Mutagenetix > Incidental Mutations

Incidental Mutation 'R1252:Cyp2c67'

151826

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c67

Ensembl Gene

ENSMUSG00000062624

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 67

Synonyms

C730004C24Rik

MMRRC Submission

039319-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R1252 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39608842-39649051 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39626141 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 314 (M314T)

Ref Sequence

ENSEMBL: ENSMUSP00000065796 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067328]

AlphaFold

Q569X9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067328
AA Change: M314T

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000065796
Gene: ENSMUSG00000062624
AA Change: M314T

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:p450	30	487	8.5e-150	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 123,962,052	G495D	probably damaging	Het
Acsm2	C	T	7: 119,573,245	H104Y	probably benign	Het
Adgrb3	G	A	1: 25,128,828	T1009M	probably damaging	Het
Arfgef2	A	G	2: 166,859,957	K755E	probably damaging	Het
Atm	A	T	9: 53,455,840	D2491E	probably damaging	Het
Bptf	A	G	11: 107,073,251	S1706P	probably benign	Het
Capn13	C	T	17: 73,367,227	G77D	possibly damaging	Het
Ccdc39	T	C	3: 33,826,480	K446R	probably damaging	Het
Cep135	A	G	5: 76,594,115	K133E	possibly damaging	Het
Dennd5b	T	C	6: 149,044,487	D542G	probably damaging	Het
Dpys	A	T	15: 39,824,240	N387K	probably damaging	Het
Erc1	A	T	6: 119,743,392	D749E	possibly damaging	Het
Gm281	T	C	14: 13,862,444	D370G	probably benign	Het
Gucy2e	A	T	11: 69,235,659	F298L	probably benign	Het
Igsf10	A	G	3: 59,331,848	V304A	probably benign	Het
Kmt2b	A	T	7: 30,580,487	C1363S	probably damaging	Het
Krt83	A	G	15: 101,487,830	Y295H	probably damaging	Het
Lmo7	T	C	14: 101,900,583	V396A	probably damaging	Het
Lpl	A	G	8: 68,892,659	D105G	probably benign	Het
Lrrc45	C	A	11: 120,715,471	T135N	probably benign	Het
Ltn1	C	T	16: 87,416,030	A548T	probably benign	Het
Nectin2	T	G	7: 19,717,598	I504L	probably benign	Het
Nmbr	T	C	10: 14,760,443	I52T	probably benign	Het
Nop14	A	T	5: 34,650,555	N354K	probably benign	Het
Olfm1	A	G	2: 28,229,435	I361V	probably benign	Het
Olfr1537	G	C	9: 39,238,251	P58A	probably benign	Het
Ovol1	T	C	19: 5,553,601	T91A	probably benign	Het
Pigz	T	A	16: 31,941,990	V3E	possibly damaging	Het
Pip4k2b	T	C	11: 97,744,594	N4S	probably benign	Het
Pqlc1	A	G	18: 80,291,598	T211A	possibly damaging	Het
Slc23a2	A	T	2: 132,062,197		probably null	Het
Speg	A	T	1: 75,427,095	D2640V	probably damaging	Het
Trip12	G	A	1: 84,776,350	Q111*	probably null	Het
Trub2	A	G	2: 29,782,158	F141S	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Wdfy4	A	T	14: 32,971,772		probably null	Het
Zfp935	A	G	13: 62,454,541	F282L	probably damaging	Het
Zfp946	G	T	17: 22,453,579		probably null	Het
Zkscan4	A	G	13: 21,483,874	E165G	probably benign	Het

Other mutations in Cyp2c67

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00955:Cyp2c67	APN	19	39643385	missense	possibly damaging	0.95
IGL01025:Cyp2c67	APN	19	39639932	nonsense	probably null
IGL01363:Cyp2c67	APN	19	39639967	missense	probably damaging	0.99
IGL01819:Cyp2c67	APN	19	39615721	missense	probably damaging	0.98
IGL01902:Cyp2c67	APN	19	39649026	missense	probably damaging	1.00
IGL02172:Cyp2c67	APN	19	39649002	missense	possibly damaging	0.76
IGL02351:Cyp2c67	APN	19	39617417	missense	probably damaging	1.00
IGL02355:Cyp2c67	APN	19	39643405	missense	probably benign	0.34
IGL02355:Cyp2c67	APN	19	39617382	nonsense	probably null
IGL02358:Cyp2c67	APN	19	39617417	missense	probably damaging	1.00
IGL02362:Cyp2c67	APN	19	39643405	missense	probably benign	0.34
IGL02362:Cyp2c67	APN	19	39617382	nonsense	probably null
IGL02388:Cyp2c67	APN	19	39643355	missense	probably benign	0.20
IGL03106:Cyp2c67	APN	19	39643675	missense	probably benign	0.27
IGL03219:Cyp2c67	APN	19	39643294	missense	possibly damaging	0.54
IGL03326:Cyp2c67	APN	19	39643269	critical splice donor site	probably null
IGL03349:Cyp2c67	APN	19	39643684	missense	probably damaging	1.00
IGL03356:Cyp2c67	APN	19	39639961	missense	probably damaging	1.00
IGL03052:Cyp2c67	UTSW	19	39648885	missense	possibly damaging	0.88
R0585:Cyp2c67	UTSW	19	39638694	missense	possibly damaging	0.59
R0975:Cyp2c67	UTSW	19	39609178	missense	possibly damaging	0.49
R0976:Cyp2c67	UTSW	19	39643374	missense	probably damaging	1.00
R1398:Cyp2c67	UTSW	19	39638625	missense	probably damaging	0.96
R1411:Cyp2c67	UTSW	19	39638591	missense	probably damaging	1.00
R1505:Cyp2c67	UTSW	19	39648964	missense	probably benign	0.00
R1543:Cyp2c67	UTSW	19	39643264	splice site	probably benign
R1613:Cyp2c67	UTSW	19	39626199	missense	probably benign	0.00
R1618:Cyp2c67	UTSW	19	39643264	splice site	probably benign
R1667:Cyp2c67	UTSW	19	39643590	critical splice donor site	probably null
R1852:Cyp2c67	UTSW	19	39617367	missense	probably benign	0.01
R2005:Cyp2c67	UTSW	19	39643345	missense	probably damaging	1.00
R2105:Cyp2c67	UTSW	19	39626237	missense	probably benign	0.24
R2181:Cyp2c67	UTSW	19	39609097	missense	possibly damaging	0.94
R3817:Cyp2c67	UTSW	19	39638683	missense	probably benign	0.00
R4669:Cyp2c67	UTSW	19	39643654	missense	probably benign	0.00
R4689:Cyp2c67	UTSW	19	39638588	missense	probably benign	0.00
R4756:Cyp2c67	UTSW	19	39643744	missense	probably benign	0.03
R4823:Cyp2c67	UTSW	19	39615724	missense	probably benign	0.13
R5152:Cyp2c67	UTSW	19	39638688	missense	probably benign	0.00
R5345:Cyp2c67	UTSW	19	39626232	missense	probably benign	0.01
R5580:Cyp2c67	UTSW	19	39615650	missense	probably damaging	0.99
R5644:Cyp2c67	UTSW	19	39615694	missense	possibly damaging	0.84
R6116:Cyp2c67	UTSW	19	39617435	missense	probably damaging	1.00
R6516:Cyp2c67	UTSW	19	39617429	missense	probably damaging	1.00
R6550:Cyp2c67	UTSW	19	39617410	nonsense	probably null
R6939:Cyp2c67	UTSW	19	39643334	missense	possibly damaging	0.68
R6995:Cyp2c67	UTSW	19	39615679	missense	probably damaging	0.96
R7028:Cyp2c67	UTSW	19	39639897	missense	possibly damaging	0.68
R7144:Cyp2c67	UTSW	19	39615694	missense	probably benign	0.00
R7242:Cyp2c67	UTSW	19	39617339	missense	probably benign	0.30
R7335:Cyp2c67	UTSW	19	39640007	nonsense	probably null
R7337:Cyp2c67	UTSW	19	39609264	splice site	probably null
R7474:Cyp2c67	UTSW	19	39617432	missense	probably null	0.05
R7642:Cyp2c67	UTSW	19	39615640	missense	probably damaging	0.97
R7870:Cyp2c67	UTSW	19	39609225	missense	probably damaging	1.00
R8152:Cyp2c67	UTSW	19	39640008	missense	probably benign	0.21
R8367:Cyp2c67	UTSW	19	39638674	missense	probably benign	0.01
R8717:Cyp2c67	UTSW	19	39638711	missense	probably benign	0.05
R8728:Cyp2c67	UTSW	19	39626161	missense	probably damaging	1.00
R9275:Cyp2c67	UTSW	19	39609255	missense	probably damaging	1.00
R9278:Cyp2c67	UTSW	19	39609255	missense	probably damaging	1.00
R9376:Cyp2c67	UTSW	19	39638734	missense	probably damaging	1.00
Z1177:Cyp2c67	UTSW	19	39643679	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- AGTACTGGCCTTGATGGCTTTTCAAC -3'
(R):5'- GACCATCTACACCACAGTCTCTGAAATG -3'

Sequencing Primer
(F):5'- ATGGCTTTTCAACTGCTCAGG -3'
(R):5'- CCACAGTCTCTGAAATGGTATAAATG -3'

Posted On

2014-01-29