Mutagenetix > Incidental Mutation

Incidental Mutation 'R8419:Cyp2c70'

653122

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c70

Ensembl Gene

ENSMUSG00000060613

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 70

Synonyms

MMRRC Submission

067772-MU

Accession Numbers

Essential gene?

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

Stock #

R8419 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40141805-40175730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40149024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 374 (E374G)

Ref Sequence

ENSEMBL: ENSMUSP00000060584 (fasta)

Gene Model

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

AlphaFold

Q91W64

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051846
AA Change: E374G

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000060584
Gene: ENSMUSG00000060613
AA Change: E374G

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: 99.6%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	A	T	11: 48,910,312 (GRCm39)	I707N	probably damaging	Het
Abca14	A	G	7: 119,815,489 (GRCm39)	I246V	probably benign	Het
Adam19	G	A	11: 46,015,850 (GRCm39)	A337T	possibly damaging	Het
Ankrd40	G	T	11: 94,225,662 (GRCm39)	G231V	probably damaging	Het
Arhgap5	G	A	12: 52,565,572 (GRCm39)	V848I	probably damaging	Het
Bmpr2	G	A	1: 59,906,515 (GRCm39)	R536H	probably damaging	Het
Casz1	T	A	4: 149,033,040 (GRCm39)	S1310T	probably benign	Het
Chi3l1	A	T	1: 134,117,280 (GRCm39)	D367V	probably damaging	Het
Cltc	A	G	11: 86,598,392 (GRCm39)	V990A	probably benign	Het
Col6a3	A	T	1: 90,729,935 (GRCm39)	S1790R	probably damaging	Het
Comt	C	T	16: 18,230,637 (GRCm39)	W24*	probably null	Het
Dach1	T	C	14: 98,406,076 (GRCm39)	T224A	probably damaging	Het
Dapk1	G	A	13: 60,887,911 (GRCm39)	E656K	probably benign	Het
Dicer1	A	G	12: 104,668,936 (GRCm39)	S1249P	probably benign	Het
Dpp8	A	C	9: 64,988,037 (GRCm39)	I861L	probably benign	Het
Enam	C	T	5: 88,651,209 (GRCm39)	S906L	possibly damaging	Het
Eral1	A	T	11: 77,964,906 (GRCm39)	I429N	possibly damaging	Het
Fbxo10	C	A	4: 45,041,809 (GRCm39)	G807C	possibly damaging	Het
Fcgbpl1	G	T	7: 27,843,346 (GRCm39)	G745C	probably damaging	Het
Fsip2	G	C	2: 82,808,963 (GRCm39)	E1761Q	probably damaging	Het
Ggnbp2	C	T	11: 84,728,815 (GRCm39)		probably null	Het
Gm4353	G	A	7: 115,682,784 (GRCm39)	P266S	probably benign	Het
Gpr84	T	C	15: 103,217,963 (GRCm39)	N38S	probably damaging	Het
Guca1a	A	T	17: 47,706,480 (GRCm39)	I115N	probably damaging	Het
Hic1	C	T	11: 75,057,096 (GRCm39)	V598M	possibly damaging	Het
Itga1	A	T	13: 115,143,604 (GRCm39)	I309N	probably damaging	Het
Itga11	T	C	9: 62,662,460 (GRCm39)	S478P	possibly damaging	Het
Kctd8	T	C	5: 69,497,713 (GRCm39)	D311G	probably damaging	Het
Klhl32	T	C	4: 24,682,203 (GRCm39)	E127G	possibly damaging	Het
Lama2	T	A	10: 27,298,559 (GRCm39)	Y179F	probably benign	Het
Lamb2	G	T	9: 108,365,563 (GRCm39)	R1382L	probably benign	Het
Mrpl1	C	G	5: 96,374,226 (GRCm39)	A167G	probably benign	Het
Muc17	A	T	5: 137,175,570 (GRCm39)	N33K		Het
Myt1	A	T	2: 181,424,399 (GRCm39)	R31*	probably null	Het
Nectin2	T	C	7: 19,451,646 (GRCm39)	T463A	probably benign	Het
Nectin2	A	T	7: 19,472,003 (GRCm39)	Y129N	probably damaging	Het
Or12d13	A	G	17: 37,647,466 (GRCm39)	I219T	possibly damaging	Het
Or4k47	A	T	2: 111,451,849 (GRCm39)	M190K	probably benign	Het
Papolb	T	A	5: 142,514,296 (GRCm39)	N449I	possibly damaging	Het
Parn	T	C	16: 13,466,338 (GRCm39)	K236R	probably benign	Het
Pramel22	A	G	4: 143,382,997 (GRCm39)	I74T	probably damaging	Het
Prelid1	G	A	13: 55,470,698 (GRCm39)	R42Q	probably damaging	Het
Prelp	A	G	1: 133,843,020 (GRCm39)	F42L	probably benign	Het
Pygo1	C	T	9: 72,852,380 (GRCm39)	P189L	probably damaging	Het
Rimbp3	T	A	16: 17,030,886 (GRCm39)	S1437T	probably damaging	Het
Slc37a2	T	A	9: 37,148,726 (GRCm39)	D252V	probably benign	Het
Socs7	A	G	11: 97,254,165 (GRCm39)	K233R	probably benign	Het
Spopfm2	T	C	3: 94,082,921 (GRCm39)	I297V	probably benign	Het
Stat4	A	G	1: 52,137,637 (GRCm39)	D476G	possibly damaging	Het
Tesmin	A	G	19: 3,439,077 (GRCm39)	D43G	probably benign	Het
Thap1	C	A	8: 26,648,502 (GRCm39)	Y8*	probably null	Het
Tln1	A	G	4: 43,536,397 (GRCm39)	L1965P	probably damaging	Het
Tmprss11d	A	G	5: 86,457,165 (GRCm39)	S303P	probably damaging	Het
Tomm40	C	T	7: 19,435,759 (GRCm39)	V324M	probably damaging	Het
Vmn1r202	A	T	13: 22,685,985 (GRCm39)	I144K	probably damaging	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
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
R9468:Cyp2c70	UTSW	19	40,168,889 (GRCm39)	missense	probably damaging	0.97
R9655:Cyp2c70	UTSW	19	40,149,121 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AAGCCCACTGGATAGCAAGG -3'
(R):5'- CTCTACTTCCTACCACAGTTGAAAATG -3'

Sequencing Primer
(F):5'- CCCACTGGATAGCAAGGTTGTAGAC -3'
(R):5'- TCCTACCACAGTTGAAAATGATCAAG -3'

Posted On

2020-10-20