Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02097:Cyp2c29'

279606

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

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

IGL02097

Quality Score

Status

Chromosome

Chromosomal Location

39269405-39330713 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39307620 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 126 (D126G)

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: D165G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000003137
Gene: ENSMUSG00000003053
AA Change: D165G

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: D126G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000135863
Gene: ENSMUSG00000003053
AA Change: D126G

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	T	5: 104,961,186	V415D	possibly damaging	Het
Adcy3	C	T	12: 4,212,118	A1056V	probably damaging	Het
Adcy5	G	A	16: 35,272,098	A610T	probably damaging	Het
Arhgap21	G	A	2: 20,880,002	T788I	probably benign	Het
Asic1	T	C	15: 99,694,686		probably benign	Het
Cdhr4	T	A	9: 107,993,000	M68K	probably benign	Het
Cdhr5	G	T	7: 141,269,981	T637K	probably damaging	Het
Corin	A	T	5: 72,372,146	C289S	probably damaging	Het
Cpne4	T	C	9: 104,686,502	V26A	probably damaging	Het
Csmd1	T	C	8: 16,211,759	D908G	probably null	Het
Ddx42	G	A	11: 106,239,160	S426N	probably benign	Het
Dnah1	C	T	14: 31,305,001	V689M	possibly damaging	Het
Dtwd1	A	G	2: 126,164,795	T246A	probably damaging	Het
Fbn1	A	T	2: 125,363,969	M1036K	probably damaging	Het
Fbxo10	T	C	4: 45,048,527	N536S	probably benign	Het
Gnal	G	A	18: 67,217,208		probably benign	Het
Gns	A	G	10: 121,390,693	T416A	probably benign	Het
Heatr5b	G	A	17: 78,817,514	T603I	probably damaging	Het
Hsp90b1	T	A	10: 86,691,684		probably benign	Het
Krt23	C	T	11: 99,493,010	G19R	probably benign	Het
Lama2	C	T	10: 27,138,960	R1584H	probably benign	Het
Lmbr1l	C	T	15: 98,917,891	V11M	probably damaging	Het
Man1a2	T	C	3: 100,582,131	K511E	possibly damaging	Het
Mrgpra3	C	A	7: 47,589,456	V241F	possibly damaging	Het
Myh3	A	G	11: 67,082,924	D141G	probably benign	Het
Mylk2	G	A	2: 152,915,136	C277Y	probably damaging	Het
Myo3b	A	T	2: 70,238,829	T471S	probably damaging	Het
Naip1	A	G	13: 100,425,588	V1023A	probably benign	Het
Olfm5	T	A	7: 104,154,231	T342S	probably benign	Het
Olfr1510	A	G	14: 52,410,054	F273L	probably benign	Het
Olfr38	T	A	6: 42,762,460	M136K	probably damaging	Het
Pglyrp4	T	C	3: 90,735,603	F263L	probably benign	Het
Plekhh2	A	T	17: 84,599,180	T1148S	possibly damaging	Het
Prrc2b	T	C	2: 32,191,501		probably benign	Het
Rbm28	G	T	6: 29,138,618	D398E	possibly damaging	Het
Rnf220	A	G	4: 117,273,327	F234L	probably benign	Het
Sele	T	C	1: 164,053,093	S415P	probably benign	Het
Shpk	T	C	11: 73,203,995	L79P	probably damaging	Het
Slc35f4	C	T	14: 49,306,246	A148T	probably damaging	Het
Slc6a20a	G	A	9: 123,660,619	P120S	possibly damaging	Het
Slc8a2	A	G	7: 16,157,156	E701G	possibly damaging	Het
Slco1a1	T	A	6: 141,940,039	I87F	possibly damaging	Het
Srebf1	T	G	11: 60,202,824	D739A	probably damaging	Het
Thg1l	A	G	11: 45,950,228	Y175H	probably benign	Het
Traf3ip2	G	A	10: 39,654,479	V540M	probably damaging	Het
Wdr48	A	G	9: 119,924,263	D644G	probably damaging	Het
Zbtb1	A	T	12: 76,386,597	K452N	probably damaging	Het
Zfhx2	C	T	14: 55,062,894	G2467R	probably damaging	Het
Zfp334	A	T	2: 165,381,723	Y133*	probably null	Het

Other mutations in Cyp2c29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Cyp2c29	APN	19	39321699	splice site	probably benign
IGL00482:Cyp2c29	APN	19	39325023	missense	probably damaging	0.97
IGL00694:Cyp2c29	APN	19	39321635	missense	possibly damaging	0.64
IGL00836:Cyp2c29	APN	19	39324990	missense	probably damaging	0.98
IGL00858:Cyp2c29	APN	19	39307656	missense	probably damaging	1.00
IGL01350:Cyp2c29	APN	19	39330327	missense	probably damaging	1.00
IGL01455:Cyp2c29	APN	19	39329117	missense	possibly damaging	0.89
IGL01718:Cyp2c29	APN	19	39330260	missense	possibly damaging	0.48
IGL01977:Cyp2c29	APN	19	39290897	splice site	probably benign
IGL01991:Cyp2c29	APN	19	39330315	missense	probably damaging	1.00
IGL02267:Cyp2c29	APN	19	39330422	missense	probably benign	0.19
IGL02451:Cyp2c29	APN	19	39290847	missense	possibly damaging	0.66
IGL02452:Cyp2c29	APN	19	39290847	missense	possibly damaging	0.66
IGL02548:Cyp2c29	APN	19	39290847	missense	possibly damaging	0.66
IGL02549:Cyp2c29	APN	19	39309785	missense	possibly damaging	0.48
IGL02938:Cyp2c29	APN	19	39287123	missense	probably damaging	0.99
IGL03252:Cyp2c29	APN	19	39287175	missense	probably damaging	1.00
IGL03367:Cyp2c29	APN	19	39329215	missense	probably damaging	0.97
H8562:Cyp2c29	UTSW	19	39309662	missense	probably damaging	1.00
IGL03052:Cyp2c29	UTSW	19	39287218	missense	possibly damaging	0.90
R0415:Cyp2c29	UTSW	19	39329095	splice site	probably benign
R0504:Cyp2c29	UTSW	19	39309780	missense	probably benign	0.29
R0690:Cyp2c29	UTSW	19	39309726	missense	probably benign	0.00
R1531:Cyp2c29	UTSW	19	39324968	missense	probably damaging	1.00
R1730:Cyp2c29	UTSW	19	39324945	missense	possibly damaging	0.79
R1981:Cyp2c29	UTSW	19	39307772	splice site	probably null
R2113:Cyp2c29	UTSW	19	39330264	missense	probably damaging	1.00
R2220:Cyp2c29	UTSW	19	39287232	missense	probably benign	0.09
R3873:Cyp2c29	UTSW	19	39329144	missense	probably damaging	0.99
R4424:Cyp2c29	UTSW	19	39287176	missense	probably damaging	0.98
R4451:Cyp2c29	UTSW	19	39290826	missense	probably damaging	0.99
R4803:Cyp2c29	UTSW	19	39324995	missense	probably benign	0.01
R5288:Cyp2c29	UTSW	19	39330372	missense	probably damaging	0.96
R5474:Cyp2c29	UTSW	19	39324992	missense	probably damaging	1.00
R5475:Cyp2c29	UTSW	19	39330287	missense	possibly damaging	0.91
R5893:Cyp2c29	UTSW	19	39330389	missense	possibly damaging	0.93
R5894:Cyp2c29	UTSW	19	39330389	missense	possibly damaging	0.93
R6000:Cyp2c29	UTSW	19	39307606	critical splice acceptor site	probably null
R6144:Cyp2c29	UTSW	19	39321609	missense	possibly damaging	0.96
R6296:Cyp2c29	UTSW	19	39330261	missense	possibly damaging	0.64
R6365:Cyp2c29	UTSW	19	39307754	missense	probably damaging	1.00
R6449:Cyp2c29	UTSW	19	39290867	missense	probably benign	0.05
R6464:Cyp2c29	UTSW	19	39329225	missense	probably damaging	0.96
R6919:Cyp2c29	UTSW	19	39291141	missense	probably benign	0.26
R6978:Cyp2c29	UTSW	19	39321663	missense	probably damaging	1.00
R7038:Cyp2c29	UTSW	19	39287127	missense	probably benign	0.01
R7040:Cyp2c29	UTSW	19	39330337	missense	possibly damaging	0.95
R7391:Cyp2c29	UTSW	19	39307767	missense	probably null	0.98
R8712:Cyp2c29	UTSW	19	39321694	critical splice donor site	probably benign
R8863:Cyp2c29	UTSW	19	39273366	missense	probably benign	0.00
R9468:Cyp2c29	UTSW	19	39307722	missense	probably benign	0.07
X0024:Cyp2c29	UTSW	19	39321599	missense	probably benign	0.01
Z1176:Cyp2c29	UTSW	19	39324997	missense	probably benign	0.08

Posted On

2015-04-16