Mutagenetix > Incidental Mutation

Incidental Mutation 'R1981:Cyp2c29'

222417

Institutional Source

Beutler Lab

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

MMRRC Submission

039993-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R1981 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39269405-39330713 bp(+) (GRCm38)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 39307772 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135863 (fasta)

Gene Model

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

AlphaFold

Q64458

Predicted Effect

probably null
Transcript: ENSMUST00000003137

SMART Domains

Protein: ENSMUSP00000003137
Gene: ENSMUSG00000003053

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 null
Transcript: ENSMUST00000176624

SMART Domains

Protein: ENSMUSP00000135863
Gene: ENSMUSG00000003053

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks1	T	C	17: 27,985,121 (GRCm38)	V181A	probably damaging	Het
Aqp4	T	C	18: 15,393,551 (GRCm38)	D291G	probably damaging	Het
Atad1	G	T	19: 32,695,810 (GRCm38)	D224E	probably benign	Het
Atp1a3	T	G	7: 25,000,975 (GRCm38)	E33A	probably benign	Het
Baz2b	A	G	2: 59,923,680 (GRCm38)	F1100L	possibly damaging	Het
Car7	C	T	8: 104,548,377 (GRCm38)		probably benign	Het
Casp8	C	A	1: 58,828,962 (GRCm38)		probably null	Het
Cdh23	A	T	10: 60,378,751 (GRCm38)	L1495H	probably damaging	Het
Ceacam9	T	G	7: 16,725,307 (GRCm38)	L177R	probably benign	Het
Col16a1	C	G	4: 130,065,443 (GRCm38)	P346A	unknown	Het
Cyp3a13	T	C	5: 137,911,856 (GRCm38)	S139G	probably damaging	Het
Dapk2	A	G	9: 66,268,898 (GRCm38)	H327R	probably benign	Het
Ddx19b	T	C	8: 111,009,343 (GRCm38)	T357A	possibly damaging	Het
Dnah2	A	G	11: 69,474,325 (GRCm38)	Y1944H	probably damaging	Het
Dnai2	T	A	11: 114,732,929 (GRCm38)	V6E	probably damaging	Het
Eipr1	T	C	12: 28,863,025 (GRCm38)	Y242H	probably damaging	Het
Fam149a	T	G	8: 45,381,741 (GRCm38)	D7A	probably damaging	Het
Fam217a	T	A	13: 34,916,754 (GRCm38)	D140V	probably benign	Het
Fat4	G	A	3: 38,991,664 (GRCm38)	C3944Y	probably damaging	Het
Fezf2	G	T	14: 12,344,405 (GRCm38)	P261T	probably benign	Het
Gcsam	A	T	16: 45,619,974 (GRCm38)	T127S	probably damaging	Het
Git2	C	T	5: 114,749,559 (GRCm38)		probably benign	Het
Gm1527	T	C	3: 28,915,835 (GRCm38)		probably null	Het
Gm7030	T	A	17: 36,128,722 (GRCm38)	D122V	probably damaging	Het
Gtf3c1	A	G	7: 125,644,272 (GRCm38)	L1720P	possibly damaging	Het
Hat1	A	G	2: 71,389,977 (GRCm38)	T28A	probably benign	Het
Igf2r	G	A	17: 12,733,903 (GRCm38)	Q219*	probably null	Het
Impdh1	T	A	6: 29,206,451 (GRCm38)	D129V	possibly damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906 (GRCm38)	74	probably benign	Het
Ltbp3	A	G	19: 5,758,079 (GRCm38)	Q1250R	probably benign	Het
Mansc4	T	A	6: 147,075,675 (GRCm38)	I148F	probably benign	Het
Mast2	T	C	4: 116,314,840 (GRCm38)	Y569C	probably damaging	Het
Mcoln3	A	T	3: 146,140,590 (GRCm38)	K552*	probably null	Het
Mctp2	T	C	7: 72,164,698 (GRCm38)	Q601R	probably benign	Het
Mei1	A	G	15: 82,103,312 (GRCm38)	N859S	probably benign	Het
Myo19	A	T	11: 84,892,170 (GRCm38)	Q170L	possibly damaging	Het
Myo1h	T	C	5: 114,353,837 (GRCm38)	F676S	probably damaging	Het
Myo9a	A	G	9: 59,894,146 (GRCm38)	T1876A	probably benign	Het
Nav3	G	T	10: 109,719,090 (GRCm38)		probably benign	Het
Ndor1	T	C	2: 25,255,224 (GRCm38)	Y43C	probably damaging	Het
Nlrp1a	A	G	11: 71,098,938 (GRCm38)	V1102A	probably damaging	Het
Nmnat3	T	C	9: 98,410,299 (GRCm38)	I199T	possibly damaging	Het
Nsun7	T	C	5: 66,261,214 (GRCm38)	S96P	probably damaging	Het
Ntng1	A	G	3: 109,935,010 (GRCm38)	V149A	possibly damaging	Het
Oas3	T	C	5: 120,761,835 (GRCm38)		probably benign	Het
Or10v9	T	G	19: 11,855,007 (GRCm38)	Q315H	possibly damaging	Het
Or4k47	T	A	2: 111,621,241 (GRCm38)	I278F	probably benign	Het
Or5bw2	A	G	7: 6,570,558 (GRCm38)	D189G	probably benign	Het
Or6z7	T	C	7: 6,480,932 (GRCm38)	M75V	probably benign	Het
Or8b3	T	C	9: 38,403,735 (GRCm38)	L287P	probably damaging	Het
Or8k53	A	T	2: 86,347,142 (GRCm38)	I208N	possibly damaging	Het
Pax2	G	A	19: 44,818,465 (GRCm38)	D301N	probably damaging	Het
Pcsk4	T	A	10: 80,325,779 (GRCm38)	E176V	probably damaging	Het
Pkhd1	G	A	1: 20,117,060 (GRCm38)	P3675S	probably benign	Het
Plekho2	A	T	9: 65,558,692 (GRCm38)	L138Q	probably damaging	Het
Ppp4r3c1	A	T	X: 89,931,445 (GRCm38)	V382E	probably damaging	Het
Prkcsh	A	G	9: 22,012,868 (GRCm38)	D458G	probably damaging	Het
Prr11	T	A	11: 87,103,290 (GRCm38)	D100V	probably damaging	Het
Qars1	A	G	9: 108,515,028 (GRCm38)	N136D	probably damaging	Het
Rbm15b	A	G	9: 106,881,623 (GRCm38)		probably benign	Het
Rel	C	T	11: 23,742,761 (GRCm38)	G424D	probably benign	Het
Rsrc1	A	G	3: 67,350,005 (GRCm38)	D250G	probably benign	Het
Samt3	A	C	X: 86,047,134 (GRCm38)	M211L	probably benign	Het
Scn2a	C	A	2: 65,690,170 (GRCm38)	N503K	probably damaging	Het
Sh2d6	G	A	6: 72,517,544 (GRCm38)		probably benign	Het
Smg8	T	C	11: 87,085,331 (GRCm38)	T475A	probably benign	Het
Ssxb10	A	G	X: 8,331,019 (GRCm38)	D77G	probably benign	Het
Tbx20	T	A	9: 24,770,913 (GRCm38)	K48N	possibly damaging	Het
Tead1	C	A	7: 112,891,745 (GRCm38)	D231E	probably benign	Het
Ticam1	C	T	17: 56,271,555 (GRCm38)	R180H	probably damaging	Het
Tjp1	A	T	7: 65,312,855 (GRCm38)	F1111L	probably damaging	Het
Tlr11	T	A	14: 50,361,988 (GRCm38)	I477K	possibly damaging	Het
Ttc13	A	G	8: 124,714,187 (GRCm38)		probably null	Het
Ttc17	T	C	2: 94,326,704 (GRCm38)	N411S	probably benign	Het
Usp15	T	A	10: 123,125,041 (GRCm38)		probably benign	Het
Usp18	A	G	6: 121,252,517 (GRCm38)	K32E	probably benign	Het
Vmn1r12	A	T	6: 57,159,661 (GRCm38)	M248L	probably benign	Het
Zbtb14	C	A	17: 69,388,502 (GRCm38)	F398L	probably damaging	Het
Zfp930	T	A	8: 69,228,172 (GRCm38)	L172H	probably damaging	Het
Zfp976	G	A	7: 42,613,622 (GRCm38)	H264Y	probably damaging	Het

Other mutations in Cyp2c29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Cyp2c29	APN	19	39,321,699 (GRCm38)	splice site	probably benign
IGL00482:Cyp2c29	APN	19	39,325,023 (GRCm38)	missense	probably damaging	0.97
IGL00694:Cyp2c29	APN	19	39,321,635 (GRCm38)	missense	possibly damaging	0.64
IGL00836:Cyp2c29	APN	19	39,324,990 (GRCm38)	missense	probably damaging	0.98
IGL00858:Cyp2c29	APN	19	39,307,656 (GRCm38)	missense	probably damaging	1.00
IGL01350:Cyp2c29	APN	19	39,330,327 (GRCm38)	missense	probably damaging	1.00
IGL01455:Cyp2c29	APN	19	39,329,117 (GRCm38)	missense	possibly damaging	0.89
IGL01718:Cyp2c29	APN	19	39,330,260 (GRCm38)	missense	possibly damaging	0.48
IGL01977:Cyp2c29	APN	19	39,290,897 (GRCm38)	splice site	probably benign
IGL01991:Cyp2c29	APN	19	39,330,315 (GRCm38)	missense	probably damaging	1.00
IGL02097:Cyp2c29	APN	19	39,307,620 (GRCm38)	missense	probably damaging	1.00
IGL02267:Cyp2c29	APN	19	39,330,422 (GRCm38)	missense	probably benign	0.19
IGL02451:Cyp2c29	APN	19	39,290,847 (GRCm38)	missense	possibly damaging	0.66
IGL02452:Cyp2c29	APN	19	39,290,847 (GRCm38)	missense	possibly damaging	0.66
IGL02548:Cyp2c29	APN	19	39,290,847 (GRCm38)	missense	possibly damaging	0.66
IGL02549:Cyp2c29	APN	19	39,309,785 (GRCm38)	missense	possibly damaging	0.48
IGL02938:Cyp2c29	APN	19	39,287,123 (GRCm38)	missense	probably damaging	0.99
IGL03252:Cyp2c29	APN	19	39,287,175 (GRCm38)	missense	probably damaging	1.00
IGL03367:Cyp2c29	APN	19	39,329,215 (GRCm38)	missense	probably damaging	0.97
H8562:Cyp2c29	UTSW	19	39,309,662 (GRCm38)	missense	probably damaging	1.00
IGL03052:Cyp2c29	UTSW	19	39,287,218 (GRCm38)	missense	possibly damaging	0.90
R0415:Cyp2c29	UTSW	19	39,329,095 (GRCm38)	splice site	probably benign
R0504:Cyp2c29	UTSW	19	39,309,780 (GRCm38)	missense	probably benign	0.29
R0690:Cyp2c29	UTSW	19	39,309,726 (GRCm38)	missense	probably benign	0.00
R1531:Cyp2c29	UTSW	19	39,324,968 (GRCm38)	missense	probably damaging	1.00
R1730:Cyp2c29	UTSW	19	39,324,945 (GRCm38)	missense	possibly damaging	0.79
R2113:Cyp2c29	UTSW	19	39,330,264 (GRCm38)	missense	probably damaging	1.00
R2220:Cyp2c29	UTSW	19	39,287,232 (GRCm38)	missense	probably benign	0.09
R3873:Cyp2c29	UTSW	19	39,329,144 (GRCm38)	missense	probably damaging	0.99
R4424:Cyp2c29	UTSW	19	39,287,176 (GRCm38)	missense	probably damaging	0.98
R4451:Cyp2c29	UTSW	19	39,290,826 (GRCm38)	missense	probably damaging	0.99
R4803:Cyp2c29	UTSW	19	39,324,995 (GRCm38)	missense	probably benign	0.01
R5288:Cyp2c29	UTSW	19	39,330,372 (GRCm38)	missense	probably damaging	0.96
R5474:Cyp2c29	UTSW	19	39,324,992 (GRCm38)	missense	probably damaging	1.00
R5475:Cyp2c29	UTSW	19	39,330,287 (GRCm38)	missense	possibly damaging	0.91
R5893:Cyp2c29	UTSW	19	39,330,389 (GRCm38)	missense	possibly damaging	0.93
R5894:Cyp2c29	UTSW	19	39,330,389 (GRCm38)	missense	possibly damaging	0.93
R6000:Cyp2c29	UTSW	19	39,307,606 (GRCm38)	critical splice acceptor site	probably null
R6144:Cyp2c29	UTSW	19	39,321,609 (GRCm38)	missense	possibly damaging	0.96
R6296:Cyp2c29	UTSW	19	39,330,261 (GRCm38)	missense	possibly damaging	0.64
R6365:Cyp2c29	UTSW	19	39,307,754 (GRCm38)	missense	probably damaging	1.00
R6449:Cyp2c29	UTSW	19	39,290,867 (GRCm38)	missense	probably benign	0.05
R6464:Cyp2c29	UTSW	19	39,329,225 (GRCm38)	missense	probably damaging	0.96
R6919:Cyp2c29	UTSW	19	39,291,141 (GRCm38)	missense	probably benign	0.26
R6978:Cyp2c29	UTSW	19	39,321,663 (GRCm38)	missense	probably damaging	1.00
R7038:Cyp2c29	UTSW	19	39,287,127 (GRCm38)	missense	probably benign	0.01
R7040:Cyp2c29	UTSW	19	39,330,337 (GRCm38)	missense	possibly damaging	0.95
R7391:Cyp2c29	UTSW	19	39,307,767 (GRCm38)	missense	probably null	0.98
R8712:Cyp2c29	UTSW	19	39,321,694 (GRCm38)	critical splice donor site	probably benign
R8863:Cyp2c29	UTSW	19	39,273,366 (GRCm38)	missense	probably benign	0.00
R9468:Cyp2c29	UTSW	19	39,307,722 (GRCm38)	missense	probably benign	0.07
X0024:Cyp2c29	UTSW	19	39,321,599 (GRCm38)	missense	probably benign	0.01
Z1176:Cyp2c29	UTSW	19	39,324,997 (GRCm38)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- CTTAGCTGTTAGGAAAATTGTAGGC -3'
(R):5'- AGCCAACCTAGCCTTTGTCC -3'

Sequencing Primer
(F):5'- GTAGGCAAGATATGGTTTAAAACTCC -3'
(R):5'- GTCCTTCAGATTTTCTATTGGCATAG -3'

Posted On

2014-08-25