Incidental Mutation 'R9264:Mdga2'
| ID |
702439 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9264 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
66466060-67222549 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66513283 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 772
(N772S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037181]
[ENSMUST00000222167]
[ENSMUST00000222623]
[ENSMUST00000222987]
[ENSMUST00000223141]
|
| AlphaFold |
P60755 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037181
AA Change: N772S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046761
Gene: ENSMUSG00000034912
AA Change: N772S
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000137608
Gene: ENSMUSG00000034912
AA Change: N762S
| 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 damaging
Transcript: ENSMUST00000222167
AA Change: N703S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222623
AA Change: N44S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222987
AA Change: N44S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223141
AA Change: N703S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.1846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (58/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017D01Rik |
T |
A |
19: 11,116,466 (GRCm38) |
M1L |
probably benign |
Het |
| Abca15 |
A |
T |
7: 120,401,833 (GRCm38) |
I1531L |
probably benign |
Het |
| Adam28 |
T |
C |
14: 68,607,465 (GRCm38) |
Y791C |
probably benign |
Het |
| Ankrd40 |
T |
A |
11: 94,338,361 (GRCm38) |
I262N |
probably damaging |
Het |
| BC067074 |
G |
A |
13: 113,319,480 (GRCm38) |
V687M |
|
Het |
| Catsperg2 |
A |
T |
7: 29,698,188 (GRCm38) |
N1033K |
possibly damaging |
Het |
| Cdh10 |
A |
T |
15: 18,963,995 (GRCm38) |
D81V |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,498,016 (GRCm38) |
V310A |
possibly damaging |
Het |
| Cep78 |
T |
C |
19: 15,974,466 (GRCm38) |
Y325C |
probably damaging |
Het |
| Clstn3 |
T |
A |
6: 124,459,768 (GRCm38) |
D197V |
probably damaging |
Het |
| Col11a1 |
T |
C |
3: 114,212,160 (GRCm38) |
I1647T |
unknown |
Het |
| Col5a1 |
G |
A |
2: 27,964,111 (GRCm38) |
R569K |
unknown |
Het |
| Cyp4a10 |
T |
C |
4: 115,524,278 (GRCm38) |
S180P |
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,158,238 (GRCm38) |
I1336V |
probably benign |
Het |
| Dchs2 |
G |
A |
3: 83,270,477 (GRCm38) |
V946M |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,736,836 (GRCm38) |
R347G |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 118,027,527 (GRCm38) |
D2368V |
probably damaging |
Het |
| Ganab |
T |
C |
19: 8,912,864 (GRCm38) |
I719T |
possibly damaging |
Het |
| Gm10944 |
C |
A |
10: 10,681,839 (GRCm38) |
A11D |
unknown |
Het |
| Gmcl1 |
T |
C |
6: 86,714,213 (GRCm38) |
M267V |
probably benign |
Het |
| Inhbe |
T |
A |
10: 127,350,558 (GRCm38) |
D251V |
probably damaging |
Het |
| Kcnj1 |
G |
A |
9: 32,396,358 (GRCm38) |
R26Q |
probably benign |
Het |
| Lama5 |
A |
G |
2: 180,196,478 (GRCm38) |
|
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,667,347 (GRCm38) |
D251E |
probably damaging |
Het |
| Magel2 |
T |
A |
7: 62,378,596 (GRCm38) |
I416N |
possibly damaging |
Het |
| Msh3 |
G |
T |
13: 92,349,304 (GRCm38) |
Q171K |
probably benign |
Het |
| Mslnl |
T |
G |
17: 25,742,532 (GRCm38) |
|
probably benign |
Het |
| Mtpn |
A |
G |
6: 35,512,241 (GRCm38) |
L116P |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 54,975,997 (GRCm38) |
T1351A |
probably benign |
Het |
| Nectin3 |
A |
T |
16: 46,454,635 (GRCm38) |
I353N |
probably damaging |
Het |
| Nprl3 |
A |
T |
11: 32,233,948 (GRCm38) |
N500K |
probably benign |
Het |
| Nup93 |
T |
A |
8: 94,292,720 (GRCm38) |
I181N |
probably benign |
Het |
| Olfr1198 |
T |
C |
2: 88,746,432 (GRCm38) |
H152R |
probably damaging |
Het |
| Olfr362 |
G |
A |
2: 37,104,789 (GRCm38) |
T287I |
probably damaging |
Het |
| Optc |
T |
C |
1: 133,905,240 (GRCm38) |
I41V |
probably benign |
Het |
| Pcdh7 |
C |
A |
5: 58,129,321 (GRCm38) |
N1246K |
probably benign |
Het |
| Pcdhb3 |
T |
A |
18: 37,302,113 (GRCm38) |
D377E |
probably benign |
Het |
| Pnpla6 |
C |
T |
8: 3,523,294 (GRCm38) |
P386L |
probably benign |
Het |
| Polr3a |
T |
C |
14: 24,470,831 (GRCm38) |
T587A |
probably benign |
Het |
| Pramel1 |
T |
G |
4: 143,398,529 (GRCm38) |
L341R |
probably damaging |
Het |
| Rhot2 |
A |
T |
17: 25,841,766 (GRCm38) |
N210K |
probably damaging |
Het |
| Slc37a1 |
A |
G |
17: 31,300,485 (GRCm38) |
I12V |
probably benign |
Het |
| Spata48 |
T |
A |
11: 11,464,678 (GRCm38) |
D141E |
|
Het |
| Sstr3 |
G |
T |
15: 78,539,592 (GRCm38) |
N318K |
probably damaging |
Het |
| Ssx2ip |
T |
C |
3: 146,437,200 (GRCm38) |
V511A |
probably benign |
Het |
| Stfa1 |
G |
A |
16: 36,280,568 (GRCm38) |
V57I |
unknown |
Het |
| Syne1 |
T |
G |
10: 5,262,793 (GRCm38) |
R3265S |
probably damaging |
Het |
| Tacc2 |
G |
T |
7: 130,626,803 (GRCm38) |
K1739N |
probably damaging |
Het |
| Tas2r143 |
A |
T |
6: 42,400,739 (GRCm38) |
M168L |
probably benign |
Het |
| Tm4sf1 |
A |
T |
3: 57,294,610 (GRCm38) |
|
probably null |
Het |
| Ttc16 |
A |
G |
2: 32,763,005 (GRCm38) |
I604T |
possibly damaging |
Het |
| Ugt1a10 |
T |
A |
1: 88,055,671 (GRCm38) |
W64R |
possibly damaging |
Het |
| Usp34 |
A |
T |
11: 23,489,064 (GRCm38) |
H3561L |
|
Het |
| Vasp |
C |
T |
7: 19,259,451 (GRCm38) |
V276I |
unknown |
Het |
| Vwa3a |
A |
G |
7: 120,775,464 (GRCm38) |
N333S |
probably benign |
Het |
| Wipf3 |
A |
G |
6: 54,483,881 (GRCm38) |
N105D |
probably benign |
Het |
| Zfp760 |
T |
C |
17: 21,723,682 (GRCm38) |
S613P |
possibly damaging |
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 |
|
R6297:Mdga2
|
UTSW |
12 |
66,506,253 (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 |
|
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'- CACATTAAGCCTGTTCACACTTAC -3'
(R):5'- GCAGTTATCAAGAAACATCTGCAAG -3'
Sequencing Primer
(F):5'- ATATAACTACAATTGTGATAGGGGGC -3'
(R):5'- GGCATGCTTAATAAACTCCTAAAATG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation