Incidental Mutation 'R4781:Mdga2'
| ID |
366530 |
| 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 |
042415-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4781 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
66512834-67269323 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 66844396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037181]
[ENSMUST00000222167]
[ENSMUST00000223141]
|
| AlphaFold |
P60755 |
| Predicted Effect |
probably null
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 |
noncoding transcript
Transcript: ENSMUST00000177690
|
| Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000222167
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223141
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (74/74) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
T |
A |
7: 27,271,076 (GRCm39) |
I157N |
probably damaging |
Het |
| Adgrl3 |
T |
C |
5: 81,908,571 (GRCm39) |
Y1165H |
probably damaging |
Het |
| Adra2a |
A |
G |
19: 54,034,926 (GRCm39) |
D94G |
probably damaging |
Het |
| Akr1c20 |
T |
A |
13: 4,558,174 (GRCm39) |
K197* |
probably null |
Het |
| Ankrd65 |
C |
T |
4: 155,877,493 (GRCm39) |
H335Y |
possibly damaging |
Het |
| Axin2 |
T |
A |
11: 108,834,682 (GRCm39) |
L636Q |
probably damaging |
Het |
| Camk1g |
G |
T |
1: 193,038,652 (GRCm39) |
T90N |
probably benign |
Het |
| Cd177 |
C |
A |
7: 24,450,051 (GRCm39) |
C528F |
probably damaging |
Het |
| Cntnap5a |
A |
T |
1: 116,339,931 (GRCm39) |
D730V |
possibly damaging |
Het |
| Crtap |
T |
C |
9: 114,215,304 (GRCm39) |
D195G |
probably benign |
Het |
| Csn1s2b |
A |
G |
5: 87,966,952 (GRCm39) |
S74G |
possibly damaging |
Het |
| Cyp3a16 |
T |
C |
5: 145,392,922 (GRCm39) |
R128G |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,464,367 (GRCm39) |
F3675L |
probably benign |
Het |
| Dram2 |
T |
A |
3: 106,478,992 (GRCm39) |
W195R |
probably damaging |
Het |
| E130308A19Rik |
C |
T |
4: 59,691,057 (GRCm39) |
P297L |
probably benign |
Het |
| Eif3i |
T |
C |
4: 129,489,066 (GRCm39) |
S83G |
probably benign |
Het |
| Gabra1 |
G |
A |
11: 42,024,488 (GRCm39) |
P396S |
probably damaging |
Het |
| Gipr |
T |
A |
7: 18,891,300 (GRCm39) |
Y459F |
possibly damaging |
Het |
| Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6981 |
T |
C |
9: 51,914,056 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2d |
T |
C |
7: 45,511,905 (GRCm39) |
D180G |
probably damaging |
Het |
| Hectd4 |
T |
G |
5: 121,444,170 (GRCm39) |
|
probably null |
Het |
| Hhat |
T |
C |
1: 192,369,287 (GRCm39) |
|
probably benign |
Het |
| Hoxa6 |
A |
G |
6: 52,183,400 (GRCm39) |
L215P |
possibly damaging |
Het |
| Hsf4 |
G |
A |
8: 106,001,384 (GRCm39) |
|
probably null |
Het |
| Igf1r |
G |
A |
7: 67,814,947 (GRCm39) |
A283T |
possibly damaging |
Het |
| Ighv15-2 |
A |
G |
12: 114,528,476 (GRCm39) |
S25P |
probably damaging |
Het |
| Inpp5a |
C |
T |
7: 139,057,921 (GRCm39) |
T43I |
probably benign |
Het |
| Kmt2c |
T |
A |
5: 25,648,823 (GRCm39) |
E82V |
probably damaging |
Het |
| Lrrc31 |
A |
G |
3: 30,741,526 (GRCm39) |
|
probably benign |
Het |
| Mefv |
G |
A |
16: 3,533,198 (GRCm39) |
P358S |
probably benign |
Het |
| Mrgpra9 |
A |
G |
7: 46,884,795 (GRCm39) |
F291L |
possibly damaging |
Het |
| Mtmr3 |
A |
G |
11: 4,438,435 (GRCm39) |
L673P |
probably benign |
Het |
| Muc19 |
T |
C |
15: 91,787,360 (GRCm39) |
|
noncoding transcript |
Het |
| Myo5b |
A |
T |
18: 74,877,752 (GRCm39) |
T1584S |
possibly damaging |
Het |
| Or1x6 |
A |
T |
11: 50,939,307 (GRCm39) |
R124S |
probably damaging |
Het |
| Or4z4 |
T |
C |
19: 12,076,731 (GRCm39) |
T91A |
probably benign |
Het |
| Palld |
G |
T |
8: 62,330,062 (GRCm39) |
R272S |
probably benign |
Het |
| Pcnx3 |
T |
A |
19: 5,737,158 (GRCm39) |
N144Y |
probably damaging |
Het |
| Prf1 |
A |
G |
10: 61,136,203 (GRCm39) |
K160E |
probably damaging |
Het |
| Rasgrp1 |
G |
A |
2: 117,122,190 (GRCm39) |
A400V |
probably benign |
Het |
| Rnf150 |
A |
G |
8: 83,590,781 (GRCm39) |
Y48C |
probably damaging |
Het |
| Rpl11 |
G |
T |
4: 135,777,599 (GRCm39) |
Q170K |
probably benign |
Het |
| Scin |
G |
A |
12: 40,131,763 (GRCm39) |
A257V |
possibly damaging |
Het |
| Scn7a |
C |
A |
2: 66,534,104 (GRCm39) |
A524S |
possibly damaging |
Het |
| Sim1 |
T |
C |
10: 50,859,881 (GRCm39) |
L581S |
probably benign |
Het |
| Skor1 |
T |
C |
9: 63,051,741 (GRCm39) |
T715A |
probably benign |
Het |
| Slc22a26 |
A |
G |
19: 7,767,500 (GRCm39) |
V301A |
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,171,119 (GRCm39) |
Y923C |
probably damaging |
Het |
| Src |
T |
A |
2: 157,309,405 (GRCm39) |
M304K |
possibly damaging |
Het |
| Srgap3 |
A |
T |
6: 112,734,386 (GRCm39) |
|
probably benign |
Het |
| Stard3 |
G |
A |
11: 98,263,160 (GRCm39) |
E72K |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,070,340 (GRCm39) |
N2482I |
probably damaging |
Het |
| Tbc1d23 |
T |
C |
16: 57,038,778 (GRCm39) |
K20R |
possibly damaging |
Het |
| Tcstv4 |
A |
C |
13: 120,769,698 (GRCm39) |
K6T |
possibly damaging |
Het |
| Tfip11 |
G |
A |
5: 112,481,265 (GRCm39) |
E414K |
probably damaging |
Het |
| Tinag |
G |
T |
9: 76,904,232 (GRCm39) |
T397K |
possibly damaging |
Het |
| Traf7 |
C |
G |
17: 24,729,412 (GRCm39) |
|
probably benign |
Het |
| Trmt10b |
T |
A |
4: 45,305,817 (GRCm39) |
I164N |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,884,800 (GRCm39) |
D827G |
probably benign |
Het |
| Ube2u |
A |
T |
4: 100,343,855 (GRCm39) |
T85S |
probably benign |
Het |
| Ulk4 |
T |
C |
9: 120,932,642 (GRCm39) |
D1066G |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,387,069 (GRCm39) |
I832F |
probably benign |
Het |
| Yipf1 |
A |
C |
4: 107,193,355 (GRCm39) |
E80D |
probably benign |
Het |
| Zfp40 |
T |
A |
17: 23,394,629 (GRCm39) |
R653W |
probably damaging |
Het |
| Zxdc |
A |
G |
6: 90,349,535 (GRCm39) |
T308A |
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 |
|
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 |
|
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'- ACCTATCCATGTGCAGAAGC -3'
(R):5'- ATCAGGTGGACCAAAACAGC -3'
Sequencing Primer
(F):5'- GGTCTAGCAAACTTTATATGCCCCAG -3'
(R):5'- CAGGAAGCGCCTCTGACAG -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation