Incidental Mutation 'R4719:Mdga2'
| ID |
354318 |
| 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 |
041957-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4719 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
66512834-67269323 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 66517775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037181]
[ENSMUST00000113942]
[ENSMUST00000222167]
[ENSMUST00000222623]
[ENSMUST00000222987]
[ENSMUST00000223141]
|
| AlphaFold |
P60755 |
| Predicted Effect |
probably benign
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 |
unknown
Transcript: ENSMUST00000113942
AA Change: E20K
|
| SMART Domains |
Protein: ENSMUSP00000109575
Gene: ENSMUSG00000034912
AA Change: E20K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
60 |
91 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000222167
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222623
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222987
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223141
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
99% (76/77) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,089,971 (GRCm39) |
Y971C |
probably damaging |
Het |
| Actr5 |
T |
A |
2: 158,468,433 (GRCm39) |
S188T |
probably damaging |
Het |
| Adamtsl4 |
A |
G |
3: 95,586,896 (GRCm39) |
|
probably null |
Het |
| Agbl2 |
A |
G |
2: 90,645,733 (GRCm39) |
N822S |
probably benign |
Het |
| Ankdd1b |
T |
A |
13: 96,554,255 (GRCm39) |
|
probably benign |
Het |
| Arhgef40 |
C |
T |
14: 52,242,395 (GRCm39) |
|
probably benign |
Het |
| Art5 |
A |
G |
7: 101,747,701 (GRCm39) |
|
probably null |
Het |
| Atpsckmt |
T |
G |
15: 31,608,243 (GRCm39) |
V98G |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,046,390 (GRCm39) |
|
probably benign |
Het |
| Car9 |
G |
A |
4: 43,508,616 (GRCm39) |
W42* |
probably null |
Het |
| Cdh20 |
T |
C |
1: 104,862,035 (GRCm39) |
Y72H |
probably damaging |
Het |
| Ces1g |
T |
C |
8: 94,043,718 (GRCm39) |
D407G |
possibly damaging |
Het |
| Cngb3 |
T |
A |
4: 19,309,562 (GRCm39) |
D73E |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,945,451 (GRCm39) |
F888I |
probably damaging |
Het |
| Dgat2 |
T |
C |
7: 98,807,504 (GRCm39) |
D222G |
probably benign |
Het |
| Dscaml1 |
T |
C |
9: 45,583,993 (GRCm39) |
M486T |
probably benign |
Het |
| Faim2 |
C |
T |
15: 99,425,460 (GRCm39) |
|
probably null |
Het |
| Fance |
T |
C |
17: 28,537,293 (GRCm39) |
|
probably benign |
Het |
| Fancm |
G |
T |
12: 65,168,480 (GRCm39) |
M1614I |
possibly damaging |
Het |
| Fcrl5 |
A |
T |
3: 87,351,496 (GRCm39) |
N248I |
probably damaging |
Het |
| Foxo3 |
G |
A |
10: 42,073,774 (GRCm39) |
R29W |
probably damaging |
Het |
| Gabbr2 |
A |
G |
4: 46,718,797 (GRCm39) |
Y74H |
probably damaging |
Het |
| Gatd1 |
A |
C |
7: 140,990,981 (GRCm39) |
D55E |
probably benign |
Het |
| Gpr152 |
C |
A |
19: 4,193,223 (GRCm39) |
Q255K |
possibly damaging |
Het |
| Havcr1 |
A |
G |
11: 46,643,268 (GRCm39) |
T63A |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,118,865 (GRCm39) |
|
probably null |
Het |
| Ifit3b |
A |
T |
19: 34,590,030 (GRCm39) |
Q402L |
probably damaging |
Het |
| Ints3 |
A |
G |
3: 90,322,828 (GRCm39) |
L134S |
probably benign |
Het |
| Kcna10 |
A |
G |
3: 107,102,217 (GRCm39) |
T283A |
probably benign |
Het |
| Kmt2e |
A |
C |
5: 23,697,313 (GRCm39) |
R590S |
probably damaging |
Het |
| Lefty1 |
A |
T |
1: 180,765,277 (GRCm39) |
N282Y |
probably benign |
Het |
| Loxl4 |
T |
A |
19: 42,596,030 (GRCm39) |
Y141F |
probably benign |
Het |
| Lrrn2 |
T |
C |
1: 132,866,915 (GRCm39) |
V660A |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,824,935 (GRCm39) |
S1517P |
probably benign |
Het |
| Mcoln2 |
A |
G |
3: 145,881,468 (GRCm39) |
H208R |
probably benign |
Het |
| Mpp2 |
T |
A |
11: 101,955,259 (GRCm39) |
E122V |
possibly damaging |
Het |
| Mrgprb5 |
T |
C |
7: 47,818,526 (GRCm39) |
N70D |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,343,500 (GRCm39) |
E37D |
possibly damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,274,722 (GRCm39) |
|
probably null |
Het |
| Ncoa6 |
T |
C |
2: 155,233,081 (GRCm39) |
|
probably benign |
Het |
| Nfib |
C |
A |
4: 82,422,967 (GRCm39) |
|
probably null |
Het |
| Nostrin |
G |
T |
2: 68,975,156 (GRCm39) |
G24* |
probably null |
Het |
| Nudc |
A |
G |
4: 133,260,576 (GRCm39) |
Y293H |
probably damaging |
Het |
| Or51a42 |
T |
A |
7: 103,707,940 (GRCm39) |
N290Y |
probably damaging |
Het |
| Pcmtd1 |
T |
A |
1: 7,225,325 (GRCm39) |
Y41* |
probably null |
Het |
| Pigt |
T |
C |
2: 164,343,544 (GRCm39) |
L340P |
probably damaging |
Het |
| Pomgnt1 |
T |
C |
4: 116,012,972 (GRCm39) |
Y420H |
probably damaging |
Het |
| Pramel6 |
C |
T |
2: 87,341,096 (GRCm39) |
T476I |
probably benign |
Het |
| Ptprn2 |
T |
A |
12: 116,788,016 (GRCm39) |
H118Q |
possibly damaging |
Het |
| Rasl10a |
G |
A |
11: 5,008,517 (GRCm39) |
S71N |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,310,893 (GRCm39) |
I804V |
probably benign |
Het |
| Rps4l-ps |
T |
C |
7: 114,526,537 (GRCm39) |
|
noncoding transcript |
Het |
| Sash1 |
T |
A |
10: 8,605,477 (GRCm39) |
H971L |
probably benign |
Het |
| Secisbp2 |
T |
A |
13: 51,806,768 (GRCm39) |
F54L |
possibly damaging |
Het |
| Senp1 |
A |
T |
15: 97,954,731 (GRCm39) |
H484Q |
probably benign |
Het |
| Slc12a1 |
T |
C |
2: 124,995,913 (GRCm39) |
I22T |
possibly damaging |
Het |
| Slc25a36 |
A |
G |
9: 96,972,172 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
A |
7: 127,140,731 (GRCm39) |
S1443T |
probably benign |
Het |
| Sv2c |
T |
C |
13: 96,123,319 (GRCm39) |
T385A |
probably benign |
Het |
| Tas2r131 |
T |
A |
6: 132,933,936 (GRCm39) |
H291L |
probably damaging |
Het |
| Thbs3 |
A |
G |
3: 89,124,147 (GRCm39) |
D80G |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,908,394 (GRCm39) |
S1349L |
probably damaging |
Het |
| Toporsl |
A |
G |
4: 52,611,996 (GRCm39) |
R630G |
probably benign |
Het |
| Vmn1r43 |
C |
A |
6: 89,846,837 (GRCm39) |
M216I |
probably benign |
Het |
| Wdr17 |
T |
A |
8: 55,092,911 (GRCm39) |
E1068D |
probably benign |
Het |
| Wnt10a |
G |
A |
1: 74,842,762 (GRCm39) |
V413I |
probably damaging |
Het |
| Zfp141 |
T |
C |
7: 42,126,111 (GRCm39) |
|
probably null |
Het |
| Zfp169 |
T |
C |
13: 48,643,634 (GRCm39) |
I498V |
probably benign |
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 |
|
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'- AGCTTAGCCATGTGAGGGAG -3'
(R):5'- CAGCTTCATCTGGTTGAACTCTG -3'
Sequencing Primer
(F):5'- GAACTACAACAAACAGTAACAACAAC -3'
(R):5'- CATCTGGTTGAACTCTGGAAAAAG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation