Incidental Mutation 'R2293:Mdga2'
ID |
245083 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mdga2
|
Ensembl Gene |
ENSMUSG00000034912 |
Gene Name |
MAM domain containing glycosylphosphatidylinositol anchor 2 |
Synonyms |
Adp, 6720489L24Rik, Mamdc1, 9330209L04Rik, Mdga2 |
MMRRC Submission |
040292-MU
|
Accession Numbers |
|
Is this an essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2293 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
66466060-67222549 bp(-) (GRCm38) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 66568985 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 547
(L547*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152613
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037181]
[ENSMUST00000222167]
[ENSMUST00000223141]
|
AlphaFold |
P60755 |
Predicted Effect |
probably null
Transcript: ENSMUST00000037181
AA Change: L616*
|
SMART Domains |
Protein: ENSMUSP00000046761 Gene: ENSMUSG00000034912 AA Change: L616*
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 |
probably null
Transcript: ENSMUST00000178814
AA Change: L606*
|
SMART Domains |
Protein: ENSMUSP00000137608 Gene: ENSMUSG00000034912 AA Change: L606*
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
AA Change: L547*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000223141
AA Change: L547*
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223289
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano9 |
T |
C |
7: 141,102,515 |
N640S |
probably benign |
Het |
Aox4 |
T |
A |
1: 58,221,937 |
I143N |
probably damaging |
Het |
Arhgef11 |
C |
T |
3: 87,727,990 |
R869C |
probably damaging |
Het |
Bcl6 |
T |
C |
16: 23,977,609 |
N23D |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,560,534 |
F2939L |
possibly damaging |
Het |
Bsn |
C |
T |
9: 108,113,067 |
A1829T |
possibly damaging |
Het |
Cyp2j6 |
T |
A |
4: 96,529,433 |
T318S |
possibly damaging |
Het |
Dlg5 |
A |
C |
14: 24,158,112 |
S1009A |
probably benign |
Het |
Dlx6 |
A |
G |
6: 6,867,246 |
Y283C |
probably damaging |
Het |
Dnah10 |
T |
C |
5: 124,819,221 |
Y3550H |
probably damaging |
Het |
Dock7 |
T |
C |
4: 98,966,369 |
S1553G |
probably damaging |
Het |
Ice1 |
C |
A |
13: 70,614,957 |
D193Y |
probably damaging |
Het |
Mgat4a |
C |
A |
1: 37,452,592 |
R215L |
probably damaging |
Het |
Msantd2 |
A |
G |
9: 37,489,804 |
T69A |
probably damaging |
Het |
Muc5ac |
A |
G |
7: 141,807,199 |
T1416A |
probably damaging |
Het |
Nup214 |
T |
C |
2: 32,026,875 |
S1181P |
probably benign |
Het |
Pip5k1c |
A |
G |
10: 81,314,084 |
E42G |
possibly damaging |
Het |
Slc12a5 |
A |
G |
2: 164,992,330 |
E757G |
probably benign |
Het |
Slc16a14 |
A |
T |
1: 84,912,843 |
M247K |
probably benign |
Het |
Slc35b2 |
T |
A |
17: 45,567,141 |
V398E |
probably damaging |
Het |
Slc44a5 |
C |
A |
3: 154,240,297 |
L156I |
probably benign |
Het |
Trmt11 |
G |
C |
10: 30,547,748 |
P387R |
probably damaging |
Het |
|
Other mutations in Mdga2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01343:Mdga2
|
APN |
12 |
66723109 |
missense |
probably damaging |
0.97 |
IGL01632:Mdga2
|
APN |
12 |
66629898 |
splice site |
probably benign |
|
IGL01843:Mdga2
|
APN |
12 |
66723131 |
critical splice acceptor site |
probably null |
|
IGL02230:Mdga2
|
APN |
12 |
66655423 |
nonsense |
probably null |
|
IGL02348:Mdga2
|
APN |
12 |
66550575 |
missense |
probably damaging |
1.00 |
IGL02473:Mdga2
|
APN |
12 |
66550611 |
missense |
possibly damaging |
0.73 |
IGL02795:Mdga2
|
APN |
12 |
66689432 |
missense |
probably benign |
0.00 |
IGL02901:Mdga2
|
APN |
12 |
66797809 |
splice site |
probably benign |
|
IGL03373:Mdga2
|
APN |
12 |
66716722 |
missense |
probably damaging |
0.99 |
PIT4362001:Mdga2
|
UTSW |
12 |
66797768 |
missense |
possibly damaging |
0.83 |
PIT4377001:Mdga2
|
UTSW |
12 |
66716695 |
missense |
probably damaging |
0.99 |
R0106:Mdga2
|
UTSW |
12 |
66716706 |
missense |
probably damaging |
1.00 |
R0106:Mdga2
|
UTSW |
12 |
66716706 |
missense |
probably damaging |
1.00 |
R0110:Mdga2
|
UTSW |
12 |
66470926 |
missense |
possibly damaging |
0.66 |
R0218:Mdga2
|
UTSW |
12 |
66655120 |
missense |
probably damaging |
1.00 |
R0450:Mdga2
|
UTSW |
12 |
66470926 |
missense |
possibly damaging |
0.66 |
R0801:Mdga2
|
UTSW |
12 |
66486733 |
missense |
probably damaging |
1.00 |
R0847:Mdga2
|
UTSW |
12 |
66723080 |
missense |
probably damaging |
1.00 |
R1056:Mdga2
|
UTSW |
12 |
66723120 |
missense |
probably damaging |
0.97 |
R1086:Mdga2
|
UTSW |
12 |
66506102 |
splice site |
probably benign |
|
R1335:Mdga2
|
UTSW |
12 |
66716742 |
splice site |
probably null |
|
R1382:Mdga2
|
UTSW |
12 |
66470916 |
missense |
possibly damaging |
0.68 |
R1490:Mdga2
|
UTSW |
12 |
66797756 |
missense |
probably benign |
0.01 |
R1521:Mdga2
|
UTSW |
12 |
66568926 |
missense |
probably benign |
0.00 |
R1556:Mdga2
|
UTSW |
12 |
66550593 |
missense |
possibly damaging |
0.92 |
R1676:Mdga2
|
UTSW |
12 |
66568772 |
missense |
probably damaging |
1.00 |
R1676:Mdga2
|
UTSW |
12 |
66568773 |
nonsense |
probably null |
|
R1698:Mdga2
|
UTSW |
12 |
66689335 |
missense |
probably damaging |
0.97 |
R1954:Mdga2
|
UTSW |
12 |
66486708 |
splice site |
probably benign |
|
R2069:Mdga2
|
UTSW |
12 |
66568917 |
nonsense |
probably null |
|
R2077:Mdga2
|
UTSW |
12 |
66655362 |
missense |
probably damaging |
1.00 |
R2118:Mdga2
|
UTSW |
12 |
66868752 |
missense |
probably damaging |
1.00 |
R2146:Mdga2
|
UTSW |
12 |
66868741 |
missense |
probably damaging |
1.00 |
R2158:Mdga2
|
UTSW |
12 |
66689381 |
missense |
possibly damaging |
0.64 |
R2189:Mdga2
|
UTSW |
12 |
66473196 |
splice site |
probably null |
|
R2886:Mdga2
|
UTSW |
12 |
66506270 |
splice site |
probably benign |
|
R2960:Mdga2
|
UTSW |
12 |
66629978 |
nonsense |
probably null |
|
R3937:Mdga2
|
UTSW |
12 |
67221206 |
unclassified |
probably benign |
|
R4437:Mdga2
|
UTSW |
12 |
66473198 |
splice site |
probably null |
|
R4514:Mdga2
|
UTSW |
12 |
66716722 |
missense |
probably damaging |
0.99 |
R4693:Mdga2
|
UTSW |
12 |
66797633 |
missense |
possibly damaging |
0.81 |
R4719:Mdga2
|
UTSW |
12 |
66471001 |
unclassified |
probably benign |
|
R4744:Mdga2
|
UTSW |
12 |
66797727 |
missense |
probably benign |
0.01 |
R4756:Mdga2
|
UTSW |
12 |
66797653 |
missense |
probably damaging |
1.00 |
R4781:Mdga2
|
UTSW |
12 |
66797622 |
splice site |
probably null |
|
R5022:Mdga2
|
UTSW |
12 |
66470760 |
missense |
possibly damaging |
0.83 |
R5108:Mdga2
|
UTSW |
12 |
66486741 |
missense |
probably benign |
0.43 |
R5479:Mdga2
|
UTSW |
12 |
66655176 |
missense |
probably damaging |
1.00 |
R5710:Mdga2
|
UTSW |
12 |
66506782 |
missense |
probably damaging |
1.00 |
R5816:Mdga2
|
UTSW |
12 |
66655182 |
missense |
probably damaging |
1.00 |
R5822:Mdga2
|
UTSW |
12 |
66655335 |
missense |
probably damaging |
1.00 |
R5996:Mdga2
|
UTSW |
12 |
66797763 |
missense |
probably benign |
0.00 |
R6038:Mdga2
|
UTSW |
12 |
66630053 |
missense |
probably damaging |
1.00 |
R6038:Mdga2
|
UTSW |
12 |
66630053 |
missense |
probably damaging |
1.00 |
R6297:Mdga2
|
UTSW |
12 |
66506253 |
missense |
probably damaging |
1.00 |
R6484:Mdga2
|
UTSW |
12 |
66630069 |
missense |
possibly damaging |
0.90 |
R6830:Mdga2
|
UTSW |
12 |
66723001 |
missense |
probably damaging |
1.00 |
R6912:Mdga2
|
UTSW |
12 |
66506115 |
missense |
probably benign |
0.01 |
R6971:Mdga2
|
UTSW |
12 |
66550561 |
missense |
probably damaging |
1.00 |
R7053:Mdga2
|
UTSW |
12 |
66689384 |
missense |
probably benign |
0.41 |
R7069:Mdga2
|
UTSW |
12 |
66486752 |
missense |
probably benign |
0.31 |
R7381:Mdga2
|
UTSW |
12 |
66568896 |
missense |
probably benign |
0.44 |
R7474:Mdga2
|
UTSW |
12 |
66486761 |
nonsense |
probably null |
|
R7559:Mdga2
|
UTSW |
12 |
66473229 |
missense |
probably damaging |
1.00 |
R7581:Mdga2
|
UTSW |
12 |
66506255 |
missense |
probably damaging |
0.99 |
R7596:Mdga2
|
UTSW |
12 |
66506123 |
missense |
probably damaging |
0.99 |
R7745:Mdga2
|
UTSW |
12 |
66689350 |
missense |
probably damaging |
0.99 |
R7745:Mdga2
|
UTSW |
12 |
66689351 |
missense |
possibly damaging |
0.63 |
R7852:Mdga2
|
UTSW |
12 |
66470950 |
missense |
possibly damaging |
0.66 |
R8144:Mdga2
|
UTSW |
12 |
66655263 |
missense |
probably damaging |
1.00 |
R8319:Mdga2
|
UTSW |
12 |
67221029 |
missense |
unknown |
|
R8715:Mdga2
|
UTSW |
12 |
66868752 |
missense |
probably damaging |
1.00 |
R8977:Mdga2
|
UTSW |
12 |
66797635 |
missense |
possibly damaging |
0.88 |
R9138:Mdga2
|
UTSW |
12 |
66568889 |
missense |
possibly damaging |
0.89 |
R9177:Mdga2
|
UTSW |
12 |
66470707 |
missense |
possibly damaging |
0.66 |
R9223:Mdga2
|
UTSW |
12 |
66568860 |
missense |
possibly damaging |
0.81 |
R9248:Mdga2
|
UTSW |
12 |
66689452 |
missense |
possibly damaging |
0.87 |
R9264:Mdga2
|
UTSW |
12 |
66513283 |
missense |
probably damaging |
1.00 |
R9381:Mdga2
|
UTSW |
12 |
66550530 |
missense |
possibly damaging |
0.64 |
R9456:Mdga2
|
UTSW |
12 |
66568758 |
missense |
probably benign |
0.44 |
R9633:Mdga2
|
UTSW |
12 |
66689432 |
missense |
probably benign |
0.00 |
Z1176:Mdga2
|
UTSW |
12 |
66689443 |
missense |
probably damaging |
1.00 |
Z1186:Mdga2
|
UTSW |
12 |
66568953 |
missense |
possibly damaging |
0.90 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAGCTGCATCTCCCTGCTC -3'
(R):5'- GGCTCAGTTTAAATATACTCTCCACC -3'
Sequencing Primer
(F):5'- GATGCTGCAGTTATAAACTCCATAG -3'
(R):5'- TTAAAAATACGCCCTCTGCTGG -3'
|
Posted On |
2014-10-30 |