Incidental Mutation 'IGL01455:Cyp2c29'
ID84739
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2c29
Ensembl Gene ENSMUSG00000003053
Gene Namecytochrome P450, family 2, subfamily c, polypeptide 29
SynonymsAh-2, Cyp2c, P450-2C, Ahh-1, AHOHase, AHOH
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.147) question?
Stock #IGL01455
Quality Score
Status
Chromosome19
Chromosomal Location39269405-39330713 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 39329117 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 349 (I349K)
Ref Sequence ENSEMBL: ENSMUSP00000135863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003137] [ENSMUST00000176624] [ENSMUST00000177087]
Predicted Effect possibly damaging
Transcript: ENSMUST00000003137
AA Change: I388K

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000003137
Gene: ENSMUSG00000003053
AA Change: I388K

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
Pfam:p450 30 487 5.4e-165 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000176624
AA Change: I349K

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135863
Gene: ENSMUSG00000003053
AA Change: I349K

DomainStartEndE-ValueType
Pfam:p450 12 448 2.7e-156 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177087
SMART Domains Protein: ENSMUSP00000135839
Gene: ENSMUSG00000003053

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
Pfam:p450 30 118 8.4e-22 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,323,305 D87G possibly damaging Het
Adgra3 G A 5: 49,987,557 R565* probably null Het
Akap12 C T 10: 4,356,886 T1232I probably damaging Het
B3gnt2 A T 11: 22,837,042 W49R probably damaging Het
Ccdc112 T A 18: 46,293,444 K137N possibly damaging Het
Ccdc117 G T 11: 5,534,297 T181K possibly damaging Het
Cfh T C 1: 140,105,539 K756E possibly damaging Het
Clca1 C T 3: 145,007,778 M697I probably benign Het
Dcaf15 T C 8: 84,098,590 T434A probably benign Het
Entpd5 T C 12: 84,394,677 I106V probably benign Het
Eps8l1 T A 7: 4,478,923 probably benign Het
Erbin G T 13: 103,859,387 P269Q probably damaging Het
Fam172a A T 13: 77,902,647 probably benign Het
Fbxw22 C T 9: 109,384,994 M251I probably benign Het
Fgd4 T A 16: 16,490,490 T9S probably benign Het
Gm17689 T A 9: 36,581,363 H82L probably benign Het
Haus8 T C 8: 71,253,231 I270V probably benign Het
Herc4 T A 10: 63,286,143 probably null Het
Hspg2 G A 4: 137,553,817 V3367M probably damaging Het
Htr1f A T 16: 64,926,022 F302L probably damaging Het
Inpp5f T C 7: 128,678,049 C458R probably damaging Het
Klhl18 T C 9: 110,432,443 E411G probably damaging Het
Krt20 A T 11: 99,431,943 F289I probably benign Het
Mical1 T C 10: 41,479,069 probably null Het
Nav1 T C 1: 135,469,635 D932G probably benign Het
Nme4 A T 17: 26,092,062 D176E probably benign Het
Nox4 C T 7: 87,376,216 S517L possibly damaging Het
Olfr341 A T 2: 36,479,356 L258H probably damaging Het
Pip5k1a T C 3: 95,068,160 D333G probably benign Het
Polb T C 8: 22,653,072 Y36C probably damaging Het
Spta1 T C 1: 174,203,311 I953T possibly damaging Het
Sptb A T 12: 76,612,912 D1071E probably damaging Het
Stxbp3-ps T C 19: 9,558,007 noncoding transcript Het
Tmcc3 A T 10: 94,586,755 I356F probably damaging Het
Tmem262 G T 19: 6,080,159 R6L probably damaging Het
Tnks C A 8: 34,940,900 V225L probably damaging Het
Other mutations in Cyp2c29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Cyp2c29 APN 19 39321699 splice site probably benign
IGL00482:Cyp2c29 APN 19 39325023 missense probably damaging 0.97
IGL00694:Cyp2c29 APN 19 39321635 missense possibly damaging 0.64
IGL00836:Cyp2c29 APN 19 39324990 missense probably damaging 0.98
IGL00858:Cyp2c29 APN 19 39307656 missense probably damaging 1.00
IGL01350:Cyp2c29 APN 19 39330327 missense probably damaging 1.00
IGL01718:Cyp2c29 APN 19 39330260 missense possibly damaging 0.48
IGL01977:Cyp2c29 APN 19 39290897 splice site probably benign
IGL01991:Cyp2c29 APN 19 39330315 missense probably damaging 1.00
IGL02097:Cyp2c29 APN 19 39307620 missense probably damaging 1.00
IGL02267:Cyp2c29 APN 19 39330422 missense probably benign 0.19
IGL02451:Cyp2c29 APN 19 39290847 missense possibly damaging 0.66
IGL02452:Cyp2c29 APN 19 39290847 missense possibly damaging 0.66
IGL02548:Cyp2c29 APN 19 39290847 missense possibly damaging 0.66
IGL02549:Cyp2c29 APN 19 39309785 missense possibly damaging 0.48
IGL02938:Cyp2c29 APN 19 39287123 missense probably damaging 0.99
IGL03252:Cyp2c29 APN 19 39287175 missense probably damaging 1.00
IGL03367:Cyp2c29 APN 19 39329215 missense probably damaging 0.97
H8562:Cyp2c29 UTSW 19 39309662 missense probably damaging 1.00
IGL03052:Cyp2c29 UTSW 19 39287218 missense possibly damaging 0.90
R0415:Cyp2c29 UTSW 19 39329095 splice site probably benign
R0504:Cyp2c29 UTSW 19 39309780 missense probably benign 0.29
R0690:Cyp2c29 UTSW 19 39309726 missense probably benign 0.00
R1531:Cyp2c29 UTSW 19 39324968 missense probably damaging 1.00
R1730:Cyp2c29 UTSW 19 39324945 missense possibly damaging 0.79
R1981:Cyp2c29 UTSW 19 39307772 splice site probably null
R2113:Cyp2c29 UTSW 19 39330264 missense probably damaging 1.00
R2220:Cyp2c29 UTSW 19 39287232 missense probably benign 0.09
R3873:Cyp2c29 UTSW 19 39329144 missense probably damaging 0.99
R4424:Cyp2c29 UTSW 19 39287176 missense probably damaging 0.98
R4451:Cyp2c29 UTSW 19 39290826 missense probably damaging 0.99
R4803:Cyp2c29 UTSW 19 39324995 missense probably benign 0.01
R5288:Cyp2c29 UTSW 19 39330372 missense probably damaging 0.96
R5474:Cyp2c29 UTSW 19 39324992 missense probably damaging 1.00
R5475:Cyp2c29 UTSW 19 39330287 missense possibly damaging 0.91
R5893:Cyp2c29 UTSW 19 39330389 missense possibly damaging 0.93
R5894:Cyp2c29 UTSW 19 39330389 missense possibly damaging 0.93
R6000:Cyp2c29 UTSW 19 39307606 critical splice acceptor site probably null
R6144:Cyp2c29 UTSW 19 39321609 missense possibly damaging 0.96
R6296:Cyp2c29 UTSW 19 39330261 missense possibly damaging 0.64
R6365:Cyp2c29 UTSW 19 39307754 missense probably damaging 1.00
R6449:Cyp2c29 UTSW 19 39290867 missense probably benign 0.05
R6464:Cyp2c29 UTSW 19 39329225 missense probably damaging 0.96
R6919:Cyp2c29 UTSW 19 39291141 missense probably benign 0.26
R6978:Cyp2c29 UTSW 19 39321663 missense probably damaging 1.00
R7038:Cyp2c29 UTSW 19 39287127 missense probably benign 0.01
R7040:Cyp2c29 UTSW 19 39330337 missense possibly damaging 0.95
R7391:Cyp2c29 UTSW 19 39307767 missense probably null 0.98
X0024:Cyp2c29 UTSW 19 39321599 missense probably benign 0.01
Z1176:Cyp2c29 UTSW 19 39324997 missense probably benign 0.08
Posted On2013-11-11