Incidental Mutation 'IGL01930:1810011H11Rik'
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ID180410
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1810011H11Rik
Ensembl Gene ENSMUSG00000041707
Gene NameRIKEN cDNA 1810011H11 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.036) question?
Stock #IGL01930
Quality Score
Status
Chromosome14
Chromosomal Location32785963-32817984 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 32816857 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 92 (E92K)
Ref Sequence ENSEMBL: ENSMUSP00000153805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039191] [ENSMUST00000227060] [ENSMUST00000227871]
Predicted Effect probably benign
Transcript: ENSMUST00000039191
AA Change: E92K

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000132997
Gene: ENSMUSG00000041707
AA Change: E92K

DomainStartEndE-ValueType
Pfam:DUF4514 16 75 3.6e-40 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000227060
AA Change: E48K
Predicted Effect probably benign
Transcript: ENSMUST00000227871
AA Change: E92K

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect silent
Transcript: ENSMUST00000228481
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228955
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433N12Rik C T 9: 3,134,875 noncoding transcript Het
Acsf3 A G 8: 122,780,346 Y126C probably benign Het
Akr1c20 T A 13: 4,507,648 probably benign Het
Cdan1 T C 2: 120,726,582 probably benign Het
Cdc42bpg C T 19: 6,311,368 A308V probably damaging Het
Dek T C 13: 47,088,135 I318V probably benign Het
Dvl1 A G 4: 155,856,188 M422V possibly damaging Het
Erbin G A 13: 103,841,172 L626F probably damaging Het
Fa2h A T 8: 111,349,304 V229E possibly damaging Het
Gfpt1 T A 6: 87,059,415 H193Q possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gpr162 A G 6: 124,861,612 L25P possibly damaging Het
Hsd3b5 T C 3: 98,622,159 T52A probably benign Het
Megf8 T A 7: 25,334,861 V668D probably damaging Het
Olfr418 T C 1: 173,270,610 V145A probably benign Het
Prkdc A G 16: 15,698,887 T1042A probably damaging Het
Rasgrf2 A G 13: 91,982,738 S735P probably damaging Het
Serpina3n T A 12: 104,408,972 L101H probably damaging Het
Sipa1l2 T C 8: 125,419,239 D1674G probably damaging Het
Sval3 A G 6: 41,972,521 N98D probably benign Het
Tbc1d16 G A 11: 119,156,075 R449C possibly damaging Het
Tm7sf3 A C 6: 146,610,933 I321S possibly damaging Het
Trappc13 A G 13: 104,148,078 probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdr60 A G 12: 116,225,963 probably null Het
Wdr76 A G 2: 121,510,822 D116G possibly damaging Het
Zscan18 T C 7: 12,775,348 probably benign Het
Other mutations in 1810011H11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03225:1810011H11Rik APN 14 32805176 missense probably damaging 0.97
R0060:1810011H11Rik UTSW 14 32806769 intron probably benign
R0255:1810011H11Rik UTSW 14 32808363 missense possibly damaging 0.91
R1520:1810011H11Rik UTSW 14 32805126 intron probably benign
R4641:1810011H11Rik UTSW 14 32806882 missense probably damaging 0.99
R5218:1810011H11Rik UTSW 14 32816836 splice site probably null
R6111:1810011H11Rik UTSW 14 32806798 missense possibly damaging 0.93
R6793:1810011H11Rik UTSW 14 32806821 missense probably benign
Posted On2014-05-07