Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00858:Cyp2c29'

9978

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp2c29

Ensembl Gene

ENSMUSG00000003053

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 29

Synonyms

AHOHase, Ahh-1, Ah-2, P450-2C, Cyp2c, AHOH

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

IGL00858

Quality Score

Status

Chromosome

Chromosomal Location

39275541-39319157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39296100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 138 (V138D)

Ref Sequence

ENSEMBL: ENSMUSP00000135863 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003137] [ENSMUST00000176624] [ENSMUST00000177087]

AlphaFold

Q64458

Predicted Effect

probably damaging
Transcript: ENSMUST00000003137
AA Change: V177D

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

SMART Domains

Protein: ENSMUSP00000003137
Gene: ENSMUSG00000003053
AA Change: V177D

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
Pfam:p450	30	487	5.4e-165	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000176624
AA Change: V138D

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

SMART Domains

Protein: ENSMUSP00000135863
Gene: ENSMUSG00000003053
AA Change: V138D

Domain	Start	End	E-Value	Type
Pfam:p450	12	448	2.7e-156	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177087

SMART Domains

Protein: ENSMUSP00000135839
Gene: ENSMUSG00000003053

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
Pfam:p450	30	118	8.4e-22	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 121,967,537 (GRCm39)	V988M	probably damaging	Het
Afap1l1	G	A	18: 61,869,925 (GRCm39)	T635M	probably benign	Het
B4galnt1	A	G	10: 127,003,633 (GRCm39)	T199A	probably benign	Het
Ccdc183	T	A	2: 25,499,783 (GRCm39)	M378L	probably benign	Het
Ccser1	C	A	6: 61,787,649 (GRCm39)	S134*	probably null	Het
Cluh	A	G	11: 74,550,431 (GRCm39)	K248E	possibly damaging	Het
Cpa6	T	A	1: 10,554,219 (GRCm39)	R129S	probably damaging	Het
Cyp4f14	A	G	17: 33,130,692 (GRCm39)		probably benign	Het
Dock10	T	C	1: 80,545,720 (GRCm39)	N841S	possibly damaging	Het
Dtwd2	A	T	18: 49,861,452 (GRCm39)	I98N	probably damaging	Het
Fut10	G	T	8: 31,725,733 (GRCm39)	V163F	probably damaging	Het
Ifi44	T	A	3: 151,455,217 (GRCm39)	M3L	probably benign	Het
Mtch1	C	T	17: 29,559,430 (GRCm39)	D74N	probably damaging	Het
Nav3	A	G	10: 109,578,493 (GRCm39)	V1588A	probably damaging	Het
Pbk	T	C	14: 66,049,373 (GRCm39)		probably benign	Het
Ptcd1	A	T	5: 145,088,092 (GRCm39)		probably benign	Het
Rapgef4	A	T	2: 72,029,241 (GRCm39)	I438F	probably damaging	Het
Tas2r113	C	A	6: 132,870,115 (GRCm39)	R48S	probably benign	Het
Tektl1	T	C	10: 78,586,403 (GRCm39)	D216G	probably damaging	Het
Tnn	C	T	1: 159,915,962 (GRCm39)		probably null	Het
Tnnt2	G	A	1: 135,779,440 (GRCm39)	V277I	probably damaging	Het
Twnk	G	T	19: 44,996,065 (GRCm39)	W166L	probably benign	Het
Utp20	G	A	10: 88,644,987 (GRCm39)	L580F	possibly damaging	Het
Utp20	T	A	10: 88,645,000 (GRCm39)	E575D	probably benign	Het

Other mutations in Cyp2c29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Cyp2c29	APN	19	39,310,143 (GRCm39)	splice site	probably benign
IGL00482:Cyp2c29	APN	19	39,313,467 (GRCm39)	missense	probably damaging	0.97
IGL00694:Cyp2c29	APN	19	39,310,079 (GRCm39)	missense	possibly damaging	0.64
IGL00836:Cyp2c29	APN	19	39,313,434 (GRCm39)	missense	probably damaging	0.98
IGL01350:Cyp2c29	APN	19	39,318,771 (GRCm39)	missense	probably damaging	1.00
IGL01455:Cyp2c29	APN	19	39,317,561 (GRCm39)	missense	possibly damaging	0.89
IGL01718:Cyp2c29	APN	19	39,318,704 (GRCm39)	missense	possibly damaging	0.48
IGL01977:Cyp2c29	APN	19	39,279,341 (GRCm39)	splice site	probably benign
IGL01991:Cyp2c29	APN	19	39,318,759 (GRCm39)	missense	probably damaging	1.00
IGL02097:Cyp2c29	APN	19	39,296,064 (GRCm39)	missense	probably damaging	1.00
IGL02267:Cyp2c29	APN	19	39,318,866 (GRCm39)	missense	probably benign	0.19
IGL02451:Cyp2c29	APN	19	39,279,291 (GRCm39)	missense	possibly damaging	0.66
IGL02452:Cyp2c29	APN	19	39,279,291 (GRCm39)	missense	possibly damaging	0.66
IGL02548:Cyp2c29	APN	19	39,279,291 (GRCm39)	missense	possibly damaging	0.66
IGL02549:Cyp2c29	APN	19	39,298,229 (GRCm39)	missense	possibly damaging	0.48
IGL02938:Cyp2c29	APN	19	39,275,567 (GRCm39)	missense	probably damaging	0.99
IGL03252:Cyp2c29	APN	19	39,275,619 (GRCm39)	missense	probably damaging	1.00
IGL03367:Cyp2c29	APN	19	39,317,659 (GRCm39)	missense	probably damaging	0.97
H8562:Cyp2c29	UTSW	19	39,298,106 (GRCm39)	missense	probably damaging	1.00
IGL03052:Cyp2c29	UTSW	19	39,275,662 (GRCm39)	missense	possibly damaging	0.90
R0415:Cyp2c29	UTSW	19	39,317,539 (GRCm39)	splice site	probably benign
R0504:Cyp2c29	UTSW	19	39,298,224 (GRCm39)	missense	probably benign	0.29
R0690:Cyp2c29	UTSW	19	39,298,170 (GRCm39)	missense	probably benign	0.00
R1531:Cyp2c29	UTSW	19	39,313,412 (GRCm39)	missense	probably damaging	1.00
R1730:Cyp2c29	UTSW	19	39,313,389 (GRCm39)	missense	possibly damaging	0.79
R1981:Cyp2c29	UTSW	19	39,296,216 (GRCm39)	splice site	probably null
R2113:Cyp2c29	UTSW	19	39,318,708 (GRCm39)	missense	probably damaging	1.00
R2220:Cyp2c29	UTSW	19	39,275,676 (GRCm39)	missense	probably benign	0.09
R3873:Cyp2c29	UTSW	19	39,317,588 (GRCm39)	missense	probably damaging	0.99
R4424:Cyp2c29	UTSW	19	39,275,620 (GRCm39)	missense	probably damaging	0.98
R4451:Cyp2c29	UTSW	19	39,279,270 (GRCm39)	missense	probably damaging	0.99
R4803:Cyp2c29	UTSW	19	39,313,439 (GRCm39)	missense	probably benign	0.01
R5288:Cyp2c29	UTSW	19	39,318,816 (GRCm39)	missense	probably damaging	0.96
R5474:Cyp2c29	UTSW	19	39,313,436 (GRCm39)	missense	probably damaging	1.00
R5475:Cyp2c29	UTSW	19	39,318,731 (GRCm39)	missense	possibly damaging	0.91
R5893:Cyp2c29	UTSW	19	39,318,833 (GRCm39)	missense	possibly damaging	0.93
R5894:Cyp2c29	UTSW	19	39,318,833 (GRCm39)	missense	possibly damaging	0.93
R6000:Cyp2c29	UTSW	19	39,296,050 (GRCm39)	critical splice acceptor site	probably null
R6144:Cyp2c29	UTSW	19	39,310,053 (GRCm39)	missense	possibly damaging	0.96
R6296:Cyp2c29	UTSW	19	39,318,705 (GRCm39)	missense	possibly damaging	0.64
R6365:Cyp2c29	UTSW	19	39,296,198 (GRCm39)	missense	probably damaging	1.00
R6449:Cyp2c29	UTSW	19	39,279,311 (GRCm39)	missense	probably benign	0.05
R6464:Cyp2c29	UTSW	19	39,317,669 (GRCm39)	missense	probably damaging	0.96
R6919:Cyp2c29	UTSW	19	39,279,585 (GRCm39)	missense	probably benign	0.26
R6978:Cyp2c29	UTSW	19	39,310,107 (GRCm39)	missense	probably damaging	1.00
R7038:Cyp2c29	UTSW	19	39,275,571 (GRCm39)	missense	probably benign	0.01
R7040:Cyp2c29	UTSW	19	39,318,781 (GRCm39)	missense	possibly damaging	0.95
R7391:Cyp2c29	UTSW	19	39,296,211 (GRCm39)	missense	probably null	0.98
R8712:Cyp2c29	UTSW	19	39,310,138 (GRCm39)	critical splice donor site	probably benign
R8863:Cyp2c29	UTSW	19	39,261,810 (GRCm39)	missense	probably benign	0.00
R9468:Cyp2c29	UTSW	19	39,296,166 (GRCm39)	missense	probably benign	0.07
X0024:Cyp2c29	UTSW	19	39,310,043 (GRCm39)	missense	probably benign	0.01
Z1176:Cyp2c29	UTSW	19	39,313,441 (GRCm39)	missense	probably benign	0.08

Posted On

2012-12-06