Mutagenetix > Incidental Mutations

Incidental Mutation 'R0585:Cyp2c67'

261954

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c67

Ensembl Gene

ENSMUSG00000062624

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 67

Synonyms

C730004C24Rik

MMRRC Submission

038775-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R0585 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

39608842-39649051 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39638694 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 231 (N231Y)

Ref Sequence

ENSEMBL: ENSMUSP00000065796 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067328
AA Change: N231Y

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000065796
Gene: ENSMUSG00000062624
AA Change: N231Y

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

Meta Mutation Damage Score

0.1758

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.2%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,550,723	V267A	probably benign	Het
9530003J23Rik	T	A	10: 117,238,451	I44F	possibly damaging	Het
Brdt	T	G	5: 107,356,882		probably null	Het
Ccdc162	C	T	10: 41,586,379	C1474Y	probably benign	Het
Ces2e	T	C	8: 104,929,821	S228P	probably damaging	Het
Clca1	G	T	3: 145,032,625	H41N	probably benign	Het
Cyp2c39	A	T	19: 39,536,759	I169F	probably benign	Het
Cyp2c65	A	G	19: 39,069,242	K107R	probably benign	Het
Eps8l3	G	C	3: 107,881,197	D33H	probably damaging	Het
Evi5	T	C	5: 107,813,536		probably benign	Het
Fcho1	T	C	8: 71,715,725	Y218C	probably damaging	Het
Gm3993	T	A	12: 20,072,148		probably null	Het
Gtf2ird1	A	C	5: 134,376,942	L28R	probably damaging	Het
Hsf4	A	G	8: 105,271,031	D75G	probably damaging	Het
Larp4b	A	G	13: 9,147,493	T249A	probably damaging	Het
Larp4b	A	G	13: 9,170,701	D578G	probably benign	Het
Matn3	A	T	12: 8,961,103		probably benign	Het
Myo10	T	A	15: 25,736,455	Y428N	probably damaging	Het
Nf1	T	A	11: 79,568,701	D661E	probably damaging	Het
Nktr	A	G	9: 121,754,280		probably benign	Het
Npbwr1	G	A	1: 5,916,458	T279I	possibly damaging	Het
Olfr665	A	C	7: 104,881,499	H264P	probably damaging	Het
Osmr	T	C	15: 6,837,793	I341V	probably benign	Het
Pan2	T	C	10: 128,310,515		probably null	Het
Pknox2	G	A	9: 36,909,760		probably benign	Het
Pla2g2d	A	C	4: 138,779,393	D50A	probably benign	Het
Ptprk	C	T	10: 28,575,668	L1051F	probably damaging	Het
Rap1gds1	G	A	3: 139,021,872	T59M	probably benign	Het
Rps5	T	C	7: 12,925,405	V41A	possibly damaging	Het
Ryr1	G	T	7: 29,036,076	D4092E	probably damaging	Het
Spic	T	C	10: 88,676,043	Y117C	probably damaging	Het
Thrap3	A	T	4: 126,178,574		probably null	Het
Tlr9	C	T	9: 106,225,076	T522I	probably benign	Het
Tspan3	A	T	9: 56,145,932		probably benign	Het
Ttn	T	C	2: 76,873,159		probably benign	Het
Zfp773	T	A	7: 7,132,575	I341L	probably benign	Het
Zmat3	G	A	3: 32,361,105	P19S	probably damaging	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
R0975:Cyp2c67	UTSW	19	39609178	missense	possibly damaging	0.49
R0976:Cyp2c67	UTSW	19	39643374	missense	probably damaging	1.00
R1252:Cyp2c67	UTSW	19	39626141	missense	possibly damaging	0.93
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
R7953:Cyp2c67	UTSW	19	39609225	missense	probably damaging	1.00
R8152:Cyp2c67	UTSW	19	39640008	missense	probably benign	0.21
Z1177:Cyp2c67	UTSW	19	39643679	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TGAACTCTACAGTCCATGACAAGTCCA -3'
(R):5'- GGCATCTTGAAGCTCCACATACATCT -3'

Sequencing Primer
(F):5'- AGTCCATGACAAGTCCATAATTTTAG -3'
(R):5'- AAGAAGCTCAGGCATTAGATTTC -3'

Posted On

2015-02-04