Mutagenetix > Incidental Mutation

Incidental Mutation 'R6089:Cyp3a13'

484650

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

044246-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6089 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137891194-137919881 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137908215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 211 (L211F)

Ref Sequence

ENSEMBL: ENSMUSP00000031741 (fasta)

Gene Model

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

AlphaFold

Q64464

Predicted Effect

probably benign
Transcript: ENSMUST00000031741
AA Change: L211F

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000031741
Gene: ENSMUSG00000029727
AA Change: L211F

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: 99.6%
10x: 97.8%
20x: 93.3%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	A	G	1: 125,335,132 (GRCm39)	V95A	probably damaging	Het
Ankrd40	A	T	11: 94,224,751 (GRCm39)	K53N	probably damaging	Het
Ash1l	C	T	3: 88,960,450 (GRCm39)	Q2338*	probably null	Het
Astn2	A	G	4: 65,712,810 (GRCm39)	F610S	probably damaging	Het
Baz2a	TCTCCTC	TCTC	10: 127,950,511 (GRCm39)		probably benign	Het
Btbd8	C	T	5: 107,654,895 (GRCm39)	A386V	probably damaging	Het
Calm4	A	T	13: 3,887,874 (GRCm39)		probably benign	Het
Card10	T	C	15: 78,686,614 (GRCm39)	T68A	probably benign	Het
Cars2	A	G	8: 11,580,301 (GRCm39)	M245T	probably damaging	Het
Cat	C	A	2: 103,303,296 (GRCm39)	L160F	probably null	Het
Cers5	G	T	15: 99,638,883 (GRCm39)	T144K	probably benign	Het
Defb4	A	T	8: 19,251,321 (GRCm39)	R63*	probably null	Het
Dnah14	G	T	1: 181,577,719 (GRCm39)	W3012L	probably damaging	Het
Dusp18	A	G	11: 3,847,555 (GRCm39)	T182A	probably benign	Het
Dzip1l	C	A	9: 99,524,737 (GRCm39)	T286K	possibly damaging	Het
Eif2ak3	A	T	6: 70,873,918 (GRCm39)	T944S	possibly damaging	Het
Fbn1	A	T	2: 125,163,145 (GRCm39)	I2119N	possibly damaging	Het
Gabbr2	A	G	4: 46,846,448 (GRCm39)	S154P	probably damaging	Het
Gm15440	A	T	13: 51,845,437 (GRCm39)	H107Q	unknown	Het
Grm2	G	A	9: 106,531,090 (GRCm39)	P133L	probably damaging	Het
Gsdme	A	G	6: 50,228,285 (GRCm39)	V61A	probably damaging	Het
Gtpbp1	A	G	15: 79,591,198 (GRCm39)	T23A	probably benign	Het
Helz	A	T	11: 107,485,963 (GRCm39)		probably null	Het
Herc1	A	C	9: 66,352,814 (GRCm39)	H2100P	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ifngr1	T	C	10: 19,482,048 (GRCm39)	S213P	probably benign	Het
Itgb7	T	C	15: 102,125,721 (GRCm39)	D636G	probably benign	Het
Mre11a	G	A	9: 14,730,760 (GRCm39)	D491N	probably benign	Het
Muc16	A	G	9: 18,554,548 (GRCm39)	L3915P	unknown	Het
Myh1	T	A	11: 67,092,993 (GRCm39)		probably null	Het
Myh1	T	G	11: 67,111,613 (GRCm39)		probably null	Het
Myh7b	C	T	2: 155,464,409 (GRCm39)	T608M	probably damaging	Het
Myof	T	C	19: 37,955,508 (GRCm39)	K23E	probably benign	Het
Nacad	A	G	11: 6,551,331 (GRCm39)	V620A	probably benign	Het
Pbrm1	T	C	14: 30,809,542 (GRCm39)	Y1121H	probably damaging	Het
Pcdha9	T	C	18: 37,131,551 (GRCm39)	F207L	probably benign	Het
Pcdhb10	T	C	18: 37,546,679 (GRCm39)	V585A	possibly damaging	Het
Pigg	A	T	5: 108,489,788 (GRCm39)	M798L	probably benign	Het
Poc5	G	T	13: 96,533,179 (GRCm39)	M102I	probably damaging	Het
Ppp2r3d	T	A	9: 101,088,835 (GRCm39)	Q496L	probably benign	Het
Ptprf	A	G	4: 118,068,281 (GRCm39)	Y1752H	probably damaging	Het
Ptpru	G	C	4: 131,499,941 (GRCm39)	S1244R	possibly damaging	Het
Rnf213	A	G	11: 119,307,385 (GRCm39)	K682E	probably benign	Het
Rtp3	T	C	9: 110,816,041 (GRCm39)	D170G	probably benign	Het
Sall4	T	C	2: 168,597,406 (GRCm39)	D478G	possibly damaging	Het
Scai	A	T	2: 38,973,566 (GRCm39)	Y58*	probably null	Het
Simc1	G	A	13: 54,676,303 (GRCm39)	V1007M	probably benign	Het
Tcf20	G	T	15: 82,737,409 (GRCm39)	D1347E	probably benign	Het
Tdo2	T	C	3: 81,870,035 (GRCm39)	Y279C	probably damaging	Het
Trdn	C	T	10: 33,340,571 (GRCm39)	P602S	probably benign	Het
Txndc5	A	T	13: 38,707,392 (GRCm39)	M1K	probably null	Het
Ubr2	A	C	17: 47,293,218 (GRCm39)	M356R	possibly damaging	Het
Uqcrc2	A	T	7: 120,253,232 (GRCm39)	D332V	probably damaging	Het
Usp48	T	C	4: 137,333,129 (GRCm39)	F108L	probably damaging	Het
Vill	A	G	9: 118,886,867 (GRCm39)	N4S	probably benign	Het
Vmn1r11	T	C	6: 57,114,645 (GRCm39)	V103A	possibly damaging	Het
Vmn2r98	A	G	17: 19,286,336 (GRCm39)	D278G	probably benign	Het
Vps35l	T	G	7: 118,345,658 (GRCm39)	S59A	possibly damaging	Het
Wfdc15a	A	T	2: 164,041,586 (GRCm39)	L79*	probably null	Het
Xxylt1	C	T	16: 30,899,799 (GRCm39)	V119M	probably damaging	Het
Zfp26	G	T	9: 20,348,989 (GRCm39)	A525D	probably damaging	Het
Zgrf1	G	A	3: 127,389,642 (GRCm39)	G396D	probably damaging	Het
Zkscan16	A	G	4: 58,948,889 (GRCm39)	D148G	possibly damaging	Het
Zscan26	G	T	13: 21,632,499 (GRCm39)	S77R	probably 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
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
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'- ACACCCACAGTCCCTTCAGT -3'
(R):5'- TCATACTCTGTCTATCTTAGCTAGACC -3'

Sequencing Primer
(F):5'- ATGTTCCACAGCTAGCAGTG -3'
(R):5'- CTGTCTATCTTAGCTAGACCAAGAAG -3'

Posted On

2017-08-16