Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4468001:Cyp2c70'

555676

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c70

Ensembl Gene

ENSMUSG00000060613

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 70

Synonyms

Accession Numbers

Essential gene?

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

Stock #

PIT4468001 (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 A at 40153806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 261 (D261V)

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: D261V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000060584
Gene: ENSMUSG00000060613
AA Change: D261V

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: 93.0%
3x: 90.7%
10x: 85.2%
20x: 72.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	C	T	14: 4,348,940 (GRCm38)	L34F	probably damaging	Het
Alms1	T	C	6: 85,601,701 (GRCm39)		probably null	Het
Arhgap15	C	A	2: 44,133,143 (GRCm39)	Q350K	probably damaging	Het
Bbs1	T	A	19: 4,956,190 (GRCm39)	H35L	probably benign	Het
Cep85	T	C	4: 133,876,008 (GRCm39)	N468S	probably damaging	Het
Chd8	T	C	14: 52,455,338 (GRCm39)	I1050V	possibly damaging	Het
Chd8	A	C	14: 52,445,453 (GRCm39)	D1709E	probably benign	Het
Clec9a	G	A	6: 129,396,597 (GRCm39)		probably null	Het
Deup1	T	C	9: 15,475,301 (GRCm39)	N420D	possibly damaging	Het
Dpys	T	A	15: 39,720,601 (GRCm39)	D53V	probably damaging	Het
Edem1	A	G	6: 108,821,828 (GRCm39)	E295G	probably damaging	Het
Farp2	G	T	1: 93,456,499 (GRCm39)	E61*	probably null	Het
Fat3	T	G	9: 15,907,647 (GRCm39)	D2785A	probably benign	Het
Fbxo30	T	A	10: 11,166,700 (GRCm39)	M474K	possibly damaging	Het
Gm13090	C	A	4: 151,175,539 (GRCm39)	P93Q	unknown	Het
Gm21976	A	T	13: 98,443,535 (GRCm39)	R229*	probably null	Het
Gpr108	A	T	17: 57,554,563 (GRCm39)	L25Q	probably null	Het
Hdac9	C	A	12: 34,145,933 (GRCm39)	V920F	unknown	Het
Ighv13-2	T	C	12: 114,321,593 (GRCm39)	S49G	probably benign	Het
Krt6a	T	C	15: 101,602,352 (GRCm39)	Y111C	probably damaging	Het
Mib1	T	C	18: 10,798,463 (GRCm39)	S775P	possibly damaging	Het
Mki67	A	G	7: 135,300,876 (GRCm39)	I1386T	probably benign	Het
Mroh2b	A	G	15: 4,942,294 (GRCm39)	E352G	probably damaging	Het
Nfya	A	G	17: 48,702,805 (GRCm39)	M61T	unknown	Het
Ntn4	A	G	10: 93,480,587 (GRCm39)	T104A	probably damaging	Het
Numb	G	A	12: 83,854,921 (GRCm39)	T135I	probably damaging	Het
Or4b12	C	A	2: 90,096,564 (GRCm39)	C70F	probably benign	Het
Or52ab4	A	C	7: 102,987,807 (GRCm39)	E182A	probably damaging	Het
Or5m5	A	T	2: 85,814,792 (GRCm39)	T203S	probably benign	Het
Parpbp	A	C	10: 87,979,935 (GRCm39)	L7R	probably benign	Het
Pcdhb8	T	C	18: 37,489,686 (GRCm39)	Y455H	probably damaging	Het
Pcdhga10	T	A	18: 37,880,936 (GRCm39)	D232E	probably damaging	Het
Pcdhga9	T	A	18: 37,872,527 (GRCm39)	C785*	probably null	Het
Pkd1l3	A	G	8: 110,391,131 (GRCm39)	Y1913C	possibly damaging	Het
Pld4	T	G	12: 112,734,256 (GRCm39)	L374R	probably damaging	Het
Ppp1r13b	A	T	12: 111,805,136 (GRCm39)	I350N	probably benign	Het
Rc3h2	C	A	2: 37,289,651 (GRCm39)	G387V	probably damaging	Het
Rfwd3	T	C	8: 112,009,352 (GRCm39)	H408R	probably benign	Het
Rpl3l	A	G	17: 24,954,457 (GRCm39)	T173A	probably benign	Het
Sdad1	T	C	5: 92,439,777 (GRCm39)	D416G	probably damaging	Het
Srp72	C	A	5: 77,142,053 (GRCm39)	T430K	probably benign	Het
Steap1	C	A	5: 5,786,642 (GRCm39)	G265V	probably damaging	Het
Sulf2	A	T	2: 165,922,720 (GRCm39)	I670N	probably benign	Het
Tcf7l2	A	T	19: 55,730,820 (GRCm39)	D16V	probably damaging	Het
Tmem100	T	A	11: 89,926,187 (GRCm39)	S5T	probably benign	Het
Tnc	C	A	4: 63,882,904 (GRCm39)	D1906Y	probably damaging	Het
Trak1	T	C	9: 121,282,398 (GRCm39)	S436P	probably benign	Het
Ttyh1	T	C	7: 4,122,771 (GRCm39)	Y40H	possibly damaging	Het
Ubxn8	T	A	8: 34,111,569 (GRCm39)	S275C	probably benign	Het
Umodl1	A	G	17: 31,178,252 (GRCm39)	Y76C	probably damaging	Het
Upk3b	C	T	5: 136,071,861 (GRCm39)	T222M	probably benign	Het
Usp42	T	A	5: 143,700,399 (GRCm39)	K1208M	probably damaging	Het
Vmn2r25	A	T	6: 123,816,557 (GRCm39)	D341E	probably benign	Het
Vmn2r83	T	G	10: 79,313,884 (GRCm39)	L164R	probably damaging	Het
Vwa8	G	T	14: 79,420,501 (GRCm39)	R1734L	probably damaging	Het
Zfand2b	G	T	1: 75,146,476 (GRCm39)	R117L	probably benign	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
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
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'- AAACTGAGAATCTTAACGATCCCTG -3'
(R):5'- GTGGAACTCACCGTTATGAAGTG -3'

Sequencing Primer
(F):5'- GTTGGAACATCCCACTTTC -3'
(R):5'- GAACTCACCGTTATGAAGTGTTGGAC -3'

Posted On

2019-06-07