Mutagenetix > Incidental Mutation

Incidental Mutation 'R2095:Cyp3a57'

232037

Institutional Source

Beutler Lab

Gene Symbol

Cyp3a57

Ensembl Gene

ENSMUSG00000070419

Gene Name

cytochrome P450, family 3, subfamily a, polypeptide 57

Synonyms

EG622127

MMRRC Submission

040099-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R2095 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

145282089-145327736 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 145305944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 143 (K143*)

Ref Sequence

ENSEMBL: ENSMUSP00000133600 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079268] [ENSMUST00000174696]

AlphaFold

D3YYZ0

Predicted Effect

probably null
Transcript: ENSMUST00000079268
AA Change: K143*

SMART Domains

Protein: ENSMUSP00000078251
Gene: ENSMUSG00000070419
AA Change: K143*

Domain	Start	End	E-Value	Type
Pfam:p450	38	493	6.5e-131	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000174696
AA Change: K143*

SMART Domains

Protein: ENSMUSP00000133600
Gene: ENSMUSG00000070419
AA Change: K143*

Domain	Start	End	E-Value	Type
Pfam:p450	38	147	1.8e-21	PFAM

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	C	A	4: 122,596,151 (GRCm39)	Y127*	probably null	Het
Adam33	C	T	2: 130,895,629 (GRCm39)	G562D	probably damaging	Het
Adh1	T	C	3: 137,988,557 (GRCm39)	F177L	probably damaging	Het
Arhgef17	T	C	7: 100,530,470 (GRCm39)	T1439A	probably damaging	Het
Arl5c	C	T	11: 97,884,277 (GRCm39)	E105K	probably damaging	Het
Armc3	T	A	2: 19,293,740 (GRCm39)	D510E	possibly damaging	Het
Bbx	T	C	16: 50,045,052 (GRCm39)	E395G	possibly damaging	Het
Cacna2d2	G	A	9: 107,404,364 (GRCm39)	E1087K	probably benign	Het
Casq1	T	C	1: 172,043,529 (GRCm39)	N113S	probably benign	Het
Cbfa2t3	A	G	8: 123,361,727 (GRCm39)	S432P	probably benign	Het
Ccn2	T	C	10: 24,472,377 (GRCm39)	V140A	probably benign	Het
Cd163	A	G	6: 124,294,781 (GRCm39)	D615G	probably damaging	Het
Chrnb2	A	T	3: 89,668,744 (GRCm39)	D190E	probably benign	Het
Clec9a	T	C	6: 129,393,321 (GRCm39)	L115P	possibly damaging	Het
Cluh	C	T	11: 74,552,550 (GRCm39)	R532*	probably null	Het
Cntnap5a	T	A	1: 116,369,990 (GRCm39)	L869Q	probably damaging	Het
Dcaf12	G	T	4: 41,294,085 (GRCm39)	H351N	probably benign	Het
Dtna	T	A	18: 23,702,805 (GRCm39)	L112Q	probably damaging	Het
Fnta	G	A	8: 26,489,907 (GRCm39)	Q303*	probably null	Het
Frs2	T	C	10: 116,910,507 (GRCm39)	E285G	probably benign	Het
Gabra4	T	C	5: 71,781,455 (GRCm39)	I293V	probably damaging	Het
Gm2431	A	T	7: 141,811,518 (GRCm39)	C129S	unknown	Het
Gnl2	C	T	4: 124,928,111 (GRCm39)	R49C	probably damaging	Het
Helz	T	A	11: 107,536,972 (GRCm39)	Y275N	probably damaging	Het
Hydin	A	G	8: 111,189,289 (GRCm39)	E1231G	probably damaging	Het
Kctd11	T	A	11: 69,770,402 (GRCm39)	D212V	probably damaging	Het
Klf3	T	A	5: 64,979,245 (GRCm39)	M29K	probably benign	Het
Klhl21	T	C	4: 152,093,850 (GRCm39)	S151P	probably benign	Het
Lsm14b	A	T	2: 179,673,580 (GRCm39)		probably benign	Het
Mlxipl	T	C	5: 135,150,974 (GRCm39)		probably benign	Het
Mov10	G	A	3: 104,708,847 (GRCm39)	R389C	probably damaging	Het
Msh6	A	G	17: 88,295,661 (GRCm39)	M1071V	possibly damaging	Het
Myh8	G	T	11: 67,177,050 (GRCm39)	A401S	probably benign	Het
Ndufv3	T	C	17: 31,746,460 (GRCm39)	S117P	possibly damaging	Het
Obscn	A	T	11: 58,984,410 (GRCm39)		probably null	Het
Or1e22	T	A	11: 73,377,420 (GRCm39)	T77S	probably damaging	Het
Or2l13	T	C	16: 19,305,681 (GRCm39)	I31T	probably benign	Het
Or4c11c	T	C	2: 88,661,634 (GRCm39)	Y58H	probably damaging	Het
Or8g50	T	A	9: 39,648,557 (GRCm39)	Y149N	probably damaging	Het
Pcdhb17	T	A	18: 37,619,375 (GRCm39)	D388E	probably benign	Het
Pgm3	T	C	9: 86,438,394 (GRCm39)	T423A	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
S1pr5	T	A	9: 21,156,154 (GRCm39)	T91S	probably benign	Het
Sgcz	T	C	8: 38,007,546 (GRCm39)		probably benign	Het
Slc33a1	A	G	3: 63,871,376 (GRCm39)	L79P	probably damaging	Het
Slco2a1	A	G	9: 102,954,167 (GRCm39)	T383A	probably benign	Het
Slit1	G	A	19: 41,594,819 (GRCm39)	R1184W	probably damaging	Het
Spta1	T	A	1: 174,071,764 (GRCm39)	M2248K	possibly damaging	Het
Stub1	A	G	17: 26,049,864 (GRCm39)	Y304H	probably damaging	Het
Taar7e	T	A	10: 23,913,949 (GRCm39)	Y146*	probably null	Het
Tbc1d1	C	T	5: 64,473,844 (GRCm39)	S660L	probably benign	Het
Tcea2	C	A	2: 181,328,725 (GRCm39)	F259L	probably damaging	Het
Tcp11l1	T	A	2: 104,512,185 (GRCm39)	K482N	probably damaging	Het
Trpv6	C	T	6: 41,598,690 (GRCm39)	R645Q	probably damaging	Het
Uaca	T	A	9: 60,748,125 (GRCm39)	S30T	probably benign	Het
Ubap2	C	G	4: 41,206,901 (GRCm39)	V492L	possibly damaging	Het
Ube3c	T	C	5: 29,873,038 (GRCm39)	F1026S	probably damaging	Het
Vmn2r8	T	G	5: 108,956,487 (GRCm39)	D45A	possibly damaging	Het
Zfp738	G	T	13: 67,819,422 (GRCm39)	L180I	probably damaging	Het

Other mutations in Cyp3a57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Cyp3a57	APN	5	145,307,834 (GRCm39)	missense	probably damaging	1.00
IGL00656:Cyp3a57	APN	5	145,309,359 (GRCm39)	missense	possibly damaging	0.55
IGL01368:Cyp3a57	APN	5	145,305,878 (GRCm39)	missense	probably damaging	0.99
IGL01602:Cyp3a57	APN	5	145,323,854 (GRCm39)	missense	probably damaging	1.00
IGL01605:Cyp3a57	APN	5	145,323,854 (GRCm39)	missense	probably damaging	1.00
IGL01924:Cyp3a57	APN	5	145,309,439 (GRCm39)	missense	probably benign
IGL02191:Cyp3a57	APN	5	145,302,495 (GRCm39)	missense	probably damaging	1.00
IGL02213:Cyp3a57	APN	5	145,318,090 (GRCm39)	missense	probably damaging	1.00
IGL02217:Cyp3a57	APN	5	145,305,953 (GRCm39)	splice site	probably null
R0141:Cyp3a57	UTSW	5	145,298,912 (GRCm39)	missense	probably benign	0.05
R0720:Cyp3a57	UTSW	5	145,327,213 (GRCm39)	splice site	probably benign
R0765:Cyp3a57	UTSW	5	145,327,220 (GRCm39)	splice site	probably benign
R0976:Cyp3a57	UTSW	5	145,327,278 (GRCm39)	missense	probably benign	0.01
R1494:Cyp3a57	UTSW	5	145,318,077 (GRCm39)	missense	probably damaging	0.97
R1624:Cyp3a57	UTSW	5	145,327,225 (GRCm39)	critical splice acceptor site	probably null
R1732:Cyp3a57	UTSW	5	145,302,455 (GRCm39)	missense	probably damaging	1.00
R1791:Cyp3a57	UTSW	5	145,307,820 (GRCm39)	missense	probably benign	0.06
R1839:Cyp3a57	UTSW	5	145,318,111 (GRCm39)	missense	probably damaging	1.00
R1858:Cyp3a57	UTSW	5	145,318,059 (GRCm39)	missense	probably damaging	1.00
R2305:Cyp3a57	UTSW	5	145,318,090 (GRCm39)	missense	probably damaging	1.00
R3954:Cyp3a57	UTSW	5	145,286,135 (GRCm39)	critical splice acceptor site	probably null
R4289:Cyp3a57	UTSW	5	145,286,207 (GRCm39)	missense	probably damaging	1.00
R4463:Cyp3a57	UTSW	5	145,318,084 (GRCm39)	missense	probably damaging	1.00
R4579:Cyp3a57	UTSW	5	145,311,074 (GRCm39)	missense	probably benign	0.00
R4598:Cyp3a57	UTSW	5	145,327,227 (GRCm39)	missense	probably benign	0.01
R4678:Cyp3a57	UTSW	5	145,307,538 (GRCm39)	splice site	probably null
R4853:Cyp3a57	UTSW	5	145,302,489 (GRCm39)	missense	probably damaging	1.00
R4954:Cyp3a57	UTSW	5	145,307,765 (GRCm39)	critical splice acceptor site	probably null
R4977:Cyp3a57	UTSW	5	145,286,236 (GRCm39)	splice site	probably null
R5162:Cyp3a57	UTSW	5	145,305,893 (GRCm39)	missense	probably damaging	1.00
R5226:Cyp3a57	UTSW	5	145,302,507 (GRCm39)	missense	probably benign	0.04
R5470:Cyp3a57	UTSW	5	145,309,429 (GRCm39)	missense	probably benign	0.12
R5568:Cyp3a57	UTSW	5	145,307,456 (GRCm39)	missense	probably benign	0.01
R5652:Cyp3a57	UTSW	5	145,286,135 (GRCm39)	critical splice acceptor site	probably null
R5872:Cyp3a57	UTSW	5	145,307,867 (GRCm39)	nonsense	probably null
R6855:Cyp3a57	UTSW	5	145,309,376 (GRCm39)	missense	probably damaging	0.97
R6861:Cyp3a57	UTSW	5	145,307,773 (GRCm39)	missense	possibly damaging	0.85
R6893:Cyp3a57	UTSW	5	145,323,784 (GRCm39)	nonsense	probably null
R7081:Cyp3a57	UTSW	5	145,318,183 (GRCm39)	missense	probably damaging	1.00
R7305:Cyp3a57	UTSW	5	145,307,795 (GRCm39)	missense	probably benign	0.03
R8987:Cyp3a57	UTSW	5	145,311,040 (GRCm39)	critical splice acceptor site	probably null
R8987:Cyp3a57	UTSW	5	145,311,039 (GRCm39)	critical splice acceptor site	probably null
R9317:Cyp3a57	UTSW	5	145,309,421 (GRCm39)	missense	possibly damaging	0.78
R9368:Cyp3a57	UTSW	5	145,318,159 (GRCm39)	missense	probably benign	0.01
R9505:Cyp3a57	UTSW	5	145,286,139 (GRCm39)	missense	probably benign	0.40
Z1177:Cyp3a57	UTSW	5	145,302,443 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTAAGACCCAGACAATTAACAGTG -3'
(R):5'- TCATCCCAGTAGTGAGGCAATG -3'

Sequencing Primer
(F):5'- ACCCAGACAATTAACAGTGATATTTG -3'
(R):5'- TCCCAGTAGTGAGGCAATGACTTG -3'

Posted On

2014-09-18