Mutagenetix > Incidental Mutation

Incidental Mutation 'R5062:Cyp3a13'

386673

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

042652-MU

Accession Numbers

Genbank: NM_007819

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5062 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137892932-137921619 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 137898899 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 384 (N384K)

Ref Sequence

ENSEMBL: ENSMUSP00000031741 (fasta)

Gene Model

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

AlphaFold

Q64464

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031741
AA Change: N384K

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000031741
Gene: ENSMUSG00000029727
AA Change: N384K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121449

Meta Mutation Damage Score

0.4809

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.1%

Validation Efficiency

100% (79/79)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,177,066 (GRCm38)	I1593N	probably benign	Het
Akr1b10	G	T	6: 34,392,106 (GRCm38)	K173N	probably damaging	Het
Artn	A	T	4: 117,927,676 (GRCm38)	L3Q	probably damaging	Het
Asxl3	T	A	18: 22,522,718 (GRCm38)	S1262T	possibly damaging	Het
Atp6v0a4	A	T	6: 38,074,183 (GRCm38)	M420K	probably benign	Het
Bcam	T	A	7: 19,760,101 (GRCm38)	T422S	possibly damaging	Het
Casp2	C	T	6: 42,269,272 (GRCm38)		probably benign	Het
Ccdc137	A	G	11: 120,462,515 (GRCm38)		probably benign	Het
Cd177	C	A	7: 24,744,316 (GRCm38)	A786S	probably benign	Het
Cdca4	T	C	12: 112,821,863 (GRCm38)	N82D	probably benign	Het
Clu	A	C	14: 65,979,728 (GRCm38)	T337P	probably damaging	Het
Col6a3	A	C	1: 90,779,352 (GRCm38)	I2013S	unknown	Het
Cpne9	T	A	6: 113,304,488 (GRCm38)	M510K	probably damaging	Het
Fam186a	A	C	15: 99,944,646 (GRCm38)	I1239S	possibly damaging	Het
Fryl	T	C	5: 73,075,893 (GRCm38)	E413G	possibly damaging	Het
Fscn2	A	C	11: 120,366,749 (GRCm38)	Y312S	probably damaging	Het
Fshr	A	T	17: 88,986,046 (GRCm38)	C401*	probably null	Het
Glyat	A	C	19: 12,650,263 (GRCm38)	Q74P	probably damaging	Het
Gm5724	A	C	6: 141,767,454 (GRCm38)	M67R	possibly damaging	Het
Gm6158	A	T	14: 24,070,090 (GRCm38)		noncoding transcript	Het
Grm7	A	G	6: 110,646,136 (GRCm38)	N90S	probably damaging	Het
Hectd1	A	T	12: 51,744,879 (GRCm38)	C2536S	probably damaging	Het
Herc3	C	T	6: 58,855,760 (GRCm38)	Q137*	probably null	Het
Kctd3	A	C	1: 188,995,693 (GRCm38)		probably benign	Het
Klhl30	A	G	1: 91,355,578 (GRCm38)	T301A	probably benign	Het
Klra9	T	C	6: 130,179,109 (GRCm38)	K228E	possibly damaging	Het
Lamc3	A	T	2: 31,905,667 (GRCm38)	T355S	possibly damaging	Het
Lcmt1	A	C	7: 123,410,830 (GRCm38)		probably null	Het
Limch1	C	T	5: 66,969,235 (GRCm38)	P60S	probably damaging	Het
Lrfn2	A	G	17: 49,070,500 (GRCm38)	D203G	probably damaging	Het
Mc5r	T	C	18: 68,339,281 (GRCm38)	L237P	probably damaging	Het
Mknk2	G	A	10: 80,671,769 (GRCm38)	R58W	probably damaging	Het
Mrgpra2b	T	C	7: 47,502,928 (GRCm38)		probably benign	Het
Mroh2a	GCCC	GC	1: 88,232,257 (GRCm38)		probably null	Het
Nae1	A	T	8: 104,516,702 (GRCm38)	C395S	possibly damaging	Het
Ncoa1	A	G	12: 4,259,333 (GRCm38)	M1321T	probably damaging	Het
Neb	A	C	2: 52,280,501 (GRCm38)	F1720V	possibly damaging	Het
Nectin2	C	T	7: 19,738,273 (GRCm38)	V64I	probably benign	Het
Nisch	T	A	14: 31,172,440 (GRCm38)	T1145S	probably damaging	Het
Nlrp5	A	T	7: 23,435,910 (GRCm38)	R1009*	probably null	Het
Olfr103	A	T	17: 37,336,931 (GRCm38)	H100Q	probably damaging	Het
Olfr727	T	A	14: 50,127,437 (GRCm38)	Y287N	probably damaging	Het
Otx1	C	A	11: 21,997,037 (GRCm38)	A91S	probably damaging	Het
Pak1ip1	A	G	13: 41,008,145 (GRCm38)		probably benign	Het
Pcm1	T	C	8: 41,259,260 (GRCm38)	V189A	probably damaging	Het
Peak1	G	T	9: 56,260,289 (GRCm38)	N118K	probably damaging	Het
Phgdh	T	A	3: 98,328,339 (GRCm38)	I121F	probably damaging	Het
Pi4ka	G	T	16: 17,309,397 (GRCm38)	A1064E	probably benign	Het
Pkhd1	A	C	1: 20,585,711 (GRCm38)	C199W	probably benign	Het
Plat	A	G	8: 22,772,311 (GRCm38)	D117G	probably benign	Het
Ppp2r2b	C	A	18: 42,688,461 (GRCm38)	V211L	possibly damaging	Het
Ptgs1	A	G	2: 36,237,282 (GRCm38)	D60G	probably damaging	Het
Ryr2	T	C	13: 11,700,354 (GRCm38)	E2776G	probably damaging	Het
Sema4c	C	T	1: 36,552,978 (GRCm38)		probably null	Het
Sharpin	T	C	15: 76,347,611 (GRCm38)		probably benign	Het
Slamf6	A	G	1: 171,936,533 (GRCm38)	I164M	possibly damaging	Het
Spef1	A	G	2: 131,173,281 (GRCm38)	Y46H	probably damaging	Het
Spns1	G	A	7: 126,374,329 (GRCm38)		probably benign	Het
Supt5	C	T	7: 28,329,015 (GRCm38)		probably null	Het
Tbx5	T	A	5: 119,836,922 (GRCm38)	D3E	probably damaging	Het
Thbs1	T	C	2: 118,121,237 (GRCm38)		probably null	Het
Tmem140	G	A	6: 34,872,962 (GRCm38)	V138M	probably damaging	Het
Tmem200a	T	A	10: 25,993,915 (GRCm38)	D152V	probably damaging	Het
Tmem200b	A	G	4: 131,922,537 (GRCm38)	D256G	probably damaging	Het
Tns1	A	T	1: 73,952,864 (GRCm38)	L885Q	probably damaging	Het
Umod	G	A	7: 119,472,421 (GRCm38)	Q366*	probably null	Het
Vsir	A	G	10: 60,364,263 (GRCm38)	I208V	probably damaging	Het
Zfp646	G	A	7: 127,880,499 (GRCm38)	R616H	probably damaging	Het

Other mutations in Cyp3a13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Cyp3a13	APN	5	137,911,933 (GRCm38)	missense	probably benign	0.08
IGL01879:Cyp3a13	APN	5	137,919,003 (GRCm38)	missense	probably benign
IGL01886:Cyp3a13	APN	5	137,898,820 (GRCm38)	missense	probably damaging	1.00
IGL02048:Cyp3a13	APN	5	137,918,995 (GRCm38)	splice site	probably benign
IGL02102:Cyp3a13	APN	5	137,911,603 (GRCm38)	missense	probably benign	0.00
IGL02285:Cyp3a13	APN	5	137,909,967 (GRCm38)	missense	probably benign	0.38
IGL03213:Cyp3a13	APN	5	137,894,267 (GRCm38)	utr 3 prime	probably benign
IGL03238:Cyp3a13	APN	5	137,898,889 (GRCm38)	missense	probably damaging	0.99
G4846:Cyp3a13	UTSW	5	137,898,823 (GRCm38)	missense	possibly damaging	0.55
IGL02988:Cyp3a13	UTSW	5	137,899,010 (GRCm38)	nonsense	probably null
PIT4486001:Cyp3a13	UTSW	5	137,909,966 (GRCm38)	missense	probably benign	0.17
R0319:Cyp3a13	UTSW	5	137,898,862 (GRCm38)	missense	probably damaging	1.00
R1024:Cyp3a13	UTSW	5	137,894,364 (GRCm38)	missense	possibly damaging	0.56
R1189:Cyp3a13	UTSW	5	137,911,630 (GRCm38)	splice site	probably null
R1464:Cyp3a13	UTSW	5	137,905,565 (GRCm38)	missense	possibly damaging	0.83
R1464:Cyp3a13	UTSW	5	137,905,565 (GRCm38)	missense	possibly damaging	0.83
R1501:Cyp3a13	UTSW	5	137,911,630 (GRCm38)	splice site	probably null
R1838:Cyp3a13	UTSW	5	137,911,632 (GRCm38)	splice site	probably null
R1956:Cyp3a13	UTSW	5	137,909,942 (GRCm38)	missense	probably benign	0.02
R1981:Cyp3a13	UTSW	5	137,911,856 (GRCm38)	missense	probably damaging	0.97
R2048:Cyp3a13	UTSW	5	137,909,975 (GRCm38)	missense	probably damaging	0.98
R2140:Cyp3a13	UTSW	5	137,921,454 (GRCm38)	missense	possibly damaging	0.93
R4844:Cyp3a13	UTSW	5	137,917,551 (GRCm38)	missense	probably benign
R5001:Cyp3a13	UTSW	5	137,898,916 (GRCm38)	missense	probably benign	0.00
R5420:Cyp3a13	UTSW	5	137,898,981 (GRCm38)	missense	probably damaging	1.00
R5855:Cyp3a13	UTSW	5	137,919,056 (GRCm38)	missense	probably damaging	0.98
R6089:Cyp3a13	UTSW	5	137,909,953 (GRCm38)	missense	probably benign	0.07
R6927:Cyp3a13	UTSW	5	137,895,284 (GRCm38)	missense	probably damaging	1.00
R6978:Cyp3a13	UTSW	5	137,905,539 (GRCm38)	missense	probably benign	0.01
R7283:Cyp3a13	UTSW	5	137,905,556 (GRCm38)	missense	probably benign	0.01
R7571:Cyp3a13	UTSW	5	137,898,863 (GRCm38)	missense	possibly damaging	0.93
R7781:Cyp3a13	UTSW	5	137,898,874 (GRCm38)	missense	possibly damaging	0.94
R8281:Cyp3a13	UTSW	5	137,894,297 (GRCm38)	missense	probably benign	0.01
R8987:Cyp3a13	UTSW	5	137,911,587 (GRCm38)	missense	probably benign
R9154:Cyp3a13	UTSW	5	137,921,496 (GRCm38)	missense	probably benign	0.00
R9765:Cyp3a13	UTSW	5	137,911,621 (GRCm38)	missense	probably damaging	0.98
RF007:Cyp3a13	UTSW	5	137,894,263 (GRCm38)	makesense	probably null
RF020:Cyp3a13	UTSW	5	137,894,263 (GRCm38)	makesense	probably null
X0024:Cyp3a13	UTSW	5	137,900,391 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCTTCAGCACCAGGATACAAC -3'
(R):5'- GCTAAGGTCCTTTATCAATGTGAG -3'

Sequencing Primer
(F):5'- CACATCAAAACTGGACTAGTCTGGG -3'
(R):5'- GGGTAGTGCAATAACTTAGTTCTCC -3'

Posted On

2016-06-06