Incidental Mutation 'R6297:Mdga2'
| ID |
508852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mdga2
|
| Ensembl Gene |
ENSMUSG00000034912 |
| Gene Name |
MAM domain containing glycosylphosphatidylinositol anchor 2 |
| Synonyms |
Adp, 6720489L24Rik, Mamdc1, 9330209L04Rik, Mdga2 |
| MMRRC Submission |
044464-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6297 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
66466060-67222549 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66506253 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 793
(Y793H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037181]
[ENSMUST00000222167]
[ENSMUST00000222623]
[ENSMUST00000222987]
[ENSMUST00000223141]
|
| AlphaFold |
P60755 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037181
AA Change: Y869H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046761
Gene: ENSMUSG00000034912
AA Change: Y869H
| 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 |
unknown
Transcript: ENSMUST00000178814
AA Change: Y852H
|
| SMART Domains |
Protein: ENSMUSP00000137608
Gene: ENSMUSG00000034912
AA Change: Y852H
| 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 |
noncoding transcript
Transcript: ENSMUST00000221809
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222167
AA Change: Y800H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222623
AA Change: Y141H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222987
AA Change: Y141H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223141
AA Change: Y793H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223289
|
| Meta Mutation Damage Score |
0.6135 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
98% (45/46) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 122,132,530 |
V1205A |
probably benign |
Het |
| Adgra3 |
G |
A |
5: 49,960,847 |
P1120S |
probably benign |
Het |
| Ate1 |
A |
G |
7: 130,503,840 |
V316A |
probably damaging |
Het |
| Bpifa1 |
A |
G |
2: 154,144,260 |
I102V |
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,591,396 |
|
probably null |
Het |
| Ccdc47 |
T |
C |
11: 106,203,601 |
Y324C |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 165,143,644 |
K341E |
possibly damaging |
Het |
| Cenpb |
A |
G |
2: 131,178,369 |
|
probably benign |
Het |
| Dgkd |
A |
G |
1: 87,926,144 |
I570V |
possibly damaging |
Het |
| Dhx32 |
A |
T |
7: 133,742,800 |
Y27N |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,775,080 |
D1824G |
possibly damaging |
Het |
| E130309D02Rik |
A |
T |
5: 143,308,032 |
L230Q |
possibly damaging |
Het |
| Fbxo8 |
T |
A |
8: 56,569,288 |
C112S |
probably damaging |
Het |
| Fndc3a |
T |
C |
14: 72,563,540 |
D590G |
probably damaging |
Het |
| Gm19965 |
T |
A |
1: 116,822,680 |
I697N |
possibly damaging |
Het |
| Gm35911 |
A |
G |
5: 99,941,233 |
Y119C |
probably damaging |
Het |
| Greb1l |
G |
A |
18: 10,469,494 |
D170N |
probably damaging |
Het |
| Haus5 |
C |
T |
7: 30,658,976 |
W298* |
probably null |
Het |
| Igfn1 |
A |
T |
1: 135,964,661 |
|
probably null |
Het |
| Ighg2b |
T |
C |
12: 113,306,892 |
E206G |
unknown |
Het |
| Lman2 |
T |
C |
13: 55,348,431 |
N267S |
probably damaging |
Het |
| Lrfn5 |
A |
T |
12: 61,843,562 |
I546F |
probably benign |
Het |
| Lrrc4c |
T |
C |
2: 97,629,619 |
S197P |
probably damaging |
Het |
| Mbtd1 |
C |
T |
11: 93,932,232 |
H493Y |
possibly damaging |
Het |
| Mdn1 |
C |
T |
4: 32,730,054 |
R2799* |
probably null |
Het |
| Mup13 |
T |
A |
4: 61,225,635 |
I148F |
probably benign |
Het |
| Olfr1023 |
A |
G |
2: 85,886,815 |
N5S |
probably benign |
Het |
| Olfr170 |
A |
C |
16: 19,605,930 |
V246G |
possibly damaging |
Het |
| Olfr968 |
A |
T |
9: 39,772,226 |
D191E |
possibly damaging |
Het |
| Pdgfra |
A |
G |
5: 75,173,474 |
K403E |
possibly damaging |
Het |
| Pigz |
A |
T |
16: 31,944,937 |
Y271F |
probably damaging |
Het |
| Plekhg4 |
T |
C |
8: 105,377,840 |
L517P |
probably damaging |
Het |
| Rnf20 |
T |
C |
4: 49,642,132 |
L232P |
probably damaging |
Het |
| Rpa3 |
C |
A |
6: 8,256,767 |
G71* |
probably null |
Het |
| Rsf1 |
GCG |
GCGACGGCGTCG |
7: 97,579,907 |
|
probably benign |
Het |
| Rubcnl |
A |
G |
14: 75,050,144 |
T623A |
probably benign |
Het |
| Sltm |
A |
G |
9: 70,581,359 |
D597G |
probably damaging |
Het |
| Stpg2 |
T |
C |
3: 139,701,671 |
V528A |
possibly damaging |
Het |
| Supt6 |
C |
T |
11: 78,226,059 |
R589Q |
possibly damaging |
Het |
| Tas1r2 |
T |
A |
4: 139,662,050 |
M419K |
possibly damaging |
Het |
| Txndc16 |
T |
C |
14: 45,151,786 |
T486A |
probably benign |
Het |
| Vmn1r185 |
A |
G |
7: 26,611,621 |
V153A |
probably benign |
Het |
| Vmn2r48 |
T |
C |
7: 9,934,880 |
N548D |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,344,046 |
I378T |
possibly damaging |
Het |
| Wdr37 |
A |
G |
13: 8,842,728 |
|
probably null |
Het |
| Xrn2 |
G |
A |
2: 147,026,570 |
R181H |
probably damaging |
Het |
| Ylpm1 |
C |
G |
12: 85,015,277 |
P651A |
unknown |
Het |
|
| Other mutations in Mdga2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01343:Mdga2
|
APN |
12 |
66,723,109 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01632:Mdga2
|
APN |
12 |
66,629,898 (GRCm38) |
splice site |
probably benign |
|
|
IGL01843:Mdga2
|
APN |
12 |
66,723,131 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL02230:Mdga2
|
APN |
12 |
66,655,423 (GRCm38) |
nonsense |
probably null |
|
|
IGL02348:Mdga2
|
APN |
12 |
66,550,575 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02473:Mdga2
|
APN |
12 |
66,550,611 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
IGL02795:Mdga2
|
APN |
12 |
66,689,432 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02901:Mdga2
|
APN |
12 |
66,797,809 (GRCm38) |
splice site |
probably benign |
|
|
IGL03373:Mdga2
|
APN |
12 |
66,716,722 (GRCm38) |
missense |
probably damaging |
0.99 |
|
PIT4362001:Mdga2
|
UTSW |
12 |
66,797,768 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
PIT4377001:Mdga2
|
UTSW |
12 |
66,716,695 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0106:Mdga2
|
UTSW |
12 |
66,716,706 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0106:Mdga2
|
UTSW |
12 |
66,716,706 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0110:Mdga2
|
UTSW |
12 |
66,470,926 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R0218:Mdga2
|
UTSW |
12 |
66,655,120 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0450:Mdga2
|
UTSW |
12 |
66,470,926 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R0801:Mdga2
|
UTSW |
12 |
66,486,733 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0847:Mdga2
|
UTSW |
12 |
66,723,080 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1056:Mdga2
|
UTSW |
12 |
66,723,120 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1086:Mdga2
|
UTSW |
12 |
66,506,102 (GRCm38) |
splice site |
probably benign |
|
|
R1335:Mdga2
|
UTSW |
12 |
66,716,742 (GRCm38) |
splice site |
probably null |
|
|
R1382:Mdga2
|
UTSW |
12 |
66,470,916 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R1490:Mdga2
|
UTSW |
12 |
66,797,756 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1521:Mdga2
|
UTSW |
12 |
66,568,926 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1556:Mdga2
|
UTSW |
12 |
66,550,593 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1676:Mdga2
|
UTSW |
12 |
66,568,773 (GRCm38) |
nonsense |
probably null |
|
|
R1676:Mdga2
|
UTSW |
12 |
66,568,772 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1698:Mdga2
|
UTSW |
12 |
66,689,335 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1954:Mdga2
|
UTSW |
12 |
66,486,708 (GRCm38) |
splice site |
probably benign |
|
|
R2069:Mdga2
|
UTSW |
12 |
66,568,917 (GRCm38) |
nonsense |
probably null |
|
|
R2077:Mdga2
|
UTSW |
12 |
66,655,362 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2118:Mdga2
|
UTSW |
12 |
66,868,752 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2146:Mdga2
|
UTSW |
12 |
66,868,741 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2158:Mdga2
|
UTSW |
12 |
66,689,381 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R2189:Mdga2
|
UTSW |
12 |
66,473,196 (GRCm38) |
splice site |
probably null |
|
|
R2293:Mdga2
|
UTSW |
12 |
66,568,985 (GRCm38) |
nonsense |
probably null |
|
|
R2886:Mdga2
|
UTSW |
12 |
66,506,270 (GRCm38) |
splice site |
probably benign |
|
|
R2960:Mdga2
|
UTSW |
12 |
66,629,978 (GRCm38) |
nonsense |
probably null |
|
|
R3937:Mdga2
|
UTSW |
12 |
67,221,206 (GRCm38) |
unclassified |
probably benign |
|
|
R4437:Mdga2
|
UTSW |
12 |
66,473,198 (GRCm38) |
splice site |
probably null |
|
|
R4514:Mdga2
|
UTSW |
12 |
66,716,722 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4693:Mdga2
|
UTSW |
12 |
66,797,633 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R4719:Mdga2
|
UTSW |
12 |
66,471,001 (GRCm38) |
unclassified |
probably benign |
|
|
R4744:Mdga2
|
UTSW |
12 |
66,797,727 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4756:Mdga2
|
UTSW |
12 |
66,797,653 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4781:Mdga2
|
UTSW |
12 |
66,797,622 (GRCm38) |
splice site |
probably null |
|
|
R5022:Mdga2
|
UTSW |
12 |
66,470,760 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R5108:Mdga2
|
UTSW |
12 |
66,486,741 (GRCm38) |
missense |
probably benign |
0.43 |
|
R5479:Mdga2
|
UTSW |
12 |
66,655,176 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5710:Mdga2
|
UTSW |
12 |
66,506,782 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5816:Mdga2
|
UTSW |
12 |
66,655,182 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5822:Mdga2
|
UTSW |
12 |
66,655,335 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5996:Mdga2
|
UTSW |
12 |
66,797,763 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6038:Mdga2
|
UTSW |
12 |
66,630,053 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6038:Mdga2
|
UTSW |
12 |
66,630,053 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6484:Mdga2
|
UTSW |
12 |
66,630,069 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6830:Mdga2
|
UTSW |
12 |
66,723,001 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6912:Mdga2
|
UTSW |
12 |
66,506,115 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6971:Mdga2
|
UTSW |
12 |
66,550,561 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7053:Mdga2
|
UTSW |
12 |
66,689,384 (GRCm38) |
missense |
probably benign |
0.41 |
|
R7069:Mdga2
|
UTSW |
12 |
66,486,752 (GRCm38) |
missense |
probably benign |
0.31 |
|
R7381:Mdga2
|
UTSW |
12 |
66,568,896 (GRCm38) |
missense |
probably benign |
0.44 |
|
R7474:Mdga2
|
UTSW |
12 |
66,486,761 (GRCm38) |
nonsense |
probably null |
|
|
R7559:Mdga2
|
UTSW |
12 |
66,473,229 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7581:Mdga2
|
UTSW |
12 |
66,506,255 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7596:Mdga2
|
UTSW |
12 |
66,506,123 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7745:Mdga2
|
UTSW |
12 |
66,689,351 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R7745:Mdga2
|
UTSW |
12 |
66,689,350 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7852:Mdga2
|
UTSW |
12 |
66,470,950 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R8144:Mdga2
|
UTSW |
12 |
66,655,263 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8319:Mdga2
|
UTSW |
12 |
67,221,029 (GRCm38) |
missense |
unknown |
|
|
R8715:Mdga2
|
UTSW |
12 |
66,868,752 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8977:Mdga2
|
UTSW |
12 |
66,797,635 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R9138:Mdga2
|
UTSW |
12 |
66,568,889 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R9177:Mdga2
|
UTSW |
12 |
66,470,707 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R9223:Mdga2
|
UTSW |
12 |
66,568,860 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R9248:Mdga2
|
UTSW |
12 |
66,689,452 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R9264:Mdga2
|
UTSW |
12 |
66,513,283 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9381:Mdga2
|
UTSW |
12 |
66,550,530 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R9456:Mdga2
|
UTSW |
12 |
66,568,758 (GRCm38) |
missense |
probably benign |
0.44 |
|
R9633:Mdga2
|
UTSW |
12 |
66,689,432 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1176:Mdga2
|
UTSW |
12 |
66,689,443 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1186:Mdga2
|
UTSW |
12 |
66,568,953 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTCATGCTCTGTGTGAAAC -3'
(R):5'- ACACAGTTGAGAGATCAGGC -3'
Sequencing Primer
(F):5'- ATGCTCTGTGTGAAACTTTTATTAGG -3'
(R):5'- TGAGAGATCAGGCTGTTTTTATTTAC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation