Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01924:Cyp3a57'

180190

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyp3a57

Ensembl Gene

ENSMUSG00000070419

Gene Name

cytochrome P450, family 3, subfamily a, polypeptide 57

Synonyms

EG622127

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL01924

Quality Score

Status

Chromosome

Chromosomal Location

145345279-145390926 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 145372629 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 259 (D259G)

Ref Sequence

ENSEMBL: ENSMUSP00000078251 (fasta)

Gene Model

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

AlphaFold

D3YYZ0

Predicted Effect

probably benign
Transcript: ENSMUST00000079268
AA Change: D259G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000078251
Gene: ENSMUSG00000070419
AA Change: D259G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174696

SMART Domains

Protein: ENSMUSP00000133600
Gene: ENSMUSG00000070419

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	T	5: 114,223,986 (GRCm38)		probably benign	Het
Adamts13	A	G	2: 26,996,583 (GRCm38)	E938G	possibly damaging	Het
Aox2	C	T	1: 58,287,743 (GRCm38)	T167I	possibly damaging	Het
Apba3	G	T	10: 81,273,073 (GRCm38)	A557S	probably benign	Het
Atad2b	T	C	12: 5,034,093 (GRCm38)	L1382P	probably damaging	Het
Atrn	C	T	2: 130,935,565 (GRCm38)	T178I	probably damaging	Het
B4galnt1	A	G	10: 127,166,761 (GRCm38)	S88G	probably benign	Het
Baz2b	T	C	2: 59,935,271 (GRCm38)	K887E	probably damaging	Het
Ccdc162	A	C	10: 41,569,887 (GRCm38)	F430V	probably damaging	Het
Cdc42bpb	T	A	12: 111,317,453 (GRCm38)		probably benign	Het
Chit1	A	G	1: 134,149,410 (GRCm38)	D317G	probably benign	Het
Chrnb1	A	T	11: 69,795,019 (GRCm38)		probably benign	Het
Cobl	G	T	11: 12,254,596 (GRCm38)	T620K	probably benign	Het
Creld1	T	C	6: 113,483,960 (GRCm38)	F20L	probably benign	Het
Csmd2	A	T	4: 128,559,947 (GRCm38)	D3475V	unknown	Het
Dbnl	A	G	11: 5,797,142 (GRCm38)	Y224C	probably damaging	Het
Det1	A	T	7: 78,843,823 (GRCm38)	C144*	probably null	Het
Fbxo47	G	T	11: 97,856,160 (GRCm38)	A360D	probably damaging	Het
Frrs1	G	A	3: 116,885,239 (GRCm38)	G237R	probably damaging	Het
Gatsl2	T	C	5: 134,135,602 (GRCm38)	F134S	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm38)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm4788	G	A	1: 139,739,206 (GRCm38)	L444F	probably damaging	Het
Gm5862	A	C	5: 26,022,771 (GRCm38)	W41G	probably benign	Het
Gria2	T	C	3: 80,710,331 (GRCm38)	T372A	probably benign	Het
Hmcn2	A	T	2: 31,398,917 (GRCm38)	Q2246L	probably benign	Het
Ide	T	C	19: 37,272,164 (GRCm38)	M930V	unknown	Het
Kdm5a	T	C	6: 120,394,255 (GRCm38)		probably null	Het
Khnyn	A	G	14: 55,894,969 (GRCm38)	T625A	probably benign	Het
Lrrtm1	T	C	6: 77,244,186 (GRCm38)	F209L	possibly damaging	Het
Med13	C	A	11: 86,308,696 (GRCm38)		probably benign	Het
Myom2	A	G	8: 15,069,685 (GRCm38)	E147G	probably benign	Het
Myrip	T	A	9: 120,388,264 (GRCm38)	V88D	probably damaging	Het
Nbeal2	T	C	9: 110,631,414 (GRCm38)	H1784R	probably benign	Het
Nlrp4e	T	A	7: 23,320,830 (GRCm38)	C247*	probably null	Het
Nup54	G	A	5: 92,424,435 (GRCm38)	P252L	probably benign	Het
Olfr610	A	G	7: 103,506,796 (GRCm38)	I50T	possibly damaging	Het
Otoa	C	A	7: 121,105,968 (GRCm38)	N244K	probably damaging	Het
Pbrm1	G	A	14: 31,082,604 (GRCm38)	R960H	probably damaging	Het
Ptcd3	A	T	6: 71,898,427 (GRCm38)	N190K	probably damaging	Het
Rhobtb1	T	A	10: 69,270,304 (GRCm38)	L233H	probably damaging	Het
Sec24c	T	A	14: 20,689,689 (GRCm38)	F545I	probably damaging	Het
Slc6a15	T	C	10: 103,404,825 (GRCm38)		probably null	Het
Slitrk1	G	A	14: 108,911,239 (GRCm38)	A680V	probably benign	Het
Smpd1	C	T	7: 105,555,448 (GRCm38)	S178L	probably benign	Het
Spindoc	A	G	19: 7,382,677 (GRCm38)	L42P	probably damaging	Het
Tenm4	A	G	7: 96,895,212 (GRCm38)	E2145G	probably damaging	Het
Tmem144	G	T	3: 79,839,194 (GRCm38)	A18E	probably damaging	Het
Tmem213	A	T	6: 38,109,438 (GRCm38)	S10C	possibly damaging	Het
Trav6-3	A	T	14: 53,430,343 (GRCm38)	I102L	probably benign	Het
Trip11	T	G	12: 101,886,884 (GRCm38)	N483T	possibly damaging	Het
Unc13b	C	T	4: 43,239,385 (GRCm38)	R1056*	probably null	Het
Wdr27	T	G	17: 14,917,226 (GRCm38)	K433N	probably damaging	Het
Wls	C	A	3: 159,901,443 (GRCm38)	S189*	probably null	Het
Yeats2	A	G	16: 20,206,167 (GRCm38)	N706D	probably damaging	Het
Zbp1	A	G	2: 173,212,254 (GRCm38)	V158A	probably benign	Het
Zfp595	G	T	13: 67,317,783 (GRCm38)	H139N	possibly damaging	Het

Other mutations in Cyp3a57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Cyp3a57	APN	5	145,371,024 (GRCm38)	missense	probably damaging	1.00
IGL00656:Cyp3a57	APN	5	145,372,549 (GRCm38)	missense	possibly damaging	0.55
IGL01368:Cyp3a57	APN	5	145,369,068 (GRCm38)	missense	probably damaging	0.99
IGL01602:Cyp3a57	APN	5	145,387,044 (GRCm38)	missense	probably damaging	1.00
IGL01605:Cyp3a57	APN	5	145,387,044 (GRCm38)	missense	probably damaging	1.00
IGL02191:Cyp3a57	APN	5	145,365,685 (GRCm38)	missense	probably damaging	1.00
IGL02213:Cyp3a57	APN	5	145,381,280 (GRCm38)	missense	probably damaging	1.00
IGL02217:Cyp3a57	APN	5	145,369,143 (GRCm38)	splice site	probably null
R0141:Cyp3a57	UTSW	5	145,362,102 (GRCm38)	missense	probably benign	0.05
R0720:Cyp3a57	UTSW	5	145,390,403 (GRCm38)	splice site	probably benign
R0765:Cyp3a57	UTSW	5	145,390,410 (GRCm38)	splice site	probably benign
R0976:Cyp3a57	UTSW	5	145,390,468 (GRCm38)	missense	probably benign	0.01
R1494:Cyp3a57	UTSW	5	145,381,267 (GRCm38)	missense	probably damaging	0.97
R1624:Cyp3a57	UTSW	5	145,390,415 (GRCm38)	critical splice acceptor site	probably null
R1732:Cyp3a57	UTSW	5	145,365,645 (GRCm38)	missense	probably damaging	1.00
R1791:Cyp3a57	UTSW	5	145,371,010 (GRCm38)	missense	probably benign	0.06
R1839:Cyp3a57	UTSW	5	145,381,301 (GRCm38)	missense	probably damaging	1.00
R1858:Cyp3a57	UTSW	5	145,381,249 (GRCm38)	missense	probably damaging	1.00
R2095:Cyp3a57	UTSW	5	145,369,134 (GRCm38)	nonsense	probably null
R2305:Cyp3a57	UTSW	5	145,381,280 (GRCm38)	missense	probably damaging	1.00
R3954:Cyp3a57	UTSW	5	145,349,325 (GRCm38)	critical splice acceptor site	probably null
R4289:Cyp3a57	UTSW	5	145,349,397 (GRCm38)	missense	probably damaging	1.00
R4463:Cyp3a57	UTSW	5	145,381,274 (GRCm38)	missense	probably damaging	1.00
R4579:Cyp3a57	UTSW	5	145,374,264 (GRCm38)	missense	probably benign	0.00
R4598:Cyp3a57	UTSW	5	145,390,417 (GRCm38)	missense	probably benign	0.01
R4678:Cyp3a57	UTSW	5	145,370,728 (GRCm38)	splice site	probably null
R4853:Cyp3a57	UTSW	5	145,365,679 (GRCm38)	missense	probably damaging	1.00
R4954:Cyp3a57	UTSW	5	145,370,955 (GRCm38)	critical splice acceptor site	probably null
R4977:Cyp3a57	UTSW	5	145,349,426 (GRCm38)	splice site	probably null
R5162:Cyp3a57	UTSW	5	145,369,083 (GRCm38)	missense	probably damaging	1.00
R5226:Cyp3a57	UTSW	5	145,365,697 (GRCm38)	missense	probably benign	0.04
R5470:Cyp3a57	UTSW	5	145,372,619 (GRCm38)	missense	probably benign	0.12
R5568:Cyp3a57	UTSW	5	145,370,646 (GRCm38)	missense	probably benign	0.01
R5652:Cyp3a57	UTSW	5	145,349,325 (GRCm38)	critical splice acceptor site	probably null
R5872:Cyp3a57	UTSW	5	145,371,057 (GRCm38)	nonsense	probably null
R6855:Cyp3a57	UTSW	5	145,372,566 (GRCm38)	missense	probably damaging	0.97
R6861:Cyp3a57	UTSW	5	145,370,963 (GRCm38)	missense	possibly damaging	0.85
R6893:Cyp3a57	UTSW	5	145,386,974 (GRCm38)	nonsense	probably null
R7081:Cyp3a57	UTSW	5	145,381,373 (GRCm38)	missense	probably damaging	1.00
R7305:Cyp3a57	UTSW	5	145,370,985 (GRCm38)	missense	probably benign	0.03
R8987:Cyp3a57	UTSW	5	145,374,230 (GRCm38)	critical splice acceptor site	probably null
R8987:Cyp3a57	UTSW	5	145,374,229 (GRCm38)	critical splice acceptor site	probably null
R9317:Cyp3a57	UTSW	5	145,372,611 (GRCm38)	missense	possibly damaging	0.78
R9368:Cyp3a57	UTSW	5	145,381,349 (GRCm38)	missense	probably benign	0.01
R9505:Cyp3a57	UTSW	5	145,349,329 (GRCm38)	missense	probably benign	0.40
Z1177:Cyp3a57	UTSW	5	145,365,633 (GRCm38)	missense	probably damaging	1.00

Posted On

2014-05-07