Incidental Mutation 'R0515:Cyp3a41a'
ID 48184
Institutional Source Beutler Lab
Gene Symbol Cyp3a41a
Ensembl Gene ENSMUSG00000075551
Gene Name cytochrome P450, family 3, subfamily a, polypeptide 41A
Synonyms steroid inducible, Cyp3a41
MMRRC Submission 038709-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.179) question?
Stock # R0515 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 145630859-145656946 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 145654810 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 30 (H30Q)
Ref Sequence ENSEMBL: ENSMUSP00000091659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094111]
AlphaFold Q9JMA7
Predicted Effect probably damaging
Transcript: ENSMUST00000094111
AA Change: H30Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091659
Gene: ENSMUSG00000075551
AA Change: H30Q

DomainStartEndE-ValueType
Pfam:p450 38 494 1.7e-136 PFAM
Meta Mutation Damage Score 0.3102 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
App C T 16: 84,900,232 (GRCm39) probably benign Het
Arhgap11a G A 2: 113,667,816 (GRCm39) T395I possibly damaging Het
Arhgef38 T G 3: 132,855,301 (GRCm39) H262P probably damaging Het
Cd96 A G 16: 45,884,268 (GRCm39) probably benign Het
Cfap57 A G 4: 118,477,599 (GRCm39) S2P probably damaging Het
Cltc A G 11: 86,599,865 (GRCm39) S948P probably benign Het
Dcp2 C T 18: 44,532,798 (GRCm39) L105F probably benign Het
Dennd4c T C 4: 86,731,703 (GRCm39) V887A possibly damaging Het
Dnaaf9 A G 2: 130,582,408 (GRCm39) V515A probably damaging Het
Gm11360 T A 13: 28,140,143 (GRCm39) D2E probably damaging Het
Gpank1 G T 17: 35,342,475 (GRCm39) A149S probably damaging Het
Gtf2i C A 5: 134,271,773 (GRCm39) S792I probably damaging Het
Hvcn1 A G 5: 122,371,582 (GRCm39) N41D probably damaging Het
Klk1b5 A G 7: 43,867,957 (GRCm39) Y43C probably damaging Het
Lmtk2 A G 5: 144,111,809 (GRCm39) D843G possibly damaging Het
Lrriq1 A T 10: 102,904,829 (GRCm39) probably null Het
Mapk8ip1 A T 2: 92,217,701 (GRCm39) I198N possibly damaging Het
Mill1 T C 7: 17,998,798 (GRCm39) V336A probably benign Het
Mroh7 T A 4: 106,548,861 (GRCm39) M1001L probably benign Het
Nfe2 T A 15: 103,157,854 (GRCm39) T46S probably null Het
Or8b40 T C 9: 38,027,313 (GRCm39) S74P probably damaging Het
Or9q1 T C 19: 13,805,185 (GRCm39) S192G probably damaging Het
Parp4 T C 14: 56,851,124 (GRCm39) V709A probably damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Prex2 A T 1: 11,270,098 (GRCm39) Q1261L probably damaging Het
Prl8a8 T A 13: 27,692,350 (GRCm39) I214L probably damaging Het
Rictor C T 15: 6,798,782 (GRCm39) T343M probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Siglecf T C 7: 43,005,055 (GRCm39) probably null Het
Slco1b2 T C 6: 141,615,136 (GRCm39) F347S possibly damaging Het
Sox13 A T 1: 133,311,457 (GRCm39) Y592N probably damaging Het
Synj1 C T 16: 90,790,910 (GRCm39) A84T possibly damaging Het
Tent5b A T 4: 133,213,450 (GRCm39) H107L possibly damaging Het
Trpv5 T A 6: 41,651,145 (GRCm39) probably benign Het
Tshz1 A G 18: 84,034,090 (GRCm39) V106A probably benign Het
Other mutations in Cyp3a41a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02284:Cyp3a41a APN 5 145,641,673 (GRCm39) splice site probably benign
IGL03003:Cyp3a41a APN 5 145,642,640 (GRCm39) missense probably benign
R0006:Cyp3a41a UTSW 5 145,641,606 (GRCm39) missense probably benign 0.01
R1052:Cyp3a41a UTSW 5 145,642,621 (GRCm39) missense possibly damaging 0.49
R3708:Cyp3a41a UTSW 5 145,654,733 (GRCm39) critical splice donor site probably null
R4049:Cyp3a41a UTSW 5 145,650,350 (GRCm39) missense probably damaging 1.00
R4755:Cyp3a41a UTSW 5 145,652,316 (GRCm39) missense probably damaging 1.00
R4975:Cyp3a41a UTSW 5 145,656,858 (GRCm39) start codon destroyed probably null 1.00
R6519:Cyp3a41a UTSW 5 145,652,308 (GRCm39) missense probably damaging 1.00
R6788:Cyp3a41a UTSW 5 145,642,639 (GRCm39) missense probably benign 0.00
R7184:Cyp3a41a UTSW 5 145,642,663 (GRCm39) missense probably benign 0.01
R7372:Cyp3a41a UTSW 5 145,650,374 (GRCm39) missense possibly damaging 0.67
R7451:Cyp3a41a UTSW 5 145,636,550 (GRCm39) missense probably benign 0.10
R7463:Cyp3a41a UTSW 5 145,650,374 (GRCm39) missense probably damaging 1.00
R7766:Cyp3a41a UTSW 5 145,654,827 (GRCm39) missense probably damaging 0.99
R9179:Cyp3a41a UTSW 5 145,642,654 (GRCm39) missense probably benign
R9225:Cyp3a41a UTSW 5 145,650,414 (GRCm39) missense probably benign 0.03
R9300:Cyp3a41a UTSW 5 145,656,906 (GRCm39) start gained probably benign
R9308:Cyp3a41a UTSW 5 145,656,858 (GRCm39) start codon destroyed probably null 1.00
R9403:Cyp3a41a UTSW 5 145,639,008 (GRCm39) missense probably damaging 0.99
R9635:Cyp3a41a UTSW 5 145,652,320 (GRCm39) missense possibly damaging 0.95
R9682:Cyp3a41a UTSW 5 145,652,326 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- TGCACACACTTATGGGCACTCAC -3'
(R):5'- TGAGAACTCAGCATACATGAATACCAGC -3'

Sequencing Primer
(F):5'- catccacatccacacacatatac -3'
(R):5'- GATGGAGCCCAGTTGTTGAT -3'
Posted On 2013-06-12