Mutagenetix > Incidental Mutation

Incidental Mutation 'R7032:Cyp7a1'

546367

Institutional Source

Beutler Lab

Gene Symbol

Cyp7a1

Ensembl Gene

ENSMUSG00000028240

Gene Name

cytochrome P450, family 7, subfamily a, polypeptide 1

Synonyms

cholesterol 7 alpha hydroxylase

MMRRC Submission

045133-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.376) question?

Stock #

R7032 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6265612-6275632 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6268463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 421 (T421A)

Ref Sequence

ENSEMBL: ENSMUSP00000029905 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029905]

AlphaFold

Q64505

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029905
AA Change: T421A

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029905
Gene: ENSMUSG00000028240
AA Change: T421A

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
Pfam:p450	32	497	2.3e-87	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (67/67)

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 in the liver, which converts cholesterol to bile acids. This reaction is the rate limiting step and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of cholesterol from the body. Polymorphisms in the promoter of this gene are associated with defects in bile acid synthesis. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for disruption of this gene experience severe neonatal and postnatal lethality. Supplementation of the maternal diet with fat soluble vitamins and cholic acid starting before birth alleviates much of the phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 88,120,438 (GRCm39)	D398E	possibly damaging	Het
Adam34	T	C	8: 44,105,303 (GRCm39)	Y114C	probably damaging	Het
Akap9	T	A	5: 4,004,896 (GRCm39)	D156E	probably benign	Het
Apba1	T	A	19: 23,889,825 (GRCm39)	S408T	probably benign	Het
Asb14	C	T	14: 26,625,412 (GRCm39)	H256Y	probably benign	Het
Atf6	A	T	1: 170,627,181 (GRCm39)		probably null	Het
Atp6v1b2	T	A	8: 69,541,548 (GRCm39)	V35E	probably benign	Het
Atp8a2	T	C	14: 60,255,289 (GRCm39)		probably null	Het
Ccdc170	C	A	10: 4,432,597 (GRCm39)	P12Q	unknown	Het
Cdh23	C	T	10: 60,167,567 (GRCm39)	E1810K	probably damaging	Het
Cdo1	A	T	18: 46,853,475 (GRCm39)	F94L	probably damaging	Het
Cfap96	T	G	8: 46,409,474 (GRCm39)	S282R	probably damaging	Het
Chdh	C	T	14: 29,758,809 (GRCm39)	P585S	possibly damaging	Het
Clasp2	A	G	9: 113,683,391 (GRCm39)	N407S	probably benign	Het
Clca3a1	T	A	3: 144,453,329 (GRCm39)	S465C	probably benign	Het
Clip2	C	A	5: 134,551,484 (GRCm39)	V213L	probably damaging	Het
Col6a6	A	G	9: 105,644,707 (GRCm39)	S1194P	probably damaging	Het
Dhh	C	T	15: 98,791,907 (GRCm39)	G367E	possibly damaging	Het
Dnah5	A	G	15: 28,326,796 (GRCm39)	N2002D	probably damaging	Het
Epn2	T	A	11: 61,437,528 (GRCm39)	N15Y	probably damaging	Het
Evi5	A	C	5: 107,936,147 (GRCm39)	V647G	probably benign	Het
Eya1	T	C	1: 14,353,424 (GRCm39)		probably null	Het
Fam120a	A	G	13: 49,102,589 (GRCm39)	V222A	probably benign	Het
Fastkd5	A	T	2: 130,457,864 (GRCm39)	I242K	possibly damaging	Het
Hnrnpul1	A	G	7: 25,450,319 (GRCm39)	M131T	probably benign	Het
Ice1	T	C	13: 70,744,283 (GRCm39)	N2100S	probably damaging	Het
Ifi205	T	A	1: 173,855,916 (GRCm39)	D38V	possibly damaging	Het
Klhl9	G	A	4: 88,639,843 (GRCm39)	Q133*	probably null	Het
Krt84	T	C	15: 101,436,924 (GRCm39)	E370G	probably benign	Het
Lrrc4c	T	C	2: 97,459,410 (GRCm39)	I12T	probably benign	Het
Lrriq4	T	A	3: 30,709,850 (GRCm39)	L398*	probably null	Het
Ltf	G	A	9: 110,855,198 (GRCm39)		probably null	Het
Macf1	C	T	4: 123,366,101 (GRCm39)	V1322I	probably benign	Het
Mark2	T	A	19: 7,264,698 (GRCm39)	I112L	probably damaging	Het
Mettl25b	A	G	3: 87,831,649 (GRCm39)		probably null	Het
Mterf2	A	T	10: 84,956,527 (GRCm39)	C32*	probably null	Het
Myo3b	C	T	2: 69,925,608 (GRCm39)	T25I	probably damaging	Het
Nsun7	A	C	5: 66,421,378 (GRCm39)	I115L	probably benign	Het
Olfm3	G	A	3: 114,883,805 (GRCm39)	V36M	probably damaging	Het
Or1p1c	T	C	11: 74,160,428 (GRCm39)	I71T	possibly damaging	Het
Or5d44	T	C	2: 88,141,373 (GRCm39)	T256A	probably benign	Het
Or8b3	A	T	9: 38,314,965 (GRCm39)	Y262F	possibly damaging	Het
Or8g18	A	T	9: 39,148,983 (GRCm39)	S246T	possibly damaging	Het
Pcdhgb8	A	T	18: 37,896,962 (GRCm39)	R677S	probably benign	Het
Prrt4	A	C	6: 29,170,538 (GRCm39)	L638R	possibly damaging	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Rab44	T	C	17: 29,359,438 (GRCm39)	F542S	unknown	Het
Rhobtb3	T	A	13: 76,020,513 (GRCm39)	E596D	probably benign	Het
Rpl36	T	C	17: 56,920,944 (GRCm39)	I44T	probably benign	Het
Rptor	A	G	11: 119,737,762 (GRCm39)	I112V	probably benign	Het
Rxfp2	T	C	5: 149,993,813 (GRCm39)	I611T	probably damaging	Het
Slc12a4	G	T	8: 106,675,865 (GRCm39)	N553K	probably damaging	Het
Spata31d1d	T	A	13: 59,876,046 (GRCm39)	R496S	probably benign	Het
Strbp	T	C	2: 37,493,125 (GRCm39)	D387G	possibly damaging	Het
Tas2r107	A	T	6: 131,636,153 (GRCm39)	C299S	possibly damaging	Het
Tbc1d21	A	T	9: 58,274,134 (GRCm39)		probably null	Het
Tdrd12	A	T	7: 35,180,471 (GRCm39)	Y847*	probably null	Het
Tlr2	A	T	3: 83,745,212 (GRCm39)	N290K	probably benign	Het
Tmppe	A	G	9: 114,234,858 (GRCm39)	T386A	probably damaging	Het
Tnks1bp1	C	A	2: 84,892,297 (GRCm39)	H741Q	probably benign	Het
Trpc6	G	A	9: 8,609,951 (GRCm39)	V140M	probably damaging	Het
Ttn	T	C	2: 76,641,932 (GRCm39)	D13427G	probably damaging	Het
Uba7	C	A	9: 107,853,371 (GRCm39)	L106I	possibly damaging	Het
Unc5b	T	G	10: 60,614,587 (GRCm39)	T237P	probably damaging	Het
Vit	A	C	17: 78,932,294 (GRCm39)	D467A	probably damaging	Het
Vmn1r103	T	C	7: 20,243,780 (GRCm39)	Y227C	possibly damaging	Het
Vmn1r77	T	A	7: 11,776,017 (GRCm39)	Y196*	probably null	Het
Zhx3	A	G	2: 160,622,898 (GRCm39)	V423A	probably damaging	Het

Other mutations in Cyp7a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01298:Cyp7a1	APN	4	6,275,517 (GRCm39)	missense	probably damaging	1.00
IGL01577:Cyp7a1	APN	4	6,273,618 (GRCm39)	missense	probably damaging	1.00
IGL01723:Cyp7a1	APN	4	6,272,442 (GRCm39)	missense	probably damaging	1.00
IGL02602:Cyp7a1	APN	4	6,272,871 (GRCm39)	missense	possibly damaging	0.88
IGL03302:Cyp7a1	APN	4	6,273,801 (GRCm39)	missense	probably benign	0.05
R1017:Cyp7a1	UTSW	4	6,272,307 (GRCm39)	missense	probably damaging	1.00
R1737:Cyp7a1	UTSW	4	6,272,848 (GRCm39)	missense	probably benign	0.00
R2044:Cyp7a1	UTSW	4	6,275,492 (GRCm39)	missense	probably null	1.00
R2326:Cyp7a1	UTSW	4	6,268,396 (GRCm39)	missense	probably benign
R2867:Cyp7a1	UTSW	4	6,272,493 (GRCm39)	missense	probably damaging	0.99
R2867:Cyp7a1	UTSW	4	6,272,493 (GRCm39)	missense	probably damaging	0.99
R3438:Cyp7a1	UTSW	4	6,272,769 (GRCm39)	missense	probably damaging	1.00
R4181:Cyp7a1	UTSW	4	6,271,205 (GRCm39)	missense	probably benign	0.09
R4844:Cyp7a1	UTSW	4	6,273,655 (GRCm39)	missense	probably damaging	1.00
R5184:Cyp7a1	UTSW	4	6,271,207 (GRCm39)	missense	probably benign
R5371:Cyp7a1	UTSW	4	6,268,378 (GRCm39)	missense	probably damaging	1.00
R5613:Cyp7a1	UTSW	4	6,272,799 (GRCm39)	missense	probably damaging	1.00
R5682:Cyp7a1	UTSW	4	6,268,429 (GRCm39)	missense	probably benign	0.28
R5987:Cyp7a1	UTSW	4	6,268,476 (GRCm39)	missense	probably benign	0.05
R5995:Cyp7a1	UTSW	4	6,272,371 (GRCm39)	missense	possibly damaging	0.74
R6128:Cyp7a1	UTSW	4	6,272,788 (GRCm39)	missense	possibly damaging	0.80
R6552:Cyp7a1	UTSW	4	6,272,361 (GRCm39)	nonsense	probably null
R6860:Cyp7a1	UTSW	4	6,272,587 (GRCm39)	missense	probably damaging	1.00
R7631:Cyp7a1	UTSW	4	6,272,763 (GRCm39)	missense	possibly damaging	0.89
R7884:Cyp7a1	UTSW	4	6,272,697 (GRCm39)	missense	probably benign	0.04
R8289:Cyp7a1	UTSW	4	6,268,295 (GRCm39)	missense	probably damaging	1.00
R8681:Cyp7a1	UTSW	4	6,271,207 (GRCm39)	missense	probably benign
R8721:Cyp7a1	UTSW	4	6,268,273 (GRCm39)	missense	probably damaging	1.00
R8931:Cyp7a1	UTSW	4	6,271,238 (GRCm39)	missense	possibly damaging	0.57
R9613:Cyp7a1	UTSW	4	6,272,587 (GRCm39)	missense	probably damaging	1.00
R9748:Cyp7a1	UTSW	4	6,269,216 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCAAAATTCCCAAGCCTGC -3'
(R):5'- AAGAGCTACTAATTCCTCCTGCTC -3'

Sequencing Primer
(F):5'- CTGATCTAGAGGGGGACACTTG -3'
(R):5'- TCTGCTTCACAGCTGACTG -3'

Posted On

2019-05-13