Incidental Mutation 'IGL02627:1700001O22Rik'
ID301140
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? Non essential (E-score: 0.000) question?
Stock #IGL02627
Quality Score
Status
Chromosome2
Chromosomal Location30794769-30803661 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 30795765 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Methionine at position 353 (K353M)
Ref Sequence ENSEMBL: ENSMUSP00000058055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050003]
Predicted Effect probably damaging
Transcript: ENSMUST00000050003
AA Change: K353M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058055
Gene: ENSMUSG00000044320
AA Change: K353M

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610301B20Rik G A 4: 10,898,039 C207Y probably damaging Het
Arhgap32 T C 9: 32,246,006 Y100H probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Ckap5 A T 2: 91,576,021 N752I probably damaging Het
Dgkz T A 2: 91,938,710 probably benign Het
Egfr T A 11: 16,869,346 V292E probably damaging Het
Gnb3 T C 6: 124,834,715 T329A probably damaging Het
Igkv3-2 A T 6: 70,698,826 T40S probably damaging Het
Kcnq2 T C 2: 181,082,327 probably benign Het
Mbip T C 12: 56,335,805 Q292R probably benign Het
Mgat5b T C 11: 116,983,616 Y625H probably damaging Het
Ms4a4d A T 19: 11,548,623 E40D probably damaging Het
Naip1 T C 13: 100,425,648 E1003G possibly damaging Het
Ncf2 G A 1: 152,811,008 probably benign Het
Nfkbiz A G 16: 55,816,351 V529A probably damaging Het
Osr2 A G 15: 35,300,454 N52S possibly damaging Het
Prag1 A G 8: 36,139,439 D778G possibly damaging Het
Rsl1d1 G T 16: 11,194,551 A337E possibly damaging Het
Sall3 A T 18: 80,972,361 L784Q possibly damaging Het
Spen A G 4: 141,473,015 I2744T probably damaging Het
Tfip11 A C 5: 112,329,813 S145R possibly damaging Het
Tonsl T C 15: 76,634,095 D559G probably damaging Het
Trmt5 A T 12: 73,281,455 S325T probably damaging Het
Ubr1 A T 2: 120,940,991 V472D probably damaging Het
Vmn1r30 T A 6: 58,435,761 T29S probably benign Het
Vps29 T C 5: 122,362,845 S158P probably benign Het
Wdr82 T C 9: 106,176,687 V79A possibly damaging Het
Wfdc16 T A 2: 164,638,463 E37D possibly damaging Het
Other mutations in 1700001O22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01107:1700001O22Rik APN 2 30797936 missense probably damaging 0.97
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 splice site 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
R7192:1700001O22Rik UTSW 2 30796176 missense probably damaging 0.99
R7644:1700001O22Rik UTSW 2 30797954 missense possibly damaging 0.92
R8266:1700001O22Rik UTSW 2 30801242 missense possibly damaging 0.67
Posted On2015-04-16