Mutagenetix > Incidental Mutation

Incidental Mutation 'R1263:Cyp4a31'

151648

Institutional Source

Beutler Lab

Gene Symbol

Cyp4a31

Ensembl Gene

ENSMUSG00000028712

Gene Name

cytochrome P450, family 4, subfamily a, polypeptide 31

Synonyms

MMRRC Submission

039330-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R1263 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115563649-115579015 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115574711 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 396 (T396A)

Ref Sequence

ENSEMBL: ENSMUSP00000030480 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030480] [ENSMUST00000030486] [ENSMUST00000126645]

AlphaFold

F8WGU9

Predicted Effect

probably benign
Transcript: ENSMUST00000030480
AA Change: T396A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000030480
Gene: ENSMUSG00000028712
AA Change: T396A

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:p450	51	415	3.6e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030486
AA Change: T411A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000030486
Gene: ENSMUSG00000028712
AA Change: T411A

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
Pfam:p450	51	504	2.6e-134	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126645

SMART Domains

Protein: ENSMUSP00000117129
Gene: ENSMUSG00000028712

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
Pfam:p450	51	340	4.3e-66	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,620,278	Y207*	probably null	Het
Abca8b	A	C	11: 109,941,607	H1231Q	possibly damaging	Het
Acbd4	T	A	11: 103,103,851		probably null	Het
Atp13a4	T	A	16: 29,471,953	Y226F	possibly damaging	Het
Brd3	A	C	2: 27,462,522	F132C	probably damaging	Het
Btaf1	A	T	19: 36,956,524	N184I	probably benign	Het
Ccdc180	A	G	4: 45,903,887	E351G	possibly damaging	Het
Ccdc185	A	T	1: 182,747,353	Y590*	probably null	Het
Chil1	G	A	1: 134,189,242	E315K	probably benign	Het
Col6a6	T	A	9: 105,709,489	M1778L	probably benign	Het
Cyp3a59	A	C	5: 146,104,711	Y355S	probably damaging	Het
Dnah6	A	T	6: 73,144,965	I1373N	probably damaging	Het
Dopey2	C	A	16: 93,777,386	H1598N	probably benign	Het
Erich4	T	A	7: 25,615,134	K118M	probably damaging	Het
Gkap1	A	T	13: 58,255,773	V179E	probably benign	Het
Gpr107	T	G	2: 31,178,255	I243S	possibly damaging	Het
Hs3st6	A	G	17: 24,758,530	N328S	probably damaging	Het
Kcnq5	A	T	1: 21,479,378	I375N	probably damaging	Het
Klhdc3	A	T	17: 46,676,966	H266Q	probably benign	Het
Krt71	C	T	15: 101,735,466	G446R	probably damaging	Het
L3mbtl2	A	G	15: 81,682,968	T423A	probably benign	Het
Mical3	T	C	6: 120,952,469	E1812G	probably damaging	Het
Nlrp1a	A	G	11: 71,097,122	I1174T	probably benign	Het
Npas2	C	A	1: 39,334,768	Q450K	possibly damaging	Het
Nrp1	T	A	8: 128,468,389	I442N	probably damaging	Het
Olfr1385	A	T	11: 49,495,021	M163L	probably benign	Het
Olfr338	T	A	2: 36,376,994	S73T	probably damaging	Het
Palld	TGCGTAGCG	TGCG	8: 61,513,457		probably null	Het
Pih1d3	A	T	1: 31,223,215	I93F	probably damaging	Het
Pold3	T	A	7: 100,119,683	Q36L	possibly damaging	Het
Polg	T	C	7: 79,459,786	T428A	probably benign	Het
Rfx7	T	A	9: 72,577,047	V57E	possibly damaging	Het
Rnf122	T	G	8: 31,112,149	M1R	probably null	Het
Scn10a	T	A	9: 119,617,733	T1410S	probably damaging	Het
Serpinb13	T	A	1: 107,000,736	V362E	probably damaging	Het
Setdb1	T	C	3: 95,327,611	N927S	probably damaging	Het
Sft2d1	A	G	17: 8,320,638	K91R	probably benign	Het
Shprh	A	G	10: 11,159,530	H327R	probably damaging	Het
Slc9b2	C	A	3: 135,336,395	H478Q	probably benign	Het
Styxl1	G	T	5: 135,753,883	S117R	probably damaging	Het
Synj2	T	C	17: 6,019,359	F150L	probably damaging	Het
Tep1	C	A	14: 50,845,513	V1013L	possibly damaging	Het
Tgfbi	T	A	13: 56,630,655	L413Q	probably damaging	Het
Tmc5	G	A	7: 118,666,870	R789Q	probably damaging	Het
Tonsl	T	A	15: 76,622,562	I115F	possibly damaging	Het
Trim38	A	G	13: 23,791,134	Y352C	probably damaging	Het
Txnl4a	T	A	18: 80,207,321	V44D	probably benign	Het
Vars2	A	G	17: 35,661,609	V39A	probably damaging	Het
Vmn2r105	A	G	17: 20,208,322	C831R	probably damaging	Het
Vmn2r26	T	A	6: 124,050,708	I469N	probably benign	Het
Vmn2r53	T	C	7: 12,581,606	Y762C	probably benign	Het
Vps13d	T	A	4: 145,170,348	Q334L	probably benign	Het
Zfp277	A	T	12: 40,364,165	I227N	probably damaging	Het

Other mutations in Cyp4a31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Cyp4a31	APN	4	115574974	unclassified	probably benign
IGL01682:Cyp4a31	APN	4	115578031	missense	probably damaging	0.97
IGL02112:Cyp4a31	APN	4	115570983	missense	probably damaging	1.00
IGL02292:Cyp4a31	APN	4	115566501	missense	probably damaging	0.98
IGL02343:Cyp4a31	APN	4	115563829	missense	probably damaging	1.00
IGL02508:Cyp4a31	APN	4	115571064	missense	probably damaging	1.00
IGL03094:Cyp4a31	APN	4	115578108	utr 3 prime	probably benign
IGL03493:Cyp4a31	APN	4	115570755	splice site	probably null
R0400:Cyp4a31	UTSW	4	115563718	start codon destroyed	probably null	1.00
R1508:Cyp4a31	UTSW	4	115565053	missense	possibly damaging	0.53
R1523:Cyp4a31	UTSW	4	115569754	missense	probably benign	0.23
R1822:Cyp4a31	UTSW	4	115566613	splice site	probably null
R1832:Cyp4a31	UTSW	4	115569731	missense	probably benign
R1872:Cyp4a31	UTSW	4	115574736	missense	probably damaging	0.99
R2351:Cyp4a31	UTSW	4	115571313	missense	possibly damaging	0.95
R2426:Cyp4a31	UTSW	4	115571016	missense	probably damaging	0.98
R2993:Cyp4a31	UTSW	4	115569820	missense	probably benign	0.03
R3743:Cyp4a31	UTSW	4	115566519	missense	possibly damaging	0.95
R3812:Cyp4a31	UTSW	4	115566509	missense	probably benign
R3963:Cyp4a31	UTSW	4	115574772	unclassified	probably benign
R4211:Cyp4a31	UTSW	4	115565013	missense	probably benign	0.01
R4814:Cyp4a31	UTSW	4	115570269	missense	probably damaging	1.00
R6245:Cyp4a31	UTSW	4	115571348	missense	possibly damaging	0.91
R6255:Cyp4a31	UTSW	4	115574920	missense	possibly damaging	0.82
R6330:Cyp4a31	UTSW	4	115563877	missense	probably damaging	0.99
R6433:Cyp4a31	UTSW	4	115570269	missense	probably damaging	1.00
R6602:Cyp4a31	UTSW	4	115569707	critical splice acceptor site	probably null
R6844:Cyp4a31	UTSW	4	115563792	missense	probably null	0.00
R7154:Cyp4a31	UTSW	4	115574766	critical splice donor site	probably null
R7300:Cyp4a31	UTSW	4	115570271	missense	probably benign	0.03
R8188:Cyp4a31	UTSW	4	115569746	missense	probably benign	0.29
R8557:Cyp4a31	UTSW	4	115570241	missense	possibly damaging	0.93
R8692:Cyp4a31	UTSW	4	115566572	missense	probably damaging	0.98
R8696:Cyp4a31	UTSW	4	115565028	missense	probably benign	0.43
R8728:Cyp4a31	UTSW	4	115565028	missense	probably benign	0.43
R8753:Cyp4a31	UTSW	4	115574961	missense	probably benign	0.37
R8822:Cyp4a31	UTSW	4	115565028	missense	probably benign	0.43
R8942:Cyp4a31	UTSW	4	115569721	missense	possibly damaging	0.87
R9230:Cyp4a31	UTSW	4	115571084	nonsense	probably null
R9672:Cyp4a31	UTSW	4	115570225	missense	probably benign	0.05
X0020:Cyp4a31	UTSW	4	115565109	missense	probably benign	0.06
X0021:Cyp4a31	UTSW	4	115577961	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCAAAACTCAGGTTCATCTTTCTCGAT -3'
(R):5'- CCTCAGTCAGAACAGGTAGAGGTCAA -3'

Sequencing Primer
(F):5'- ATACTCCTCACTTGTGTCTCAAGTTC -3'
(R):5'- GGTAGAGGTCAATTGCAACCC -3'

Posted On

2014-01-29