Mutagenetix > Incidental Mutation

Incidental Mutation 'R7114:Cyp3a11'

551674

Institutional Source

Beutler Lab

Gene Symbol

Cyp3a11

Ensembl Gene

ENSMUSG00000056035

Gene Name

cytochrome P450, family 3, subfamily a, polypeptide 11

Synonyms

Cyp3a, Pcn, IIIAm1

MMRRC Submission

045244-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7114 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

145791417-145816664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 145795593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 453 (M453L)

Ref Sequence

ENSEMBL: ENSMUSP00000037665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035918]

AlphaFold

Q64459

Predicted Effect

probably benign
Transcript: ENSMUST00000035918
AA Change: M453L

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000037665
Gene: ENSMUSG00000056035
AA Change: M453L

Domain	Start	End	E-Value	Type
Pfam:p450	38	494	2.4e-136	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 119,900,445 (GRCm39)	A1291T	probably benign	Het
Anks1b	G	A	10: 90,143,560 (GRCm39)	R523Q	probably damaging	Het
Arhgap12	T	A	18: 6,028,056 (GRCm39)	I690F	probably damaging	Het
Caln1	T	C	5: 130,868,124 (GRCm39)	V220A	possibly damaging	Het
Cd79b	T	A	11: 106,202,713 (GRCm39)	T263S	probably damaging	Het
Cep290	A	T	10: 100,379,220 (GRCm39)	K67N	probably damaging	Het
Col19a1	T	C	1: 24,377,017 (GRCm39)	T443A	possibly damaging	Het
Col25a1	A	G	3: 130,389,324 (GRCm39)	I636V	probably benign	Het
Col9a3	C	T	2: 180,245,590 (GRCm39)	P154S	unknown	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Eno1b	T	C	18: 48,180,560 (GRCm39)	V246A	possibly damaging	Het
Eogt	T	C	6: 97,092,965 (GRCm39)	Y404C	probably damaging	Het
Ephx3	T	A	17: 32,404,006 (GRCm39)	E380V	possibly damaging	Het
Fancl	T	C	11: 26,357,615 (GRCm39)	L114P	probably damaging	Het
Flad1	C	T	3: 89,314,837 (GRCm39)	G287S	probably benign	Het
Gcm1	G	T	9: 77,967,061 (GRCm39)	K93N	probably damaging	Het
Golga3	T	A	5: 110,350,578 (GRCm39)	D704E	probably benign	Het
Grb14	A	C	2: 64,747,197 (GRCm39)	I451S	probably damaging	Het
Gtf3c3	T	C	1: 54,462,666 (GRCm39)	N366D	probably benign	Het
Hecw1	A	T	13: 14,486,356 (GRCm39)	H376Q	probably benign	Het
Helb	A	T	10: 119,941,161 (GRCm39)	V509E	probably benign	Het
Hephl1	C	T	9: 14,981,111 (GRCm39)	E774K	probably damaging	Het
Hkdc1	T	C	10: 62,229,622 (GRCm39)	E685G	probably damaging	Het
Igfn1	T	C	1: 135,894,519 (GRCm39)	T2016A	probably benign	Het
Igkv5-43	T	G	6: 69,800,515 (GRCm39)	Q57H	probably damaging	Het
Lamc3	T	A	2: 31,820,657 (GRCm39)	V1224E	probably damaging	Het
Lgals3bp	C	T	11: 118,284,309 (GRCm39)	W423*	probably null	Het
Mcm9	G	A	10: 53,414,669 (GRCm39)	T137I	possibly damaging	Het
Mdga1	C	A	17: 30,061,816 (GRCm39)		probably null	Het
Mocos	C	T	18: 24,799,572 (GRCm39)	P269S	probably damaging	Het
Naa40	A	G	19: 7,207,322 (GRCm39)	V134A	probably damaging	Het
Neb	G	A	2: 52,082,571 (GRCm39)	L5680F	probably damaging	Het
Nedd9	A	G	13: 41,492,099 (GRCm39)	V137A	probably benign	Het
Nup133	T	C	8: 124,642,112 (GRCm39)	I784V	probably benign	Het
Nup214	T	C	2: 31,915,256 (GRCm39)	S1147P	possibly damaging	Het
Or10x4	A	T	1: 174,218,805 (GRCm39)	M57L	probably damaging	Het
Or8g28	G	T	9: 39,169,897 (GRCm39)	Q24K	possibly damaging	Het
Plcb4	T	A	2: 135,824,043 (GRCm39)		probably null	Het
Pomt1	C	T	2: 32,143,848 (GRCm39)	T671I	probably benign	Het
Pomt2	G	T	12: 87,157,150 (GRCm39)	P723H	probably damaging	Het
Prpf8	T	A	11: 75,394,181 (GRCm39)	Y1741*	probably null	Het
Ptprs	C	G	17: 56,758,697 (GRCm39)	V175L	probably benign	Het
Slc36a4	T	C	9: 15,633,250 (GRCm39)	F95L	probably benign	Het
Smn1	C	T	13: 100,267,648 (GRCm39)	P225S	probably benign	Het
Snrpa	A	T	7: 26,891,174 (GRCm39)	I99N	probably benign	Het
Tgm5	G	T	2: 120,878,977 (GRCm39)	Y588*	probably null	Het
Tmeff2	T	A	1: 51,224,404 (GRCm39)		probably null	Het
Tmem120b	T	C	5: 123,254,741 (GRCm39)	F314S	probably damaging	Het
Trim43b	C	T	9: 88,967,661 (GRCm39)	R325H	probably benign	Het
Vmn1r26	C	T	6: 57,985,755 (GRCm39)	A145T	probably benign	Het
Wdfy4	T	C	14: 32,693,531 (GRCm39)		probably null	Het
Wnt5a	C	A	14: 28,244,713 (GRCm39)	T320K	probably damaging	Het
Wrn	AGCAGGTAATACATACCG	AG	8: 33,775,149 (GRCm39)		probably null	Het
Zfp398	T	C	6: 47,842,910 (GRCm39)	S321P	probably benign	Het
Zfp959	T	A	17: 56,205,501 (GRCm39)	C513S	possibly damaging	Het
Zfr2	A	G	10: 81,080,559 (GRCm39)	D411G	probably damaging	Het
Zkscan5	T	A	5: 145,147,988 (GRCm39)		probably benign	Het

Other mutations in Cyp3a11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Cyp3a11	APN	5	145,799,275 (GRCm39)	missense	probably damaging	1.00
IGL01316:Cyp3a11	APN	5	145,791,961 (GRCm39)	missense	possibly damaging	0.78
IGL01348:Cyp3a11	APN	5	145,805,817 (GRCm39)	missense	possibly damaging	0.80
IGL01591:Cyp3a11	APN	5	145,812,291 (GRCm39)	splice site	probably benign
IGL01665:Cyp3a11	APN	5	145,805,475 (GRCm39)	missense	probably benign	0.00
IGL02203:Cyp3a11	APN	5	145,805,976 (GRCm39)	missense	probably damaging	1.00
IGL02894:Cyp3a11	APN	5	145,805,836 (GRCm39)	nonsense	probably null
IGL03201:Cyp3a11	APN	5	145,797,189 (GRCm39)	missense	possibly damaging	0.94
IGL03342:Cyp3a11	APN	5	145,791,927 (GRCm39)	missense	probably damaging	0.96
PIT4486001:Cyp3a11	UTSW	5	145,797,302 (GRCm39)	missense	probably damaging	0.99
R0347:Cyp3a11	UTSW	5	145,802,735 (GRCm39)	missense	possibly damaging	0.93
R0376:Cyp3a11	UTSW	5	145,799,262 (GRCm39)	nonsense	probably null
R0378:Cyp3a11	UTSW	5	145,805,417 (GRCm39)	missense	probably benign	0.43
R0448:Cyp3a11	UTSW	5	145,799,204 (GRCm39)	missense	probably benign	0.00
R0567:Cyp3a11	UTSW	5	145,805,959 (GRCm39)	missense	probably damaging	1.00
R0968:Cyp3a11	UTSW	5	145,799,324 (GRCm39)	splice site	probably benign
R1292:Cyp3a11	UTSW	5	145,802,804 (GRCm39)	missense	probably benign	0.04
R1400:Cyp3a11	UTSW	5	145,799,299 (GRCm39)	missense	probably damaging	0.98
R1478:Cyp3a11	UTSW	5	145,795,581 (GRCm39)	missense	probably benign	0.01
R1520:Cyp3a11	UTSW	5	145,799,263 (GRCm39)	missense	probably damaging	1.00
R1716:Cyp3a11	UTSW	5	145,805,776 (GRCm39)	missense	probably benign
R2060:Cyp3a11	UTSW	5	145,791,891 (GRCm39)	missense	probably benign	0.00
R2076:Cyp3a11	UTSW	5	145,816,576 (GRCm39)	missense	probably benign
R2227:Cyp3a11	UTSW	5	145,805,357 (GRCm39)	missense	possibly damaging	0.90
R3725:Cyp3a11	UTSW	5	145,802,810 (GRCm39)	missense	probably benign	0.02
R4222:Cyp3a11	UTSW	5	145,797,276 (GRCm39)	missense	probably damaging	0.99
R4256:Cyp3a11	UTSW	5	145,806,005 (GRCm39)	missense	probably benign	0.04
R4294:Cyp3a11	UTSW	5	145,806,005 (GRCm39)	missense	probably benign	0.04
R4852:Cyp3a11	UTSW	5	145,797,305 (GRCm39)	missense	probably damaging	1.00
R5229:Cyp3a11	UTSW	5	145,791,945 (GRCm39)	missense	probably benign	0.00
R5285:Cyp3a11	UTSW	5	145,791,893 (GRCm39)	missense	probably benign	0.00
R5590:Cyp3a11	UTSW	5	145,802,787 (GRCm39)	missense	probably benign	0.00
R5703:Cyp3a11	UTSW	5	145,797,183 (GRCm39)	missense	probably benign
R5786:Cyp3a11	UTSW	5	145,799,284 (GRCm39)	missense	possibly damaging	0.47
R6291:Cyp3a11	UTSW	5	145,799,237 (GRCm39)	missense	possibly damaging	0.89
R6405:Cyp3a11	UTSW	5	145,799,230 (GRCm39)	missense	probably damaging	0.96
R6892:Cyp3a11	UTSW	5	145,797,258 (GRCm39)	missense	probably damaging	0.98
R7243:Cyp3a11	UTSW	5	145,795,613 (GRCm39)	missense	probably damaging	0.96
R7438:Cyp3a11	UTSW	5	145,802,710 (GRCm39)	missense	probably benign	0.39
R7611:Cyp3a11	UTSW	5	145,797,191 (GRCm39)	missense	probably benign	0.25
R8346:Cyp3a11	UTSW	5	145,795,612 (GRCm39)	missense	probably damaging	1.00
R8371:Cyp3a11	UTSW	5	145,805,438 (GRCm39)	missense	possibly damaging	0.92
R8895:Cyp3a11	UTSW	5	145,797,330 (GRCm39)	missense	probably benign
R9043:Cyp3a11	UTSW	5	145,805,995 (GRCm39)	missense	probably benign	0.02
R9300:Cyp3a11	UTSW	5	145,799,164 (GRCm39)	missense	possibly damaging	0.60
R9404:Cyp3a11	UTSW	5	145,799,258 (GRCm39)	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- AGGCTCCTTAGGTAACACAAG -3'
(R):5'- TGTTACTGGATAGATGCCAAGAG -3'

Sequencing Primer
(F):5'- CAGTTGAAAAAGCCTCACA -3'
(R):5'- GAGGAAACTTCACATGTGCAGCTC -3'

Posted On

2019-05-15