Mutagenetix > Incidental Mutation

Incidental Mutation 'R6296:Cyp2c29'

508815

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

044407-MU

Accession Numbers

Essential gene?

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

Stock #

R6296 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39269405-39330713 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 39330261 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 434 (I434S)

Ref Sequence

ENSEMBL: ENSMUSP00000003137 (fasta)

Gene Model

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

AlphaFold

Q64458

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003137
AA Change: I434S

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000003137
Gene: ENSMUSG00000003053
AA Change: I434S

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 benign
Transcript: ENSMUST00000176624
AA Change: I395S

PolyPhen 2 Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000135863
Gene: ENSMUSG00000003053
AA Change: I395S

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,683 (GRCm38)	D441G	probably benign	Het
4933427D14Rik	T	C	11: 72,195,754 (GRCm38)	K277R	probably damaging	Het
5730559C18Rik	C	T	1: 136,221,071 (GRCm38)		probably null	Het
Aatf	T	C	11: 84,473,100 (GRCm38)	Y267C	probably benign	Het
Adcy5	A	G	16: 35,303,710 (GRCm38)	Y1253C	probably damaging	Het
Adgra3	G	A	5: 49,960,847 (GRCm38)	P1120S	probably benign	Het
Adm	A	G	7: 110,628,354 (GRCm38)	T26A	probably benign	Het
Ahnak	T	G	19: 9,003,305 (GRCm38)	V651G	probably damaging	Het
Akr7a5	G	A	4: 139,318,221 (GRCm38)	V358I	probably benign	Het
Ankar	T	G	1: 72,643,258 (GRCm38)	T1383P	probably damaging	Het
Bpifb6	G	C	2: 153,906,892 (GRCm38)	K269N	possibly damaging	Het
Cacna1c	T	A	6: 118,652,714 (GRCm38)	T1249S	probably benign	Het
Cacna1c	T	C	6: 118,598,723 (GRCm38)	E1927G	possibly damaging	Het
Cacna1h	G	A	17: 25,383,079 (GRCm38)	R1596C	probably damaging	Het
Cbll1	A	G	12: 31,487,508 (GRCm38)	V415A	probably benign	Het
Cd300lf	C	T	11: 115,124,369 (GRCm38)	V132I	probably benign	Het
Cfap54	T	C	10: 93,066,846 (GRCm38)	Y148C	probably damaging	Het
Coa5	A	G	1: 37,428,347 (GRCm38)	S60P	probably damaging	Het
Col6a2	T	C	10: 76,611,049 (GRCm38)	N342D	probably damaging	Het
Ddx11	G	A	17: 66,150,729 (GRCm38)		probably null	Het
Dgke	C	T	11: 89,040,749 (GRCm38)	V560I	probably benign	Het
Dusp16	C	A	6: 134,720,493 (GRCm38)		probably null	Het
Enpp4	G	T	17: 44,102,480 (GRCm38)	N54K	probably benign	Het
Epn1	G	A	7: 5,090,123 (GRCm38)	A145T	probably damaging	Het
Erc2	A	T	14: 28,080,155 (GRCm38)	K764M	probably damaging	Het
Ercc6	G	T	14: 32,526,403 (GRCm38)	E304*	probably null	Het
Fam117a	T	A	11: 95,364,145 (GRCm38)	C115S	possibly damaging	Het
Galntl5	T	C	5: 25,186,165 (GRCm38)	S21P	probably benign	Het
Gm6358	T	C	16: 89,141,082 (GRCm38)	S70P	unknown	Het
Grip1	C	T	10: 120,075,464 (GRCm38)	Q696*	probably null	Het
Haus5	C	T	7: 30,658,976 (GRCm38)	W298*	probably null	Het
Hsfy2	T	A	1: 56,637,192 (GRCm38)	H62L	probably benign	Het
Ighm	T	C	12: 113,421,567 (GRCm38)	I258V	unknown	Het
Igkv13-71-1	G	T	6: 69,235,799 (GRCm38)		noncoding transcript	Het
Irx1	A	C	13: 71,959,668 (GRCm38)	S298R	probably damaging	Het
Jarid2	T	A	13: 44,903,063 (GRCm38)	Y443N	possibly damaging	Het
Kcnc1	G	A	7: 46,435,316 (GRCm38)	A555T	probably benign	Het
Krtap4-6	T	A	11: 99,665,419 (GRCm38)	R161*	probably null	Het
Lipo1	T	C	19: 33,780,337 (GRCm38)	D244G	probably benign	Het
Lmo2	T	G	2: 103,970,601 (GRCm38)	V39G	possibly damaging	Het
Lrch2	C	T	X: 147,480,557 (GRCm38)	A369T	probably damaging	Homo
Macf1	A	T	4: 123,432,875 (GRCm38)	I4943N	probably damaging	Het
Mkx	A	T	18: 7,000,591 (GRCm38)		probably null	Het
Nek1	C	T	8: 61,072,309 (GRCm38)	Q594*	probably null	Het
Nipbl	T	C	15: 8,300,895 (GRCm38)	M2349V	possibly damaging	Het
Nup155	T	A	15: 8,153,155 (GRCm38)	C1201S	probably damaging	Het
Olfr1249	G	A	2: 89,630,631 (GRCm38)	T89I	probably damaging	Het
Olfr1373	C	A	11: 52,144,596 (GRCm38)	R311S	probably benign	Het
Olfr209	T	C	16: 59,361,406 (GRCm38)	K271E	probably benign	Het
Osbpl1a	A	G	18: 12,819,503 (GRCm38)		probably null	Het
Pbx1	T	C	1: 168,183,615 (GRCm38)	D372G	possibly damaging	Het
Pikfyve	T	A	1: 65,262,953 (GRCm38)	S1668T	probably damaging	Het
Pitpnc1	T	C	11: 107,226,266 (GRCm38)	H193R	probably damaging	Het
Plag1	G	T	4: 3,904,499 (GRCm38)	H231N	probably damaging	Het
Prmt8	A	G	6: 127,711,804 (GRCm38)	I201T	probably damaging	Het
Ptpn23	A	T	9: 110,393,826 (GRCm38)	N54K	probably damaging	Het
Rab11fip4	T	C	11: 79,690,829 (GRCm38)		probably null	Het
Rassf9	T	A	10: 102,545,753 (GRCm38)	I332N	probably damaging	Het
Rgs9	T	C	11: 109,268,987 (GRCm38)	N173S	probably benign	Het
Rhbdl1	A	G	17: 25,834,969 (GRCm38)	L309P	probably damaging	Het
Rnf214	A	G	9: 45,867,821 (GRCm38)	S389P	probably benign	Het
Rxfp1	A	C	3: 79,667,848 (GRCm38)	L181R	probably damaging	Het
Sfxn1	C	T	13: 54,093,880 (GRCm38)	T208I	probably benign	Het
Sgo2b	C	T	8: 63,927,793 (GRCm38)	M668I	probably benign	Het
Sh3bp4	C	A	1: 89,145,489 (GRCm38)	S686R	probably damaging	Het
Spata31d1d	G	A	13: 59,728,464 (GRCm38)	T419I	possibly damaging	Het
Spink5	T	C	18: 44,014,757 (GRCm38)	S857P	probably damaging	Het
Stard13	A	T	5: 151,062,673 (GRCm38)	S339R	probably damaging	Het
Stk35	T	A	2: 129,810,888 (GRCm38)	Y436*	probably null	Het
Supt6	C	T	11: 78,226,059 (GRCm38)	R589Q	possibly damaging	Het
Tinag	T	A	9: 76,996,935 (GRCm38)	E402V	possibly damaging	Het
Tmem183a	T	C	1: 134,361,611 (GRCm38)	D27G	probably damaging	Het
Tnfrsf13c	T	C	15: 82,223,902 (GRCm38)	T56A	probably damaging	Het
Tnrc18	A	C	5: 142,733,576 (GRCm38)	L1985R	unknown	Het
Ttn	G	A	2: 76,749,329 (GRCm38)	T23740M	probably damaging	Het
Ufl1	G	T	4: 25,270,572 (GRCm38)	Q215K	probably benign	Het
Unkl	T	C	17: 25,231,865 (GRCm38)	*232R	probably null	Het
Wnk4	A	T	11: 101,273,998 (GRCm38)	N718Y	probably damaging	Het
Xkr4	T	C	1: 3,216,570 (GRCm38)	T466A	probably benign	Het
Zfp451	T	A	1: 33,769,817 (GRCm38)	K988*	probably null	Het
Zfp503	G	C	14: 21,985,800 (GRCm38)	Y349*	probably null	Het
Zfp990	T	A	4: 145,538,103 (GRCm38)	F557Y	possibly 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
R1981:Cyp2c29	UTSW	19	39,307,772 (GRCm38)	splice site	probably null
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
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'- TGAGTCTCCCAGGCAGTTTG -3'
(R):5'- TTGTAGAAGGCATCACAGCAG -3'

Sequencing Primer
(F):5'- AATTCTCACGATTATGTTTGCTGG -3'
(R):5'- ATCACAGCAGGGGCCAG -3'

Posted On

2018-04-02