Mutagenetix > Incidental Mutation

Incidental Mutation 'R9765:Cyp3a13'

733200

Institutional Source

Beutler Lab

Gene Symbol

Cyp3a13

Ensembl Gene

ENSMUSG00000029727

Gene Name

cytochrome P450, family 3, subfamily a, polypeptide 13

Synonyms

steroid inducible, IIIAm2

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9765 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137891194-137919881 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 137909883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Alanine at position 147 (P147A)

Ref Sequence

ENSEMBL: ENSMUSP00000031741 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031741]

AlphaFold

Q64464

Predicted Effect

probably damaging
Transcript: ENSMUST00000031741
AA Change: P147A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031741
Gene: ENSMUSG00000029727
AA Change: P147A

Domain	Start	End	E-Value	Type
low complexity region	14	24	N/A	INTRINSIC
Pfam:p450	38	493	1.3e-130	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.6%

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, which participate in drug metabolism and the synthesis of cholesterol, steroids and other lipids. This enzyme hydroxylates testosterone and dehydroepiandrosterone 3-sulphate, which is involved in the formation of estriol during pregnancy. This gene is part of a cluster of related genes on chromosome 7q21.1. Naturally-occurring readthrough transcription occurs between this gene and the downstream CYP3A51P pseudogene and is represented by GeneID:100861540. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a knock-out allele show no apparent alterations in hematology, plasma clinical chemistry or pathology. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(3)

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,404,829 (GRCm39)	V25I	probably benign	Het
Actr1b	T	A	1: 36,741,677 (GRCm39)	H65L	probably benign	Het
Adgrf5	G	A	17: 43,748,491 (GRCm39)	G440E	probably damaging	Het
Ash1l	T	A	3: 88,930,500 (GRCm39)	D1992E	probably damaging	Het
Cacng4	A	G	11: 107,632,809 (GRCm39)	F81S	probably damaging	Het
Cdca8	A	G	4: 124,814,122 (GRCm39)	I223T	probably benign	Het
Cdh19	A	G	1: 110,823,111 (GRCm39)		probably null	Het
Ces2f	A	G	8: 105,676,678 (GRCm39)	D124G	probably damaging	Het
Cks1brt	A	G	8: 85,898,234 (GRCm39)	Y29C	probably damaging	Het
Cntnap4	T	C	8: 113,484,110 (GRCm39)	S388P	probably benign	Het
Cntnap4	T	C	8: 113,568,496 (GRCm39)	I844T	probably damaging	Het
Col4a3	G	A	1: 82,646,678 (GRCm39)	W396*	probably null	Het
Cul9	A	T	17: 46,850,224 (GRCm39)	S449T	probably benign	Het
Cux2	G	A	5: 122,007,195 (GRCm39)	P822L	probably benign	Het
Dennd2a	C	T	6: 39,473,907 (GRCm39)		probably null	Het
Dgkg	T	C	16: 22,298,157 (GRCm39)	M743V	possibly damaging	Het
Dhx35	C	T	2: 158,671,501 (GRCm39)	R311W	probably benign	Het
Dnase1l2	A	T	17: 24,660,049 (GRCm39)	V273E	probably damaging	Het
Dock8	T	G	19: 25,146,832 (GRCm39)	I1437S	possibly damaging	Het
Dpy19l3	T	C	7: 35,408,056 (GRCm39)	D450G	probably benign	Het
Dsg4	G	A	18: 20,604,334 (GRCm39)	V934I	probably benign	Het
Eef2	T	A	10: 81,015,010 (GRCm39)	F236L	possibly damaging	Het
Eml4	A	G	17: 83,747,498 (GRCm39)	I247V	probably damaging	Het
Evi5	A	C	5: 107,947,120 (GRCm39)	C451G	probably benign	Het
Fam124a	T	G	14: 62,824,883 (GRCm39)	W126G	probably damaging	Het
Fbxw21	A	G	9: 108,975,625 (GRCm39)	I257T	possibly damaging	Het
Fn3krp	A	G	11: 121,312,304 (GRCm39)	K6E	probably benign	Het
Gcn1	G	A	5: 115,735,131 (GRCm39)	W1149*	probably null	Het
Glud1	C	T	14: 34,060,795 (GRCm39)	R453*	probably null	Het
Gtf2f1	G	A	17: 57,318,125 (GRCm39)		probably benign	Het
Gtpbp4	T	A	13: 9,024,994 (GRCm39)	D532V	probably benign	Het
Ifnar2	G	A	16: 91,184,975 (GRCm39)	R122H	possibly damaging	Het
Ift70b	A	T	2: 75,768,467 (GRCm39)	Y95*	probably null	Het
Ipo11	A	G	13: 107,061,556 (GRCm39)	W35R	probably damaging	Het
Iqgap3	G	A	3: 88,017,361 (GRCm39)	R1115Q	possibly damaging	Het
Kifc5b	A	G	17: 27,142,239 (GRCm39)	E239G	probably damaging	Het
Map3k7	A	T	4: 32,019,519 (GRCm39)	E553D	probably damaging	Het
Mdh1	G	T	11: 21,512,926 (GRCm39)	S146*	probably null	Het
Muc16	C	A	9: 18,548,494 (GRCm39)	W5933L	probably benign	Het
Myo16	C	A	8: 10,620,401 (GRCm39)	P1651T	probably damaging	Het
Naip5	C	G	13: 100,367,269 (GRCm39)	A276P	probably damaging	Het
Noxo1	G	T	17: 24,915,386 (GRCm39)		probably benign	Het
Or4k49	T	A	2: 111,495,230 (GRCm39)	Y220N	probably benign	Het
Pcdhgb6	A	T	18: 37,876,054 (GRCm39)	N254I	possibly damaging	Het
Peli3	A	T	19: 4,991,850 (GRCm39)	C30*	probably null	Het
Plb1	T	A	5: 32,512,731 (GRCm39)	M1363K	probably damaging	Het
Ppp4r4	G	T	12: 103,550,346 (GRCm39)	E257*	probably null	Het
Rbm20	T	G	19: 53,840,060 (GRCm39)	S1016R	probably benign	Het
Rcn1	A	T	2: 105,225,026 (GRCm39)	L143Q	possibly damaging	Het
Retreg1	G	A	15: 25,940,985 (GRCm39)	G3D	unknown	Het
Rrm2	A	G	12: 24,758,956 (GRCm39)	N65D	probably benign	Het
Samhd1	G	T	2: 156,965,219 (GRCm39)	H199N	probably damaging	Het
Slain2	T	A	5: 73,114,969 (GRCm39)	L400*	probably null	Het
Slc26a7	A	T	4: 14,522,862 (GRCm39)	M486K	probably benign	Het
Slc30a4	A	T	2: 122,536,456 (GRCm39)	Y133N	probably damaging	Het
Spef2	A	T	15: 9,601,945 (GRCm39)	F1439Y	unknown	Het
Srpra	T	C	9: 35,122,670 (GRCm39)	V29A	possibly damaging	Het
St3gal1	T	C	15: 66,981,499 (GRCm39)	T226A	possibly damaging	Het
Tas2r136	T	A	6: 132,754,813 (GRCm39)	I105F	probably benign	Het
Tmem208	A	G	8: 106,061,506 (GRCm39)	*177W	probably null	Het
Utrn	T	A	10: 12,610,921 (GRCm39)	N478I	probably damaging	Het
Zbtb37	T	C	1: 160,859,432 (GRCm39)	Y291C	probably damaging	Het
Zc3h3	T	G	15: 75,709,459 (GRCm39)	H470P	probably benign	Het
Zfp40	A	T	17: 23,395,863 (GRCm39)	Y241*	probably null	Het
Zfp457	T	C	13: 67,440,874 (GRCm39)	N567S	probably benign	Het
Zfp458	C	T	13: 67,408,217 (GRCm39)	V33M	probably damaging	Het
Zfp953	A	T	13: 67,491,478 (GRCm39)	I158N	possibly damaging	Het

Other mutations in Cyp3a13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Cyp3a13	APN	5	137,910,195 (GRCm39)	missense	probably benign	0.08
IGL01879:Cyp3a13	APN	5	137,917,265 (GRCm39)	missense	probably benign
IGL01886:Cyp3a13	APN	5	137,897,082 (GRCm39)	missense	probably damaging	1.00
IGL02048:Cyp3a13	APN	5	137,917,257 (GRCm39)	splice site	probably benign
IGL02102:Cyp3a13	APN	5	137,909,865 (GRCm39)	missense	probably benign	0.00
IGL02285:Cyp3a13	APN	5	137,908,229 (GRCm39)	missense	probably benign	0.38
IGL03213:Cyp3a13	APN	5	137,892,529 (GRCm39)	utr 3 prime	probably benign
IGL03238:Cyp3a13	APN	5	137,897,151 (GRCm39)	missense	probably damaging	0.99
G4846:Cyp3a13	UTSW	5	137,897,085 (GRCm39)	missense	possibly damaging	0.55
IGL02988:Cyp3a13	UTSW	5	137,897,272 (GRCm39)	nonsense	probably null
PIT4486001:Cyp3a13	UTSW	5	137,908,228 (GRCm39)	missense	probably benign	0.17
R0319:Cyp3a13	UTSW	5	137,897,124 (GRCm39)	missense	probably damaging	1.00
R1024:Cyp3a13	UTSW	5	137,892,626 (GRCm39)	missense	possibly damaging	0.56
R1189:Cyp3a13	UTSW	5	137,909,892 (GRCm39)	splice site	probably null
R1464:Cyp3a13	UTSW	5	137,903,827 (GRCm39)	missense	possibly damaging	0.83
R1464:Cyp3a13	UTSW	5	137,903,827 (GRCm39)	missense	possibly damaging	0.83
R1501:Cyp3a13	UTSW	5	137,909,892 (GRCm39)	splice site	probably null
R1838:Cyp3a13	UTSW	5	137,909,894 (GRCm39)	splice site	probably null
R1956:Cyp3a13	UTSW	5	137,908,204 (GRCm39)	missense	probably benign	0.02
R1981:Cyp3a13	UTSW	5	137,910,118 (GRCm39)	missense	probably damaging	0.97
R2048:Cyp3a13	UTSW	5	137,908,237 (GRCm39)	missense	probably damaging	0.98
R2140:Cyp3a13	UTSW	5	137,919,716 (GRCm39)	missense	possibly damaging	0.93
R4844:Cyp3a13	UTSW	5	137,915,813 (GRCm39)	missense	probably benign
R5001:Cyp3a13	UTSW	5	137,897,178 (GRCm39)	missense	probably benign	0.00
R5062:Cyp3a13	UTSW	5	137,897,161 (GRCm39)	missense	possibly damaging	0.52
R5420:Cyp3a13	UTSW	5	137,897,243 (GRCm39)	missense	probably damaging	1.00
R5855:Cyp3a13	UTSW	5	137,917,318 (GRCm39)	missense	probably damaging	0.98
R6089:Cyp3a13	UTSW	5	137,908,215 (GRCm39)	missense	probably benign	0.07
R6927:Cyp3a13	UTSW	5	137,893,546 (GRCm39)	missense	probably damaging	1.00
R6978:Cyp3a13	UTSW	5	137,903,801 (GRCm39)	missense	probably benign	0.01
R7283:Cyp3a13	UTSW	5	137,903,818 (GRCm39)	missense	probably benign	0.01
R7571:Cyp3a13	UTSW	5	137,897,125 (GRCm39)	missense	possibly damaging	0.93
R7781:Cyp3a13	UTSW	5	137,897,136 (GRCm39)	missense	possibly damaging	0.94
R8281:Cyp3a13	UTSW	5	137,892,559 (GRCm39)	missense	probably benign	0.01
R8987:Cyp3a13	UTSW	5	137,909,849 (GRCm39)	missense	probably benign
R9154:Cyp3a13	UTSW	5	137,919,758 (GRCm39)	missense	probably benign	0.00
RF007:Cyp3a13	UTSW	5	137,892,525 (GRCm39)	makesense	probably null
RF020:Cyp3a13	UTSW	5	137,892,525 (GRCm39)	makesense	probably null
X0024:Cyp3a13	UTSW	5	137,898,653 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTAATTATGGAGTCTCCTAGCAC -3'
(R):5'- TAAGGTGAGAGATCACAGCCCC -3'

Sequencing Primer
(F):5'- TCCCACCAAAGGATTGTGTG -3'
(R):5'- GGTGAGAGATCACAGCCCCTTTAC -3'

Posted On

2022-11-14