Incidental Mutation 'IGL02127:Cyp2c69'
ID 280894
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2c69
Ensembl Gene ENSMUSG00000092008
Gene Name cytochrome P450, family 2, subfamily c, polypeptide 69
Synonyms AI098658
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # IGL02127
Quality Score
Status
Chromosome 19
Chromosomal Location 39831258-39875243 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 39839501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 374 (T374N)
Ref Sequence ENSEMBL: ENSMUSP00000132832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168838]
AlphaFold E9PXC3
Predicted Effect probably damaging
Transcript: ENSMUST00000168838
AA Change: T374N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132832
Gene: ENSMUSG00000092008
AA Change: T374N

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:p450 30 487 7e-152 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,597,305 (GRCm39) M661K probably benign Het
Arpin G A 7: 79,577,941 (GRCm39) R163W probably benign Het
Atm C A 9: 53,399,283 (GRCm39) D1573Y probably damaging Het
Avil A G 10: 126,847,695 (GRCm39) N540S probably benign Het
Btnl6 T C 17: 34,733,017 (GRCm39) Q282R probably benign Het
Cacna2d3 T C 14: 28,785,832 (GRCm39) probably benign Het
Cd300ld4 T C 11: 114,913,545 (GRCm39) N170S probably benign Het
Cgnl1 T A 9: 71,633,135 (GRCm39) N72I probably damaging Het
Cntnap3 T C 13: 64,946,878 (GRCm39) probably benign Het
Col27a1 A T 4: 63,143,379 (GRCm39) T356S possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp2d26 T C 15: 82,675,307 (GRCm39) E349G probably benign Het
Dnah1 T C 14: 31,026,885 (GRCm39) E713G probably benign Het
Dnah7b A T 1: 46,179,035 (GRCm39) T903S probably benign Het
Enthd1 T C 15: 80,336,943 (GRCm39) D497G probably damaging Het
Grk4 C T 5: 34,867,530 (GRCm39) T165I probably benign Het
Hmcn1 G A 1: 150,598,358 (GRCm39) S1648L probably benign Het
Ints11 A G 4: 155,971,320 (GRCm39) Y278C probably damaging Het
Kcnu1 T C 8: 26,382,090 (GRCm39) L480P probably damaging Het
Kif5c G A 2: 49,591,122 (GRCm39) probably null Het
Kifbp C T 10: 62,414,128 (GRCm39) R10H probably benign Het
Klhl35 T C 7: 99,120,888 (GRCm39) probably benign Het
Lemd3 A T 10: 120,761,933 (GRCm39) D807E possibly damaging Het
Lrrc37a G A 11: 103,395,365 (GRCm39) T20I probably benign Het
Mab21l1 C T 3: 55,691,016 (GRCm39) A201V probably benign Het
Mab21l2 T C 3: 86,454,124 (GRCm39) D292G possibly damaging Het
Map3k21 T C 8: 126,668,886 (GRCm39) L824P probably benign Het
Myo5a T C 9: 75,120,263 (GRCm39) V1687A probably benign Het
Myo5c G T 9: 75,208,184 (GRCm39) W1639C probably damaging Het
Nfya G T 17: 48,700,283 (GRCm39) probably benign Het
Or4a76 A G 2: 89,461,098 (GRCm39) I48T probably damaging Het
Papolg A G 11: 23,820,870 (GRCm39) probably benign Het
Pcdh8 G A 14: 80,006,686 (GRCm39) R626C probably damaging Het
Pclo T C 5: 14,815,159 (GRCm39) probably benign Het
Pogz T C 3: 94,782,014 (GRCm39) probably benign Het
Polg G A 7: 79,107,915 (GRCm39) probably benign Het
Scn9a A G 2: 66,377,479 (GRCm39) V401A probably damaging Het
Scn9a A T 2: 66,325,170 (GRCm39) I1317K probably damaging Het
St7 T A 6: 17,844,968 (GRCm39) probably benign Het
Tdo2 C T 3: 81,866,232 (GRCm39) V344M probably damaging Het
Trmt1 T C 8: 85,424,100 (GRCm39) V400A probably damaging Het
Trrap A G 5: 144,753,243 (GRCm39) N1856S probably benign Het
Ube3a G A 7: 58,925,789 (GRCm39) G210D probably benign Het
Ubqln5 A G 7: 103,778,689 (GRCm39) V45A probably damaging Het
Wdpcp T A 11: 21,661,958 (GRCm39) M410K possibly damaging Het
Xpa G A 4: 46,185,606 (GRCm39) T124M probably damaging Het
Zpbp2 A G 11: 98,446,367 (GRCm39) E172G probably damaging Het
Other mutations in Cyp2c69
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01873:Cyp2c69 APN 19 39,869,693 (GRCm39) splice site probably benign
IGL02945:Cyp2c69 APN 19 39,875,091 (GRCm39) missense possibly damaging 0.81
IGL03067:Cyp2c69 APN 19 39,869,537 (GRCm39) missense probably benign 0.29
IGL03069:Cyp2c69 APN 19 39,869,537 (GRCm39) missense probably benign 0.29
BB007:Cyp2c69 UTSW 19 39,831,434 (GRCm39) missense possibly damaging 0.47
BB017:Cyp2c69 UTSW 19 39,831,434 (GRCm39) missense possibly damaging 0.47
R0545:Cyp2c69 UTSW 19 39,875,105 (GRCm39) missense probably damaging 1.00
R1276:Cyp2c69 UTSW 19 39,864,668 (GRCm39) missense possibly damaging 0.47
R1468:Cyp2c69 UTSW 19 39,837,839 (GRCm39) missense probably damaging 1.00
R1468:Cyp2c69 UTSW 19 39,837,839 (GRCm39) missense probably damaging 1.00
R1534:Cyp2c69 UTSW 19 39,839,593 (GRCm39) missense probably benign
R1549:Cyp2c69 UTSW 19 39,831,430 (GRCm39) missense probably benign 0.11
R1703:Cyp2c69 UTSW 19 39,864,810 (GRCm39) missense probably benign 0.10
R1752:Cyp2c69 UTSW 19 39,869,597 (GRCm39) missense probably damaging 1.00
R1769:Cyp2c69 UTSW 19 39,864,815 (GRCm39) missense probably benign 0.00
R1843:Cyp2c69 UTSW 19 39,865,972 (GRCm39) missense probably benign 0.27
R1938:Cyp2c69 UTSW 19 39,837,810 (GRCm39) missense probably damaging 0.97
R2100:Cyp2c69 UTSW 19 39,875,130 (GRCm39) missense probably benign 0.11
R2366:Cyp2c69 UTSW 19 39,866,038 (GRCm39) missense probably benign 0.12
R2367:Cyp2c69 UTSW 19 39,866,038 (GRCm39) missense probably benign 0.12
R2440:Cyp2c69 UTSW 19 39,864,738 (GRCm39) missense probably benign 0.17
R2931:Cyp2c69 UTSW 19 39,837,927 (GRCm39) missense probably damaging 1.00
R3709:Cyp2c69 UTSW 19 39,839,667 (GRCm39) splice site probably benign
R3793:Cyp2c69 UTSW 19 39,869,600 (GRCm39) missense probably benign 0.44
R3898:Cyp2c69 UTSW 19 39,864,834 (GRCm39) missense probably benign 0.00
R4579:Cyp2c69 UTSW 19 39,869,630 (GRCm39) missense possibly damaging 0.89
R4707:Cyp2c69 UTSW 19 39,837,852 (GRCm39) missense probably benign 0.39
R4778:Cyp2c69 UTSW 19 39,866,038 (GRCm39) missense probably benign 0.12
R4779:Cyp2c69 UTSW 19 39,866,038 (GRCm39) missense probably benign 0.12
R4780:Cyp2c69 UTSW 19 39,866,038 (GRCm39) missense probably benign 0.12
R4838:Cyp2c69 UTSW 19 39,866,038 (GRCm39) missense probably benign 0.12
R4877:Cyp2c69 UTSW 19 39,866,056 (GRCm39) missense probably damaging 1.00
R5488:Cyp2c69 UTSW 19 39,839,603 (GRCm39) missense probably null 0.94
R5489:Cyp2c69 UTSW 19 39,839,603 (GRCm39) missense probably null 0.94
R6083:Cyp2c69 UTSW 19 39,837,900 (GRCm39) missense probably damaging 1.00
R6278:Cyp2c69 UTSW 19 39,831,507 (GRCm39) nonsense probably null
R6415:Cyp2c69 UTSW 19 39,831,365 (GRCm39) missense probably benign 0.44
R6732:Cyp2c69 UTSW 19 39,869,943 (GRCm39) missense probably benign
R6858:Cyp2c69 UTSW 19 39,866,009 (GRCm39) missense probably benign 0.19
R7023:Cyp2c69 UTSW 19 39,865,986 (GRCm39) missense probably benign 0.43
R7227:Cyp2c69 UTSW 19 39,869,610 (GRCm39) missense possibly damaging 0.77
R7228:Cyp2c69 UTSW 19 39,869,610 (GRCm39) missense possibly damaging 0.77
R7260:Cyp2c69 UTSW 19 39,831,344 (GRCm39) missense probably benign 0.00
R7262:Cyp2c69 UTSW 19 39,875,176 (GRCm39) start gained probably benign
R7479:Cyp2c69 UTSW 19 39,870,001 (GRCm39) missense probably benign 0.00
R7570:Cyp2c69 UTSW 19 39,848,342 (GRCm39) missense probably damaging 1.00
R7663:Cyp2c69 UTSW 19 39,865,953 (GRCm39) nonsense probably null
R7785:Cyp2c69 UTSW 19 39,839,610 (GRCm39) missense probably damaging 1.00
R7795:Cyp2c69 UTSW 19 39,864,663 (GRCm39) missense probably benign
R7920:Cyp2c69 UTSW 19 39,866,247 (GRCm39) splice site probably null
R7930:Cyp2c69 UTSW 19 39,831,434 (GRCm39) missense possibly damaging 0.47
R8203:Cyp2c69 UTSW 19 39,869,584 (GRCm39) missense probably damaging 1.00
R8888:Cyp2c69 UTSW 19 39,869,910 (GRCm39) missense possibly damaging 0.65
R8895:Cyp2c69 UTSW 19 39,869,910 (GRCm39) missense possibly damaging 0.65
R9530:Cyp2c69 UTSW 19 39,848,311 (GRCm39) missense possibly damaging 0.82
R9645:Cyp2c69 UTSW 19 39,869,593 (GRCm39) missense probably damaging 1.00
R9665:Cyp2c69 UTSW 19 39,839,504 (GRCm39) missense possibly damaging 0.73
R9753:Cyp2c69 UTSW 19 39,865,991 (GRCm39) missense probably benign 0.44
Posted On 2015-04-16