Incidental Mutation 'PIT4151001:Cyp4a10'
ID 557014
Institutional Source Beutler Lab
Gene Symbol Cyp4a10
Ensembl Gene ENSMUSG00000066072
Gene Name cytochrome P450, family 4, subfamily a, polypeptide 10
Synonyms Msp-3, Cyp4a, RP1, D4Rp1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # PIT4151001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 115375484-115390846 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 115382072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 251 (H251Q)
Ref Sequence ENSEMBL: ENSMUSP00000092486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058785] [ENSMUST00000094886]
AlphaFold O88833
Predicted Effect possibly damaging
Transcript: ENSMUST00000058785
AA Change: H261Q

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000061126
Gene: ENSMUSG00000066072
AA Change: H261Q

DomainStartEndE-ValueType
transmembrane domain 15 32 N/A INTRINSIC
Pfam:p450 51 504 2.3e-133 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000094886
AA Change: H251Q

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092486
Gene: ENSMUSG00000066072
AA Change: H251Q

DomainStartEndE-ValueType
transmembrane domain 17 39 N/A INTRINSIC
Pfam:p450 51 494 4.5e-129 PFAM
Meta Mutation Damage Score 0.4575 question?
Coding Region Coverage
  • 1x: 92.7%
  • 3x: 90.4%
  • 10x: 84.6%
  • 20x: 72.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display salt-sensitive hypertension, decrease sodium excretion, and decreased urine output. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,930,670 (GRCm39) L1389P probably damaging Het
Acot10 C T 15: 20,666,684 (GRCm39) G19D probably damaging Het
Adam20 G A 8: 41,248,081 (GRCm39) V64I possibly damaging Het
Ak6 T A 13: 100,791,603 (GRCm39) D15E probably damaging Het
Atp1a2 A G 1: 172,118,288 (GRCm39) Y129H probably damaging Het
Caskin1 C T 17: 24,721,193 (GRCm39) T511I probably damaging Het
Casp9 C T 4: 141,521,259 (GRCm39) R32* probably null Het
Ccdc40 A G 11: 119,133,277 (GRCm39) E445G probably damaging Het
Cct8 T C 16: 87,284,545 (GRCm39) E273G probably damaging Het
Chd5 G A 4: 152,462,986 (GRCm39) V1380I probably damaging Het
Coro2b C T 9: 62,336,286 (GRCm39) G272D probably damaging Het
Dgki A T 6: 37,040,916 (GRCm39) H298Q probably benign Het
Dnmt3b T G 2: 153,526,399 (GRCm39) probably null Het
Dzip1 A G 14: 119,160,200 (GRCm39) F3L probably damaging Het
Egf A G 3: 129,496,198 (GRCm39) S807P probably benign Het
Emc10 C T 7: 44,142,627 (GRCm39) R105H Het
Enthd1 T C 15: 80,336,937 (GRCm39) E499G probably damaging Het
Eps8l1 G A 7: 4,474,414 (GRCm39) S295N probably benign Het
Fer1l5 T A 1: 36,450,728 (GRCm39) M1242K probably benign Het
Gm3415 A G 5: 146,493,079 (GRCm39) R36G probably benign Het
Gm5797 C A 14: 7,330,318 (GRCm38) M114I possibly damaging Het
Gmppa A T 1: 75,418,468 (GRCm39) R284* probably null Het
Homer1 G C 13: 93,485,724 (GRCm39) K118N probably damaging Het
Ivl TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG 3: 92,479,608 (GRCm39) probably benign Het
Kcnc4 G A 3: 107,366,019 (GRCm39) A63V probably damaging Het
Kif11 T A 19: 37,373,045 (GRCm39) I88N probably damaging Het
Krba1 T C 6: 48,379,831 (GRCm39) F9S probably damaging Het
Nckap1 A G 2: 80,350,714 (GRCm39) probably null Het
Nox4 A T 7: 86,954,097 (GRCm39) Y134F probably benign Het
Or4a79 T A 2: 89,552,237 (GRCm39) T73S probably benign Het
Or51f23c-ps1 T C 7: 102,431,465 (GRCm39) S261P probably benign Het
Or52e15 A G 7: 104,645,424 (GRCm39) L229P probably damaging Het
Or5m13b T A 2: 85,754,386 (GRCm39) M258K probably damaging Het
Or5m8 T C 2: 85,822,538 (GRCm39) C126R probably damaging Het
Or8k22 G T 2: 86,163,173 (GRCm39) H176N possibly damaging Het
Pcdh17 G T 14: 84,684,798 (GRCm39) V422L probably benign Het
Pcx T A 19: 4,653,157 (GRCm39) V275E probably damaging Het
Pde6h A T 6: 136,938,185 (GRCm39) M53L possibly damaging Het
Phactr3 A T 2: 177,975,861 (GRCm39) E535D probably damaging Het
Pkn3 C A 2: 29,980,539 (GRCm39) T810N probably damaging Het
Pnpla5 T C 15: 84,002,827 (GRCm39) E252G probably damaging Het
Pramel21 T A 4: 143,342,722 (GRCm39) C276* probably null Het
Psg17 A G 7: 18,548,530 (GRCm39) S414P probably benign Het
Pzp T A 6: 128,502,259 (GRCm39) Q30L probably benign Het
Reln A T 5: 22,491,894 (GRCm39) F113I possibly damaging Het
Ret T C 6: 118,141,702 (GRCm39) D975G probably benign Het
Sarnp A G 10: 128,713,235 (GRCm39) I209V probably benign Het
Sorl1 A T 9: 41,879,918 (GRCm39) V2210D probably damaging Het
Stard9 C T 2: 120,533,237 (GRCm39) Q3165* probably null Het
Tmem64 A T 4: 15,283,159 (GRCm39) I319F probably damaging Het
Vmn1r176 A T 7: 23,534,808 (GRCm39) V115D probably damaging Het
Vmn1r2 A G 4: 3,172,623 (GRCm39) T181A probably benign Het
Vmn2r2 T C 3: 64,024,334 (GRCm39) E749G possibly damaging Het
Vps35 G A 8: 86,010,677 (GRCm39) T222I possibly damaging Het
Zfp532 A G 18: 65,757,485 (GRCm39) T473A probably damaging Het
Zfyve16 A G 13: 92,657,712 (GRCm39) V733A probably damaging Het
Zranb1 T A 7: 132,551,723 (GRCm39) S125T probably benign Het
Other mutations in Cyp4a10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00774:Cyp4a10 APN 4 115,389,735 (GRCm39) missense probably damaging 1.00
IGL01301:Cyp4a10 APN 4 115,375,652 (GRCm39) missense probably damaging 1.00
IGL02081:Cyp4a10 APN 4 115,378,369 (GRCm39) missense possibly damaging 0.87
IGL02373:Cyp4a10 APN 4 115,378,274 (GRCm39) nonsense probably null
IGL03411:Cyp4a10 APN 4 115,382,890 (GRCm39) splice site probably null
ANU18:Cyp4a10 UTSW 4 115,375,652 (GRCm39) missense probably damaging 1.00
PIT4142001:Cyp4a10 UTSW 4 115,382,072 (GRCm39) missense probably damaging 0.99
R0016:Cyp4a10 UTSW 4 115,378,304 (GRCm39) missense probably damaging 1.00
R0368:Cyp4a10 UTSW 4 115,382,574 (GRCm39) nonsense probably null
R1319:Cyp4a10 UTSW 4 115,378,342 (GRCm39) missense probably damaging 0.98
R1440:Cyp4a10 UTSW 4 115,386,646 (GRCm39) missense probably damaging 1.00
R1531:Cyp4a10 UTSW 4 115,375,632 (GRCm39) nonsense probably null
R2008:Cyp4a10 UTSW 4 115,382,589 (GRCm39) missense probably damaging 0.98
R2064:Cyp4a10 UTSW 4 115,381,917 (GRCm39) splice site probably benign
R2083:Cyp4a10 UTSW 4 115,382,505 (GRCm39) missense possibly damaging 0.86
R2961:Cyp4a10 UTSW 4 115,377,467 (GRCm39) missense probably benign 0.02
R3028:Cyp4a10 UTSW 4 115,375,628 (GRCm39) missense possibly damaging 0.64
R3839:Cyp4a10 UTSW 4 115,382,544 (GRCm39) missense possibly damaging 0.85
R3930:Cyp4a10 UTSW 4 115,381,980 (GRCm39) missense probably benign 0.00
R4062:Cyp4a10 UTSW 4 115,376,898 (GRCm39) missense probably benign 0.06
R4097:Cyp4a10 UTSW 4 115,386,480 (GRCm39) missense probably damaging 0.99
R4298:Cyp4a10 UTSW 4 115,389,889 (GRCm39) missense probably damaging 1.00
R4482:Cyp4a10 UTSW 4 115,389,795 (GRCm39) missense probably damaging 1.00
R4592:Cyp4a10 UTSW 4 115,386,690 (GRCm39) missense probably damaging 0.99
R4715:Cyp4a10 UTSW 4 115,382,535 (GRCm39) missense probably benign 0.44
R4826:Cyp4a10 UTSW 4 115,375,541 (GRCm39) missense probably benign 0.00
R4834:Cyp4a10 UTSW 4 115,383,005 (GRCm39) missense probably damaging 1.00
R4922:Cyp4a10 UTSW 4 115,378,291 (GRCm39) missense probably benign 0.01
R5202:Cyp4a10 UTSW 4 115,389,812 (GRCm39) missense probably damaging 1.00
R5502:Cyp4a10 UTSW 4 115,382,702 (GRCm39) missense probably benign 0.21
R6269:Cyp4a10 UTSW 4 115,381,509 (GRCm39) missense probably damaging 1.00
R6349:Cyp4a10 UTSW 4 115,382,555 (GRCm39) missense probably benign 0.00
R7684:Cyp4a10 UTSW 4 115,375,549 (GRCm39) missense probably benign 0.18
R7863:Cyp4a10 UTSW 4 115,375,622 (GRCm39) missense probably benign 0.00
R8392:Cyp4a10 UTSW 4 115,386,675 (GRCm39) nonsense probably null
R8445:Cyp4a10 UTSW 4 115,382,791 (GRCm39) missense probably damaging 1.00
R8744:Cyp4a10 UTSW 4 115,386,667 (GRCm39) missense probably benign 0.00
R9264:Cyp4a10 UTSW 4 115,381,475 (GRCm39) missense probably benign 0.03
R9297:Cyp4a10 UTSW 4 115,378,375 (GRCm39) missense probably damaging 1.00
R9299:Cyp4a10 UTSW 4 115,376,947 (GRCm39) missense probably benign 0.00
R9393:Cyp4a10 UTSW 4 115,382,566 (GRCm39) missense probably damaging 1.00
Z1176:Cyp4a10 UTSW 4 115,375,523 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTCCTACCATATAGAAATCTCCCAG -3'
(R):5'- TGTTCCAACTCCCAACACTG -3'

Sequencing Primer
(F):5'- GAAATCTCCCAGAGTCCATTCTATC -3'
(R):5'- CACTGTCAGAGTTAAAGTATCAAGC -3'
Posted On 2019-06-07