Incidental Mutation 'IGL00309:Cyp2c70'
ID277504
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2c70
Ensembl Gene ENSMUSG00000060613
Gene Namecytochrome P450, family 2, subfamily c, polypeptide 70
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.093) question?
Stock #IGL00309
Quality Score
Status
Chromosome19
Chromosomal Location40153353-40187333 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 40156826 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 395 (N395K)
Ref Sequence ENSEMBL: ENSMUSP00000060584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051846]
Predicted Effect probably benign
Transcript: ENSMUST00000051846
AA Change: N395K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000060584
Gene: ENSMUSG00000060613
AA Change: N395K

DomainStartEndE-ValueType
Pfam:p450 30 486 2.1e-158 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T C 4: 62,532,666 probably benign Het
Abca9 T A 11: 110,160,516 D118V probably benign Het
Adgrb2 T A 4: 130,018,805 I1241N probably damaging Het
Arsb A G 13: 93,790,100 D126G probably benign Het
BB014433 G T 8: 15,042,510 N114K probably benign Het
Ccne2 T A 4: 11,199,322 V241E probably benign Het
Ccnjl A T 11: 43,583,196 K199N probably benign Het
Cyp2c55 A G 19: 39,011,746 T130A probably benign Het
Dst T C 1: 34,160,652 V67A probably damaging Het
Dysf G A 6: 84,108,099 R806H probably damaging Het
Extl3 G A 14: 65,076,989 P248L probably benign Het
Fcgbp A G 7: 28,085,130 D205G probably damaging Het
Gga1 G T 15: 78,883,355 V98L possibly damaging Het
Gpr6 C T 10: 41,070,816 A257T probably damaging Het
Mex3c C T 18: 73,589,889 T351M probably damaging Het
Olfr1019 A T 2: 85,841,362 V143D probably benign Het
Olfr1513 A G 14: 52,349,710 V112A probably benign Het
Olfr154 A T 2: 85,664,356 V26D probably benign Het
Olfr961 T A 9: 39,647,340 S205T probably benign Het
Prex1 A G 2: 166,609,823 Y412H probably damaging Het
Slc25a25 A T 2: 32,419,160 V75E probably benign Het
Sv2c A G 13: 96,048,429 C247R probably damaging Het
Trpm5 A T 7: 143,082,991 V403E probably benign Het
Wdr17 A G 8: 54,687,711 V202A probably damaging Het
Zscan25 A G 5: 145,283,749 E118G probably damaging Het
Other mutations in Cyp2c70
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Cyp2c70 APN 19 40167576 missense probably damaging 1.00
IGL01966:Cyp2c70 APN 19 40153572 utr 3 prime probably benign
PIT4468001:Cyp2c70 UTSW 19 40165362 missense probably damaging 1.00
R0012:Cyp2c70 UTSW 19 40187243 missense probably null 1.00
R0044:Cyp2c70 UTSW 19 40165371 missense possibly damaging 0.85
R0309:Cyp2c70 UTSW 19 40160671 missense possibly damaging 0.94
R1572:Cyp2c70 UTSW 19 40183982 missense probably benign 0.21
R1650:Cyp2c70 UTSW 19 40165477 missense probably benign 0.00
R1671:Cyp2c70 UTSW 19 40153637 missense probably damaging 1.00
R2016:Cyp2c70 UTSW 19 40164412 missense possibly damaging 0.94
R2163:Cyp2c70 UTSW 19 40160719 missense possibly damaging 0.64
R3425:Cyp2c70 UTSW 19 40184024 missense probably damaging 1.00
R4299:Cyp2c70 UTSW 19 40183928 missense probably benign 0.00
R5037:Cyp2c70 UTSW 19 40183997 missense possibly damaging 0.72
R5103:Cyp2c70 UTSW 19 40160632 missense probably damaging 0.96
R6060:Cyp2c70 UTSW 19 40165413 nonsense probably null
R6440:Cyp2c70 UTSW 19 40156806 missense possibly damaging 0.64
R6853:Cyp2c70 UTSW 19 40183920 missense possibly damaging 0.72
R6936:Cyp2c70 UTSW 19 40167563 missense probably damaging 0.97
R7098:Cyp2c70 UTSW 19 40180487 missense probably benign 0.02
Posted On2015-04-16