Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03023:Cyp3a59'

408034

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 #

IGL03023

Quality Score

Status

Chromosome

Chromosomal Location

146016067-146050097 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146022660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 55 (D55E)

Ref Sequence

ENSEMBL: ENSMUSP00000142591 (fasta)

Gene Model

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

AlphaFold

D3Z2W7

Predicted Effect

probably benign
Transcript: ENSMUST00000035571
AA Change: D55E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000049494
Gene: ENSMUSG00000061292
AA Change: D55E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199212
AA Change: D55E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000142591
Gene: ENSMUSG00000061292
AA Change: D55E

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
Abhd18	A	G	3: 40,859,419 (GRCm39)	D28G	probably damaging	Het
Btaf1	C	T	19: 36,987,415 (GRCm39)	R1746C	possibly damaging	Het
Comp	T	C	8: 70,831,260 (GRCm39)		probably benign	Het
Cspg4b	A	G	13: 113,488,275 (GRCm39)	D99G	probably benign	Het
Cyp2d9	A	G	15: 82,339,719 (GRCm39)	T313A	probably damaging	Het
Dysf	A	G	6: 84,169,989 (GRCm39)	Y1790C	probably damaging	Het
Fmo3	A	C	1: 162,786,034 (GRCm39)	F319V	probably benign	Het
Frem2	A	T	3: 53,563,049 (GRCm39)	V486D	probably benign	Het
Gucy2c	A	T	6: 136,679,794 (GRCm39)		probably null	Het
Hdac7	A	T	15: 97,695,838 (GRCm39)	Y674N	probably damaging	Het
Inpp5a	G	A	7: 139,105,702 (GRCm39)		probably null	Het
Jup	T	C	11: 100,271,518 (GRCm39)		probably benign	Het
Krt84	T	C	15: 101,436,880 (GRCm39)	T385A	possibly damaging	Het
Nbeal1	T	C	1: 60,292,572 (GRCm39)	Y1075H	probably damaging	Het
Nphp4	A	G	4: 152,608,692 (GRCm39)		probably null	Het
Or10ak11	A	T	4: 118,687,449 (GRCm39)	F63I	probably damaging	Het
Or12d17	A	G	17: 37,777,885 (GRCm39)	T263A	probably benign	Het
Or4p7	G	A	2: 88,221,687 (GRCm39)	C32Y	probably damaging	Het
Psmc4	T	A	7: 27,742,285 (GRCm39)	I264L	possibly damaging	Het
Rwdd4a	T	C	8: 47,995,803 (GRCm39)	V61A	probably benign	Het
Setx	A	G	2: 29,035,914 (GRCm39)	T800A	probably benign	Het
Vmn1r74	T	C	7: 11,581,257 (GRCm39)	C186R	possibly damaging	Het
Vsig2	A	G	9: 37,453,708 (GRCm39)	Y136C	probably damaging	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
IGL01628:Cyp3a59	APN	5	146,036,629 (GRCm39)	missense	possibly damaging	0.94
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
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

2016-08-02