Mutagenetix > Incidental Mutation

Incidental Mutation 'R9230:Cyp4a31'

700158

Institutional Source

Beutler Lab

Gene Symbol

Cyp4a31

Ensembl Gene

ENSMUSG00000028712

Gene Name

cytochrome P450, family 4, subfamily a, polypeptide 31

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R9230 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115420846-115436212 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 115428281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 326 (E326*)

Ref Sequence

ENSEMBL: ENSMUSP00000030480 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030480] [ENSMUST00000030486] [ENSMUST00000126645] [ENSMUST00000141033]

AlphaFold

F8WGU9

Predicted Effect

probably null
Transcript: ENSMUST00000030480
AA Change: E326*

SMART Domains

Protein: ENSMUSP00000030480
Gene: ENSMUSG00000028712
AA Change: E326*

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

Predicted Effect

probably null
Transcript: ENSMUST00000030486
AA Change: E341*

SMART Domains

Protein: ENSMUSP00000030486
Gene: ENSMUSG00000028712
AA Change: E341*

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

Predicted Effect

probably null
Transcript: ENSMUST00000126645
AA Change: E340*

SMART Domains

Protein: ENSMUSP00000117129
Gene: ENSMUSG00000028712
AA Change: E340*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000141033

SMART Domains

Protein: ENSMUSP00000115628
Gene: ENSMUSG00000028712

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
Pfam:p450	51	155	2.9e-17	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	T	10: 77,157,626 (GRCm39)	F274I	probably damaging	Het
Aen	T	A	7: 78,552,107 (GRCm39)	D22E	probably damaging	Het
Appl1	T	C	14: 26,645,692 (GRCm39)	E706G	unknown	Het
Arhgap21	T	C	2: 20,860,469 (GRCm39)	T1313A	possibly damaging	Het
Armc2	T	C	10: 41,823,935 (GRCm39)	Y511C	probably damaging	Het
Bsn	T	C	9: 107,989,459 (GRCm39)	T2098A	probably damaging	Het
Cacna1h	T	C	17: 25,599,856 (GRCm39)	Y1659C	probably damaging	Het
Catsperb	T	C	12: 101,516,053 (GRCm39)	I563T	probably benign	Het
Cblif	G	A	19: 11,737,748 (GRCm39)	W386*	probably null	Het
Cd180	TA	TAA	13: 102,841,514 (GRCm39)		probably null	Het
Cd55b	A	T	1: 130,350,619 (GRCm39)	L26*	probably null	Het
Cdc42bpa	A	G	1: 179,933,638 (GRCm39)	N759S	probably benign	Het
Chrm3	C	A	13: 9,928,479 (GRCm39)	V186L	probably benign	Het
Clrn2	A	G	5: 45,621,283 (GRCm39)	T226A	probably damaging	Het
Col3a1	C	T	1: 45,383,138 (GRCm39)	P1071S	unknown	Het
Csgalnact2	A	G	6: 118,103,212 (GRCm39)	L250P	probably damaging	Het
Def8	A	G	8: 124,186,317 (GRCm39)	E352G	probably benign	Het
Dmbt1	A	G	7: 130,639,642 (GRCm39)	D60G	probably benign	Het
Dock3	A	G	9: 106,807,223 (GRCm39)	L1368P	probably damaging	Het
Dytn	A	T	1: 63,686,611 (GRCm39)	V353D	probably benign	Het
Egfem1	G	A	3: 29,411,317 (GRCm39)	E155K	probably benign	Het
Eif3m	A	T	2: 104,831,705 (GRCm39)	M285K	probably damaging	Het
Fam135b	T	C	15: 71,335,856 (GRCm39)	K446R	probably benign	Het
Fbxo22	T	C	9: 55,116,442 (GRCm39)	L36P	probably damaging	Het
Frmd4a	T	C	2: 4,612,844 (GRCm39)	S1025P	possibly damaging	Het
Gja8	C	T	3: 96,826,664 (GRCm39)	V333M	possibly damaging	Het
Glis1	T	C	4: 107,425,327 (GRCm39)	S313P	probably benign	Het
Grid2ip	G	A	5: 143,359,194 (GRCm39)	R270Q	probably damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Hspa4	T	C	11: 53,171,466 (GRCm39)	E246G	probably benign	Het
Ibtk	A	G	9: 85,585,702 (GRCm39)		probably null	Het
Ifit1	A	G	19: 34,625,236 (GRCm39)	E124G	possibly damaging	Het
Ifna14	T	C	4: 88,489,752 (GRCm39)	D95G	probably benign	Het
Igsf10	G	A	3: 59,243,843 (GRCm39)	R164W	probably damaging	Het
Ilkap	A	C	1: 91,314,937 (GRCm39)	I142S	probably benign	Het
Insyn2a	A	T	7: 134,520,439 (GRCm39)	Y30*	probably null	Het
Kctd14	C	G	7: 97,104,104 (GRCm39)	P53R	unknown	Het
Kndc1	A	T	7: 139,500,600 (GRCm39)	D655V	probably damaging	Het
Krt1c	A	C	15: 101,725,948 (GRCm39)	S197A	probably benign	Het
Lpin1	A	T	12: 16,588,483 (GRCm39)	S902R	unknown	Het
Mapk13	T	C	17: 28,994,532 (GRCm39)	I141T	probably damaging	Het
Micall2	A	G	5: 139,701,827 (GRCm39)	V472A	unknown	Het
Mmp15	T	C	8: 96,092,959 (GRCm39)	F113L	probably benign	Het
Msantd5f6	C	T	4: 73,319,685 (GRCm39)	A264T	probably benign	Het
Msh2	T	G	17: 88,026,717 (GRCm39)	S738A	probably benign	Het
Muc20	T	G	16: 32,613,584 (GRCm39)	T598P	probably damaging	Het
Myo1f	T	C	17: 33,795,424 (GRCm39)	V53A	probably damaging	Het
Ncf1	A	T	5: 134,250,718 (GRCm39)	N367K	probably benign	Het
Nme8	T	G	13: 19,874,384 (GRCm39)	I139L	probably benign	Het
Odam	T	C	5: 88,034,457 (GRCm39)	F46L	probably benign	Het
Or51a25	C	A	7: 102,372,795 (GRCm39)	V301F	possibly damaging	Het
Or7a42	G	A	10: 78,791,929 (GRCm39)	D297N	possibly damaging	Het
Pcare	A	G	17: 72,057,217 (GRCm39)	L820P	probably damaging	Het
Pi4ka	A	G	16: 17,099,788 (GRCm39)	I1945T		Het
Rbmyf9	T	G	Y: 3,774,819 (GRCm39)	D5E	probably damaging	Het
Rell1	T	C	5: 64,097,105 (GRCm39)		probably benign	Het
Ripk3	A	G	14: 56,023,303 (GRCm39)	F134S	probably benign	Het
Sclt1	A	T	3: 41,665,631 (GRCm39)	W146R	probably benign	Het
Slc18a2	T	C	19: 59,261,647 (GRCm39)	M178T	probably benign	Het
Slc24a5	G	T	2: 124,922,568 (GRCm39)	G110V	probably damaging	Het
Slc38a10	T	A	11: 119,996,781 (GRCm39)	D772V	probably benign	Het
Slc9c1	T	C	16: 45,398,275 (GRCm39)	L680P	possibly damaging	Het
Tll2	T	A	19: 41,093,436 (GRCm39)	Y477F	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tnrc18	G	T	5: 142,773,392 (GRCm39)	A479D		Het
Topaz1	T	A	9: 122,596,097 (GRCm39)	M956K	probably benign	Het
Vmn2r56	T	A	7: 12,444,237 (GRCm39)	D465V	possibly damaging	Het
Xndc1	T	A	7: 101,722,476 (GRCm39)	V47E	probably damaging	Het

Other mutations in Cyp4a31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Cyp4a31	APN	4	115,432,171 (GRCm39)	unclassified	probably benign
IGL01682:Cyp4a31	APN	4	115,435,228 (GRCm39)	missense	probably damaging	0.97
IGL02112:Cyp4a31	APN	4	115,428,180 (GRCm39)	missense	probably damaging	1.00
IGL02292:Cyp4a31	APN	4	115,423,698 (GRCm39)	missense	probably damaging	0.98
IGL02343:Cyp4a31	APN	4	115,421,026 (GRCm39)	missense	probably damaging	1.00
IGL02508:Cyp4a31	APN	4	115,428,261 (GRCm39)	missense	probably damaging	1.00
IGL03094:Cyp4a31	APN	4	115,435,305 (GRCm39)	utr 3 prime	probably benign
IGL03493:Cyp4a31	APN	4	115,427,952 (GRCm39)	splice site	probably null
R0400:Cyp4a31	UTSW	4	115,420,915 (GRCm39)	start codon destroyed	probably null	1.00
R1263:Cyp4a31	UTSW	4	115,431,908 (GRCm39)	missense	probably benign	0.01
R1508:Cyp4a31	UTSW	4	115,422,250 (GRCm39)	missense	possibly damaging	0.53
R1523:Cyp4a31	UTSW	4	115,426,951 (GRCm39)	missense	probably benign	0.23
R1822:Cyp4a31	UTSW	4	115,423,810 (GRCm39)	splice site	probably null
R1832:Cyp4a31	UTSW	4	115,426,928 (GRCm39)	missense	probably benign
R1872:Cyp4a31	UTSW	4	115,431,933 (GRCm39)	missense	probably damaging	0.99
R2351:Cyp4a31	UTSW	4	115,428,510 (GRCm39)	missense	possibly damaging	0.95
R2426:Cyp4a31	UTSW	4	115,428,213 (GRCm39)	missense	probably damaging	0.98
R2993:Cyp4a31	UTSW	4	115,427,017 (GRCm39)	missense	probably benign	0.03
R3743:Cyp4a31	UTSW	4	115,423,716 (GRCm39)	missense	possibly damaging	0.95
R3812:Cyp4a31	UTSW	4	115,423,706 (GRCm39)	missense	probably benign
R3963:Cyp4a31	UTSW	4	115,431,969 (GRCm39)	unclassified	probably benign
R4211:Cyp4a31	UTSW	4	115,422,210 (GRCm39)	missense	probably benign	0.01
R4814:Cyp4a31	UTSW	4	115,427,466 (GRCm39)	missense	probably damaging	1.00
R6245:Cyp4a31	UTSW	4	115,428,545 (GRCm39)	missense	possibly damaging	0.91
R6255:Cyp4a31	UTSW	4	115,432,117 (GRCm39)	missense	possibly damaging	0.82
R6330:Cyp4a31	UTSW	4	115,421,074 (GRCm39)	missense	probably damaging	0.99
R6433:Cyp4a31	UTSW	4	115,427,466 (GRCm39)	missense	probably damaging	1.00
R6602:Cyp4a31	UTSW	4	115,426,904 (GRCm39)	critical splice acceptor site	probably null
R6844:Cyp4a31	UTSW	4	115,420,989 (GRCm39)	missense	probably null	0.00
R7154:Cyp4a31	UTSW	4	115,431,963 (GRCm39)	critical splice donor site	probably null
R7300:Cyp4a31	UTSW	4	115,427,468 (GRCm39)	missense	probably benign	0.03
R8188:Cyp4a31	UTSW	4	115,426,943 (GRCm39)	missense	probably benign	0.29
R8557:Cyp4a31	UTSW	4	115,427,438 (GRCm39)	missense	possibly damaging	0.93
R8692:Cyp4a31	UTSW	4	115,423,769 (GRCm39)	missense	probably damaging	0.98
R8696:Cyp4a31	UTSW	4	115,422,225 (GRCm39)	missense	probably benign	0.43
R8728:Cyp4a31	UTSW	4	115,422,225 (GRCm39)	missense	probably benign	0.43
R8753:Cyp4a31	UTSW	4	115,432,158 (GRCm39)	missense	probably benign	0.37
R8822:Cyp4a31	UTSW	4	115,422,225 (GRCm39)	missense	probably benign	0.43
R8942:Cyp4a31	UTSW	4	115,426,918 (GRCm39)	missense	possibly damaging	0.87
R9672:Cyp4a31	UTSW	4	115,427,422 (GRCm39)	missense	probably benign	0.05
X0020:Cyp4a31	UTSW	4	115,422,306 (GRCm39)	missense	probably benign	0.06
X0021:Cyp4a31	UTSW	4	115,435,158 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGAGAGTCTTCCTGGGAACAC -3'
(R):5'- CCTCCTTGATGCACATTGTG -3'

Sequencing Primer
(F):5'- GTCTTCCTGGGAACACACAAGG -3'
(R):5'- CCTCCTTGATGCACATTGTGGTATAG -3'

Posted On

2022-02-07