Incidental Mutation 'IGL02638:A830010M20Rik'
ID301628
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol A830010M20Rik
Ensembl Gene ENSMUSG00000111375
Gene NameRIKEN cDNA A830010M20 gene
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02638
Quality Score
Status
Chromosome5
Chromosomal Location107437997-107511207 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 107508556 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 895 (V895A)
Ref Sequence ENSEMBL: ENSMUSP00000108290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060553] [ENSMUST00000100951] [ENSMUST00000112671] [ENSMUST00000152474] [ENSMUST00000160160] [ENSMUST00000211896]
Predicted Effect probably benign
Transcript: ENSMUST00000060553
Predicted Effect possibly damaging
Transcript: ENSMUST00000100951
AA Change: V895A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000098511
Gene: ENSMUSG00000111375
AA Change: V895A

DomainStartEndE-ValueType
low complexity region 340 353 N/A INTRINSIC
low complexity region 698 709 N/A INTRINSIC
low complexity region 946 957 N/A INTRINSIC
Pfam:DUF4596 1195 1239 2.6e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000112671
AA Change: V895A

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108290
Gene: ENSMUSG00000111375
AA Change: V895A

DomainStartEndE-ValueType
low complexity region 340 353 N/A INTRINSIC
low complexity region 698 709 N/A INTRINSIC
low complexity region 946 957 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133800
Predicted Effect unknown
Transcript: ENSMUST00000143074
AA Change: V312A
SMART Domains Protein: ENSMUSP00000122032
Gene: ENSMUSG00000106631
AA Change: V312A

DomainStartEndE-ValueType
low complexity region 116 127 N/A INTRINSIC
low complexity region 364 375 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152474
SMART Domains Protein: ENSMUSP00000114881
Gene: ENSMUSG00000111375

DomainStartEndE-ValueType
low complexity region 339 352 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160160
SMART Domains Protein: ENSMUSP00000124398
Gene: ENSMUSG00000106631

DomainStartEndE-ValueType
Pfam:DUF4580 10 140 1.5e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000211896
AA Change: V1407A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530077C05Rik A T 9: 22,430,479 K149* probably null Het
Alkbh3 T A 2: 94,008,113 T38S probably benign Het
BC055324 G A 1: 163,959,299 Q734* probably null Het
Cdkn2c A G 4: 109,665,012 probably benign Het
Clca4b A C 3: 144,926,178 C189G probably damaging Het
Clec4f T A 6: 83,652,700 N292I possibly damaging Het
Dkk3 A C 7: 112,149,027 S123R probably benign Het
Dock1 C T 7: 135,146,480 A1557V probably benign Het
E130308A19Rik C T 4: 59,719,676 Q403* probably null Het
F5 G A 1: 164,184,608 probably null Het
Fam98c T A 7: 29,152,762 D326V probably damaging Het
Frem2 A C 3: 53,551,346 V2034G possibly damaging Het
Galnt2 G A 8: 124,231,579 G18D probably damaging Het
Gm8394 T C 10: 85,313,834 noncoding transcript Het
Grhl3 T C 4: 135,556,865 E222G probably benign Het
Hif3a A C 7: 17,044,368 probably benign Het
Ibtk C T 9: 85,719,893 G755D probably damaging Het
Laptm4b A G 15: 34,277,484 N187S probably benign Het
Lrba A G 3: 86,325,073 T776A probably damaging Het
Mfhas1 T A 8: 35,590,950 W860R possibly damaging Het
Mon2 A C 10: 123,023,939 W811G probably damaging Het
Nupl2 A G 5: 24,175,507 T167A probably benign Het
Olfr1062 T C 2: 86,423,677 probably null Het
Olfr1128 T C 2: 87,544,749 Y265C probably damaging Het
Olfr1295 T C 2: 111,564,904 D180G probably damaging Het
Olfr30 C A 11: 58,455,047 A301S probably damaging Het
Olfr418 A G 1: 173,270,331 D52G probably benign Het
Pgap2 T C 7: 102,237,422 L217P probably damaging Het
Pik3c2b T G 1: 133,077,318 probably benign Het
Ppfia3 T A 7: 45,356,668 D149V probably damaging Het
Prkcb C T 7: 122,600,840 probably benign Het
Prl A G 13: 27,061,579 D97G probably benign Het
Rnf112 T C 11: 61,449,405 probably benign Het
Slc17a8 C A 10: 89,576,603 G323* probably null Het
Snx19 T C 9: 30,432,364 F607L possibly damaging Het
Suco A G 1: 161,827,687 S1079P probably damaging Het
Taf5 T C 19: 47,068,210 L149P probably benign Het
Taf6l T C 19: 8,775,266 M379V probably benign Het
Tcf25 T C 8: 123,399,292 F558L probably damaging Het
Tlcd1 T C 11: 78,179,618 V102A probably benign Het
Tmc5 G T 7: 118,627,233 A274S probably benign Het
Toporsl C T 4: 52,611,624 H506Y probably benign Het
Ubtd1 T C 19: 42,033,670 L127P possibly damaging Het
Usp24 A C 4: 106,438,770 probably benign Het
Usp24 C A 4: 106,438,772 probably benign Het
Usp43 T G 11: 67,855,755 D1042A probably benign Het
Whrn T C 4: 63,419,472 T48A possibly damaging Het
Wnt2b A G 3: 104,954,716 I102T probably benign Het
Zfp763 T C 17: 33,019,934 D79G probably benign Het
Zmat4 A G 8: 23,797,373 Y45C probably damaging Het
Other mutations in A830010M20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01911:A830010M20Rik APN 5 107508580 missense probably damaging 1.00
IGL03001:A830010M20Rik APN 5 107497842 missense probably damaging 1.00
IGL03007:A830010M20Rik APN 5 107503676 missense probably benign 0.37
IGL03008:A830010M20Rik APN 5 107491598 unclassified probably null
IGL03281:A830010M20Rik APN 5 107503876 missense probably benign 0.02
R0206:A830010M20Rik UTSW 5 107505040 missense probably benign 0.00
R0426:A830010M20Rik UTSW 5 107510373 missense probably damaging 1.00
R0765:A830010M20Rik UTSW 5 107506934 missense probably benign 0.14
R1747:A830010M20Rik UTSW 5 107451999 missense probably damaging 1.00
R2013:A830010M20Rik UTSW 5 107510789 missense probably damaging 0.99
R2338:A830010M20Rik UTSW 5 107510574 missense probably damaging 0.99
R3963:A830010M20Rik UTSW 5 107507356 missense probably damaging 0.99
R4460:A830010M20Rik UTSW 5 107503765 missense possibly damaging 0.74
R4776:A830010M20Rik UTSW 5 107510451 missense probably damaging 0.99
R4909:A830010M20Rik UTSW 5 107507310 nonsense probably null
R5105:A830010M20Rik UTSW 5 107510471 missense possibly damaging 0.70
R5155:A830010M20Rik UTSW 5 107490703 missense probably damaging 0.96
R6089:A830010M20Rik UTSW 5 107507029 missense probably damaging 0.99
R7282:A830010M20Rik UTSW 5 107507196 missense probably benign
R7282:A830010M20Rik UTSW 5 107510505 missense probably damaging 0.99
R7492:A830010M20Rik UTSW 5 107510507 missense probably benign 0.01
Posted On2015-04-16