Mutagenetix > Incidental Mutation

Incidental Mutation 'R4184:Cyp4a32'

319856

Institutional Source

Beutler Lab

Gene Symbol

Cyp4a32

Ensembl Gene

ENSMUSG00000063929

Gene Name

cytochrome P450, family 4, subfamily a, polypeptide 32

Synonyms

OTTMUSG00000008689

MMRRC Submission

041020-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R4184 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115458166-115478799 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115478720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 484 (T484I)

Ref Sequence

ENSEMBL: ENSMUSP00000081369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084342] [ENSMUST00000102707]

AlphaFold

A2A8T1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084342
AA Change: T484I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000081369
Gene: ENSMUSG00000063929
AA Change: T484I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000102707

SMART Domains

Protein: ENSMUSP00000099768
Gene: ENSMUSG00000028713

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:p450	46	501	1.3e-130	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135569

Predicted Effect

probably benign
Transcript: ENSMUST00000145841

SMART Domains

Protein: ENSMUSP00000118323
Gene: ENSMUSG00000028713

Domain	Start	End	E-Value	Type
Pfam:p450	1	375	3.5e-101	PFAM

Meta Mutation Damage Score

0.1994

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

95% (55/58)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	A	T	7: 143,447,858 (GRCm39)	K234*	probably null	Het
Ccdc178	A	G	18: 22,157,841 (GRCm39)	L539P	probably damaging	Het
Cd5	T	A	19: 10,698,638 (GRCm39)	N423I	probably damaging	Het
Ceacam20	C	T	7: 19,710,041 (GRCm39)	T355I	probably damaging	Het
Chil4	G	A	3: 106,111,043 (GRCm39)	P284S	possibly damaging	Het
Cln8	T	C	8: 14,945,030 (GRCm39)	F115L	probably benign	Het
Cpne9	T	A	6: 113,259,418 (GRCm39)		probably benign	Het
Des	C	G	1: 75,339,228 (GRCm39)	A251G	probably benign	Het
Dnah3	T	C	7: 119,682,516 (GRCm39)	D270G	probably damaging	Het
Epc1	T	C	18: 6,453,578 (GRCm39)	E249G	possibly damaging	Het
Fsbp	T	A	4: 11,584,058 (GRCm39)	N252K	probably benign	Het
Gramd1a	C	A	7: 30,831,940 (GRCm39)		probably benign	Het
Grsf1	G	A	5: 88,812,015 (GRCm39)	P271S	probably benign	Het
Igsf10	C	T	3: 59,227,152 (GRCm39)	V2174M	probably damaging	Het
Kcnu1	T	C	8: 26,352,445 (GRCm39)	L204P	probably damaging	Het
Kdm7a	T	C	6: 39,125,911 (GRCm39)	E628G	probably benign	Het
Klhl36	T	C	8: 120,601,124 (GRCm39)	M381T	probably damaging	Het
Kpna3	A	T	14: 61,605,624 (GRCm39)	Y474N	probably damaging	Het
Lsm8	G	T	6: 18,849,604 (GRCm39)		probably benign	Het
Mapk8	T	C	14: 33,104,177 (GRCm39)	D413G	probably damaging	Het
Mbd2	T	A	18: 70,751,050 (GRCm39)	C362S	probably damaging	Het
Mex3b	A	G	7: 82,519,238 (GRCm39)	R518G	probably benign	Het
Mical1	T	C	10: 41,357,866 (GRCm39)		probably benign	Het
Myo18a	T	C	11: 77,748,613 (GRCm39)	S1996P	probably damaging	Het
Or11g7	A	G	14: 50,690,827 (GRCm39)	Y106C	probably damaging	Het
Or11h4b	C	G	14: 50,918,507 (GRCm39)	E195Q	probably benign	Het
Or1o2	T	G	17: 37,542,739 (GRCm39)	H174P	possibly damaging	Het
Otop2	T	A	11: 115,220,671 (GRCm39)	C504S	probably benign	Het
Pkhd1	T	A	1: 20,279,501 (GRCm39)	H2939L	probably benign	Het
Pkhd1	C	T	1: 20,633,910 (GRCm39)	V542M	probably benign	Het
Pkhd1l1	C	T	15: 44,455,302 (GRCm39)	T4021I	probably benign	Het
Prr36	T	C	8: 4,263,409 (GRCm39)		probably benign	Het
Ptchd4	A	T	17: 42,813,650 (GRCm39)	Y517F	probably damaging	Het
Pth1r	A	G	9: 110,571,300 (GRCm39)	M1T	probably null	Het
Rdx	C	A	9: 51,978,680 (GRCm39)	L163M	probably damaging	Het
Reep6	A	G	10: 80,169,648 (GRCm39)	Y112C	probably damaging	Het
Rpp21	A	G	17: 36,568,611 (GRCm39)		probably benign	Het
Sacs	T	A	14: 61,451,393 (GRCm39)	C4480S	probably damaging	Het
Slc15a1	G	A	14: 121,703,574 (GRCm39)	T512I	probably benign	Het
Slc22a22	A	T	15: 57,119,962 (GRCm39)	C170*	probably null	Het
Slc26a2	C	T	18: 61,331,904 (GRCm39)	R509K	probably benign	Het
Slc4a10	A	G	2: 62,147,786 (GRCm39)		probably benign	Het
Stc1	A	T	14: 69,266,834 (GRCm39)		probably benign	Het
Tbc1d32	T	A	10: 56,100,676 (GRCm39)	T101S	probably benign	Het
Tsc2	T	C	17: 24,850,990 (GRCm39)	T23A	probably benign	Het
Vmn1r52	T	G	6: 90,156,219 (GRCm39)	F174L	probably benign	Het
Zfp972	G	A	2: 177,563,250 (GRCm39)	Q56*	probably null	Het
Zfp982	A	G	4: 147,597,150 (GRCm39)	K169R	probably benign	Het
Zfpl1	A	G	19: 6,131,170 (GRCm39)	L274P	probably damaging	Het

Other mutations in Cyp4a32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02225:Cyp4a32	APN	4	115,467,700 (GRCm39)	missense	probably benign
IGL02546:Cyp4a32	APN	4	115,468,520 (GRCm39)	missense	probably damaging	0.98
IGL02578:Cyp4a32	APN	4	115,466,939 (GRCm39)	missense	possibly damaging	0.79
IGL02663:Cyp4a32	APN	4	115,467,787 (GRCm39)	missense	probably damaging	1.00
IGL02832:Cyp4a32	APN	4	115,471,818 (GRCm39)	missense	probably damaging	0.99
IGL03283:Cyp4a32	APN	4	115,468,280 (GRCm39)	missense	possibly damaging	0.79
IGL03357:Cyp4a32	APN	4	115,468,798 (GRCm39)	missense	probably benign	0.00
IGL03406:Cyp4a32	APN	4	115,459,500 (GRCm39)	missense	probably benign	0.00
R0379:Cyp4a32	UTSW	4	115,478,671 (GRCm39)	missense	probably damaging	1.00
R1339:Cyp4a32	UTSW	4	115,468,760 (GRCm39)	missense	probably damaging	0.98
R1435:Cyp4a32	UTSW	4	115,463,863 (GRCm39)	missense	probably damaging	0.97
R1445:Cyp4a32	UTSW	4	115,460,147 (GRCm39)	nonsense	probably null
R1520:Cyp4a32	UTSW	4	115,471,849 (GRCm39)	missense	probably damaging	0.97
R1587:Cyp4a32	UTSW	4	115,467,731 (GRCm39)	missense	probably benign	0.06
R1719:Cyp4a32	UTSW	4	115,468,505 (GRCm39)	missense	possibly damaging	0.61
R1932:Cyp4a32	UTSW	4	115,468,474 (GRCm39)	missense	possibly damaging	0.78
R4580:Cyp4a32	UTSW	4	115,460,126 (GRCm39)	splice site	silent
R5004:Cyp4a32	UTSW	4	115,458,238 (GRCm39)	missense	probably damaging	0.98
R6345:Cyp4a32	UTSW	4	115,459,560 (GRCm39)	missense	possibly damaging	0.81
R7231:Cyp4a32	UTSW	4	115,466,894 (GRCm39)	missense	probably damaging	1.00
R7241:Cyp4a32	UTSW	4	115,459,499 (GRCm39)	missense	probably benign
R7419:Cyp4a32	UTSW	4	115,468,234 (GRCm39)	missense	probably benign
R7716:Cyp4a32	UTSW	4	115,458,283 (GRCm39)	missense	probably damaging	1.00
R8921:Cyp4a32	UTSW	4	115,468,460 (GRCm39)	missense	probably damaging	0.99
R9009:Cyp4a32	UTSW	4	115,467,802 (GRCm39)	missense	probably null	1.00
R9266:Cyp4a32	UTSW	4	115,468,307 (GRCm39)	missense	probably damaging	1.00
R9330:Cyp4a32	UTSW	4	115,478,635 (GRCm39)	missense	probably damaging	1.00
R9345:Cyp4a32	UTSW	4	115,467,699 (GRCm39)	missense	probably benign
R9442:Cyp4a32	UTSW	4	115,468,422 (GRCm39)	missense	probably benign	0.21
Z1177:Cyp4a32	UTSW	4	115,468,542 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGGCCCTGAATGTTGTTCTG -3'
(R):5'- GTTCATGATCAGGTGCACGG -3'

Sequencing Primer
(F):5'- GTGCTGTTTCAAGGATCAGCCC -3'
(R):5'- TCAGGTGCACGGTCAGATATG -3'

Posted On

2015-06-10