Incidental Mutation 'PIT4377001:Mdga2'
| ID |
554943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mdga2
|
| Ensembl Gene |
ENSMUSG00000034912 |
| Gene Name |
MAM domain containing glycosylphosphatidylinositol anchor 2 |
| Synonyms |
6720489L24Rik, Mdga2, Adp, 9330209L04Rik, Mamdc1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4377001 (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 A
at 66763469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 278
(Q278L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037181]
[ENSMUST00000222167]
[ENSMUST00000223141]
|
| AlphaFold |
P60755 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037181
AA Change: Q278L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000046761
Gene: ENSMUSG00000034912
AA Change: Q278L
| 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: Q268L
| 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: Q209L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223141
AA Change: Q209L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 92.9%
- 3x: 90.8%
- 10x: 85.9%
- 20x: 75.6%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
T |
C |
4: 39,451,129 (GRCm39) |
C112R |
possibly damaging |
Het |
| Acadl |
G |
A |
1: 66,877,564 (GRCm39) |
T329M |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,677,104 (GRCm39) |
L1909P |
probably damaging |
Het |
| Aff3 |
A |
C |
1: 38,578,044 (GRCm39) |
V31G |
probably damaging |
Het |
| Bag3 |
A |
G |
7: 128,147,441 (GRCm39) |
D352G |
probably damaging |
Het |
| Bcas3 |
A |
T |
11: 85,386,668 (GRCm39) |
T368S |
probably damaging |
Het |
| Bmp3 |
A |
G |
5: 99,027,608 (GRCm39) |
I434V |
unknown |
Het |
| Casq1 |
T |
A |
1: 172,039,568 (GRCm39) |
T336S |
probably benign |
Het |
| Cib2 |
T |
G |
9: 54,467,271 (GRCm39) |
E11A |
probably damaging |
Het |
| Cttn |
C |
A |
7: 143,993,833 (GRCm39) |
E393D |
possibly damaging |
Het |
| Dchs1 |
G |
A |
7: 105,406,795 (GRCm39) |
R2237W |
probably damaging |
Het |
| Dclre1a |
C |
T |
19: 56,532,837 (GRCm39) |
A586T |
probably benign |
Het |
| Defb1 |
C |
A |
8: 22,266,716 (GRCm39) |
Q17K |
possibly damaging |
Het |
| Dgat2 |
T |
C |
7: 98,806,342 (GRCm39) |
Y285C |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,571,404 (GRCm39) |
F732Y |
probably damaging |
Het |
| Dock2 |
T |
G |
11: 34,611,835 (GRCm39) |
D176A |
probably benign |
Het |
| Epha6 |
A |
G |
16: 60,025,915 (GRCm39) |
I509T |
probably damaging |
Het |
| Fblim1 |
C |
T |
4: 141,322,720 (GRCm39) |
R21H |
probably damaging |
Het |
| Fbxw20 |
T |
A |
9: 109,050,795 (GRCm39) |
H371L |
probably benign |
Het |
| Foxa1 |
T |
A |
12: 57,589,567 (GRCm39) |
I218F |
probably damaging |
Het |
| Fstl1 |
A |
T |
16: 37,636,167 (GRCm39) |
I53F |
probably benign |
Het |
| Gdnf |
A |
G |
15: 7,864,011 (GRCm39) |
R141G |
probably benign |
Het |
| Gemin7 |
G |
A |
7: 19,299,242 (GRCm39) |
R118* |
probably null |
Het |
| Gm43218 |
T |
C |
6: 70,217,565 (GRCm39) |
T64A |
probably benign |
Het |
| Gnat3 |
G |
A |
5: 18,220,557 (GRCm39) |
M243I |
|
Het |
| Gramd1a |
A |
T |
7: 30,843,095 (GRCm39) |
I71N |
possibly damaging |
Het |
| H4c12 |
C |
G |
13: 21,934,654 (GRCm39) |
G8R |
unknown |
Het |
| Htt |
A |
T |
5: 35,033,309 (GRCm39) |
D1859V |
probably benign |
Het |
| Hyal1 |
T |
C |
9: 107,456,468 (GRCm39) |
F415S |
probably damaging |
Het |
| Ighv1-47 |
T |
C |
12: 114,954,858 (GRCm39) |
N74S |
probably benign |
Het |
| Igkv1-131 |
T |
C |
6: 67,743,192 (GRCm39) |
R64G |
probably benign |
Het |
| Itgb1 |
T |
A |
8: 129,436,864 (GRCm39) |
V95D |
probably damaging |
Het |
| Jak1 |
A |
C |
4: 101,036,748 (GRCm39) |
N297K |
probably benign |
Het |
| Kcna4 |
T |
A |
2: 107,127,205 (GRCm39) |
N646K |
possibly damaging |
Het |
| Krt42 |
A |
G |
11: 100,153,931 (GRCm39) |
S442P |
probably damaging |
Het |
| Mcm3ap |
G |
A |
10: 76,338,596 (GRCm39) |
S1408N |
possibly damaging |
Het |
| Mkln1 |
C |
T |
6: 31,451,289 (GRCm39) |
T410M |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,552,466 (GRCm39) |
E1792G |
probably damaging |
Het |
| Ndrg1 |
A |
G |
15: 66,820,288 (GRCm39) |
C49R |
probably benign |
Het |
| Neurl4 |
A |
G |
11: 69,801,232 (GRCm39) |
H1201R |
probably benign |
Het |
| Nfasc |
T |
C |
1: 132,510,804 (GRCm39) |
Y1073C |
unknown |
Het |
| Nrbp2 |
A |
G |
15: 75,958,945 (GRCm39) |
Y253H |
probably benign |
Het |
| Or10c1 |
T |
A |
17: 37,521,980 (GRCm39) |
I255F |
probably benign |
Het |
| Or4g16 |
T |
A |
2: 111,137,225 (GRCm39) |
V225D |
probably damaging |
Het |
| Or4k45 |
T |
C |
2: 111,395,556 (GRCm39) |
T78A |
probably damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,416,466 (GRCm39) |
C1661S |
probably damaging |
Het |
| Qsox2 |
T |
G |
2: 26,110,924 (GRCm39) |
D147A |
probably damaging |
Het |
| Siglec15 |
T |
A |
18: 78,100,590 (GRCm39) |
|
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,454,900 (GRCm39) |
T1011S |
unknown |
Het |
| Slc9a2 |
A |
G |
1: 40,783,001 (GRCm39) |
T422A |
probably damaging |
Het |
| Tert |
C |
T |
13: 73,776,380 (GRCm39) |
T377I |
possibly damaging |
Het |
| Tex15 |
T |
A |
8: 34,061,129 (GRCm39) |
S186R |
probably damaging |
Het |
| Tgfb1 |
A |
G |
7: 25,396,343 (GRCm39) |
D212G |
probably benign |
Het |
| Tnc |
T |
G |
4: 63,935,973 (GRCm39) |
D321A |
probably damaging |
Het |
| Topbp1 |
G |
A |
9: 103,187,088 (GRCm39) |
E98K |
possibly damaging |
Het |
| Ugp2 |
C |
A |
11: 21,320,203 (GRCm39) |
M1I |
probably null |
Het |
| Vipr2 |
G |
A |
12: 116,058,418 (GRCm39) |
D112N |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,718,265 (GRCm39) |
E485G |
probably damaging |
Het |
| Vps37a |
T |
A |
8: 40,990,087 (GRCm39) |
I198N |
possibly damaging |
Het |
| Zbtb9 |
T |
C |
17: 27,193,735 (GRCm39) |
V380A |
probably damaging |
Het |
| Zfhx4 |
G |
C |
3: 5,307,802 (GRCm39) |
V343L |
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 |
|
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 |
|
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'- AGCTATCAACTGGCCTATAAGAAG -3'
(R):5'- TCCCCTAGGAAGCAAGTTTG -3'
Sequencing Primer
(F):5'- AGTCTAAACGACACCATCT -3'
(R):5'- CCAGTATTATGCGTAAGTACAGTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation