Mutagenetix > Incidental Mutation

Incidental Mutation 'R2426:Cyp4a31'

250201

Institutional Source

Beutler Lab

Gene Symbol

Cyp4a31

Ensembl Gene

ENSMUSG00000028712

Gene Name

cytochrome P450, family 4, subfamily a, polypeptide 31

Synonyms

MMRRC Submission

040388-MU

Accession Numbers

Essential gene?

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

Stock #

R2426 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115420846-115436212 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115428213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 303 (M303K)

Ref Sequence

ENSEMBL: ENSMUSP00000030480 (fasta)

Gene Model

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

AlphaFold

F8WGU9

Predicted Effect

probably damaging
Transcript: ENSMUST00000030480
AA Change: M303K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030480
Gene: ENSMUSG00000028712
AA Change: M303K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030486
AA Change: M318K

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030486
Gene: ENSMUSG00000028712
AA Change: M318K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126645
AA Change: M317K

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117129
Gene: ENSMUSG00000028712
AA Change: M317K

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: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	T	7: 119,882,446 (GRCm39)	V1203L	probably benign	Het
Adamtsl1	G	A	4: 86,075,025 (GRCm39)	V131I	probably benign	Het
Adgra3	A	T	5: 50,166,791 (GRCm39)	M187K	possibly damaging	Het
Agbl1	T	C	7: 76,071,650 (GRCm39)	V324A	probably damaging	Het
Ahnak	A	T	19: 8,980,215 (GRCm39)	I500F	possibly damaging	Het
Aldh1l1	A	G	6: 90,575,266 (GRCm39)	D851G	probably damaging	Het
Amot	T	C	X: 144,259,287 (GRCm39)	K460E	probably damaging	Het
Arhgef3	G	T	14: 27,106,138 (GRCm39)	E161*	probably null	Het
Atg9b	A	T	5: 24,591,992 (GRCm39)	I669N	probably damaging	Het
Ccdc83	A	G	7: 89,877,639 (GRCm39)	Y268H	probably damaging	Het
Cep170	A	G	1: 176,602,201 (GRCm39)	S302P	probably benign	Het
Cyp4v3	T	A	8: 45,770,813 (GRCm39)	Y231F	probably benign	Het
Defa39	T	G	8: 22,192,653 (GRCm39)	K114N	possibly damaging	Het
Dock3	A	T	9: 106,791,740 (GRCm39)	L1411Q	possibly damaging	Het
Dsg1a	T	A	18: 20,469,861 (GRCm39)	I629N	probably damaging	Het
Dst	A	T	1: 34,231,893 (GRCm39)	H2837L	probably benign	Het
Fam114a2	G	A	11: 57,383,906 (GRCm39)	P343L	probably benign	Het
Fbrs	A	G	7: 127,086,511 (GRCm39)		probably null	Het
Fbxl13	A	C	5: 21,727,135 (GRCm39)	D620E	probably damaging	Het
Frmd4a	T	A	2: 4,534,673 (GRCm39)	S164T	probably damaging	Het
Gdi2	T	G	13: 3,612,034 (GRCm39)	S330A	probably benign	Het
Gm5878	A	T	6: 85,095,613 (GRCm39)	M70K	probably benign	Het
H2-Q6	G	T	17: 35,643,913 (GRCm39)	A21S	probably benign	Het
Hfm1	A	T	5: 106,995,519 (GRCm39)		probably null	Het
Hnmt	C	T	2: 23,909,167 (GRCm39)	C82Y	probably benign	Het
Il1rl1	C	A	1: 40,485,779 (GRCm39)	A310D	probably damaging	Het
Ints1	A	T	5: 139,757,569 (GRCm39)		probably null	Het
Kcne4	C	A	1: 78,795,688 (GRCm39)	A112E	possibly damaging	Het
Krt32	T	C	11: 99,977,192 (GRCm39)	K236R	possibly damaging	Het
Maml2	T	C	9: 13,617,794 (GRCm39)	L380P	probably damaging	Het
Meis1	A	T	11: 18,938,356 (GRCm39)	D218E	possibly damaging	Het
Mon1b	G	A	8: 114,365,752 (GRCm39)	G360D	probably damaging	Het
Mpp4	A	G	1: 59,169,216 (GRCm39)	S383P	probably damaging	Het
Neb	A	G	2: 52,059,065 (GRCm39)		probably null	Het
Nlgn2	A	T	11: 69,717,912 (GRCm39)	I431N	probably damaging	Het
Nr2e1	A	G	10: 42,439,481 (GRCm39)	L134P	probably damaging	Het
Opcml	G	A	9: 28,814,663 (GRCm39)		probably null	Het
Or2t29	A	T	11: 58,433,920 (GRCm39)	Y127*	probably null	Het
Or6c207	T	C	10: 129,105,135 (GRCm39)	Q19R	probably benign	Het
Or7c19	T	C	8: 85,957,693 (GRCm39)	S190P	probably damaging	Het
Pate2	A	T	9: 35,581,776 (GRCm39)		probably null	Het
Pgr	G	A	9: 8,900,718 (GRCm39)	V84M	probably damaging	Het
Pigu	A	T	2: 155,141,002 (GRCm39)	V296D	probably damaging	Het
Plcb2	G	A	2: 118,546,130 (GRCm39)	T555M	probably damaging	Het
Pld5	T	G	1: 175,791,542 (GRCm39)	D426A	probably benign	Het
Prdm2	G	T	4: 142,838,320 (GRCm39)	C1679*	probably null	Het
Psme2b	A	T	11: 48,836,890 (GRCm39)	V19D	probably benign	Het
Ptpn9	A	T	9: 56,934,712 (GRCm39)	N159Y	possibly damaging	Het
Sanbr	T	A	11: 23,526,801 (GRCm39)	R190W	probably damaging	Het
Sdc3	A	T	4: 130,546,114 (GRCm39)	T64S	unknown	Het
Serping1	T	G	2: 84,600,563 (GRCm39)	S260R	probably damaging	Het
Slc20a1	T	C	2: 129,050,150 (GRCm39)	F436S	probably benign	Het
Sntb1	A	T	15: 55,769,575 (GRCm39)	I138N	probably damaging	Het
Sorcs3	A	T	19: 48,711,364 (GRCm39)	Y643F	probably damaging	Het
Spink1	G	T	18: 43,868,287 (GRCm39)	S23*	probably null	Het
Stag1	T	C	9: 100,727,169 (GRCm39)		probably null	Het
Tnfaip8l1	G	A	17: 56,479,030 (GRCm39)	V107I	probably benign	Het
Tnik	A	G	3: 28,700,830 (GRCm39)	S907G	probably damaging	Het
Ttf1	T	A	2: 28,957,197 (GRCm39)	M489K	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Usp54	G	A	14: 20,615,008 (GRCm39)	A811V	probably benign	Het
Xirp2	A	G	2: 67,344,815 (GRCm39)	N2352S	probably benign	Het
Zan	T	C	5: 137,387,254 (GRCm39)	Y4933C	unknown	Het
Zbtb8a	A	G	4: 129,254,012 (GRCm39)	S161P	probably benign	Het
Zkscan5	A	T	5: 145,157,750 (GRCm39)	I751L	probably benign	Het
Zscan4d	A	G	7: 10,899,022 (GRCm39)	F85S	probably damaging	Het
Zzef1	A	G	11: 72,806,091 (GRCm39)	M2647V	probably benign	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
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
R9230:Cyp4a31	UTSW	4	115,428,281 (GRCm39)	nonsense	probably null
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'- ACGTTTGGATTTTCTGGATATCCTC -3'
(R):5'- CCATCCTTAAGGTCAGGTGG -3'

Sequencing Primer
(F):5'- ATCCTCTTATTTGCCAGAGTGAG -3'
(R):5'- TGAAGACCAGGGGCTCCTC -3'

Posted On

2014-11-12