Mutagenetix > Incidental Mutation

Incidental Mutation 'R7781:Cyp3a13'

599229

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

045837-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7781 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137891194-137919881 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 137897136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 393 (V393M)

Ref Sequence

ENSEMBL: ENSMUSP00000031741 (fasta)

Gene Model

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

AlphaFold

Q64464

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031741
AA Change: V393M

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031741
Gene: ENSMUSG00000029727
AA Change: V393M

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700064H15Rik	G	A	3: 19,682,706 (GRCm39)	P23S	unknown	Het
Abcc6	C	T	7: 45,655,030 (GRCm39)	R487Q	probably damaging	Het
Abl1	A	T	2: 31,680,709 (GRCm39)	T334S	probably damaging	Het
Adam6b	T	C	12: 113,454,962 (GRCm39)	F593S	probably damaging	Het
Alx1	A	T	10: 102,845,053 (GRCm39)	M326K	probably damaging	Het
Ankhd1	A	T	18: 36,758,258 (GRCm39)	D984V	probably damaging	Het
Asb15	A	G	6: 24,562,644 (GRCm39)	N202S	probably benign	Het
Ate1	A	T	7: 130,121,157 (GRCm39)	V12E	probably damaging	Het
Atl2	A	T	17: 80,167,260 (GRCm39)	Y254N	probably damaging	Het
Atp13a5	A	G	16: 29,116,226 (GRCm39)	M630T	probably benign	Het
Atp5po	A	T	16: 91,723,417 (GRCm39)	I124N	possibly damaging	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Bicdl1	T	C	5: 115,799,546 (GRCm39)	E181G	probably damaging	Het
Bnipl	C	A	3: 95,151,486 (GRCm39)	W272L	probably damaging	Het
Catsperd	A	T	17: 56,971,072 (GRCm39)	H712L	probably benign	Het
Cilp2	T	C	8: 70,334,997 (GRCm39)	D667G	possibly damaging	Het
Cntn4	A	C	6: 106,500,575 (GRCm39)	K351Q	probably damaging	Het
Coq7	A	T	7: 118,125,111 (GRCm39)	I171N	probably damaging	Het
Csf2rb	T	A	15: 78,228,771 (GRCm39)	F371I	probably benign	Het
Dennd2a	A	G	6: 39,470,000 (GRCm39)	V564A	probably damaging	Het
Ear14	T	C	14: 51,441,468 (GRCm39)	L108P	probably damaging	Het
Egflam	C	A	15: 7,283,227 (GRCm39)	V277F	probably null	Het
Epb42	T	G	2: 120,864,916 (GRCm39)	K58N	probably benign	Het
Faap100	T	C	11: 120,265,089 (GRCm39)	M596V	probably benign	Het
Fbxw15	T	A	9: 109,386,330 (GRCm39)	T270S	possibly damaging	Het
Gabpb1	C	T	2: 126,481,120 (GRCm39)	C342Y	possibly damaging	Het
Gls	A	T	1: 52,251,492 (GRCm39)	C288*	probably null	Het
Grm8	G	T	6: 27,285,786 (GRCm39)	D875E	probably benign	Het
Hdac4	C	A	1: 91,903,387 (GRCm39)	R514L	probably benign	Het
Hps4	T	A	5: 112,518,388 (GRCm39)	N460K	probably benign	Het
Inpp5d	T	C	1: 87,627,394 (GRCm39)	F565S	probably damaging	Het
Kcnh5	C	A	12: 75,023,455 (GRCm39)	V538F	probably damaging	Het
Kcp	T	C	6: 29,497,764 (GRCm39)	N499S	probably damaging	Het
Klk15	T	C	7: 43,588,980 (GRCm39)	L244S	probably benign	Het
Lamp3	A	T	16: 19,518,440 (GRCm39)	S266T	possibly damaging	Het
Lemd3	A	G	10: 120,761,678 (GRCm39)	F863L	probably damaging	Het
Mga	T	A	2: 119,747,838 (GRCm39)	V663D	probably damaging	Het
Naa15	A	G	3: 51,378,904 (GRCm39)		probably null	Het
Ndrg3	C	A	2: 156,770,733 (GRCm39)	G352*	probably null	Het
Nr2f6	G	T	8: 71,828,595 (GRCm39)	N233K	possibly damaging	Het
Or4a79	A	G	2: 89,551,879 (GRCm39)	F192S	probably benign	Het
Plxnb2	T	A	15: 89,041,225 (GRCm39)	M1774L	possibly damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rpl23a	G	A	11: 78,073,654 (GRCm39)	R62W	probably benign	Het
Rubcnl	A	G	14: 75,269,530 (GRCm39)	R63G	probably damaging	Het
Ryr1	T	C	7: 28,767,055 (GRCm39)	D2976G	probably damaging	Het
Siglec1	A	G	2: 130,923,258 (GRCm39)	Y496H	probably damaging	Het
Sipa1l2	A	G	8: 126,218,566 (GRCm39)	V257A	possibly damaging	Het
Slc24a4	T	C	12: 102,201,112 (GRCm39)		probably null	Het
Slc4a1ap	T	C	5: 31,684,822 (GRCm39)	S153P	probably damaging	Het
Slc4a4	A	T	5: 89,376,791 (GRCm39)	E1006V	possibly damaging	Het
Svep1	T	G	4: 58,069,251 (GRCm39)	E2845A	possibly damaging	Het
Tlr1	T	C	5: 65,084,079 (GRCm39)	N166S	possibly damaging	Het
Tmem231	C	T	8: 112,644,922 (GRCm39)		probably null	Het
Tsc2	C	A	17: 24,827,089 (GRCm39)	L873F	possibly damaging	Het
Unc13b	T	G	4: 43,259,546 (GRCm39)	S1403A	possibly damaging	Het
Vmn1r7	A	G	6: 57,001,553 (GRCm39)	F236L	probably benign	Het
Vmn2r111	T	C	17: 22,789,714 (GRCm39)	S431G	probably benign	Het
Wdr7	A	T	18: 63,910,860 (GRCm39)	K751*	probably null	Het
Wdr90	C	T	17: 26,065,300 (GRCm39)	R1652Q	probably damaging	Het
Zcchc2	T	C	1: 105,931,895 (GRCm39)	Y366H	probably damaging	Het
Zfp1005	A	T	2: 150,109,577 (GRCm39)	H89L	possibly damaging	Het
Zfp607a	C	T	7: 27,565,000 (GRCm39)	R56C	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
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
R9765:Cyp3a13	UTSW	5	137,909,883 (GRCm39)	missense	probably damaging	0.98
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'- AGAGCACTGTGATAGATGCTACTC -3'
(R):5'- AAAATCTCTGTCTCTCTTTGCAGG -3'

Sequencing Primer
(F):5'- GCACTGTGATAGATGCTACTCTTATC -3'
(R):5'- GCACCTGCCACCTATGATAC -3'

Posted On

2019-11-26