Mutagenetix > Incidental Mutation

Incidental Mutation 'R7814:Cyp7b1'

601339

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7814 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18071950-18243338 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 18097302 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 249 (S249L)

Ref Sequence

ENSEMBL: ENSMUSP00000037487 (fasta)

Gene Model

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

AlphaFold

Q60991

Predicted Effect

probably benign
Transcript: ENSMUST00000035625
AA Change: S249L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000037487
Gene: ENSMUSG00000039519
AA Change: S249L

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: 99.2%

Validation Efficiency

100% (90/90)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110065P20Rik	C	T	4: 124,850,602	G20R	not run	Het
4931409K22Rik	G	T	5: 24,545,422	Q626K	possibly damaging	Het
Adamts13	A	T	2: 26,996,549	M927L	probably benign	Het
Akap6	T	A	12: 53,140,961	N1719K	probably benign	Het
Ank3	G	A	10: 69,986,904	V468M		Het
Aox1	A	G	1: 58,085,467	T956A	probably benign	Het
Ap4m1	T	C	5: 138,174,817	V140A	probably benign	Het
Apc	A	G	18: 34,272,539	T173A	probably damaging	Het
Bclaf1	A	G	10: 20,334,619	T839A	possibly damaging	Het
Btn2a2	T	A	13: 23,482,806	I210F	possibly damaging	Het
Cadps	A	G	14: 12,376,706	W1269R	probably damaging	Het
Capn2	G	C	1: 182,492,146	P159R	probably damaging	Het
Ccdc134	T	G	15: 82,131,523	V68G	probably damaging	Het
Cdh26	A	G	2: 178,470,035	T463A	probably damaging	Het
Cfap206	C	T	4: 34,716,347	V373I	probably benign	Het
Clpx	T	C	9: 65,324,301		probably null	Het
Ctnnd2	A	T	15: 31,020,728	Y1145F	probably benign	Het
Ctr9	T	A	7: 111,033,927	D127E	probably benign	Het
Cyp2f2	G	A	7: 27,129,253	V183I	probably benign	Het
D630023F18Rik	T	A	1: 65,116,691	D125V	possibly damaging	Het
Dbh	A	T	2: 27,174,848	Y357F	probably damaging	Het
Dbp	T	A	7: 45,706,990	L175Q	probably benign	Het
Dmwd	A	T	7: 19,080,843	T473S	probably benign	Het
Dnah9	T	A	11: 66,005,660	Q2446L	probably damaging	Het
Dnmbp	T	C	19: 43,854,176	K498R	probably benign	Het
Dopey2	T	A	16: 93,799,971	I1924N	probably damaging	Het
Dsg1a	T	A	18: 20,338,515		probably null	Het
Dzank1	T	C	2: 144,522,564	T38A	probably damaging	Het
Egfem1	A	G	3: 29,686,791	H538R	probably damaging	Het
Entpd1	T	C	19: 40,727,447	C353R	probably damaging	Het
Ephx2	C	A	14: 66,110,229	C78F	probably benign	Het
Faf2	A	T	13: 54,660,961	H388L	probably benign	Het
Fam186a	G	A	15: 99,944,664	T1233I	possibly damaging	Het
Gfra2	C	A	14: 70,895,970	A80E	probably damaging	Het
Gif	C	A	19: 11,750,187	P125Q	probably benign	Het
Gm17175	T	A	14: 51,574,035		probably benign	Het
Gm8180	T	C	14: 43,783,646	D35G	possibly damaging	Het
Gm884	T	A	11: 103,614,173	H2323L	possibly damaging	Het
Gpr68	C	T	12: 100,879,043	V81M	probably damaging	Het
Hsd3b6	A	G	3: 98,810,943	L35P	probably damaging	Het
Hspd1	A	C	1: 55,078,644	V485G	possibly damaging	Het
Il16	A	G	7: 83,670,140	V381A	possibly damaging	Het
Il17rd	G	A	14: 27,100,117	C600Y	probably benign	Het
Ins2	C	A	7: 142,679,586		probably benign	Het
Itsn2	T	C	12: 4,658,561	I872T	probably benign	Het
Jakmip3	A	T	7: 139,019,129	D219V	probably damaging	Het
Jph4	T	C	14: 55,109,735	T452A	probably damaging	Het
Kazn	T	C	4: 142,210,170	E12G	unknown	Het
Kif20b	A	C	19: 34,950,955	S1206R	possibly damaging	Het
Lca5l	A	G	16: 96,162,557		probably null	Het
Lgals2	A	T	15: 78,851,333	S60R	probably benign	Het
Map10	A	G	8: 125,671,611	E581G	probably benign	Het
Map2k7	G	T	8: 4,243,744	R128L	probably benign	Het
Mapk8	G	C	14: 33,410,877	S34*	probably null	Het
Mcat	A	G	15: 83,547,909	Y253H	probably damaging	Het
Mmp2	T	C	8: 92,850,170	L607P	probably benign	Het
Ncor1	A	T	11: 62,333,926	V836E	probably damaging	Het
Neb	A	G	2: 52,137,380	S7113P	probably damaging	Het
Nphp4	T	C	4: 152,524,272	F446L	possibly damaging	Het
Nphp4	G	T	4: 152,544,403	D749Y	probably damaging	Het
Olfr115	T	A	17: 37,610,656	T32S	probably benign	Het
Olfr1185-ps1	A	G	2: 88,499,072		probably benign	Het
Olfr175-ps1	T	C	16: 58,824,002	K236E	probably damaging	Het
Olfr338	T	C	2: 36,376,809	I11T	possibly damaging	Het
Osbpl11	A	T	16: 33,210,061	R220*	probably null	Het
Plrg1	G	A	3: 83,056,837	V26M	probably damaging	Het
Polr1b	C	A	2: 129,125,544	F952L	probably damaging	Het
Ppfia3	A	C	7: 45,352,262	S560A	probably benign	Het
Ppp3cc	T	A	14: 70,225,015	N391I	possibly damaging	Het
Prdx6b	T	C	2: 80,292,960	S38P	possibly damaging	Het
Psg23	A	T	7: 18,606,914	*472R	probably null	Het
Rapgef4	A	T	2: 72,223,117	M587L	probably benign	Het
Rfx3	T	A	19: 27,826,070	M247L	probably benign	Het
Rgs7	T	A	1: 175,076,069	H463L	probably benign	Het
Riiad1	G	T	3: 94,465,855	S106R	probably benign	Het
Rims4	A	C	2: 163,918,628	I19S	probably benign	Het
Ros1	A	T	10: 52,096,137	M1648K	probably benign	Het
Rrn3	T	C	16: 13,811,589	F590L	probably benign	Het
Samd9l	T	A	6: 3,374,793	T823S	possibly damaging	Het
Sfxn1	C	A	13: 54,091,231	P115Q	possibly damaging	Het
Slc10a7	T	C	8: 78,698,573		probably null	Het
Slc25a16	A	T	10: 62,937,420	M142L	probably benign	Het
Stat2	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	10: 128,290,728		probably benign	Het
Stat5a	T	G	11: 100,875,027	L313R	probably damaging	Het
Strap	A	G	6: 137,741,978	E176G	possibly damaging	Het
Tlr4	T	G	4: 66,841,079	L703R	probably damaging	Het
Trim36	A	T	18: 46,167,624	V660D	possibly damaging	Het
Tspoap1	T	A	11: 87,775,524	D980E	probably damaging	Het
Usp28	T	C	9: 49,003,918	V157A	probably benign	Het
Vmn2r17	A	T	5: 109,427,873	R203S	probably benign	Het
Vmn2r66	T	C	7: 85,007,264	I181M	probably benign	Het
Zan	T	A	5: 137,463,579	T1113S	unknown	Het
Zfp442	C	T	2: 150,409,482	D167N	possibly damaging	Het

Other mutations in Cyp7b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02728:Cyp7b1	APN	3	18072575	missense	probably damaging	1.00
R0166:Cyp7b1	UTSW	3	18097366	missense	probably benign	0.23
R0334:Cyp7b1	UTSW	3	18103796	missense	probably damaging	1.00
R0417:Cyp7b1	UTSW	3	18096691	missense	probably damaging	1.00
R0696:Cyp7b1	UTSW	3	18072585	missense	probably benign	0.23
R0894:Cyp7b1	UTSW	3	18097510	missense	probably benign	0.00
R1799:Cyp7b1	UTSW	3	18097452	missense	probably benign	0.01
R1893:Cyp7b1	UTSW	3	18096567	missense	possibly damaging	0.57
R4538:Cyp7b1	UTSW	3	18097581	missense	possibly damaging	0.71
R4692:Cyp7b1	UTSW	3	18072564	missense	probably damaging	0.97
R4877:Cyp7b1	UTSW	3	18097293	missense	probably damaging	0.98
R5382:Cyp7b1	UTSW	3	18097221	missense	possibly damaging	0.53
R5841:Cyp7b1	UTSW	3	18097506	missense	probably damaging	1.00
R6867:Cyp7b1	UTSW	3	18097230	missense	probably damaging	1.00
R7007:Cyp7b1	UTSW	3	18097618	nonsense	probably null
R7379:Cyp7b1	UTSW	3	18097374	missense	probably benign	0.23
R7554:Cyp7b1	UTSW	3	18097446	missense	probably benign	0.00
R8137:Cyp7b1	UTSW	3	18097601	missense	probably benign	0.23
R8338:Cyp7b1	UTSW	3	18097566	missense	probably benign	0.01
R8898:Cyp7b1	UTSW	3	18096624	missense	probably benign	0.29
R9132:Cyp7b1	UTSW	3	18097312	missense	probably benign	0.05
R9285:Cyp7b1	UTSW	3	18097400	missense	probably damaging	1.00
R9378:Cyp7b1	UTSW	3	18096673	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCTTCTGAAGTCTAATTTTCTGC -3'
(R):5'- TGCATTCTGTGGCTCACTGG -3'

Sequencing Primer
(F):5'- GGAGTAAATGCCACTTAGTTATACTC -3'
(R):5'- GGCTCACTGGTATTTGAGATCAC -3'

Posted On

2019-11-26