Incidental Mutation 'IGL01107:1700001O22Rik'
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ID50530
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700001O22Rik
Ensembl Gene ENSMUSG00000044320
Gene NameRIKEN cDNA 1700001O22 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.023) question?
Stock #IGL01107
Quality Score
Status
Chromosome2
Chromosomal Location30794769-30803661 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 30797936 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 215 (F215Y)
Ref Sequence ENSEMBL: ENSMUSP00000058055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050003]
Predicted Effect probably damaging
Transcript: ENSMUST00000050003
AA Change: F215Y

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000058055
Gene: ENSMUSG00000044320
AA Change: F215Y

DomainStartEndE-ValueType
low complexity region 79 89 N/A INTRINSIC
low complexity region 130 144 N/A INTRINSIC
Pfam:DUF4685 164 245 2.7e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126898
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129484
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130396
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131315
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131937
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133380
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136883
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138959
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140168
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150205
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,194,468 probably null Het
Akip1 C T 7: 109,711,838 T195M probably damaging Het
Arhgef16 T C 4: 154,280,244 N631S probably benign Het
Brat1 C T 5: 140,717,177 S544L probably damaging Het
Cfap65 C T 1: 74,919,183 probably null Het
D17Wsu92e A T 17: 27,786,069 probably null Het
Defa22 T A 8: 21,163,037 probably null Het
Dnajc4 C T 19: 6,989,501 R153H probably benign Het
Dusp11 A G 6: 85,952,370 probably benign Het
E2f4 T A 8: 105,304,177 probably benign Het
Ece1 T A 4: 137,938,658 L271Q probably damaging Het
Fcgrt T C 7: 45,093,328 D343G probably damaging Het
Igsf10 T C 3: 59,331,524 E412G probably damaging Het
Il4ra G T 7: 125,575,914 L431F possibly damaging Het
Krt86 T A 15: 101,475,425 L200Q probably damaging Het
Lpcat1 T A 13: 73,494,828 F126I probably damaging Het
Prag1 A G 8: 36,099,931 T79A probably benign Het
Pramef12 A T 4: 144,393,094 I301N probably benign Het
Psg29 G T 7: 17,204,925 L41F probably benign Het
Rai14 C T 15: 10,599,711 probably benign Het
Reg3a A G 6: 78,383,245 D136G probably benign Het
Rif1 A G 2: 52,111,303 T1590A probably benign Het
Rorb A T 19: 18,957,328 L300* probably null Het
Sin3b T C 8: 72,731,105 C150R possibly damaging Het
Smarcc1 C A 9: 110,221,937 H942N probably damaging Het
Tas2r105 A G 6: 131,687,111 V118A probably benign Het
Tmem131 T C 1: 36,829,581 S388G probably damaging Het
Ttll9 C A 2: 153,002,889 probably benign Het
Ush1c A G 7: 46,209,901 L498P probably damaging Het
Vmn2r100 A G 17: 19,521,356 Y110C probably damaging Het
Zbtb11 T C 16: 56,006,007 Y800H probably damaging Het
Zdhhc20 T A 14: 57,865,589 E101V probably damaging Het
Other mutations in 1700001O22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02627:1700001O22Rik APN 2 30795765 missense probably damaging 1.00
R1236:1700001O22Rik UTSW 2 30795744 missense probably damaging 1.00
R1879:1700001O22Rik UTSW 2 30796476 missense possibly damaging 0.73
R1971:1700001O22Rik UTSW 2 30796554 missense probably benign 0.35
R2082:1700001O22Rik UTSW 2 30796379 intron probably null
R2107:1700001O22Rik UTSW 2 30795732 missense probably damaging 1.00
R5196:1700001O22Rik UTSW 2 30796438 missense possibly damaging 0.70
R5821:1700001O22Rik UTSW 2 30796446 missense possibly damaging 0.61
R6282:1700001O22Rik UTSW 2 30800769 missense possibly damaging 0.82
Posted On2013-06-21