Incidental Mutation 'R7852:Mdga2'
ID |
607010 |
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 |
045905-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7852 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
66512834-67269323 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 66517724 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 37
(N37D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109575
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037181]
[ENSMUST00000113942]
[ENSMUST00000222167]
[ENSMUST00000222623]
[ENSMUST00000222987]
[ENSMUST00000223141]
|
AlphaFold |
P60755 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037181
|
SMART Domains |
Protein: ENSMUSP00000046761 Gene: ENSMUSG00000034912
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 |
possibly damaging
Transcript: ENSMUST00000113942
AA Change: N37D
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000109575 Gene: ENSMUSG00000034912 AA Change: N37D
Domain | Start | End | E-Value | Type |
transmembrane domain
|
60 |
91 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178814
|
SMART Domains |
Protein: ENSMUSP00000137608 Gene: ENSMUSG00000034912
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222623
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222987
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223141
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933415A04Rik |
GTGT |
GTGTTTGT |
11: 43,478,253 (GRCm39) |
|
probably null |
Het |
Aco1 |
A |
G |
4: 40,180,263 (GRCm39) |
D388G |
probably benign |
Het |
Adgrl1 |
T |
G |
8: 84,662,187 (GRCm39) |
L1016R |
probably damaging |
Het |
Agmo |
C |
T |
12: 37,292,051 (GRCm39) |
P4L |
possibly damaging |
Het |
Agrn |
A |
T |
4: 156,253,514 (GRCm39) |
H1792Q |
probably benign |
Het |
Arhgef40 |
C |
T |
14: 52,229,254 (GRCm39) |
L615F |
unknown |
Het |
Atp6v1b1 |
A |
T |
6: 83,729,452 (GRCm39) |
M121L |
possibly damaging |
Het |
Cd38 |
C |
A |
5: 44,058,790 (GRCm39) |
L135M |
probably damaging |
Het |
Cep152 |
A |
T |
2: 125,432,033 (GRCm39) |
N622K |
possibly damaging |
Het |
Cfhr1 |
A |
C |
1: 139,484,165 (GRCm39) |
V117G |
probably damaging |
Het |
Dnajb1 |
T |
A |
8: 84,336,834 (GRCm39) |
D201E |
probably benign |
Het |
Dpysl2 |
T |
C |
14: 67,100,092 (GRCm39) |
N48S |
probably benign |
Het |
Dsc2 |
A |
G |
18: 20,179,342 (GRCm39) |
I242T |
possibly damaging |
Het |
Eif1ad10 |
A |
C |
12: 88,216,588 (GRCm39) |
Y95D |
probably damaging |
Het |
Eif1ad3 |
G |
A |
12: 87,843,742 (GRCm39) |
V130M |
unknown |
Het |
Fam193a |
C |
A |
5: 34,568,161 (GRCm39) |
D153E |
probably benign |
Het |
Flnc |
G |
T |
6: 29,440,897 (GRCm39) |
D332Y |
probably damaging |
Het |
Fstl5 |
A |
G |
3: 76,615,275 (GRCm39) |
I779V |
probably benign |
Het |
Gm29394 |
T |
C |
15: 57,912,172 (GRCm39) |
I11V |
unknown |
Het |
Gm36864 |
ATCAGAAGTTTC |
ATC |
7: 43,886,361 (GRCm39) |
|
probably benign |
Het |
Gnpnat1 |
G |
A |
14: 45,622,110 (GRCm39) |
P28S |
probably damaging |
Het |
Grk5 |
T |
C |
19: 61,069,383 (GRCm39) |
|
probably null |
Het |
Gys2 |
A |
T |
6: 142,376,059 (GRCm39) |
F534L |
probably damaging |
Het |
Igdcc4 |
G |
A |
9: 65,027,540 (GRCm39) |
V201I |
probably benign |
Het |
Khdc4 |
T |
A |
3: 88,604,043 (GRCm39) |
S287T |
probably benign |
Het |
Kif12 |
G |
C |
4: 63,086,226 (GRCm39) |
P374A |
probably benign |
Het |
Krt16 |
A |
T |
11: 100,137,592 (GRCm39) |
I371N |
probably damaging |
Het |
Lrfn2 |
G |
A |
17: 49,376,972 (GRCm39) |
V18I |
possibly damaging |
Het |
Masp2 |
G |
A |
4: 148,687,189 (GRCm39) |
E24K |
probably benign |
Het |
Med12l |
T |
A |
3: 59,155,332 (GRCm39) |
F1171I |
probably damaging |
Het |
Med22 |
A |
T |
2: 26,800,376 (GRCm39) |
Y18N |
probably damaging |
Het |
Mfsd4b1 |
T |
C |
10: 39,879,411 (GRCm39) |
N162S |
probably benign |
Het |
Micu2 |
A |
T |
14: 58,169,710 (GRCm39) |
N213K |
probably benign |
Het |
Mpc1 |
C |
T |
17: 8,515,740 (GRCm39) |
T86I |
probably damaging |
Het |
Mto1 |
G |
T |
9: 78,356,820 (GRCm39) |
V112L |
possibly damaging |
Het |
Napepld |
C |
T |
5: 21,888,171 (GRCm39) |
V93I |
probably benign |
Het |
Nkx2-2 |
A |
T |
2: 147,026,189 (GRCm39) |
M183K |
probably damaging |
Het |
Nlrp10 |
A |
G |
7: 108,524,281 (GRCm39) |
S400P |
probably damaging |
Het |
Nynrin |
T |
C |
14: 56,108,886 (GRCm39) |
L1331P |
probably damaging |
Het |
Ofcc1 |
T |
A |
13: 40,333,915 (GRCm39) |
D392V |
probably damaging |
Het |
Or10q12 |
A |
G |
19: 13,745,874 (GRCm39) |
H56R |
probably benign |
Het |
Or11a4 |
T |
C |
17: 37,536,163 (GRCm39) |
V49A |
probably benign |
Het |
Or2ag16 |
A |
T |
7: 106,351,845 (GRCm39) |
M250K |
probably damaging |
Het |
Or6c38 |
T |
A |
10: 128,929,385 (GRCm39) |
I153F |
probably benign |
Het |
Patl2 |
C |
T |
2: 122,009,590 (GRCm39) |
|
probably benign |
Het |
Pde8b |
T |
G |
13: 95,244,205 (GRCm39) |
D78A |
probably damaging |
Het |
Pgls |
T |
A |
8: 72,047,847 (GRCm39) |
|
probably null |
Het |
Pik3c2a |
A |
G |
7: 116,016,693 (GRCm39) |
S355P |
probably benign |
Het |
Pole |
G |
A |
5: 110,454,695 (GRCm39) |
R976Q |
probably damaging |
Het |
Ppip5k2 |
A |
G |
1: 97,668,896 (GRCm39) |
L511S |
probably damaging |
Het |
Prcp |
A |
T |
7: 92,577,900 (GRCm39) |
N390Y |
probably benign |
Het |
Rpgrip1 |
T |
A |
14: 52,383,337 (GRCm39) |
N752K |
probably benign |
Het |
Rsl1d1 |
A |
G |
16: 11,021,098 (GRCm39) |
S8P |
probably benign |
Het |
S100a1 |
C |
A |
3: 90,419,392 (GRCm39) |
A18S |
probably benign |
Het |
Slc25a13 |
A |
G |
6: 6,152,461 (GRCm39) |
F92S |
probably damaging |
Het |
Slc35f3 |
T |
C |
8: 127,121,219 (GRCm39) |
I360T |
probably damaging |
Het |
Slc35f6 |
T |
C |
5: 30,814,159 (GRCm39) |
Y202H |
possibly damaging |
Het |
Sox6 |
A |
T |
7: 115,400,839 (GRCm39) |
M1K |
probably null |
Het |
Stx8 |
G |
A |
11: 67,860,611 (GRCm39) |
D11N |
probably damaging |
Het |
Vmn2r130 |
A |
G |
17: 23,282,788 (GRCm39) |
N156S |
probably benign |
Het |
Vmn2r52 |
T |
C |
7: 9,892,895 (GRCm39) |
Y748C |
probably damaging |
Het |
Vmn2r78 |
T |
A |
7: 86,569,378 (GRCm39) |
Y90* |
probably null |
Het |
Zc3h4 |
A |
G |
7: 16,156,392 (GRCm39) |
S303G |
unknown |
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 |
R5108:Mdga2
|
UTSW |
12 |
66,533,515 (GRCm39) |
missense |
probably benign |
0.43 |
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 |
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'- CCATCCTGGATAGTAGTGCATGC -3'
(R):5'- ACAAAGTCATGGCTGGTTTTG -3'
Sequencing Primer
(F):5'- CAGTTATCTAGCTTAGCCATGTGAG -3'
(R):5'- GGCTGGTTTTGTTTCAAATGAATAG -3'
|
Posted On |
2019-12-20 |