Incidental Mutation 'IGL01930:1810011H11Rik'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1810011H11Rik
Ensembl Gene ENSMUSG00000041707
Gene NameRIKEN cDNA 1810011H11 gene
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL01930
Quality Score
Chromosomal Location32785963-32817984 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 32816857 bp
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

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
R7714:1810011H11Rik UTSW 14 32805172 missense possibly damaging 0.63
R8087:1810011H11Rik UTSW 14 32785969 unclassified probably benign
Posted On2014-05-07