Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02225:Cyp4a32'

285294

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp4a32

Ensembl Gene

ENSMUSG00000063929

Gene Name

cytochrome P450, family 4, subfamily a, polypeptide 32

Synonyms

OTTMUSG00000008689

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

IGL02225

Quality Score

Status

Chromosome

Chromosomal Location

115600969-115621602 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115610503 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 228 (H228L)

Ref Sequence

ENSEMBL: ENSMUSP00000081369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084342]

AlphaFold

A2A8T1

Predicted Effect

probably benign
Transcript: ENSMUST00000084342
AA Change: H228L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000081369
Gene: ENSMUSG00000063929
AA Change: H228L

Domain	Start	End	E-Value	Type
transmembrane domain	15	32	N/A	INTRINSIC
Pfam:p450	51	504	1.3e-133	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129918

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
Acp4	A	G	7: 44,256,741		probably null	Het
Adgrf4	C	A	17: 42,663,378		probably null	Het
Aqp9	A	T	9: 71,130,547		probably benign	Het
C1s1	A	G	6: 124,541,334	W8R	probably benign	Het
Cfap43	A	G	19: 47,812,177	I345T	probably benign	Het
Cwh43	T	C	5: 73,421,567	Y306H	probably damaging	Het
Ddx24	A	G	12: 103,417,371	L607P	probably damaging	Het
Dlg3	A	G	X: 100,807,188	K232R	probably benign	Het
Fgfr1op	T	G	17: 8,182,419	D257E	probably damaging	Het
Fig4	A	G	10: 41,256,452	S453P	probably benign	Het
Frem1	A	G	4: 82,940,506	L1556P	probably damaging	Het
Gjb2	T	C	14: 57,100,188	K188E	probably damaging	Het
Gp1bb	C	A	16: 18,620,900	W148L	possibly damaging	Het
Grip1	C	T	10: 120,049,453	T375M	probably damaging	Het
Hnf1b	T	C	11: 83,861,785	L82P	probably damaging	Het
Jakmip1	T	C	5: 37,104,856	V333A	probably damaging	Het
Magi1	G	T	6: 93,694,026	R1069S	probably damaging	Het
Myh15	A	T	16: 49,091,163	E319D	probably benign	Het
Myl4	A	G	11: 104,580,402	I42V	probably benign	Het
Obsl1	A	T	1: 75,503,798	V394E	probably damaging	Het
Olfr1137	C	T	2: 87,711,399	C169Y	possibly damaging	Het
Olfr376	T	A	11: 73,375,078	F110I	probably damaging	Het
Olfr598	A	T	7: 103,329,166	I227F	probably damaging	Het
Pcnt	C	T	10: 76,389,474	R1732K	probably benign	Het
Pkd1l3	T	C	8: 109,638,678	Y1144H	probably damaging	Het
Pogz	A	G	3: 94,879,016	K972E	probably damaging	Het
Sccpdh	A	G	1: 179,679,699	T227A	probably benign	Het
Sec16b	A	G	1: 157,532,044		probably benign	Het
Slain2	T	A	5: 72,941,390	V163E	probably damaging	Het
Snx1	G	A	9: 66,109,621	P56L	probably benign	Het
Snx14	G	A	9: 88,413,524	T196I	probably damaging	Het
Sspo	T	C	6: 48,484,334	F3570L	probably benign	Het
Tbrg4	C	A	11: 6,624,094	V43F	probably damaging	Het
Traf3ip3	A	G	1: 193,195,100	I176T	probably benign	Het
Trbv20	T	A	6: 41,188,307		probably benign	Het
Ubc	A	T	5: 125,386,133	V710D	probably benign	Het
Ugt2b35	T	C	5: 87,007,405		probably benign	Het
Zbed5	C	T	5: 129,902,133		probably null	Het
Zc3hav1	T	C	6: 38,340,341	Y108C	probably damaging	Het

Other mutations in Cyp4a32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02546:Cyp4a32	APN	4	115611323	missense	probably damaging	0.98
IGL02578:Cyp4a32	APN	4	115609742	missense	possibly damaging	0.79
IGL02663:Cyp4a32	APN	4	115610590	missense	probably damaging	1.00
IGL02832:Cyp4a32	APN	4	115614621	missense	probably damaging	0.99
IGL03283:Cyp4a32	APN	4	115611083	missense	possibly damaging	0.79
IGL03357:Cyp4a32	APN	4	115611601	missense	probably benign	0.00
IGL03406:Cyp4a32	APN	4	115602303	missense	probably benign	0.00
R0379:Cyp4a32	UTSW	4	115621474	missense	probably damaging	1.00
R1339:Cyp4a32	UTSW	4	115611563	missense	probably damaging	0.98
R1435:Cyp4a32	UTSW	4	115606666	missense	probably damaging	0.97
R1445:Cyp4a32	UTSW	4	115602950	nonsense	probably null
R1520:Cyp4a32	UTSW	4	115614652	missense	probably damaging	0.97
R1587:Cyp4a32	UTSW	4	115610534	missense	probably benign	0.06
R1719:Cyp4a32	UTSW	4	115611308	missense	possibly damaging	0.61
R1932:Cyp4a32	UTSW	4	115611277	missense	possibly damaging	0.78
R4184:Cyp4a32	UTSW	4	115621523	missense	possibly damaging	0.94
R4580:Cyp4a32	UTSW	4	115602929	splice site	silent
R5004:Cyp4a32	UTSW	4	115601041	missense	probably damaging	0.98
R6345:Cyp4a32	UTSW	4	115602363	missense	possibly damaging	0.81
R7231:Cyp4a32	UTSW	4	115609697	missense	probably damaging	1.00
R7241:Cyp4a32	UTSW	4	115602302	missense	probably benign
R7419:Cyp4a32	UTSW	4	115611037	missense	probably benign
R7716:Cyp4a32	UTSW	4	115601086	missense	probably damaging	1.00
R8921:Cyp4a32	UTSW	4	115611263	missense	probably damaging	0.99
R9009:Cyp4a32	UTSW	4	115610605	missense	probably null	1.00
R9266:Cyp4a32	UTSW	4	115611110	missense	probably damaging	1.00
R9330:Cyp4a32	UTSW	4	115621438	missense	probably damaging	1.00
R9345:Cyp4a32	UTSW	4	115610502	missense	probably benign
R9442:Cyp4a32	UTSW	4	115611225	missense	probably benign	0.21
Z1177:Cyp4a32	UTSW	4	115611345	missense	probably benign	0.03

Posted On

2015-04-16