arhgap40 |
G |
A |
2: 158,389,599 (GRCm39) |
V588M |
probably damaging |
Het |
Arhgef38 |
T |
C |
3: 132,843,029 (GRCm39) |
T514A |
probably benign |
Het |
Ascl4 |
C |
A |
10: 85,764,422 (GRCm39) |
A23E |
probably benign |
Het |
Bcl11b |
T |
C |
12: 107,931,985 (GRCm39) |
T196A |
probably benign |
Het |
C1ra |
A |
T |
6: 124,499,881 (GRCm39) |
Y689F |
probably damaging |
Het |
Ccr3 |
A |
G |
9: 123,828,968 (GRCm39) |
N101S |
probably benign |
Het |
Cep70 |
A |
T |
9: 99,145,865 (GRCm39) |
|
probably null |
Het |
Ces1b |
A |
G |
8: 93,798,541 (GRCm39) |
V215A |
probably damaging |
Het |
Cndp1 |
A |
T |
18: 84,650,186 (GRCm39) |
I169N |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Fbxo2 |
A |
G |
4: 148,250,486 (GRCm39) |
Q275R |
probably damaging |
Het |
Fbxo44 |
T |
C |
4: 148,243,020 (GRCm39) |
N133S |
probably damaging |
Het |
Fzr1 |
C |
T |
10: 81,205,284 (GRCm39) |
|
probably benign |
Het |
Grn |
T |
C |
11: 102,325,228 (GRCm39) |
S213P |
probably benign |
Het |
Ifi203 |
A |
T |
1: 173,751,580 (GRCm39) |
C414S |
probably damaging |
Het |
Igfn1 |
C |
T |
1: 135,910,179 (GRCm39) |
R135H |
probably benign |
Het |
Kcnk10 |
T |
C |
12: 98,401,560 (GRCm39) |
M358V |
probably benign |
Het |
Kcnn2 |
A |
T |
18: 45,725,122 (GRCm39) |
Y471F |
probably damaging |
Het |
Klhl20 |
A |
T |
1: 160,926,820 (GRCm39) |
V391E |
probably damaging |
Het |
Krt1c |
C |
T |
15: 101,721,721 (GRCm39) |
G440D |
possibly damaging |
Het |
Lpin1 |
A |
T |
12: 16,623,716 (GRCm39) |
Y223N |
probably benign |
Het |
Luzp2 |
G |
A |
7: 54,915,038 (GRCm39) |
C321Y |
probably damaging |
Het |
Mcm3ap |
T |
C |
10: 76,338,536 (GRCm39) |
V1388A |
probably benign |
Het |
Mgat4e |
G |
T |
1: 134,468,961 (GRCm39) |
P361Q |
probably benign |
Het |
Mylk3 |
A |
T |
8: 86,085,721 (GRCm39) |
I208N |
possibly damaging |
Het |
Myom2 |
T |
A |
8: 15,182,667 (GRCm39) |
V1368E |
probably damaging |
Het |
Mypn |
C |
T |
10: 62,972,073 (GRCm39) |
D656N |
probably damaging |
Het |
Nat10 |
C |
A |
2: 103,562,548 (GRCm39) |
R596L |
probably damaging |
Het |
Nek8 |
T |
C |
11: 78,063,353 (GRCm39) |
D137G |
probably damaging |
Het |
Neurl1a |
A |
G |
19: 47,246,074 (GRCm39) |
K552E |
probably damaging |
Het |
Npdc1 |
C |
T |
2: 25,298,667 (GRCm39) |
H260Y |
probably damaging |
Het |
Nuggc |
A |
T |
14: 65,876,129 (GRCm39) |
I581F |
probably damaging |
Het |
Or8d23 |
T |
A |
9: 38,842,151 (GRCm39) |
I228N |
probably damaging |
Het |
P2rx6 |
T |
C |
16: 17,380,037 (GRCm39) |
Y54H |
probably damaging |
Het |
Pcmtd2 |
A |
G |
2: 181,486,216 (GRCm39) |
E112G |
probably damaging |
Het |
Pcnx4 |
G |
A |
12: 72,620,855 (GRCm39) |
V892I |
probably benign |
Het |
Pdss1 |
T |
A |
2: 22,796,895 (GRCm39) |
V136E |
possibly damaging |
Het |
Pias3 |
T |
C |
3: 96,612,253 (GRCm39) |
L561P |
possibly damaging |
Het |
Pomgnt1 |
G |
A |
4: 116,013,453 (GRCm39) |
|
probably benign |
Het |
Scn2a |
C |
T |
2: 65,518,974 (GRCm39) |
T400I |
probably damaging |
Het |
Sec24d |
T |
A |
3: 123,099,434 (GRCm39) |
|
probably null |
Het |
Sftpb |
T |
G |
6: 72,281,640 (GRCm39) |
L11R |
probably damaging |
Het |
Slc22a19 |
A |
G |
19: 7,688,536 (GRCm39) |
I8T |
probably benign |
Het |
Slc22a30 |
A |
G |
19: 8,363,790 (GRCm39) |
S266P |
probably damaging |
Het |
Slc36a2 |
C |
A |
11: 55,050,214 (GRCm39) |
G465W |
probably damaging |
Het |
Slc4a2 |
G |
A |
5: 24,644,331 (GRCm39) |
M976I |
probably damaging |
Het |
Smcr8 |
C |
T |
11: 60,670,696 (GRCm39) |
Q615* |
probably null |
Het |
Sobp |
T |
C |
10: 43,036,815 (GRCm39) |
E41G |
probably damaging |
Het |
Spopfm1 |
C |
T |
3: 94,173,142 (GRCm39) |
S50L |
probably damaging |
Het |
Spz1 |
A |
T |
13: 92,711,554 (GRCm39) |
C307* |
probably null |
Het |
Sult1d1 |
C |
T |
5: 87,711,728 (GRCm39) |
|
probably null |
Het |
Tas2r110 |
T |
C |
6: 132,845,668 (GRCm39) |
M233T |
probably damaging |
Het |
Tmc3 |
C |
A |
7: 83,269,156 (GRCm39) |
S781R |
probably damaging |
Het |
Tmem234 |
G |
T |
4: 129,495,730 (GRCm39) |
|
probably benign |
Het |
Trpm3 |
A |
T |
19: 22,882,078 (GRCm39) |
Q645L |
probably benign |
Het |
Ttn |
C |
A |
2: 76,565,055 (GRCm39) |
V28391F |
probably damaging |
Het |
Txnrd3 |
G |
T |
6: 89,650,016 (GRCm39) |
A425S |
probably benign |
Het |
Ubr1 |
C |
T |
2: 120,793,903 (GRCm39) |
G94R |
probably benign |
Het |
Ufl1 |
A |
G |
4: 25,269,026 (GRCm39) |
|
probably null |
Het |
Utp20 |
T |
C |
10: 88,604,735 (GRCm39) |
D1720G |
probably benign |
Het |
Vmn1r13 |
T |
A |
6: 57,186,901 (GRCm39) |
M20K |
probably benign |
Het |
Vmn1r61 |
A |
G |
7: 5,613,519 (GRCm39) |
I265T |
probably benign |
Het |
Zfp120 |
T |
C |
2: 149,961,862 (GRCm39) |
T29A |
probably damaging |
Het |
|
Other mutations in Mdga2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01343:Mdga2
|
APN |
12 |
66,769,883 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01632:Mdga2
|
APN |
12 |
66,676,672 (GRCm39) |
splice site |
probably benign |
|
IGL01843:Mdga2
|
APN |
12 |
66,769,905 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02230:Mdga2
|
APN |
12 |
66,702,197 (GRCm39) |
nonsense |
probably null |
|
IGL02348:Mdga2
|
APN |
12 |
66,597,349 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02473:Mdga2
|
APN |
12 |
66,597,385 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL02795:Mdga2
|
APN |
12 |
66,736,206 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02901:Mdga2
|
APN |
12 |
66,844,583 (GRCm39) |
splice site |
probably benign |
|
IGL03373:Mdga2
|
APN |
12 |
66,763,496 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4362001:Mdga2
|
UTSW |
12 |
66,844,542 (GRCm39) |
missense |
possibly damaging |
0.83 |
PIT4377001:Mdga2
|
UTSW |
12 |
66,763,469 (GRCm39) |
missense |
probably damaging |
0.99 |
R0106:Mdga2
|
UTSW |
12 |
66,763,480 (GRCm39) |
missense |
probably damaging |
1.00 |
R0106:Mdga2
|
UTSW |
12 |
66,763,480 (GRCm39) |
missense |
probably damaging |
1.00 |
R0110:Mdga2
|
UTSW |
12 |
66,517,700 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0218:Mdga2
|
UTSW |
12 |
66,701,894 (GRCm39) |
missense |
probably damaging |
1.00 |
R0450:Mdga2
|
UTSW |
12 |
66,517,700 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0801:Mdga2
|
UTSW |
12 |
66,533,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R0847:Mdga2
|
UTSW |
12 |
66,769,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R1056:Mdga2
|
UTSW |
12 |
66,769,894 (GRCm39) |
missense |
probably damaging |
0.97 |
R1086:Mdga2
|
UTSW |
12 |
66,552,876 (GRCm39) |
splice site |
probably benign |
|
R1335:Mdga2
|
UTSW |
12 |
66,763,516 (GRCm39) |
splice site |
probably null |
|
R1382:Mdga2
|
UTSW |
12 |
66,517,690 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1490:Mdga2
|
UTSW |
12 |
66,844,530 (GRCm39) |
missense |
probably benign |
0.01 |
R1521:Mdga2
|
UTSW |
12 |
66,615,700 (GRCm39) |
missense |
probably benign |
0.00 |
R1556:Mdga2
|
UTSW |
12 |
66,597,367 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1676:Mdga2
|
UTSW |
12 |
66,615,547 (GRCm39) |
nonsense |
probably null |
|
R1676:Mdga2
|
UTSW |
12 |
66,615,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R1698:Mdga2
|
UTSW |
12 |
66,736,109 (GRCm39) |
missense |
probably damaging |
0.97 |
R1954:Mdga2
|
UTSW |
12 |
66,533,482 (GRCm39) |
splice site |
probably benign |
|
R2069:Mdga2
|
UTSW |
12 |
66,615,691 (GRCm39) |
nonsense |
probably null |
|
R2077:Mdga2
|
UTSW |
12 |
66,702,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R2118:Mdga2
|
UTSW |
12 |
66,915,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R2146:Mdga2
|
UTSW |
12 |
66,915,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R2158:Mdga2
|
UTSW |
12 |
66,736,155 (GRCm39) |
missense |
possibly damaging |
0.64 |
R2189:Mdga2
|
UTSW |
12 |
66,519,970 (GRCm39) |
splice site |
probably null |
|
R2293:Mdga2
|
UTSW |
12 |
66,615,759 (GRCm39) |
nonsense |
probably null |
|
R2886:Mdga2
|
UTSW |
12 |
66,553,044 (GRCm39) |
splice site |
probably benign |
|
R2960:Mdga2
|
UTSW |
12 |
66,676,752 (GRCm39) |
nonsense |
probably null |
|
R3937:Mdga2
|
UTSW |
12 |
67,267,980 (GRCm39) |
unclassified |
probably benign |
|
R4437:Mdga2
|
UTSW |
12 |
66,519,972 (GRCm39) |
splice site |
probably null |
|
R4514:Mdga2
|
UTSW |
12 |
66,763,496 (GRCm39) |
missense |
probably damaging |
0.99 |
R4693:Mdga2
|
UTSW |
12 |
66,844,407 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4719:Mdga2
|
UTSW |
12 |
66,517,775 (GRCm39) |
unclassified |
probably benign |
|
R4744:Mdga2
|
UTSW |
12 |
66,844,501 (GRCm39) |
missense |
probably benign |
0.01 |
R4756:Mdga2
|
UTSW |
12 |
66,844,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R4781:Mdga2
|
UTSW |
12 |
66,844,396 (GRCm39) |
splice site |
probably null |
|
R5022:Mdga2
|
UTSW |
12 |
66,517,534 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5479:Mdga2
|
UTSW |
12 |
66,701,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R5710:Mdga2
|
UTSW |
12 |
66,553,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R5816:Mdga2
|
UTSW |
12 |
66,701,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R5822:Mdga2
|
UTSW |
12 |
66,702,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R5996:Mdga2
|
UTSW |
12 |
66,844,537 (GRCm39) |
missense |
probably benign |
0.00 |
R6038:Mdga2
|
UTSW |
12 |
66,676,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R6038:Mdga2
|
UTSW |
12 |
66,676,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R6297:Mdga2
|
UTSW |
12 |
66,553,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R6484:Mdga2
|
UTSW |
12 |
66,676,843 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6830:Mdga2
|
UTSW |
12 |
66,769,775 (GRCm39) |
missense |
probably damaging |
1.00 |
R6912:Mdga2
|
UTSW |
12 |
66,552,889 (GRCm39) |
missense |
probably benign |
0.01 |
R6971:Mdga2
|
UTSW |
12 |
66,597,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R7053:Mdga2
|
UTSW |
12 |
66,736,158 (GRCm39) |
missense |
probably benign |
0.41 |
R7069:Mdga2
|
UTSW |
12 |
66,533,526 (GRCm39) |
missense |
probably benign |
0.31 |
R7381:Mdga2
|
UTSW |
12 |
66,615,670 (GRCm39) |
missense |
probably benign |
0.44 |
R7474:Mdga2
|
UTSW |
12 |
66,533,535 (GRCm39) |
nonsense |
probably null |
|
R7559:Mdga2
|
UTSW |
12 |
66,520,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R7581:Mdga2
|
UTSW |
12 |
66,553,029 (GRCm39) |
missense |
probably damaging |
0.99 |
R7596:Mdga2
|
UTSW |
12 |
66,552,897 (GRCm39) |
missense |
probably damaging |
0.99 |
R7745:Mdga2
|
UTSW |
12 |
66,736,125 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7745:Mdga2
|
UTSW |
12 |
66,736,124 (GRCm39) |
missense |
probably damaging |
0.99 |
R7852:Mdga2
|
UTSW |
12 |
66,517,724 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8144:Mdga2
|
UTSW |
12 |
66,702,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R8319:Mdga2
|
UTSW |
12 |
67,267,803 (GRCm39) |
missense |
unknown |
|
R8715:Mdga2
|
UTSW |
12 |
66,915,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R8977:Mdga2
|
UTSW |
12 |
66,844,409 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9138:Mdga2
|
UTSW |
12 |
66,615,663 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9177:Mdga2
|
UTSW |
12 |
66,517,481 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9223:Mdga2
|
UTSW |
12 |
66,615,634 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9248:Mdga2
|
UTSW |
12 |
66,736,226 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9264:Mdga2
|
UTSW |
12 |
66,560,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R9381:Mdga2
|
UTSW |
12 |
66,597,304 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9456:Mdga2
|
UTSW |
12 |
66,615,532 (GRCm39) |
missense |
probably benign |
0.44 |
R9633:Mdga2
|
UTSW |
12 |
66,736,206 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Mdga2
|
UTSW |
12 |
66,736,217 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1186:Mdga2
|
UTSW |
12 |
66,615,727 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Predicted Primers |
PCR Primer
(F):5'- GATTACTATGCAAATACCTTGAGGG -3'
(R):5'- TGCTCATAAATGTTTGACCAAAGAG -3'
Sequencing Primer
(F):5'- CATGAAGGCATGTGTCACTATGC -3'
(R):5'- TGACCAAAGAGAAATAAACTTGAAGC -3'
|
Posted On |
2016-06-15 |