Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02203:Cyp3a11'

284384

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp3a11

Ensembl Gene

ENSMUSG00000056035

Gene Name

cytochrome P450, family 3, subfamily a, polypeptide 11

Synonyms

IIIAm1, Cyp3a, Pcn

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02203

Quality Score

Status

Chromosome

Chromosomal Location

145854426-145879964 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 145869166 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 130 (R130S)

Ref Sequence

ENSEMBL: ENSMUSP00000037665 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000035918
AA Change: R130S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037665
Gene: ENSMUSG00000056035
AA Change: R130S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199857

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	C	3: 122,179,808	D1095A	probably benign	Het
Acmsd	T	C	1: 127,738,605		probably benign	Het
Ap5m1	G	A	14: 49,080,258	G324D	probably damaging	Het
Api5	T	G	2: 94,425,074	N252T	probably benign	Het
Arhgap45	T	A	10: 80,027,553	C743*	probably null	Het
Clpb	A	G	7: 101,779,337	T435A	probably damaging	Het
Csmd3	C	T	15: 47,849,677		probably null	Het
Dennd4c	A	G	4: 86,802,936	T612A	probably benign	Het
Eng	A	G	2: 32,671,486	I170V	probably benign	Het
Fam69a	A	G	5: 107,911,781	L57S	probably benign	Het
Gfra2	T	A	14: 70,967,084	M74K	possibly damaging	Het
Gpr137c	A	G	14: 45,277,487	T268A	possibly damaging	Het
Gramd3	T	C	18: 56,478,954		probably null	Het
Il13ra2	A	G	X: 147,383,673	L367P	possibly damaging	Het
Insr	T	C	8: 3,155,817	H1324R	probably benign	Het
Lgi3	A	G	14: 70,534,518	E215G	possibly damaging	Het
Mst1r	A	G	9: 107,913,149	T654A	possibly damaging	Het
Mst1r	A	G	9: 107,907,869	Y242C	probably damaging	Het
Myo16	A	T	8: 10,570,132	Q1561L	possibly damaging	Het
Obscn	A	C	11: 59,082,308	M2222R	probably damaging	Het
Olfr1020	T	G	2: 85,850,088	F212C	probably damaging	Het
Olfr1337	A	T	4: 118,782,429	V52D	possibly damaging	Het
Olfr62	A	T	4: 118,666,182	I222F	probably benign	Het
Olfr705	A	G	7: 106,714,630	I17T	probably benign	Het
Olfr914	A	G	9: 38,607,423		probably benign	Het
Plch1	G	A	3: 63,698,739	P1239L	possibly damaging	Het
Ptprm	A	T	17: 66,953,123	I499K	probably damaging	Het
Rabep2	G	T	7: 126,440,394	R331L	possibly damaging	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Sema7a	A	G	9: 57,957,606	T397A	probably benign	Het
Sftpc	A	C	14: 70,521,869	M124R	probably damaging	Het
Slc25a38	A	G	9: 120,120,812	Y198C	probably damaging	Het
Sppl2a	A	T	2: 126,904,941	M489K	possibly damaging	Het
Swt1	T	A	1: 151,370,626	K849N	probably benign	Het
Ttc3	T	A	16: 94,418,598		probably benign	Het
Vmn2r63	A	G	7: 42,904,008	V608A	probably benign	Het
Vwf	A	G	6: 125,642,406	Y1349C	probably damaging	Het
Ybx3	A	G	6: 131,368,408	V265A	probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Cyp3a11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Cyp3a11	APN	5	145862465	missense	probably damaging	1.00
IGL01316:Cyp3a11	APN	5	145855151	missense	possibly damaging	0.78
IGL01348:Cyp3a11	APN	5	145869007	missense	possibly damaging	0.80
IGL01591:Cyp3a11	APN	5	145875481	splice site	probably benign
IGL01665:Cyp3a11	APN	5	145868665	missense	probably benign	0.00
IGL02894:Cyp3a11	APN	5	145869026	nonsense	probably null
IGL03201:Cyp3a11	APN	5	145860379	missense	possibly damaging	0.94
IGL03342:Cyp3a11	APN	5	145855117	missense	probably damaging	0.96
PIT4486001:Cyp3a11	UTSW	5	145860492	missense	probably damaging	0.99
R0347:Cyp3a11	UTSW	5	145865925	missense	possibly damaging	0.93
R0376:Cyp3a11	UTSW	5	145862452	nonsense	probably null
R0378:Cyp3a11	UTSW	5	145868607	missense	probably benign	0.43
R0448:Cyp3a11	UTSW	5	145862394	missense	probably benign	0.00
R0567:Cyp3a11	UTSW	5	145869149	missense	probably damaging	1.00
R0968:Cyp3a11	UTSW	5	145862514	splice site	probably benign
R1292:Cyp3a11	UTSW	5	145865994	missense	probably benign	0.04
R1400:Cyp3a11	UTSW	5	145862489	missense	probably damaging	0.98
R1478:Cyp3a11	UTSW	5	145858771	missense	probably benign	0.01
R1520:Cyp3a11	UTSW	5	145862453	missense	probably damaging	1.00
R1716:Cyp3a11	UTSW	5	145868966	missense	probably benign
R2060:Cyp3a11	UTSW	5	145855081	missense	probably benign	0.00
R2076:Cyp3a11	UTSW	5	145879766	missense	probably benign
R2227:Cyp3a11	UTSW	5	145868547	missense	possibly damaging	0.90
R3725:Cyp3a11	UTSW	5	145866000	missense	probably benign	0.02
R4222:Cyp3a11	UTSW	5	145860466	missense	probably damaging	0.99
R4256:Cyp3a11	UTSW	5	145869195	missense	probably benign	0.04
R4294:Cyp3a11	UTSW	5	145869195	missense	probably benign	0.04
R4852:Cyp3a11	UTSW	5	145860495	missense	probably damaging	1.00
R5229:Cyp3a11	UTSW	5	145855135	missense	probably benign	0.00
R5285:Cyp3a11	UTSW	5	145855083	missense	probably benign	0.00
R5590:Cyp3a11	UTSW	5	145865977	missense	probably benign	0.00
R5703:Cyp3a11	UTSW	5	145860373	missense	probably benign
R5786:Cyp3a11	UTSW	5	145862474	missense	possibly damaging	0.47
R6291:Cyp3a11	UTSW	5	145862427	missense	possibly damaging	0.89
R6405:Cyp3a11	UTSW	5	145862420	missense	probably damaging	0.96
R6892:Cyp3a11	UTSW	5	145860448	missense	probably damaging	0.98
R7114:Cyp3a11	UTSW	5	145858783	missense	probably benign	0.16
R7243:Cyp3a11	UTSW	5	145858803	missense	probably damaging	0.96
R7438:Cyp3a11	UTSW	5	145865900	missense	probably benign	0.39
R7611:Cyp3a11	UTSW	5	145860381	missense	probably benign	0.25
R8346:Cyp3a11	UTSW	5	145858802	missense	probably damaging	1.00
R8371:Cyp3a11	UTSW	5	145868628	missense	possibly damaging	0.92

Posted On

2015-04-16