Incidental Mutation 'R4514:Mdga2'
ID |
332814 |
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 |
041588-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4514 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
66512834-67269323 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 66763496 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 200
(I200T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152613
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037181]
[ENSMUST00000222167]
[ENSMUST00000223141]
|
AlphaFold |
P60755 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037181
AA Change: I269T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000046761 Gene: ENSMUSG00000034912 AA Change: I269T
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 |
unknown
Transcript: ENSMUST00000178814
AA Change: I259T
|
SMART Domains |
Protein: ENSMUSP00000137608 Gene: ENSMUSG00000034912 AA Change: I259T
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: I200T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223141
AA Change: I200T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.1%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
T |
G |
8: 25,308,152 (GRCm39) |
T51P |
probably damaging |
Het |
Akr1c20 |
A |
C |
13: 4,557,843 (GRCm39) |
V201G |
probably damaging |
Het |
Alg9 |
C |
T |
9: 50,716,654 (GRCm39) |
T409M |
possibly damaging |
Het |
Arpp21 |
T |
A |
9: 112,006,745 (GRCm39) |
T155S |
probably damaging |
Het |
Atm |
T |
A |
9: 53,404,339 (GRCm39) |
Q1334L |
probably damaging |
Het |
Bptf |
G |
A |
11: 106,968,518 (GRCm39) |
T1055M |
probably damaging |
Het |
Cd3g |
C |
A |
9: 44,884,882 (GRCm39) |
A121S |
possibly damaging |
Het |
Cenpn |
A |
G |
8: 117,660,135 (GRCm39) |
Y68C |
probably damaging |
Het |
Clock |
A |
G |
5: 76,378,046 (GRCm39) |
I618T |
probably benign |
Het |
Cp |
A |
G |
3: 20,042,177 (GRCm39) |
M982V |
probably damaging |
Het |
Csf3r |
T |
A |
4: 125,933,653 (GRCm39) |
S611T |
possibly damaging |
Het |
Csn3 |
A |
G |
5: 88,077,997 (GRCm39) |
T168A |
unknown |
Het |
Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
D630003M21Rik |
T |
C |
2: 158,046,722 (GRCm39) |
T752A |
probably benign |
Het |
Defb34 |
A |
T |
8: 19,176,522 (GRCm39) |
D71V |
probably damaging |
Het |
Dync1h1 |
T |
A |
12: 110,623,573 (GRCm39) |
D3615E |
possibly damaging |
Het |
Etl4 |
A |
T |
2: 20,666,709 (GRCm39) |
T167S |
probably damaging |
Het |
F5 |
T |
A |
1: 163,979,566 (GRCm39) |
|
probably benign |
Het |
Got1l1 |
C |
T |
8: 27,688,513 (GRCm39) |
M279I |
probably benign |
Het |
Grm7 |
A |
G |
6: 111,335,265 (GRCm39) |
T559A |
possibly damaging |
Het |
Ifit1 |
A |
T |
19: 34,625,913 (GRCm39) |
R350* |
probably null |
Het |
Ighv2-5 |
T |
C |
12: 113,649,216 (GRCm39) |
N79S |
possibly damaging |
Het |
Igkv17-127 |
A |
G |
6: 67,838,498 (GRCm39) |
I70V |
possibly damaging |
Het |
Itga8 |
T |
C |
2: 12,187,547 (GRCm39) |
S711G |
probably benign |
Het |
Kndc1 |
A |
G |
7: 139,490,202 (GRCm39) |
T235A |
probably benign |
Het |
Lct |
T |
C |
1: 128,228,251 (GRCm39) |
I1081V |
probably benign |
Het |
Lrrc8b |
G |
T |
5: 105,627,819 (GRCm39) |
C55F |
probably damaging |
Het |
Lrwd1 |
T |
C |
5: 136,160,402 (GRCm39) |
T311A |
probably benign |
Het |
Mapk14 |
T |
C |
17: 28,943,798 (GRCm39) |
F129S |
probably damaging |
Het |
Mocos |
T |
A |
18: 24,816,269 (GRCm39) |
S615R |
probably damaging |
Het |
Myh4 |
T |
C |
11: 67,146,395 (GRCm39) |
V1456A |
probably benign |
Het |
Myh9 |
T |
C |
15: 77,648,200 (GRCm39) |
I1759V |
probably benign |
Het |
Nat8f5 |
G |
A |
6: 85,794,405 (GRCm39) |
T185I |
possibly damaging |
Het |
Nav3 |
T |
C |
10: 109,529,943 (GRCm39) |
I2133V |
possibly damaging |
Het |
Ncam2 |
T |
A |
16: 81,309,884 (GRCm39) |
M458K |
probably benign |
Het |
Nphp1 |
T |
C |
2: 127,590,007 (GRCm39) |
S532G |
probably benign |
Het |
Oplah |
A |
G |
15: 76,182,155 (GRCm39) |
L1035P |
probably damaging |
Het |
Or4p22 |
T |
C |
2: 88,317,709 (GRCm39) |
V211A |
probably benign |
Het |
Or52h2 |
C |
T |
7: 103,838,598 (GRCm39) |
R272H |
probably benign |
Het |
Pask |
T |
A |
1: 93,249,855 (GRCm39) |
Q515L |
probably benign |
Het |
Poglut1 |
A |
T |
16: 38,369,778 (GRCm39) |
F35I |
probably benign |
Het |
Ppp1ca |
T |
G |
19: 4,245,054 (GRCm39) |
I319S |
probably benign |
Het |
Psg25 |
T |
A |
7: 18,263,533 (GRCm39) |
R97* |
probably null |
Het |
Sars2 |
T |
C |
7: 28,441,709 (GRCm39) |
|
probably null |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Slc16a7 |
T |
G |
10: 125,069,308 (GRCm39) |
|
probably null |
Het |
Slc7a8 |
C |
G |
14: 54,973,247 (GRCm39) |
G240A |
possibly damaging |
Het |
St6gal2 |
A |
T |
17: 55,790,018 (GRCm39) |
N351Y |
probably benign |
Het |
Susd5 |
T |
C |
9: 113,924,992 (GRCm39) |
F292L |
probably benign |
Het |
Tmco5 |
T |
A |
2: 116,710,795 (GRCm39) |
D38E |
probably damaging |
Het |
Tubgcp2 |
G |
A |
7: 139,575,984 (GRCm39) |
P893L |
possibly damaging |
Het |
Uncx |
A |
G |
5: 139,532,522 (GRCm39) |
I196V |
possibly damaging |
Het |
Zeb1 |
G |
A |
18: 5,759,007 (GRCm39) |
C138Y |
probably damaging |
Het |
Zfp609 |
A |
G |
9: 65,610,977 (GRCm39) |
I662T |
possibly damaging |
Het |
Zfp985 |
G |
A |
4: 147,668,020 (GRCm39) |
C296Y |
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 |
|
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'- TAGCTATCAACTGGCCTATAAGAAG -3'
(R):5'- CCCCTAGGAAGCAAGTTTGC -3'
Sequencing Primer
(F):5'- AACGACACCATCTTGTCT -3'
(R):5'- AGTTTTTACCTCTAAGCATATTCCAG -3'
|
Posted On |
2015-08-18 |