Mutagenetix > Incidental Mutation

Incidental Mutation 'R7242:Cyp2c67'

563322

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c67

Ensembl Gene

ENSMUSG00000062624

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 67

Synonyms

C730004C24Rik

MMRRC Submission

045349-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R7242 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39608842-39649051 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 39617339 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 371 (T371N)

Ref Sequence

ENSEMBL: ENSMUSP00000065796 (fasta)

Gene Model

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

AlphaFold

Q569X9

Predicted Effect

probably benign
Transcript: ENSMUST00000067328
AA Change: T371N

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000065796
Gene: ENSMUSG00000062624
AA Change: T371N

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

0.5544

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (73/73)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	A	T	6: 48,931,128	Y354F	probably damaging	Het
1700001J03Rik	A	T	5: 146,184,867	I74N	probably damaging	Het
4921501E09Rik	A	G	17: 33,067,127	Y234H	probably damaging	Het
Abca6	A	T	11: 110,241,653	V272D	possibly damaging	Het
Acot11	A	T	4: 106,762,493	S163R	probably benign	Het
Adcy5	T	C	16: 35,156,835	L246P	probably damaging	Het
Adgra1	A	T	7: 139,847,657		probably null	Het
Adgra2	A	G	8: 27,122,027	T1335A	probably damaging	Het
Armt1	T	C	10: 4,453,475	S187P	probably damaging	Het
Azin1	T	C	15: 38,501,505	M1V	probably null	Het
B430305J03Rik	C	T	3: 61,363,835	C163Y	unknown	Het
Cables1	T	C	18: 11,840,007	S68P	possibly damaging	Het
Cacna1d	A	G	14: 30,178,706	F341L	probably benign	Het
Ccdc90b	T	A	7: 92,572,568	H118Q	probably damaging	Het
Celf1	T	A	2: 91,003,257	C119*	probably null	Het
Cfap57	C	T	4: 118,593,096	V610M	possibly damaging	Het
Chrm4	T	A	2: 91,927,250	M1K	probably null	Het
Chrnd	C	T	1: 87,197,479	T418I	probably damaging	Het
Coch	G	T	12: 51,593,561		probably benign	Het
Cop1	A	G	1: 159,284,548	T345A	probably benign	Het
Cops6	A	G	5: 138,163,580	T96A	probably benign	Het
Corin	T	C	5: 72,305,055	I945V	probably benign	Het
Dap	T	A	15: 31,273,308	*103R	probably null	Het
Defb35	T	A	8: 21,940,757	V49E	unknown	Het
Dmtf1	T	A	5: 9,149,016	D39V	possibly damaging	Het
Dmtn	T	C	14: 70,618,020	T10A	probably damaging	Het
Dnajc1	C	T	2: 18,293,972	E264K	probably benign	Het
Dtx3l	A	T	16: 35,933,401	N278K	possibly damaging	Het
Fam161a	T	A	11: 23,020,037	S72T	possibly damaging	Het
Fnbp4	T	A	2: 90,745,796	S114T	unknown	Het
Focad	T	G	4: 88,309,906	I784S	unknown	Het
Fzd8	A	T	18: 9,214,171	T418S	probably damaging	Het
Gclc	A	G	9: 77,785,371	Y264C	probably benign	Het
Ggn	G	A	7: 29,173,034	C649Y	possibly damaging	Het
Gm10184	G	A	17: 89,910,135	T61I	probably benign	Het
Gys1	A	G	7: 45,439,668		probably null	Het
Hsd3b1	T	C	3: 98,853,210	Y155C	probably damaging	Het
Htatip2	A	G	7: 49,772,606	K191E	probably benign	Het
Ik	A	T	18: 36,748,222	S79C	probably null	Het
Kin	G	A	2: 10,091,793	R151Q	probably benign	Het
Mast4	A	G	13: 102,738,478	S1461P	probably damaging	Het
Melk	T	A	4: 44,360,885	V555E	probably damaging	Het
Met	G	A	6: 17,491,317	C26Y	probably damaging	Het
Mfsd6	A	T	1: 52,709,474	F77L	probably damaging	Het
Mib1	T	A	18: 10,741,011	D86E	probably damaging	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Olfr1120	G	A	2: 87,358,082	V213I	probably benign	Het
Olfr1352	A	T	10: 78,984,497	K236*	probably null	Het
Olfr504	T	G	7: 108,565,712	S28R	probably benign	Het
Olfr935	A	G	9: 38,995,141	I98T	probably benign	Het
Patj	A	T	4: 98,591,933	I1296L	probably benign	Het
Pcdh1	C	T	18: 38,203,217	V122M	probably benign	Het
Pcdhac2	A	T	18: 37,144,893	I309F	possibly damaging	Het
Phtf1	A	G	3: 103,998,696	S565G	probably damaging	Het
Plekha2	A	C	8: 25,088,395	F30V	probably damaging	Het
Ptbp1	A	G	10: 79,856,388	M20V	unknown	Het
Pth2r	A	G	1: 65,388,620	D484G	probably benign	Het
Rapgef2	G	A	3: 79,087,903	Q665*	probably null	Het
Scamp1	G	A	13: 94,233,140	T59I	probably benign	Het
Sema4a	T	A	3: 88,450,109	D230V	probably damaging	Het
Snw1	C	T	12: 87,468,645	G45R	possibly damaging	Het
Sox30	T	A	11: 45,984,520		probably null	Het
Sspo	T	A	6: 48,473,952	I2665K	probably benign	Het
Stx5a	T	A	19: 8,755,277	W437R	unknown	Het
Tln1	A	G	4: 43,542,602	V1402A	probably benign	Het
Tpm1	A	G	9: 67,028,101	L244P	probably benign	Het
Try5	T	A	6: 41,313,454	E32V	probably benign	Het
Ttn	T	C	2: 76,721,729	N31188S	probably benign	Het
Tulp1	T	C	17: 28,363,405		probably null	Het
Usp13	T	G	3: 32,865,743		probably null	Het
Vax2	A	G	6: 83,711,316	E7G	possibly damaging	Het
Vmn2r45	A	T	7: 8,485,613	Y139*	probably null	Het
Wisp2	T	C	2: 163,828,852	F93S	probably benign	Het
Zfp423	T	C	8: 87,904,527	D21G	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
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
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'- GATTGCTACTACCATGTCCCTG -3'
(R):5'- GTGCATTTATGGGAGATACAGGC -3'

Sequencing Primer
(F):5'- ACCATGTCCCTGCCTCATTATAG -3'
(R):5'- GGGAGATACAGGCTACATTTTTCCC -3'

Posted On

2019-06-26