Incidental Mutation 'IGL01354:Cyp2d34'
ID75472
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2d34
Ensembl Gene ENSMUSG00000094559
Gene Namecytochrome P450, family 2, subfamily d, polypeptide 34
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL01354
Quality Score
Status
Chromosome15
Chromosomal Location82615965-82620946 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 82617622 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 229 (T229M)
Ref Sequence ENSEMBL: ENSMUSP00000105141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109515] [ENSMUST00000229833]
Predicted Effect probably benign
Transcript: ENSMUST00000109515
AA Change: T229M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000105141
Gene: ENSMUSG00000094559
AA Change: T229M

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Pfam:p450 37 497 3.2e-141 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184667
Predicted Effect probably benign
Transcript: ENSMUST00000229833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230103
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230716
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231012
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 A G 10: 83,527,376 L41P probably damaging Het
Baz2b T C 2: 59,968,889 Q297R probably benign Het
Chl1 A T 6: 103,665,853 Q184L probably benign Het
Cyp2a5 A G 7: 26,837,103 D169G possibly damaging Het
Fgd5 C T 6: 92,061,843 R995* probably null Het
Gaa T C 11: 119,270,568 S146P probably benign Het
Gm11437 T A 11: 84,167,318 probably benign Het
Gm6614 T C 6: 141,990,408 N317S probably benign Het
Inpp5a T C 7: 139,538,234 F235L probably damaging Het
Lpp T A 16: 24,762,066 Y177* probably null Het
Malt1 A G 18: 65,475,191 Y654C probably damaging Het
Olfr1302 A C 2: 111,780,901 N194H possibly damaging Het
Olfr1380 T C 11: 49,564,197 I92T probably damaging Het
Olfr878 G A 9: 37,919,544 V301I possibly damaging Het
Otog A G 7: 46,289,726 N2060S probably damaging Het
Phc1 G A 6: 122,334,083 T98I probably damaging Het
Pik3cb A G 9: 99,064,168 I535T possibly damaging Het
Plxna2 A G 1: 194,762,435 I712V probably benign Het
Psmc2 A G 5: 21,795,836 E103G possibly damaging Het
Ptprb A G 10: 116,343,891 I1405V probably benign Het
Ralgapa1 T C 12: 55,777,316 N260D possibly damaging Het
Reln G A 5: 21,919,175 Q2778* probably null Het
Sptlc1 T A 13: 53,333,951 Q452L probably benign Het
Traf4 C A 11: 78,165,400 R14L possibly damaging Het
Ubap2 T C 4: 41,207,005 E191G probably damaging Het
Vstm4 A T 14: 32,919,245 T262S probably benign Het
Zrsr1 T A 11: 22,974,190 H321Q probably damaging Het
Other mutations in Cyp2d34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Cyp2d34 APN 15 82617535 missense probably damaging 0.96
IGL00914:Cyp2d34 APN 15 82620714 missense probably damaging 0.98
IGL01347:Cyp2d34 APN 15 82616777 missense possibly damaging 0.89
IGL01681:Cyp2d34 APN 15 82617131 critical splice donor site probably null
IGL01733:Cyp2d34 APN 15 82618660 missense possibly damaging 0.73
IGL02231:Cyp2d34 APN 15 82618606 missense probably benign 0.44
IGL02425:Cyp2d34 APN 15 82618279 missense probably benign
IGL03219:Cyp2d34 APN 15 82618539 missense probably benign 0.01
R0684:Cyp2d34 UTSW 15 82617550 missense probably benign 0.06
R0811:Cyp2d34 UTSW 15 82618606 missense probably benign 0.44
R0812:Cyp2d34 UTSW 15 82618606 missense probably benign 0.44
R1617:Cyp2d34 UTSW 15 82620845 missense probably benign 0.21
R1756:Cyp2d34 UTSW 15 82617524 missense probably damaging 1.00
R1827:Cyp2d34 UTSW 15 82616094 missense probably benign 0.00
R1962:Cyp2d34 UTSW 15 82618608 missense probably benign 0.10
R2102:Cyp2d34 UTSW 15 82616773 missense probably benign 0.17
R2113:Cyp2d34 UTSW 15 82617616 missense probably damaging 1.00
R2432:Cyp2d34 UTSW 15 82619011 missense probably damaging 1.00
R2566:Cyp2d34 UTSW 15 82616167 missense probably damaging 1.00
R3154:Cyp2d34 UTSW 15 82617566 missense probably benign 0.04
R3834:Cyp2d34 UTSW 15 82616746 critical splice donor site probably null
R3881:Cyp2d34 UTSW 15 82618617 missense probably benign 0.00
R4022:Cyp2d34 UTSW 15 82618608 missense probably benign 0.10
R4181:Cyp2d34 UTSW 15 82617285 splice site probably null
R4613:Cyp2d34 UTSW 15 82616325 missense probably damaging 0.98
R4636:Cyp2d34 UTSW 15 82620728 missense probably damaging 1.00
R4695:Cyp2d34 UTSW 15 82616891 missense probably benign
R4993:Cyp2d34 UTSW 15 82618329 missense probably damaging 1.00
R5262:Cyp2d34 UTSW 15 82618371 missense probably damaging 1.00
R5402:Cyp2d34 UTSW 15 82619086 missense probably damaging 1.00
R5772:Cyp2d34 UTSW 15 82617140 missense probably null 0.24
R5874:Cyp2d34 UTSW 15 82619042 missense probably benign 0.04
R6051:Cyp2d34 UTSW 15 82616770 missense probably damaging 1.00
R6057:Cyp2d34 UTSW 15 82616351 missense probably benign
R6143:Cyp2d34 UTSW 15 82620776 missense probably benign 0.25
R6452:Cyp2d34 UTSW 15 82616089 missense probably benign 0.00
R7296:Cyp2d34 UTSW 15 82617235 missense possibly damaging 0.87
R7391:Cyp2d34 UTSW 15 82618386 missense probably benign 0.14
R7398:Cyp2d34 UTSW 15 82616763 missense probably benign 0.04
Posted On2013-10-07