Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01628:Cyp3a59'

92825

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp3a59

Ensembl Gene

ENSMUSG00000061292

Gene Name

cytochrome P450, family 3, subfamily a, polypeptide 59

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01628

Quality Score

Status

Chromosome

Chromosomal Location

146016067-146050097 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146036629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 277 (N277S)

Ref Sequence

ENSEMBL: ENSMUSP00000049494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035571] [ENSMUST00000199212]

AlphaFold

D3Z2W7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035571
AA Change: N277S

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000049494
Gene: ENSMUSG00000061292
AA Change: N277S

Domain	Start	End	E-Value	Type
Pfam:p450	38	493	5.3e-128	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199212

SMART Domains

Protein: ENSMUSP00000142591
Gene: ENSMUSG00000061292

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:p450	38	148	3.3e-20	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430005L14Rik	T	C	4: 154,045,436 (GRCm39)	V155A	probably damaging	Het
Agtpbp1	T	A	13: 59,655,877 (GRCm39)		probably benign	Het
Bltp1	T	G	3: 37,062,634 (GRCm39)	V3382G	probably damaging	Het
Cd300ld	A	G	11: 114,876,999 (GRCm39)	I144T	probably benign	Het
Cmc1	A	T	9: 117,944,452 (GRCm39)	I22K	probably benign	Het
Edil3	G	T	13: 89,467,945 (GRCm39)		probably benign	Het
Glipr2	C	A	4: 43,977,565 (GRCm39)	A136E	probably damaging	Het
Gm8297	G	A	14: 16,164,995 (GRCm39)	M1I	probably null	Het
Insrr	C	A	3: 87,708,099 (GRCm39)	C180*	probably null	Het
Kat2b	A	G	17: 53,917,925 (GRCm39)	N95D	possibly damaging	Het
Mgat4b	A	G	11: 50,124,136 (GRCm39)	I359V	probably benign	Het
Or2h2	A	T	17: 37,396,192 (GRCm39)	Y288*	probably null	Het
Parp9	A	G	16: 35,777,285 (GRCm39)	T177A	possibly damaging	Het
Rmdn2	T	A	17: 79,979,817 (GRCm39)	Y361*	probably null	Het
Rusc2	A	C	4: 43,425,729 (GRCm39)	Q1278P	probably damaging	Het
Setbp1	A	T	18: 78,899,992 (GRCm39)	L1225Q	probably damaging	Het
Slc39a10	A	T	1: 46,874,683 (GRCm39)	H206Q	probably benign	Het
Slc4a10	A	G	2: 62,099,010 (GRCm39)	Y586C	probably damaging	Het
Sos1	C	T	17: 80,730,106 (GRCm39)		probably benign	Het
Tnn	A	G	1: 159,975,172 (GRCm39)	I85T	possibly damaging	Het
Ttn	A	G	2: 76,769,036 (GRCm39)		probably null	Het
Wdr33	G	T	18: 32,021,363 (GRCm39)	G638C	unknown	Het
Zfp976	T	C	7: 42,261,935 (GRCm39)	Y634C	unknown	Het

Other mutations in Cyp3a59

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01120:Cyp3a59	APN	5	146,039,671 (GRCm39)	missense	probably damaging	0.99
IGL01129:Cyp3a59	APN	5	146,035,089 (GRCm39)	missense	probably benign	0.06
IGL01982:Cyp3a59	APN	5	146,041,545 (GRCm39)	missense	probably benign	0.00
IGL02094:Cyp3a59	APN	5	146,041,631 (GRCm39)	missense	probably benign	0.05
IGL02140:Cyp3a59	APN	5	146,039,690 (GRCm39)	missense	probably damaging	1.00
IGL02350:Cyp3a59	APN	5	146,016,152 (GRCm39)	missense	probably damaging	1.00
IGL02357:Cyp3a59	APN	5	146,016,152 (GRCm39)	missense	probably damaging	1.00
IGL02445:Cyp3a59	APN	5	146,033,463 (GRCm39)	missense	probably benign	0.00
IGL02681:Cyp3a59	APN	5	146,027,556 (GRCm39)	splice site	probably benign
IGL02870:Cyp3a59	APN	5	146,034,994 (GRCm39)	missense	probably benign
IGL03023:Cyp3a59	APN	5	146,022,660 (GRCm39)	missense	probably benign	0.02
PIT4802001:Cyp3a59	UTSW	5	146,039,611 (GRCm39)	missense	probably benign	0.00
R0220:Cyp3a59	UTSW	5	146,035,080 (GRCm39)	missense	probably benign	0.02
R0532:Cyp3a59	UTSW	5	146,033,463 (GRCm39)	nonsense	probably null
R1084:Cyp3a59	UTSW	5	146,033,484 (GRCm39)	missense	probably benign
R1263:Cyp3a59	UTSW	5	146,041,521 (GRCm39)	missense	probably damaging	1.00
R1573:Cyp3a59	UTSW	5	146,039,684 (GRCm39)	missense	probably damaging	1.00
R1747:Cyp3a59	UTSW	5	146,041,568 (GRCm39)	missense	probably benign
R1759:Cyp3a59	UTSW	5	146,035,060 (GRCm39)	missense	probably benign	0.10
R1812:Cyp3a59	UTSW	5	146,039,621 (GRCm39)	missense	probably damaging	1.00
R1937:Cyp3a59	UTSW	5	146,031,187 (GRCm39)	missense	possibly damaging	0.80
R2026:Cyp3a59	UTSW	5	146,033,098 (GRCm39)	missense	probably damaging	1.00
R2060:Cyp3a59	UTSW	5	146,041,524 (GRCm39)	missense	probably damaging	1.00
R2355:Cyp3a59	UTSW	5	146,036,622 (GRCm39)	missense	probably benign	0.09
R3721:Cyp3a59	UTSW	5	146,033,407 (GRCm39)	missense	probably damaging	0.96
R4013:Cyp3a59	UTSW	5	146,016,193 (GRCm39)	missense	probably benign	0.01
R4421:Cyp3a59	UTSW	5	146,041,713 (GRCm39)	splice site	probably null
R4432:Cyp3a59	UTSW	5	146,041,596 (GRCm39)	missense	probably benign	0.04
R4633:Cyp3a59	UTSW	5	146,031,248 (GRCm39)	missense	probably damaging	1.00
R4843:Cyp3a59	UTSW	5	146,033,071 (GRCm39)	missense	possibly damaging	0.61
R4886:Cyp3a59	UTSW	5	146,024,197 (GRCm39)	missense	probably damaging	1.00
R5236:Cyp3a59	UTSW	5	146,039,635 (GRCm39)	missense	probably benign	0.20
R5386:Cyp3a59	UTSW	5	146,022,578 (GRCm39)	missense	probably benign	0.01
R5627:Cyp3a59	UTSW	5	146,049,664 (GRCm39)	missense	probably benign	0.00
R5792:Cyp3a59	UTSW	5	146,036,661 (GRCm39)	missense	possibly damaging	0.92
R5935:Cyp3a59	UTSW	5	146,027,455 (GRCm39)	nonsense	probably null
R6531:Cyp3a59	UTSW	5	146,035,027 (GRCm39)	missense	probably benign	0.00
R6790:Cyp3a59	UTSW	5	146,033,143 (GRCm39)	missense	probably benign
R7108:Cyp3a59	UTSW	5	146,033,143 (GRCm39)	missense	probably benign
R7222:Cyp3a59	UTSW	5	146,033,385 (GRCm39)	critical splice acceptor site	probably null
R7447:Cyp3a59	UTSW	5	146,024,215 (GRCm39)	missense	probably benign	0.25
R7457:Cyp3a59	UTSW	5	146,041,560 (GRCm39)	missense	probably damaging	1.00
R7723:Cyp3a59	UTSW	5	146,016,154 (GRCm39)	missense	probably benign	0.06
R8171:Cyp3a59	UTSW	5	146,022,584 (GRCm39)	missense	probably damaging	1.00
R8417:Cyp3a59	UTSW	5	146,027,495 (GRCm39)	missense	possibly damaging	0.49
R8474:Cyp3a59	UTSW	5	146,041,487 (GRCm39)	missense	probably benign	0.01
R8716:Cyp3a59	UTSW	5	146,033,411 (GRCm39)	missense	probably damaging	0.99
R8728:Cyp3a59	UTSW	5	146,035,122 (GRCm39)	critical splice donor site	probably null
R8839:Cyp3a59	UTSW	5	146,045,896 (GRCm39)	missense	probably benign
R8969:Cyp3a59	UTSW	5	146,049,630 (GRCm39)	missense	probably benign	0.15
R9478:Cyp3a59	UTSW	5	146,034,997 (GRCm39)	missense	probably damaging	0.98
R9697:Cyp3a59	UTSW	5	146,031,190 (GRCm39)	missense	probably damaging	0.99
R9705:Cyp3a59	UTSW	5	146,033,120 (GRCm39)	missense	probably benign	0.00
Z1088:Cyp3a59	UTSW	5	146,035,032 (GRCm39)	missense	probably benign	0.33

Posted On

2013-12-09