Mutagenetix > Incidental Mutations

Incidental Mutation 'R7870:Cyp2c67'

608081

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c67

Ensembl Gene

ENSMUSG00000062624

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 67

Synonyms

C730004C24Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R7870 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39608842-39649051 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 39609225 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 443 (M443R)

Ref Sequence

ENSEMBL: ENSMUSP00000065796 (fasta)

Gene Model

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

AlphaFold

Q569X9

Predicted Effect

probably damaging
Transcript: ENSMUST00000067328
AA Change: M443R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065796
Gene: ENSMUSG00000062624
AA Change: M443R

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,605,643	F171L	probably benign	Het
2410137M14Rik	A	T	17: 36,978,017	C152S	unknown	Het
Alb	T	C	5: 90,472,629	F533L	possibly damaging	Het
Alox12b	T	C	11: 69,169,309	M616T	possibly damaging	Het
Atxn2l	A	G	7: 126,492,752	F968L	probably benign	Het
Cadps2	G	T	6: 23,263,642	H1227Q	probably benign	Het
Cdh18	A	T	15: 23,474,327	D761V	possibly damaging	Het
Cdkl3	T	C	11: 52,018,457		probably null	Het
Chrdl2	T	C	7: 100,010,042	L9P	unknown	Het
Ctr9	A	G	7: 111,052,411	E946G	unknown	Het
Cygb	T	A	11: 116,649,290	T178S	probably benign	Het
Dnah12	A	G	14: 26,856,529	T3082A	probably benign	Het
Flnc	C	T	6: 29,454,307	T1906I	probably damaging	Het
Gm14496	A	G	2: 181,996,113	I327V	probably benign	Het
Gm29106	T	A	1: 118,199,155	N192K	possibly damaging	Het
H3f3a	A	T	1: 180,811,925	M1K	probably null	Het
Htt	T	A	5: 34,898,547	W2601R	possibly damaging	Het
Il18r1	T	A	1: 40,491,136	I341K	probably benign	Het
Kcnj1	G	A	9: 32,396,585	V102I	probably benign	Het
Lrp3	C	A	7: 35,211,497	G41V	probably damaging	Het
Lrrc9	G	T	12: 72,486,190	K944N	probably damaging	Het
Mettl21e	T	A	1: 44,210,211	E95V	probably damaging	Het
Mib1	G	A	18: 10,798,446	R769Q	possibly damaging	Het
Myh7	C	G	14: 54,988,801	D461H	probably damaging	Het
Mymk	A	G	2: 27,062,286	S190P	probably damaging	Het
Neb	G	A	2: 52,325,749	P182L	probably damaging	Het
Nfil3	A	G	13: 52,968,413	Y152H	probably damaging	Het
Nisch	A	G	14: 31,172,095	Y1174H	probably damaging	Het
Nyap1	G	C	5: 137,735,396	Y458*	probably null	Het
Olfr183	G	A	16: 58,999,723	V13I	probably benign	Het
Olfr618	T	A	7: 103,598,266	C317S	probably damaging	Het
Olfr984	A	C	9: 40,100,677	V271G	possibly damaging	Het
Pars2	T	A	4: 106,654,079	Y353N	probably damaging	Het
Patj	G	T	4: 98,424,316	G297V	probably damaging	Het
Pcdh9	A	T	14: 93,887,257	S492R	probably damaging	Het
Pcyox1	G	A	6: 86,392,341	R168C	probably damaging	Het
Plbd1	A	T	6: 136,617,328	Y308N	possibly damaging	Het
Rax	A	G	18: 65,938,213	V117A	probably benign	Het
Rdh9	C	A	10: 127,776,697	N71K	probably benign	Het
Sap130	A	G	18: 31,720,661	N968S	probably benign	Het
Sema5a	A	T	15: 32,609,339	I464F	probably benign	Het
Sez6l	T	G	5: 112,438,581	D683A	probably damaging	Het
Slit2	C	A	5: 48,302,307	P1310T	probably damaging	Het
Snap47	T	C	11: 59,438,078	M133V	probably benign	Het
Son	TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC	TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC	16: 91,656,598		probably benign	Het
Srcap	G	A	7: 127,560,558	S3202N	unknown	Het
Ssh2	T	C	11: 77,453,615	W809R	probably benign	Het
Stau1	G	T	2: 166,950,950	A365D	possibly damaging	Het
Tfpi2	A	G	6: 3,968,281	L15P	probably damaging	Het
Thbs1	A	T	2: 118,115,027	N329I	possibly damaging	Het
Tmem65	A	T	15: 58,787,161	D184E	probably damaging	Het
Trpm6	G	T	19: 18,815,241	E676D	probably benign	Het
Vdr	T	G	15: 97,884,890	D17A	possibly damaging	Het
Vmn1r123	C	T	7: 21,162,267	T28I	probably damaging	Het
Wdr90	A	G	17: 25,860,539	L207P	probably damaging	Het
Zfp354c	TGTCACACTCG	TG	11: 50,815,238		probably benign	Het
Zfp598	A	G	17: 24,679,330	E402G	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
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
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
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'- ACAGCATAGCAGAATCTTTCCTC -3'
(R):5'- AGGGAAAATATGTCTCATCTTTGTG -3'

Sequencing Primer
(F):5'- GCATAGCAGAATCTTTCCTCATCTTC -3'
(R):5'- TTGTGTCTTTGCTTAACTAGATATCC -3'

Posted On

2019-12-20