Incidental Mutation 'IGL02795:Mdga2'
| ID |
359935 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mdga2
|
| Ensembl Gene |
ENSMUSG00000034912 |
| Gene Name |
MAM domain containing glycosylphosphatidylinositol anchor 2 |
| Synonyms |
Adp, 6720489L24Rik, Mamdc1, 9330209L04Rik, Mdga2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02795
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
66466060-67222549 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66689432 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 341
(T341A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037181]
[ENSMUST00000222167]
[ENSMUST00000223141]
|
| AlphaFold |
P60755 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037181
AA Change: T341A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000046761
Gene: ENSMUSG00000034912
AA Change: T341A
| 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: ENSMUST00000177690
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000137608
Gene: ENSMUSG00000034912
AA Change: T331A
| 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: T272A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223141
AA Change: T272A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,288,748 (GRCm38) |
L1391P |
probably damaging |
Het |
| Abcc3 |
G |
A |
11: 94,361,642 (GRCm38) |
|
probably benign |
Het |
| Acvr1 |
A |
G |
2: 58,462,952 (GRCm38) |
I332T |
probably damaging |
Het |
| Atp8a2 |
C |
T |
14: 60,033,742 (GRCm38) |
V247M |
probably damaging |
Het |
| Btn1a1 |
T |
C |
13: 23,460,616 (GRCm38) |
|
probably null |
Het |
| Btnl9 |
A |
T |
11: 49,174,867 (GRCm38) |
|
probably benign |
Het |
| Dbx1 |
T |
A |
7: 49,636,577 (GRCm38) |
I47F |
probably benign |
Het |
| Dnaja3 |
A |
G |
16: 4,690,073 (GRCm38) |
|
probably benign |
Het |
| Dnmt1 |
T |
C |
9: 20,927,111 (GRCm38) |
S220G |
probably benign |
Het |
| Dock9 |
A |
T |
14: 121,639,978 (GRCm38) |
M451K |
probably benign |
Het |
| Eml3 |
A |
G |
19: 8,933,778 (GRCm38) |
Y257C |
probably benign |
Het |
| Fbxw19 |
C |
A |
9: 109,495,818 (GRCm38) |
M10I |
possibly damaging |
Het |
| Flg2 |
C |
T |
3: 93,203,613 (GRCm38) |
R983W |
unknown |
Het |
| Galnt5 |
C |
A |
2: 58,027,871 (GRCm38) |
P707H |
probably damaging |
Het |
| Gba2 |
G |
T |
4: 43,578,331 (GRCm38) |
P6Q |
probably damaging |
Het |
| Gm13199 |
A |
G |
2: 5,862,673 (GRCm38) |
|
probably benign |
Het |
| Gpr45 |
C |
T |
1: 43,032,493 (GRCm38) |
R99C |
possibly damaging |
Het |
| Hecw1 |
G |
A |
13: 14,322,517 (GRCm38) |
S302L |
probably damaging |
Het |
| Hrg |
T |
C |
16: 22,957,553 (GRCm38) |
|
probably benign |
Het |
| Kdelc2 |
A |
G |
9: 53,392,105 (GRCm38) |
D99G |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 67,738,894 (GRCm38) |
|
probably null |
Het |
| Lgr4 |
T |
C |
2: 110,008,210 (GRCm38) |
|
probably benign |
Het |
| Lrrc9 |
C |
T |
12: 72,478,768 (GRCm38) |
T830M |
probably damaging |
Het |
| Mms19 |
C |
T |
19: 41,952,406 (GRCm38) |
|
probably null |
Het |
| Nectin1 |
A |
G |
9: 43,803,552 (GRCm38) |
S362G |
probably benign |
Het |
| Nlrc3 |
G |
T |
16: 3,965,285 (GRCm38) |
H87N |
probably damaging |
Het |
| Oit1 |
T |
A |
14: 8,355,497 (GRCm38) |
M113L |
probably benign |
Het |
| Olfr1018 |
T |
A |
2: 85,823,512 (GRCm38) |
C180* |
probably null |
Het |
| Olfr142 |
A |
G |
2: 90,252,562 (GRCm38) |
L142P |
probably damaging |
Het |
| Olfr183 |
G |
T |
16: 59,000,277 (GRCm38) |
L197F |
possibly damaging |
Het |
| Olfr23 |
G |
A |
11: 73,940,929 (GRCm38) |
V228I |
probably benign |
Het |
| Olfr243 |
T |
A |
7: 103,716,883 (GRCm38) |
F96L |
probably benign |
Het |
| Pcsk1 |
G |
T |
13: 75,112,620 (GRCm38) |
G321C |
probably damaging |
Het |
| Prrc2c |
G |
T |
1: 162,714,299 (GRCm38) |
P374T |
probably benign |
Het |
| Rusc1 |
A |
T |
3: 89,091,950 (GRCm38) |
L175Q |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,595,190 (GRCm38) |
N4250S |
probably benign |
Het |
| Scara5 |
A |
C |
14: 65,730,680 (GRCm38) |
N134T |
possibly damaging |
Het |
| Sema4d |
T |
C |
13: 51,703,411 (GRCm38) |
K595R |
probably benign |
Het |
| Serpinb6a |
A |
C |
13: 33,931,593 (GRCm38) |
L15R |
probably damaging |
Het |
| Setdb1 |
A |
T |
3: 95,327,373 (GRCm38) |
N1006K |
probably damaging |
Het |
| Slc18a2 |
G |
A |
19: 59,274,490 (GRCm38) |
|
probably benign |
Het |
| Slc22a30 |
C |
T |
19: 8,400,895 (GRCm38) |
C139Y |
probably damaging |
Het |
| Slc25a27 |
T |
A |
17: 43,647,112 (GRCm38) |
Y269F |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,575,419 (GRCm38) |
D611V |
probably benign |
Het |
| Spag6 |
G |
T |
2: 18,733,083 (GRCm38) |
V255F |
probably benign |
Het |
| St5 |
T |
C |
7: 109,556,364 (GRCm38) |
Y393C |
probably damaging |
Het |
| Svep1 |
C |
A |
4: 58,123,223 (GRCm38) |
G698W |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,966,549 (GRCm38) |
L2839P |
probably damaging |
Het |
| Tfb2m |
T |
C |
1: 179,545,959 (GRCm38) |
E58G |
possibly damaging |
Het |
| Trim24 |
A |
T |
6: 37,919,389 (GRCm38) |
E260D |
probably damaging |
Het |
| Ugt2b1 |
T |
A |
5: 86,917,701 (GRCm38) |
D493V |
probably damaging |
Het |
| Vmn1r27 |
A |
G |
6: 58,215,302 (GRCm38) |
V189A |
possibly damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,085,277 (GRCm38) |
Q74R |
probably benign |
Het |
| Vps25 |
A |
G |
11: 101,256,090 (GRCm38) |
Y64C |
probably damaging |
Het |
| Xirp2 |
G |
A |
2: 67,509,136 (GRCm38) |
G574S |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,837,438 (GRCm38) |
E273G |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation