Mutagenetix > Incidental Mutation

Incidental Mutation 'R6550:Cyp2c67'

521557

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c67

Ensembl Gene

ENSMUSG00000062624

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 67

Synonyms

C730004C24Rik

MMRRC Submission

044675-MU

Accession Numbers

Essential gene?

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

Stock #

R6550 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39608842-39649051 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 39617410 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 347 (Y347*)

Ref Sequence

ENSEMBL: ENSMUSP00000065796 (fasta)

Gene Model

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

AlphaFold

Q569X9

Predicted Effect

probably null
Transcript: ENSMUST00000067328
AA Change: Y347*

SMART Domains

Protein: ENSMUSP00000065796
Gene: ENSMUSG00000062624
AA Change: Y347*

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

0.9712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

98% (39/40)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apbb1ip	A	G	2: 22,858,233 (GRCm38)	D355G	probably damaging	Het
Asz1	T	C	6: 18,051,381 (GRCm38)	D433G	probably damaging	Het
Atl3	A	G	19: 7,522,138 (GRCm38)	T256A	probably benign	Het
Atp8b4	T	A	2: 126,424,193 (GRCm38)	T183S	probably damaging	Het
Bahcc1	C	T	11: 120,276,651 (GRCm38)	H1293Y	possibly damaging	Het
Bin2	A	G	15: 100,645,477 (GRCm38)	V243A	probably benign	Het
Camta1	A	C	4: 151,138,375 (GRCm38)	F908L	probably damaging	Het
Cbx2	T	C	11: 119,029,025 (GRCm38)	V472A	possibly damaging	Het
Cd22	T	C	7: 30,877,552 (GRCm38)	D110G	probably benign	Het
Cfap69	A	T	5: 5,581,220 (GRCm38)	D764E	probably benign	Het
Col2a1	A	G	15: 97,976,793 (GRCm38)	I1321T	unknown	Het
D630044L22Rik	A	T	17: 25,961,654 (GRCm38)	R66S	possibly damaging	Het
Defa27	A	C	8: 21,316,324 (GRCm38)	R46S	possibly damaging	Het
E330034G19Rik	A	G	14: 24,296,818 (GRCm38)	M58V	probably benign	Het
Efhb	G	T	17: 53,421,940 (GRCm38)	H574N	probably benign	Het
Eml2	G	A	7: 19,201,163 (GRCm38)	V432I	probably damaging	Het
Erlin1	A	T	19: 44,037,163 (GRCm38)		probably null	Het
Fam208b	A	G	13: 3,590,519 (GRCm38)	V206A	possibly damaging	Het
Gm10912	C	T	2: 104,066,651 (GRCm38)	T45I	possibly damaging	Het
Gm906	G	A	13: 50,245,446 (GRCm38)	P948L	probably benign	Het
Hsh2d	C	A	8: 72,198,453 (GRCm38)	T156K	probably benign	Het
Lrrc49	G	T	9: 60,677,147 (GRCm38)	Q139K	probably benign	Het
Map3k21	A	G	8: 125,937,292 (GRCm38)	S531G	probably damaging	Het
Marc2	C	A	1: 184,819,342 (GRCm38)	R299L	probably damaging	Het
Mcm2	A	G	6: 88,886,959 (GRCm38)		probably null	Het
Myo9a	T	C	9: 59,868,199 (GRCm38)	F1031S	probably damaging	Het
Olfr107	G	A	17: 37,405,905 (GRCm38)	R119H	probably benign	Het
Olfr136	C	T	17: 38,336,005 (GRCm38)	P283S	possibly damaging	Het
Pmfbp1	T	C	8: 109,520,207 (GRCm38)	V237A	possibly damaging	Het
Polrmt	C	A	10: 79,739,680 (GRCm38)	Q672H	probably damaging	Het
Pp2d1	T	C	17: 53,515,576 (GRCm38)	D154G	probably damaging	Het
Rars	T	C	11: 35,833,183 (GRCm38)	I57V	probably benign	Het
Selplg	G	A	5: 113,820,149 (GRCm38)	P32L	probably benign	Het
Slc8b1	A	G	5: 120,524,017 (GRCm38)	E257G	probably damaging	Het
Tmem161b	C	A	13: 84,222,418 (GRCm38)		probably benign	Het
Tmem87b	T	A	2: 128,824,465 (GRCm38)	H77Q	possibly damaging	Het
Tpr	C	T	1: 150,423,977 (GRCm38)	L1200F	probably damaging	Het
Trir	G	T	8: 85,029,920 (GRCm38)	V154L	probably damaging	Het
Wdfy3	A	G	5: 101,953,166 (GRCm38)	V195A	probably benign	Het
Zdhhc5	T	C	2: 84,696,341 (GRCm38)	I96V	probably benign	Het

Other mutations in Cyp2c67

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00955:Cyp2c67	APN	19	39,643,385 (GRCm38)	missense	possibly damaging	0.95
IGL01025:Cyp2c67	APN	19	39,639,932 (GRCm38)	nonsense	probably null
IGL01363:Cyp2c67	APN	19	39,639,967 (GRCm38)	missense	probably damaging	0.99
IGL01819:Cyp2c67	APN	19	39,615,721 (GRCm38)	missense	probably damaging	0.98
IGL01902:Cyp2c67	APN	19	39,649,026 (GRCm38)	missense	probably damaging	1.00
IGL02172:Cyp2c67	APN	19	39,649,002 (GRCm38)	missense	possibly damaging	0.76
IGL02351:Cyp2c67	APN	19	39,617,417 (GRCm38)	missense	probably damaging	1.00
IGL02355:Cyp2c67	APN	19	39,617,382 (GRCm38)	nonsense	probably null
IGL02355:Cyp2c67	APN	19	39,643,405 (GRCm38)	missense	probably benign	0.34
IGL02358:Cyp2c67	APN	19	39,617,417 (GRCm38)	missense	probably damaging	1.00
IGL02362:Cyp2c67	APN	19	39,617,382 (GRCm38)	nonsense	probably null
IGL02362:Cyp2c67	APN	19	39,643,405 (GRCm38)	missense	probably benign	0.34
IGL02388:Cyp2c67	APN	19	39,643,355 (GRCm38)	missense	probably benign	0.20
IGL03106:Cyp2c67	APN	19	39,643,675 (GRCm38)	missense	probably benign	0.27
IGL03219:Cyp2c67	APN	19	39,643,294 (GRCm38)	missense	possibly damaging	0.54
IGL03326:Cyp2c67	APN	19	39,643,269 (GRCm38)	critical splice donor site	probably null
IGL03349:Cyp2c67	APN	19	39,643,684 (GRCm38)	missense	probably damaging	1.00
IGL03356:Cyp2c67	APN	19	39,639,961 (GRCm38)	missense	probably damaging	1.00
IGL03052:Cyp2c67	UTSW	19	39,648,885 (GRCm38)	missense	possibly damaging	0.88
R0585:Cyp2c67	UTSW	19	39,638,694 (GRCm38)	missense	possibly damaging	0.59
R0975:Cyp2c67	UTSW	19	39,609,178 (GRCm38)	missense	possibly damaging	0.49
R0976:Cyp2c67	UTSW	19	39,643,374 (GRCm38)	missense	probably damaging	1.00
R1252:Cyp2c67	UTSW	19	39,626,141 (GRCm38)	missense	possibly damaging	0.93
R1398:Cyp2c67	UTSW	19	39,638,625 (GRCm38)	missense	probably damaging	0.96
R1411:Cyp2c67	UTSW	19	39,638,591 (GRCm38)	missense	probably damaging	1.00
R1505:Cyp2c67	UTSW	19	39,648,964 (GRCm38)	missense	probably benign	0.00
R1543:Cyp2c67	UTSW	19	39,643,264 (GRCm38)	splice site	probably benign
R1613:Cyp2c67	UTSW	19	39,626,199 (GRCm38)	missense	probably benign	0.00
R1618:Cyp2c67	UTSW	19	39,643,264 (GRCm38)	splice site	probably benign
R1667:Cyp2c67	UTSW	19	39,643,590 (GRCm38)	critical splice donor site	probably null
R1852:Cyp2c67	UTSW	19	39,617,367 (GRCm38)	missense	probably benign	0.01
R2005:Cyp2c67	UTSW	19	39,643,345 (GRCm38)	missense	probably damaging	1.00
R2105:Cyp2c67	UTSW	19	39,626,237 (GRCm38)	missense	probably benign	0.24
R2181:Cyp2c67	UTSW	19	39,609,097 (GRCm38)	missense	possibly damaging	0.94
R3817:Cyp2c67	UTSW	19	39,638,683 (GRCm38)	missense	probably benign	0.00
R4669:Cyp2c67	UTSW	19	39,643,654 (GRCm38)	missense	probably benign	0.00
R4689:Cyp2c67	UTSW	19	39,638,588 (GRCm38)	missense	probably benign	0.00
R4756:Cyp2c67	UTSW	19	39,643,744 (GRCm38)	missense	probably benign	0.03
R4823:Cyp2c67	UTSW	19	39,615,724 (GRCm38)	missense	probably benign	0.13
R5152:Cyp2c67	UTSW	19	39,638,688 (GRCm38)	missense	probably benign	0.00
R5345:Cyp2c67	UTSW	19	39,626,232 (GRCm38)	missense	probably benign	0.01
R5580:Cyp2c67	UTSW	19	39,615,650 (GRCm38)	missense	probably damaging	0.99
R5644:Cyp2c67	UTSW	19	39,615,694 (GRCm38)	missense	possibly damaging	0.84
R6116:Cyp2c67	UTSW	19	39,617,435 (GRCm38)	missense	probably damaging	1.00
R6516:Cyp2c67	UTSW	19	39,617,429 (GRCm38)	missense	probably damaging	1.00
R6939:Cyp2c67	UTSW	19	39,643,334 (GRCm38)	missense	possibly damaging	0.68
R6995:Cyp2c67	UTSW	19	39,615,679 (GRCm38)	missense	probably damaging	0.96
R7028:Cyp2c67	UTSW	19	39,639,897 (GRCm38)	missense	possibly damaging	0.68
R7144:Cyp2c67	UTSW	19	39,615,694 (GRCm38)	missense	probably benign	0.00
R7242:Cyp2c67	UTSW	19	39,617,339 (GRCm38)	missense	probably benign	0.30
R7335:Cyp2c67	UTSW	19	39,640,007 (GRCm38)	nonsense	probably null
R7337:Cyp2c67	UTSW	19	39,609,264 (GRCm38)	splice site	probably null
R7474:Cyp2c67	UTSW	19	39,617,432 (GRCm38)	missense	probably null	0.05
R7642:Cyp2c67	UTSW	19	39,615,640 (GRCm38)	missense	probably damaging	0.97
R7870:Cyp2c67	UTSW	19	39,609,225 (GRCm38)	missense	probably damaging	1.00
R8152:Cyp2c67	UTSW	19	39,640,008 (GRCm38)	missense	probably benign	0.21
R8367:Cyp2c67	UTSW	19	39,638,674 (GRCm38)	missense	probably benign	0.01
R8717:Cyp2c67	UTSW	19	39,638,711 (GRCm38)	missense	probably benign	0.05
R8728:Cyp2c67	UTSW	19	39,626,161 (GRCm38)	missense	probably damaging	1.00
R9275:Cyp2c67	UTSW	19	39,609,255 (GRCm38)	missense	probably damaging	1.00
R9278:Cyp2c67	UTSW	19	39,609,255 (GRCm38)	missense	probably damaging	1.00
R9376:Cyp2c67	UTSW	19	39,638,734 (GRCm38)	missense	probably damaging	1.00
Z1177:Cyp2c67	UTSW	19	39,643,679 (GRCm38)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- AGCTTCTTTCTCAGTGGTGAAC -3'
(R):5'- CCACTTTCTTCATGGCCTAGGTAG -3'

Sequencing Primer
(F):5'- TGGAGAGGACTGGAATCACACTG -3'
(R):5'- CATGGCCTAGGTAGCTGTGC -3'

Posted On

2018-06-06