Incidental Mutation 'R8137:Cyp7b1'
ID 632291
Institutional Source Beutler Lab
Gene Symbol Cyp7b1
Ensembl Gene ENSMUSG00000039519
Gene Name cytochrome P450, family 7, subfamily b, polypeptide 1
Synonyms D3Ertd552e, hct-1
MMRRC Submission 067565-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8137 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 18126114-18297502 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 18151765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 149 (D149E)
Ref Sequence ENSEMBL: ENSMUSP00000037487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035625]
AlphaFold Q60991
Predicted Effect probably benign
Transcript: ENSMUST00000035625
AA Change: D149E

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000037487
Gene: ENSMUSG00000039519
AA Change: D149E

DomainStartEndE-ValueType
transmembrane domain 15 34 N/A INTRINSIC
Pfam:p450 44 496 1e-52 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.8%
  • 20x: 96.4%
Validation Efficiency 100% (56/56)
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 endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a knock-out allele show significantly increased levels of 25- and 27-hydroxycholesterol, and reduced IgA levels. Female mice homozygous for a reporter allele display early onset of puberty and early ovarian failure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankfn1 T G 11: 89,344,003 (GRCm39) Q326H probably benign Het
Carf G A 1: 60,187,124 (GRCm39) V576I probably benign Het
Ccnl1 C T 3: 65,865,291 (GRCm39) D87N possibly damaging Het
Cgref1 T A 5: 31,091,749 (GRCm39) D111V possibly damaging Het
Cnot4 G A 6: 35,023,222 (GRCm39) P567S unknown Het
Dcc A T 18: 71,511,783 (GRCm39) D877E probably benign Het
Dhx8 T A 11: 101,654,808 (GRCm39) I1032N probably damaging Het
Dnah7b A G 1: 46,272,913 (GRCm39) Y2347C probably damaging Het
Dtx3 A G 10: 127,029,041 (GRCm39) S63P possibly damaging Het
Dyrk2 C T 10: 118,695,789 (GRCm39) E490K probably benign Het
Fcgbp A C 7: 27,804,496 (GRCm39) Y1868S probably damaging Het
Foxa2 T C 2: 147,885,768 (GRCm39) H355R probably benign Het
Fpr-rs7 A G 17: 20,334,055 (GRCm39) V145A possibly damaging Het
Gm14137 A T 2: 119,005,837 (GRCm39) E132V probably benign Het
Gpn2 T C 4: 133,315,873 (GRCm39) S211P possibly damaging Het
Greb1l A T 18: 10,474,357 (GRCm39) Q224L possibly damaging Het
Gspt1 A G 16: 11,058,532 (GRCm39) V144A probably benign Het
Ifi204 A G 1: 173,589,188 (GRCm39) I81T possibly damaging Het
Il27ra T A 8: 84,767,720 (GRCm39) probably null Het
Kif21a T C 15: 90,852,645 (GRCm39) T862A probably benign Het
Klf2 T C 8: 73,074,088 (GRCm39) probably null Het
Kmt2e A G 5: 23,706,952 (GRCm39) Y1505C probably damaging Het
Mcm9 T C 10: 53,499,076 (GRCm39) T216A Het
Muc16 T C 9: 18,556,972 (GRCm39) E3107G unknown Het
Ncor2 C T 5: 125,114,957 (GRCm39) V169I Het
Oas3 T C 5: 120,915,565 (GRCm39) Q42R probably benign Het
Or2l5 A G 16: 19,333,846 (GRCm39) V180A possibly damaging Het
Or4p8 T C 2: 88,727,013 (GRCm39) *309W probably null Het
Pde10a A G 17: 9,193,647 (GRCm39) Y693C possibly damaging Het
Pde11a T C 2: 76,041,383 (GRCm39) E429G possibly damaging Het
Pramel23 A G 4: 143,425,835 (GRCm39) F36S probably damaging Het
Pygo1 A G 9: 72,852,140 (GRCm39) H109R probably damaging Het
Rbsn A T 6: 92,167,003 (GRCm39) V547D probably benign Het
Ros1 A G 10: 52,001,933 (GRCm39) I1084T possibly damaging Het
Sis T C 3: 72,796,378 (GRCm39) D1801G probably benign Het
Slco4c1 C T 1: 96,748,970 (GRCm39) G649E probably damaging Het
Spmip10 A G 18: 56,727,653 (GRCm39) D117G probably damaging Het
Sptbn2 A T 19: 4,787,431 (GRCm39) I914F possibly damaging Het
Srebf2 C T 15: 82,062,966 (GRCm39) R468C probably damaging Het
Strc C T 2: 121,197,219 (GRCm39) G1503R probably damaging Het
Sv2c T A 13: 96,225,171 (GRCm39) Y46F probably damaging Het
Tctn3 A T 19: 40,593,785 (GRCm39) W462R probably damaging Het
Tjp3 T C 10: 81,109,525 (GRCm39) D857G probably benign Het
Tor1aip2 C T 1: 155,939,414 (GRCm39) T242I possibly damaging Het
Ttn T A 2: 76,800,273 (GRCm39) I312F unknown Het
Vezt T C 10: 93,775,154 (GRCm39) N94D Het
Vmn2r105 T C 17: 20,454,966 (GRCm39) N57D probably benign Het
Wdr59 T C 8: 112,212,011 (GRCm39) D353G Het
Ykt6 T C 11: 5,909,368 (GRCm39) V59A probably damaging Het
Ypel3 T G 7: 126,377,269 (GRCm39) V54G possibly damaging Het
Zfp386 T A 12: 116,023,268 (GRCm39) C329S possibly damaging Het
Zfp451 A T 1: 33,821,156 (GRCm39) L232H possibly damaging Het
Zfp648 A G 1: 154,081,110 (GRCm39) H423R probably damaging Het
Zfp729b T C 13: 67,740,861 (GRCm39) Y468C probably damaging Het
Other mutations in Cyp7b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02728:Cyp7b1 APN 3 18,126,739 (GRCm39) missense probably damaging 1.00
R0166:Cyp7b1 UTSW 3 18,151,530 (GRCm39) missense probably benign 0.23
R0334:Cyp7b1 UTSW 3 18,157,960 (GRCm39) missense probably damaging 1.00
R0417:Cyp7b1 UTSW 3 18,150,855 (GRCm39) missense probably damaging 1.00
R0696:Cyp7b1 UTSW 3 18,126,749 (GRCm39) missense probably benign 0.23
R0894:Cyp7b1 UTSW 3 18,151,674 (GRCm39) missense probably benign 0.00
R1799:Cyp7b1 UTSW 3 18,151,616 (GRCm39) missense probably benign 0.01
R1893:Cyp7b1 UTSW 3 18,150,731 (GRCm39) missense possibly damaging 0.57
R4538:Cyp7b1 UTSW 3 18,151,745 (GRCm39) missense possibly damaging 0.71
R4692:Cyp7b1 UTSW 3 18,126,728 (GRCm39) missense probably damaging 0.97
R4877:Cyp7b1 UTSW 3 18,151,457 (GRCm39) missense probably damaging 0.98
R5382:Cyp7b1 UTSW 3 18,151,385 (GRCm39) missense possibly damaging 0.53
R5841:Cyp7b1 UTSW 3 18,151,670 (GRCm39) missense probably damaging 1.00
R6867:Cyp7b1 UTSW 3 18,151,394 (GRCm39) missense probably damaging 1.00
R7007:Cyp7b1 UTSW 3 18,151,782 (GRCm39) nonsense probably null
R7379:Cyp7b1 UTSW 3 18,151,538 (GRCm39) missense probably benign 0.23
R7554:Cyp7b1 UTSW 3 18,151,610 (GRCm39) missense probably benign 0.00
R7814:Cyp7b1 UTSW 3 18,151,466 (GRCm39) missense probably benign 0.00
R8338:Cyp7b1 UTSW 3 18,151,730 (GRCm39) missense probably benign 0.01
R8898:Cyp7b1 UTSW 3 18,150,788 (GRCm39) missense probably benign 0.29
R9132:Cyp7b1 UTSW 3 18,151,476 (GRCm39) missense probably benign 0.05
R9285:Cyp7b1 UTSW 3 18,151,564 (GRCm39) missense probably damaging 1.00
R9378:Cyp7b1 UTSW 3 18,150,837 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTATGTCAGATACTAAGTATGGGAAC -3'
(R):5'- TGAACCCTTTCCAGTACCAGTATG -3'

Sequencing Primer
(F):5'- CATCCCTTAGCTCACTGATAATTTG -3'
(R):5'- ACCCTTTCCAGTACCAGTATGTAACG -3'
Posted On 2020-06-30