Incidental Mutation 'IGL00971:4930596D02Rik'
ID28986
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930596D02Rik
Ensembl Gene ENSMUSG00000041068
Gene NameRIKEN cDNA 4930596D02 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.159) question?
Stock #IGL00971
Quality Score
Status
Chromosome14
Chromosomal Location35809488-35811978 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 35810213 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 135 (C135Y)
Ref Sequence ENSEMBL: ENSMUSP00000039186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043266]
Predicted Effect possibly damaging
Transcript: ENSMUST00000043266
AA Change: C135Y

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000039186
Gene: ENSMUSG00000041068
AA Change: C135Y

DomainStartEndE-ValueType
low complexity region 19 30 N/A INTRINSIC
RasGEFN 64 186 8.6e-14 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn T A 17: 13,852,313 probably benign Het
Akap10 A G 11: 61,904,796 V347A possibly damaging Het
Ankrd11 A G 8: 122,895,353 S587P probably damaging Het
Ces1g T C 8: 93,303,032 Y524C probably damaging Het
Cubn T C 2: 13,278,408 N3573S possibly damaging Het
Cyp1a1 G T 9: 57,700,707 C206F probably damaging Het
Fam166b A G 4: 43,428,377 L51P probably damaging Het
Fbxo30 T C 10: 11,290,298 Y255H probably benign Het
Ggnbp2 T C 11: 84,840,404 I295V possibly damaging Het
Gm8979 G A 7: 106,081,801 noncoding transcript Het
Gpatch8 A G 11: 102,479,917 Y932H unknown Het
Heatr6 C T 11: 83,759,309 P197L probably damaging Het
Helb T C 10: 120,094,263 D737G possibly damaging Het
Helz A T 11: 107,663,653 I1226F possibly damaging Het
Ipo11 A T 13: 106,856,769 I749N probably damaging Het
Ipo13 T C 4: 117,914,367 E2G possibly damaging Het
Jam3 A C 9: 27,101,892 D127E probably damaging Het
Kif16b G T 2: 142,711,744 Q1045K probably benign Het
Kin T C 2: 10,090,348 W121R possibly damaging Het
Man1b1 T G 2: 25,343,325 S237A possibly damaging Het
Mmel1 C T 4: 154,887,832 probably benign Het
Morn4 T C 19: 42,076,120 N143S possibly damaging Het
Nlrp4b A G 7: 10,714,955 T362A possibly damaging Het
Ntpcr C T 8: 125,747,762 T153M probably damaging Het
Olfr62 T A 4: 118,666,278 F254I probably damaging Het
Pdzd2 A G 15: 12,374,718 L1777P probably benign Het
Postn A G 3: 54,369,276 N192S possibly damaging Het
Prkar1a A T 11: 109,661,051 Y122F probably benign Het
Serpinb7 A G 1: 107,428,246 probably benign Het
Setd3 A T 12: 108,160,237 I121N probably damaging Het
Slamf7 T A 1: 171,639,242 I132L probably benign Het
Syt4 T C 18: 31,447,174 probably benign Het
Tesc G A 5: 118,056,439 probably null Het
Tsc1 C A 2: 28,670,940 S270* probably null Het
Wap C A 11: 6,636,808 C97F probably damaging Het
Zfp451 A G 1: 33,783,153 S155P probably benign Het
Zfp469 A G 8: 122,269,733 probably benign Het
Zfp51 C T 17: 21,463,582 T153M probably benign Het
Zfp579 A G 7: 4,993,391 I507T probably damaging Het
Other mutations in 4930596D02Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01622:4930596D02Rik APN 14 35810067 nonsense probably null
IGL01623:4930596D02Rik APN 14 35810067 nonsense probably null
IGL02049:4930596D02Rik APN 14 35811578 missense probably benign 0.19
IGL02275:4930596D02Rik APN 14 35811923 missense probably benign 0.44
IGL02668:4930596D02Rik APN 14 35810117 missense probably benign 0.02
IGL02684:4930596D02Rik APN 14 35810063 nonsense probably null
R0178:4930596D02Rik UTSW 14 35811478 missense probably benign 0.44
R0601:4930596D02Rik UTSW 14 35810189 missense probably damaging 1.00
R0609:4930596D02Rik UTSW 14 35811461 critical splice donor site probably null
R1664:4930596D02Rik UTSW 14 35811815 missense probably benign 0.01
R1899:4930596D02Rik UTSW 14 35810132 missense probably damaging 1.00
R5153:4930596D02Rik UTSW 14 35810255 missense probably benign 0.00
R6222:4930596D02Rik UTSW 14 35809966 makesense probably null
R6935:4930596D02Rik UTSW 14 35811907 missense probably benign
R7314:4930596D02Rik UTSW 14 35811649 missense probably benign
R8422:4930596D02Rik UTSW 14 35810052 missense probably benign 0.15
Posted On2013-04-17