Incidental Mutation 'R9014:Cyp26c1'
ID 685877
Institutional Source Beutler Lab
Gene Symbol Cyp26c1
Ensembl Gene ENSMUSG00000062432
Gene Name cytochrome P450, family 26, subfamily c, polypeptide 1
Synonyms EG546726
MMRRC Submission 068844-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9014 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 37674029-37681846 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 37675844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000073105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066439] [ENSMUST00000073391]
AlphaFold B2RXA7
Predicted Effect probably benign
Transcript: ENSMUST00000066439
SMART Domains Protein: ENSMUSP00000064332
Gene: ENSMUSG00000053799

DomainStartEndE-ValueType
low complexity region 265 273 N/A INTRINSIC
Pfam:Sec15 456 762 8.1e-109 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000073391
SMART Domains Protein: ENSMUSP00000073105
Gene: ENSMUSG00000062432

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:p450 50 499 6.4e-54 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is involved in the catabolism of all-trans- and 9-cis-retinoic acid, and thus contributes to the regulation of retinoic acid levels in cells and tissues. This gene is adjacent to a related gene on chromosome 10q23.33. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and exhibit normal CNS development with no apparent anatomical defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 A G 15: 81,798,857 (GRCm39) N746S probably benign Het
Ahnak2 T C 12: 112,740,170 (GRCm39) T1301A possibly damaging Het
Akap6 T A 12: 53,186,403 (GRCm39) N1272K possibly damaging Het
Apc G T 18: 34,354,074 (GRCm39) probably benign Het
Arap1 A G 7: 101,053,540 (GRCm39) S1290G probably damaging Het
Arhgef25 T C 10: 127,019,607 (GRCm39) Y483C probably damaging Het
Arpp21 G T 9: 112,006,796 (GRCm39) Q138K probably damaging Het
Bahcc1 C T 11: 120,163,715 (GRCm39) A671V probably benign Het
Bahcc1 T C 11: 120,173,048 (GRCm39) S1557P probably benign Het
Bltp2 T C 11: 78,160,488 (GRCm39) L649P possibly damaging Het
Brca2 C A 5: 150,465,219 (GRCm39) T1661K probably benign Het
Casq1 T A 1: 172,038,064 (GRCm39) S356C probably damaging Het
Catsperg1 T C 7: 28,906,066 (GRCm39) Y171C probably damaging Het
Ccdc88c G C 12: 100,879,323 (GRCm39) Q1926E probably benign Het
Cdc42bpg T A 19: 6,372,289 (GRCm39) M1425K possibly damaging Het
Chac2 C T 11: 30,936,158 (GRCm39) R30Q probably damaging Het
Clca3a1 T C 3: 144,442,731 (GRCm39) D771G probably benign Het
Dcaf8 T C 1: 172,007,530 (GRCm39) V333A possibly damaging Het
Dennd4c G A 4: 86,739,702 (GRCm39) S997N probably benign Het
Dennd4c A C 4: 86,754,666 (GRCm39) I1559L probably benign Het
Dgcr8 T G 16: 18,077,514 (GRCm39) H632P possibly damaging Het
Dhx16 C A 17: 36,193,490 (GRCm39) R278S probably benign Het
Dsel A T 1: 111,788,509 (GRCm39) Y675* probably null Het
Dsp T C 13: 38,376,700 (GRCm39) I1495T possibly damaging Het
Fam227a T A 15: 79,504,958 (GRCm39) N495I possibly damaging Het
Fcgbpl1 A G 7: 27,854,876 (GRCm39) E1834G probably damaging Het
Focad T A 4: 88,275,763 (GRCm39) M1124K unknown Het
Foxi3 A G 6: 70,937,815 (GRCm39) H349R probably damaging Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,052,866 (GRCm39) probably benign Het
Fsip2 C A 2: 82,806,898 (GRCm39) D1072E probably benign Het
Fsip2 T G 2: 82,817,075 (GRCm39) H4269Q possibly damaging Het
Fzd10 C G 5: 128,679,369 (GRCm39) P363R probably damaging Het
Gm49383 A C 12: 69,243,425 (GRCm39) Y151* probably null Het
Ighv1-26 T A 12: 114,752,033 (GRCm39) S104C probably damaging Het
Kat6a A G 8: 23,430,087 (GRCm39) N1814S unknown Het
Kif18a T A 2: 109,123,414 (GRCm39) H229Q probably damaging Het
Klk1b4 C T 7: 43,859,098 (GRCm39) R39C probably benign Het
Lgr6 T C 1: 134,931,248 (GRCm39) I269V probably damaging Het
Lrtm2 A G 6: 119,294,219 (GRCm39) V304A probably damaging Het
Lsm8 A G 6: 18,853,632 (GRCm39) D78G possibly damaging Het
Mroh2b T C 15: 4,928,670 (GRCm39) M1T probably null Het
Ms4a14 T C 19: 11,278,871 (GRCm39) E1229G possibly damaging Het
Nbeal1 G A 1: 60,329,118 (GRCm39) D2179N probably damaging Het
Nfix G A 8: 85,448,405 (GRCm39) T366M possibly damaging Het
Or12j4 A T 7: 140,045,883 (GRCm39) probably benign Het
Or56b1b A G 7: 108,164,882 (GRCm39) L40P possibly damaging Het
Or8b49 T C 9: 38,506,123 (GRCm39) V202A probably damaging Het
Or8h9 T A 2: 86,789,035 (GRCm39) I256F probably benign Het
Pear1 T C 3: 87,658,479 (GRCm39) Q964R probably benign Het
Pgk2 T G 17: 40,518,687 (GRCm39) E247A probably benign Het
Ppfia2 C T 10: 106,763,666 (GRCm39) P1220S probably benign Het
Ppp1r1b T C 11: 98,241,449 (GRCm39) S46P probably damaging Het
Ppp2ca C A 11: 52,009,510 (GRCm39) H167Q probably damaging Het
Scel A T 14: 103,822,575 (GRCm39) R396S probably benign Het
Siae T C 9: 37,557,639 (GRCm39) V482A possibly damaging Het
Skint2 A G 4: 112,483,026 (GRCm39) M144V probably benign Het
Slc23a3 A G 1: 75,109,274 (GRCm39) F219L probably benign Het
Slc4a4 G T 5: 89,280,245 (GRCm39) A348S probably damaging Het
Spin1 G T 13: 51,282,010 (GRCm39) probably null Het
Tab2 G A 10: 7,794,920 (GRCm39) R521W probably damaging Het
Tas2r118 G A 6: 23,970,049 (GRCm39) T4M probably benign Het
Tet2 T A 3: 133,172,949 (GRCm39) D1771V probably damaging Het
Tmprss15 T C 16: 78,872,691 (GRCm39) T172A probably benign Het
Trav7-6 A G 14: 53,954,604 (GRCm39) K65E probably benign Het
Txnrd3 A G 6: 89,631,091 (GRCm39) Y129C probably damaging Het
Ulk4 A G 9: 121,017,294 (GRCm39) I728T probably benign Het
Vmn1r44 G A 6: 89,870,997 (GRCm39) V248M possibly damaging Het
Wdr64 A G 1: 175,526,395 (GRCm39) I15V probably benign Het
Zdhhc17 T C 10: 110,785,544 (GRCm39) T423A probably benign Het
Zfp619 T C 7: 39,187,246 (GRCm39) I1092T probably benign Het
Zfp729b A T 13: 67,740,274 (GRCm39) Y664N probably damaging Het
Other mutations in Cyp26c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02008:Cyp26c1 APN 19 37,677,372 (GRCm39) missense probably damaging 1.00
IGL02008:Cyp26c1 APN 19 37,677,371 (GRCm39) missense probably damaging 1.00
IGL02713:Cyp26c1 APN 19 37,681,667 (GRCm39) missense probably damaging 1.00
IGL02836:Cyp26c1 APN 19 37,675,604 (GRCm39) missense probably benign 0.00
R0114:Cyp26c1 UTSW 19 37,675,081 (GRCm39) missense probably benign 0.24
R0671:Cyp26c1 UTSW 19 37,675,009 (GRCm39) missense probably damaging 1.00
R1544:Cyp26c1 UTSW 19 37,679,393 (GRCm39) missense probably benign 0.03
R1959:Cyp26c1 UTSW 19 37,675,825 (GRCm39) missense probably damaging 0.99
R1961:Cyp26c1 UTSW 19 37,675,825 (GRCm39) missense probably damaging 0.99
R4393:Cyp26c1 UTSW 19 37,675,105 (GRCm39) missense probably damaging 1.00
R4488:Cyp26c1 UTSW 19 37,681,658 (GRCm39) missense probably benign
R4532:Cyp26c1 UTSW 19 37,674,227 (GRCm39) missense probably damaging 1.00
R4687:Cyp26c1 UTSW 19 37,681,385 (GRCm39) missense probably damaging 1.00
R6302:Cyp26c1 UTSW 19 37,674,936 (GRCm39) missense probably damaging 1.00
R7334:Cyp26c1 UTSW 19 37,677,323 (GRCm39) missense probably benign
R7634:Cyp26c1 UTSW 19 37,681,447 (GRCm39) missense probably damaging 1.00
R8375:Cyp26c1 UTSW 19 37,675,660 (GRCm39) missense probably benign 0.19
R8681:Cyp26c1 UTSW 19 37,675,065 (GRCm39) missense probably damaging 0.99
R9462:Cyp26c1 UTSW 19 37,681,634 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TGTTTACCAGGCGGCCAAAG -3'
(R):5'- TGAGGCACCACTTTGAGAAACG -3'

Sequencing Primer
(F):5'- AGCACTCACCTTCCGCATGG -3'
(R):5'- GGATGCTTGCCACTAAGACTC -3'
Posted On 2021-10-11