Mutagenetix > Incidental Mutation

Incidental Mutation 'R4756:Cyp2c67'

358056

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c67

Ensembl Gene

ENSMUSG00000062624

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 67

Synonyms

C730004C24Rik

MMRRC Submission

041972-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R4756 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39608842-39649051 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 39643744 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 60 (T60I)

Ref Sequence

ENSEMBL: ENSMUSP00000065796 (fasta)

Gene Model

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

AlphaFold

Q569X9

Predicted Effect

probably benign
Transcript: ENSMUST00000067328
AA Change: T60I

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000065796
Gene: ENSMUSG00000062624
AA Change: T60I

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,264,028	L122H	probably damaging	Het
4930550C14Rik	A	T	9: 53,425,530	M45L	probably benign	Het
Acss2	T	C	2: 155,561,143	F627L	probably damaging	Het
Akap8	A	G	17: 32,316,210	S277P	probably damaging	Het
Akap9	T	A	5: 4,001,418	M1395K	probably damaging	Het
Ank1	A	G	8: 23,122,877	D1468G	probably benign	Het
Apoe	A	G	7: 19,696,921	V121A	probably benign	Het
Aqp9	A	T	9: 71,163,049	L12H	probably damaging	Het
Atp2b4	G	A	1: 133,711,791	A1115V	probably benign	Het
Atp2b4	G	A	1: 133,739,396	P139L	probably benign	Het
B430218F22Rik	T	C	13: 118,387,444		probably benign	Het
Brsk1	A	G	7: 4,708,867	E572G	possibly damaging	Het
C130060K24Rik	T	C	6: 65,452,914	I198T	probably benign	Het
C6	T	C	15: 4,781,912	I414T	probably benign	Het
C8b	T	A	4: 104,786,886	M250K	probably benign	Het
Camk1g	T	A	1: 193,362,085	E7V	probably benign	Het
Clcc1	A	G	3: 108,672,920		probably null	Het
Col4a3	G	T	1: 82,716,297		probably null	Het
Cox5b	T	A	1: 36,693,229	W104R	probably damaging	Het
Cyp2c55	A	C	19: 39,031,371	H251P	probably damaging	Het
Defb42	T	A	14: 63,048,375	V68E	probably benign	Het
Ercc4	T	A	16: 13,123,423	I225N	probably damaging	Het
Fam120b	G	T	17: 15,402,396	C212F	probably damaging	Het
Fgf10	T	C	13: 118,781,509	V111A	probably benign	Het
Fn1	G	T	1: 71,590,808	T2186K	probably damaging	Het
Fras1	T	C	5: 96,781,659	V3974A	probably benign	Het
Galnt4	T	C	10: 99,108,500	V29A	probably benign	Het
Gpr26	T	C	7: 131,967,501	Y192H	probably damaging	Het
Heatr9	A	T	11: 83,516,649	L236Q	probably damaging	Het
Hivep3	C	A	4: 120,097,823	P1112H	probably damaging	Het
Hnf4g	A	G	3: 3,643,009	Y106C	possibly damaging	Het
Hnrnpdl	A	T	5: 100,037,924	Y69*	probably null	Het
Itgb1	G	A	8: 128,717,222	A320T	probably damaging	Het
Kcna2	T	C	3: 107,105,417	I438T	probably benign	Het
Kif24	A	G	4: 41,397,545		probably null	Het
Klhl1	G	A	14: 96,151,966	T584I	probably benign	Het
Ltbp1	A	G	17: 75,225,204	D91G	probably damaging	Het
Mdga2	T	C	12: 66,797,653	I190M	probably damaging	Het
Meis2	G	A	2: 116,000,205	R276C	probably damaging	Het
Mob4	C	T	1: 55,152,696	R190W	probably damaging	Het
Mrgpra2a	A	G	7: 47,427,366	I48T	possibly damaging	Het
Mst1	T	C	9: 108,083,627	V481A	probably benign	Het
Mttp	A	T	3: 138,116,071	V245E	possibly damaging	Het
Nbn	T	A	4: 15,981,470	S521T	probably benign	Het
Neb	G	T	2: 52,193,231	T5654N	probably damaging	Het
Nlrp9a	A	T	7: 26,557,441	K161N	probably damaging	Het
Nod2	T	G	8: 88,664,274	F388C	possibly damaging	Het
Olfr1248	G	T	2: 89,617,470	H241N	possibly damaging	Het
Olfr1311	A	G	2: 112,020,987	F289S	possibly damaging	Het
Olfr1354	T	A	10: 78,917,527	I229N	probably damaging	Het
Olfr410	G	T	11: 74,334,576	F218L	probably benign	Het
Olfr589	A	T	7: 103,155,125	N207K	probably benign	Het
Olfr843	G	A	9: 19,248,857	L181F	possibly damaging	Het
P2ry1	A	G	3: 61,004,477	S346G	probably benign	Het
Prkcd	A	G	14: 30,599,666	F524L	probably benign	Het
Ramp3	A	T	11: 6,674,843	M46L	probably benign	Het
Rint1	T	C	5: 23,809,793	Y278H	probably damaging	Het
Skint11	C	T	4: 114,194,677	T74I	probably benign	Het
Slc10a7	T	C	8: 78,706,950		probably null	Het
Slc45a2	T	A	15: 11,027,930	Y528*	probably null	Het
Slit1	A	G	19: 41,649,013	F329L	probably damaging	Het
Sltm	A	T	9: 70,591,610	M989L	possibly damaging	Het
Smad9	A	T	3: 54,794,453	T372S	possibly damaging	Het
Snrpc	T	A	17: 27,842,332	Y38*	probably null	Het
Spag17	A	G	3: 100,103,385	K2065R	possibly damaging	Het
Stxbp4	T	A	11: 90,607,371	K87N	probably damaging	Het
Tbc1d23	AT	ATT	16: 57,198,895		probably null	Het
Tgfb1i1	A	T	7: 128,249,399	M96L	probably damaging	Het
Tnc	T	A	4: 63,967,343	I1841F	probably damaging	Het
Twistnb	T	A	12: 33,437,680		probably null	Het
Ubap2	G	T	4: 41,211,771	H63Q	probably damaging	Het
Vps13a	T	C	19: 16,655,216	N2592S	probably benign	Het
Xdh	G	A	17: 73,886,386	P1305L	probably benign	Het
Xrn1	G	A	9: 96,039,809	R1425K	probably benign	Het
Zfp418	G	A	7: 7,182,763	R575Q	possibly damaging	Het
Zfp608	T	A	18: 54,894,472	Q1424H	probably damaging	Het
Zfp839	C	A	12: 110,855,201	L150I	possibly 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
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'- AGCTTGCTCTGGAAACTGCC -3'
(R):5'- CTGGCATACTGTAAACCATGAATAC -3'

Sequencing Primer
(F):5'- TGGAAACTGCCCAGTATACACATAAG -3'
(R):5'- GACTTTAAACTGAGGTTTTCTG -3'

Posted On

2015-11-11