Mutagenetix > Incidental Mutation

Incidental Mutation 'R9468:Cyp2c70'

715316

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c70

Ensembl Gene

ENSMUSG00000060613

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 70

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

R9468 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40141805-40175730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40168889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 133 (S133P)

Ref Sequence

ENSEMBL: ENSMUSP00000060584 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051846] [ENSMUST00000165102] [ENSMUST00000171604]

AlphaFold

Q91W64

Predicted Effect

probably damaging
Transcript: ENSMUST00000051846
AA Change: S133P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000060584
Gene: ENSMUSG00000060613
AA Change: S133P

Domain	Start	End	E-Value	Type
Pfam:p450	30	486	2.1e-158	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165102

SMART Domains

Protein: ENSMUSP00000128691
Gene: ENSMUSG00000060613

Domain	Start	End	E-Value	Type
PDB:4GQS\|D	25	54	4e-12	PDB
SCOP:d1cpt__	26	54	7e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171604

SMART Domains

Protein: ENSMUSP00000129063
Gene: ENSMUSG00000060613

Domain	Start	End	E-Value	Type
PDB:4GQS\|D	25	50	4e-10	PDB
SCOP:d1cpt__	26	54	2e-7	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	T	A	1: 161,784,736 (GRCm39)	N68Y	probably damaging	Het
Acsf3	A	T	8: 123,539,769 (GRCm39)	I466F	probably damaging	Het
Akr1b7	T	C	6: 34,392,316 (GRCm39)	I43T	probably benign	Het
Alyref	T	A	11: 120,486,790 (GRCm39)	D157V	probably damaging	Het
Anapc2	T	C	2: 25,163,132 (GRCm39)	L123P	possibly damaging	Het
Catsperg2	A	T	7: 29,409,432 (GRCm39)		probably null	Het
Ccz1	G	T	5: 143,929,438 (GRCm39)	T330K	probably benign	Het
Chordc1	T	A	9: 18,213,425 (GRCm39)	F92Y	probably benign	Het
Cyp2c29	A	T	19: 39,296,166 (GRCm39)	D199V	probably benign	Het
Dync1li2	G	A	8: 105,147,258 (GRCm39)	P479S	probably benign	Het
Fcmr	G	T	1: 130,801,951 (GRCm39)	K68N	possibly damaging	Het
Frmpd2	T	A	14: 33,266,432 (GRCm39)	D949E	possibly damaging	Het
Fscn2	A	G	11: 120,253,283 (GRCm39)	E250G	probably damaging	Het
Grk2	A	T	19: 4,344,952 (GRCm39)	I39N	probably damaging	Het
Hmmr	T	A	11: 40,614,314 (GRCm39)	R125*	probably null	Het
Jarid2	T	A	13: 45,073,306 (GRCm39)	C1195S	probably damaging	Het
Kcnq4	A	T	4: 120,568,494 (GRCm39)	D407E	probably benign	Het
Kif24	A	T	4: 41,404,794 (GRCm39)	I402N	probably damaging	Het
Kmt2b	A	G	7: 30,284,513 (GRCm39)	V793A	probably damaging	Het
Kntc1	T	C	5: 123,954,776 (GRCm39)	Y2065H	probably damaging	Het
Krt5	C	A	15: 101,615,980 (GRCm39)	S545I	unknown	Het
Larp1b	A	T	3: 40,930,990 (GRCm39)	I290L	probably benign	Het
Lnx2	C	T	5: 146,979,289 (GRCm39)		probably benign	Het
Lonrf2	A	G	1: 38,839,839 (GRCm39)	S419P	probably damaging	Het
Lrrc19	A	T	4: 94,526,521 (GRCm39)	D345E	probably benign	Het
Micu3	T	A	8: 40,807,422 (GRCm39)	L251*	probably null	Het
Mucl1	G	T	15: 103,784,035 (GRCm39)	T57N	possibly damaging	Het
Myh8	C	T	11: 67,197,730 (GRCm39)	R1866W	probably damaging	Het
Ndc80	G	A	17: 71,806,306 (GRCm39)	Q583*	probably null	Het
Nrap	G	A	19: 56,330,632 (GRCm39)	T1143I	possibly damaging	Het
Nrde2	A	G	12: 100,106,268 (GRCm39)	V523A	probably benign	Het
Or12e9	T	A	2: 87,202,116 (GRCm39)	V80E	probably damaging	Het
Or2at4	A	T	7: 99,385,180 (GRCm39)	I277F	possibly damaging	Het
Or4c11	C	T	2: 88,695,795 (GRCm39)	P282L	possibly damaging	Het
Or5p70	C	T	7: 107,994,849 (GRCm39)	P174L	possibly damaging	Het
Pcdhb16	T	A	18: 37,611,482 (GRCm39)	S147R	probably damaging	Het
Phf21b	T	C	15: 84,689,299 (GRCm39)	T76A	probably damaging	Het
Pknox2	A	G	9: 36,822,495 (GRCm39)	V218A	probably benign	Het
Plekhg3	C	T	12: 76,607,009 (GRCm39)	T23I	probably damaging	Het
Ptprb	A	G	10: 116,113,274 (GRCm39)	T85A	probably benign	Het
Ptprc	A	G	1: 138,044,754 (GRCm39)	L36P	probably benign	Het
Rasgrf1	A	G	9: 89,880,756 (GRCm39)	Q834R	probably benign	Het
Rnft1	G	A	11: 86,381,242 (GRCm39)	V211I	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Ryr1	G	A	7: 28,772,510 (GRCm39)	L2468F	probably damaging	Het
Scaf4	C	T	16: 90,026,287 (GRCm39)	A1177T	unknown	Het
Sec14l3	A	G	11: 4,025,200 (GRCm39)	Y270C	probably damaging	Het
Serpind1	A	T	16: 17,154,179 (GRCm39)	K2I	possibly damaging	Het
Slc6a20b	A	G	9: 123,439,416 (GRCm39)	S138P	probably damaging	Het
Son	T	A	16: 91,454,439 (GRCm39)	M1062K	possibly damaging	Het
Sorl1	T	C	9: 42,035,384 (GRCm39)	E9G	probably benign	Het
Spmip9	T	C	6: 70,890,627 (GRCm39)	Q55R	probably benign	Het
Stx16	T	C	2: 173,933,327 (GRCm39)	L102P	probably damaging	Het
Syt12	A	T	19: 4,497,744 (GRCm39)	S413T	probably damaging	Het
Tie1	A	G	4: 118,333,376 (GRCm39)	L830P	probably damaging	Het
Tmem156	C	T	5: 65,237,531 (GRCm39)	R43K	probably damaging	Het
Tnfrsf19	A	G	14: 61,261,623 (GRCm39)	S59P	possibly damaging	Het
Tpk1	T	C	6: 43,536,901 (GRCm39)	D54G	probably benign	Het
Trim39	G	T	17: 36,571,492 (GRCm39)	T422K	probably benign	Het
Ttn	T	G	2: 76,536,112 (GRCm39)	E35082A		Het
Vac14	T	A	8: 111,397,738 (GRCm39)	D484E	probably benign	Het
Vmn1r158	G	T	7: 22,489,888 (GRCm39)	T107N	probably damaging	Het
Vmn1r51	T	A	6: 90,106,930 (GRCm39)	I282N	probably damaging	Het
Vps26a	A	T	10: 62,300,516 (GRCm39)	Y217N	probably damaging	Het
Zfp942	G	A	17: 22,148,422 (GRCm39)	T69I	probably benign	Het
Zmym4	A	G	4: 126,800,993 (GRCm39)	S536P	probably benign	Het
Znrf3	A	G	11: 5,288,696 (GRCm39)	V24A	probably damaging	Het
Zranb3	A	G	1: 127,891,496 (GRCm39)		probably null	Het
Zzef1	T	C	11: 72,814,009 (GRCm39)		probably null	Het

Other mutations in Cyp2c70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Cyp2c70	APN	19	40,145,270 (GRCm39)	missense	probably benign	0.00
IGL00335:Cyp2c70	APN	19	40,156,020 (GRCm39)	missense	probably damaging	1.00
IGL01966:Cyp2c70	APN	19	40,142,016 (GRCm39)	utr 3 prime	probably benign
PIT4468001:Cyp2c70	UTSW	19	40,153,806 (GRCm39)	missense	probably damaging	1.00
R0012:Cyp2c70	UTSW	19	40,175,687 (GRCm39)	missense	probably null	1.00
R0044:Cyp2c70	UTSW	19	40,153,815 (GRCm39)	missense	possibly damaging	0.85
R0309:Cyp2c70	UTSW	19	40,149,115 (GRCm39)	missense	possibly damaging	0.94
R1572:Cyp2c70	UTSW	19	40,172,426 (GRCm39)	missense	probably benign	0.21
R1650:Cyp2c70	UTSW	19	40,153,921 (GRCm39)	missense	probably benign	0.00
R1671:Cyp2c70	UTSW	19	40,142,081 (GRCm39)	missense	probably damaging	1.00
R2016:Cyp2c70	UTSW	19	40,152,856 (GRCm39)	missense	possibly damaging	0.94
R2163:Cyp2c70	UTSW	19	40,149,163 (GRCm39)	missense	possibly damaging	0.64
R3425:Cyp2c70	UTSW	19	40,172,468 (GRCm39)	missense	probably damaging	1.00
R4299:Cyp2c70	UTSW	19	40,172,372 (GRCm39)	missense	probably benign	0.00
R5037:Cyp2c70	UTSW	19	40,172,441 (GRCm39)	missense	possibly damaging	0.72
R5103:Cyp2c70	UTSW	19	40,149,076 (GRCm39)	missense	probably damaging	0.96
R6060:Cyp2c70	UTSW	19	40,153,857 (GRCm39)	nonsense	probably null
R6440:Cyp2c70	UTSW	19	40,145,250 (GRCm39)	missense	possibly damaging	0.64
R6853:Cyp2c70	UTSW	19	40,172,364 (GRCm39)	missense	possibly damaging	0.72
R6936:Cyp2c70	UTSW	19	40,156,007 (GRCm39)	missense	probably damaging	0.97
R7098:Cyp2c70	UTSW	19	40,168,931 (GRCm39)	missense	probably benign	0.02
R8380:Cyp2c70	UTSW	19	40,175,669 (GRCm39)	missense	probably benign	0.03
R8419:Cyp2c70	UTSW	19	40,149,024 (GRCm39)	missense	possibly damaging	0.57
R8555:Cyp2c70	UTSW	19	40,172,345 (GRCm39)	missense	probably benign	0.04
R8678:Cyp2c70	UTSW	19	40,156,016 (GRCm39)	missense	probably damaging	1.00
R8705:Cyp2c70	UTSW	19	40,168,948 (GRCm39)	missense	probably benign	0.29
R8968:Cyp2c70	UTSW	19	40,142,059 (GRCm39)	missense	probably benign	0.26
R9225:Cyp2c70	UTSW	19	40,168,912 (GRCm39)	missense	probably damaging	0.99
R9655:Cyp2c70	UTSW	19	40,149,121 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ACTGTTGTCATGGGGCAAAGTAAC -3'
(R):5'- AGAGCTGTCAGGTAAGGTGC -3'

Sequencing Primer
(F):5'- GGGGCAAAGTAACCTTCAATTATAC -3'
(R):5'- GGTGCGGCTGACAATCATG -3'

Posted On

2022-06-15