Mutagenetix > Incidental Mutation

Incidental Mutation 'R8338:Cyp7b1'

644721

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

067730-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8338 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18126114-18297502 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18151730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 161 (E161G)

Ref Sequence

ENSEMBL: ENSMUSP00000037487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035625]

AlphaFold

Q60991

Predicted Effect

probably benign
Transcript: ENSMUST00000035625
AA Change: E161G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000037487
Gene: ENSMUSG00000039519
AA Change: E161G

Domain	Start	End	E-Value	Type
transmembrane domain	15	34	N/A	INTRINSIC
Pfam:p450	44	496	1e-52	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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 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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	T	C	5: 137,290,006 (GRCm39)	L445P	probably damaging	Het
Agrn	G	A	4: 156,253,018 (GRCm39)	T1773I	probably benign	Het
Arap3	A	G	18: 38,106,683 (GRCm39)	S1387P	probably damaging	Het
Bcl11a	G	C	11: 24,114,578 (GRCm39)	K640N	probably damaging	Het
Bicd1	G	A	6: 149,414,621 (GRCm39)	V445I	probably benign	Het
Bltp3a	A	G	17: 28,095,669 (GRCm39)	N26S	probably damaging	Het
C2cd6	A	C	1: 59,099,734 (GRCm39)	N402K	probably benign	Het
Celsr3	C	T	9: 108,704,539 (GRCm39)	Q341*	probably null	Het
Cers1	A	G	8: 70,783,772 (GRCm39)	E240G	possibly damaging	Het
Cfap157	G	T	2: 32,668,018 (GRCm39)	T441N	possibly damaging	Het
Cfap44	G	A	16: 44,239,698 (GRCm39)		probably null	Het
Chd1	A	G	17: 15,990,242 (GRCm39)	Y1598C	probably damaging	Het
Ckap2l	T	G	2: 129,126,939 (GRCm39)	Q413P	probably damaging	Het
Cobl	T	C	11: 12,203,696 (GRCm39)	E1002G	probably benign	Het
Cryge	G	A	1: 65,087,933 (GRCm39)	T156M	unknown	Het
Cubn	A	C	2: 13,435,658 (GRCm39)	F1099L	probably benign	Het
Dnah10	A	G	5: 124,909,566 (GRCm39)	E4452G	probably damaging	Het
Dnah2	C	T	11: 69,378,122 (GRCm39)	R1273Q	probably damaging	Het
Dnah3	T	C	7: 119,671,104 (GRCm39)	E593G	probably benign	Het
Dnah9	C	A	11: 65,732,067 (GRCm39)		probably null	Het
Dnajc22	C	A	15: 98,999,022 (GRCm39)	P69Q	probably benign	Het
Fam171a2	T	A	11: 102,329,172 (GRCm39)	D529V	probably benign	Het
Fbxl17	T	C	17: 63,663,753 (GRCm39)	I579V	possibly damaging	Het
Fry	C	T	5: 150,282,516 (GRCm39)	T347M	probably damaging	Het
Gm13272	A	C	4: 88,698,364 (GRCm39)	D93A	probably benign	Het
Grm4	A	T	17: 27,653,977 (GRCm39)	F658I	probably damaging	Het
Hmcn1	G	A	1: 150,614,485 (GRCm39)	T1307I	probably benign	Het
Igkv12-98	G	A	6: 68,548,159 (GRCm39)	S96N	probably benign	Het
Il2ra	A	T	2: 11,687,885 (GRCm39)	T222S	probably benign	Het
Il5ra	G	T	6: 106,689,350 (GRCm39)	T414K	probably benign	Het
Isg15	T	A	4: 156,284,088 (GRCm39)	I147F	probably benign	Het
Kif14	C	A	1: 136,422,416 (GRCm39)	A902E	probably damaging	Het
Lcat	G	A	8: 106,666,719 (GRCm39)	R268C	probably damaging	Het
Lipa	T	C	19: 34,471,477 (GRCm39)	N366S	probably benign	Het
Lrp4	A	G	2: 91,322,713 (GRCm39)	T1101A	probably benign	Het
Man1a	T	A	10: 53,801,643 (GRCm39)		probably null	Het
Mib1	A	G	18: 10,726,372 (GRCm39)	D23G	probably benign	Het
Morc2b	A	T	17: 33,355,387 (GRCm39)	M795K	probably benign	Het
Msantd5f1	T	A	4: 73,605,435 (GRCm39)	M282K	possibly damaging	Het
Mycbp2	T	A	14: 103,372,701 (GRCm39)	E4048D	probably damaging	Het
Myo7b	A	G	18: 32,104,408 (GRCm39)	S1447P	probably damaging	Het
Myt1	A	T	2: 181,443,655 (GRCm39)	T536S	possibly damaging	Het
Nod1	A	T	6: 54,920,956 (GRCm39)	L454Q	probably damaging	Het
Nrf1	T	A	6: 30,140,247 (GRCm39)	W199R		Het
Or10w1	T	A	19: 13,632,216 (GRCm39)	M141K	possibly damaging	Het
Or13a27	T	A	7: 139,925,306 (GRCm39)	M199L	probably benign	Het
Or14c44	T	C	7: 86,061,702 (GRCm39)	I44T	probably benign	Het
Or8k27	A	T	2: 86,275,729 (GRCm39)	M199K	probably benign	Het
Or9a4	T	C	6: 40,548,910 (GRCm39)	F197L	probably benign	Het
Ostn	G	T	16: 27,143,285 (GRCm39)	A38S	probably benign	Het
Paxbp1	A	T	16: 90,833,435 (GRCm39)	D266E	probably damaging	Het
Pcdhb14	G	T	18: 37,582,175 (GRCm39)	G427V	probably damaging	Het
Pdzrn3	A	T	6: 101,127,783 (GRCm39)	M961K	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Prdx5	T	C	19: 6,884,632 (GRCm39)	D148G	probably damaging	Het
Ptprj	A	T	2: 90,301,481 (GRCm39)	I217N	possibly damaging	Het
Rccd1	A	T	7: 79,970,618 (GRCm39)	L54Q	possibly damaging	Het
Rfx6	T	A	10: 51,594,190 (GRCm39)	V370E	probably damaging	Het
Sdr16c6	C	T	4: 4,076,620 (GRCm39)	C93Y	probably damaging	Het
Shroom1	A	G	11: 53,354,107 (GRCm39)	D9G	probably benign	Het
Snrpe	A	G	1: 133,536,681 (GRCm39)	V33A	probably benign	Het
Spats2	T	A	15: 99,076,340 (GRCm39)	D139E	probably damaging	Het
Spopfm1	A	G	3: 94,173,285 (GRCm39)	I94V	possibly damaging	Het
St18	A	G	1: 6,879,516 (GRCm39)	E405G	probably damaging	Het
Strap	A	T	6: 137,718,976 (GRCm39)	E176V	possibly damaging	Het
Stxbp5l	G	T	16: 36,994,718 (GRCm39)	T729K	probably damaging	Het
Synj2bp	G	A	12: 81,551,326 (GRCm39)	Q97*	probably null	Het
Tbc1d32	T	A	10: 55,904,173 (GRCm39)	Q1198L	possibly damaging	Het
Tmem98	T	C	11: 80,712,135 (GRCm39)	S191P	probably benign	Het
Tnn	C	T	1: 159,946,053 (GRCm39)	G922R	probably damaging	Het
Treh	A	G	9: 44,595,808 (GRCm39)	N366S	probably benign	Het
Ttn	T	G	2: 76,750,136 (GRCm39)	S3638R	probably benign	Het
Uggt1	A	G	1: 36,266,602 (GRCm39)	L124P	probably damaging	Het
V1rd19	A	T	7: 23,702,674 (GRCm39)	K47*	probably null	Het
Wdhd1	T	C	14: 47,506,120 (GRCm39)	M265V	probably benign	Het
Wsb1	T	C	11: 79,137,103 (GRCm39)	D168G	probably damaging	Het

Other mutations in Cyp7b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R8137:Cyp7b1	UTSW	3	18,151,765 (GRCm39)	missense	probably benign	0.23
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'- ACCCTTTCCAGTACCAGTATGTAAC -3'

Sequencing Primer
(F):5'- ATCATCCCTTAGCTCACTG -3'
(R):5'- TCCAGTACCAGTATGTAACGAAAAAC -3'

Posted On

2020-09-02