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

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R2426 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115563649-115579015 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115571016 bp (GRCm38)

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
0610010F05Rik	T	A	11: 23,576,801	R190W	probably damaging	Het
Abca14	G	T	7: 120,283,223	V1203L	probably benign	Het
Adamtsl1	G	A	4: 86,156,788	V131I	probably benign	Het
Adgra3	A	T	5: 50,009,449	M187K	possibly damaging	Het
Agbl1	T	C	7: 76,421,902	V324A	probably damaging	Het
Ahnak	A	T	19: 9,002,851	I500F	possibly damaging	Het
Aldh1l1	A	G	6: 90,598,284	D851G	probably damaging	Het
Amot	T	C	X: 145,476,291	K460E	probably damaging	Het
Arhgef3	G	T	14: 27,384,181	E161*	probably null	Het
Atg9b	A	T	5: 24,386,994	I669N	probably damaging	Het
AY761184	T	G	8: 21,702,637	K114N	possibly damaging	Het
Ccdc83	A	G	7: 90,228,431	Y268H	probably damaging	Het
Cep170	A	G	1: 176,774,635	S302P	probably benign	Het
Cyp4v3	T	A	8: 45,317,776	Y231F	probably benign	Het
Dock3	A	T	9: 106,914,541	L1411Q	possibly damaging	Het
Dsg1a	T	A	18: 20,336,804	I629N	probably damaging	Het
Dst	A	T	1: 34,192,812	H2837L	probably benign	Het
Fam114a2	G	A	11: 57,493,080	P343L	probably benign	Het
Fbrs	A	G	7: 127,487,339		probably null	Het
Fbxl13	A	C	5: 21,522,137	D620E	probably damaging	Het
Frmd4a	T	A	2: 4,529,862	S164T	probably damaging	Het
Gdi2	T	G	13: 3,562,034	S330A	probably benign	Het
Gm5878	A	T	6: 85,118,631	M70K	probably benign	Het
H2-Q6	G	T	17: 35,424,937	A21S	probably benign	Het
Hfm1	A	T	5: 106,847,653		probably null	Het
Hnmt	C	T	2: 24,019,155	C82Y	probably benign	Het
Il1rl1	C	A	1: 40,446,619	A310D	probably damaging	Het
Ints1	A	T	5: 139,771,814		probably null	Het
Kcne4	C	A	1: 78,817,971	A112E	possibly damaging	Het
Krt32	T	C	11: 100,086,366	K236R	possibly damaging	Het
Maml2	T	C	9: 13,706,498	L380P	probably damaging	Het
Meis1	A	T	11: 18,988,356	D218E	possibly damaging	Het
Mon1b	G	A	8: 113,639,120	G360D	probably damaging	Het
Mpp4	A	G	1: 59,130,057	S383P	probably damaging	Het
Neb	A	G	2: 52,169,053		probably null	Het
Nlgn2	A	T	11: 69,827,086	I431N	probably damaging	Het
Nr2e1	A	G	10: 42,563,485	L134P	probably damaging	Het
Olfr329-ps	A	T	11: 58,543,094	Y127*	probably null	Het
Olfr371	T	C	8: 85,231,064	S190P	probably damaging	Het
Olfr777	T	C	10: 129,269,266	Q19R	probably benign	Het
Opcml	G	A	9: 28,903,367		probably null	Het
Pate2	A	T	9: 35,670,480		probably null	Het
Pgr	G	A	9: 8,900,717	V84M	probably damaging	Het
Pigu	A	T	2: 155,299,082	V296D	probably damaging	Het
Plcb2	G	A	2: 118,715,649	T555M	probably damaging	Het
Pld5	T	G	1: 175,963,976	D426A	probably benign	Het
Prdm2	G	T	4: 143,111,750	C1679*	probably null	Het
Psme2b	A	T	11: 48,946,063	V19D	probably benign	Het
Ptpn9	A	T	9: 57,027,428	N159Y	possibly damaging	Het
Sdc3	A	T	4: 130,818,803	T64S	unknown	Het
Serping1	T	G	2: 84,770,219	S260R	probably damaging	Het
Slc20a1	T	C	2: 129,208,230	F436S	probably benign	Het
Sntb1	A	T	15: 55,906,179	I138N	probably damaging	Het
Sorcs3	A	T	19: 48,722,925	Y643F	probably damaging	Het
Spink1	G	T	18: 43,735,222	S23*	probably null	Het
Stag1	T	C	9: 100,845,116		probably null	Het
Tnfaip8l1	G	A	17: 56,172,030	V107I	probably benign	Het
Tnik	A	G	3: 28,646,681	S907G	probably damaging	Het
Ttf1	T	A	2: 29,067,185	M489K	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Usp54	G	A	14: 20,564,940	A811V	probably benign	Het
Xirp2	A	G	2: 67,514,471	N2352S	probably benign	Het
Zan	T	C	5: 137,388,992	Y4933C	unknown	Het
Zbtb8a	A	G	4: 129,360,219	S161P	probably benign	Het
Zkscan5	A	T	5: 145,220,940	I751L	probably benign	Het
Zscan4d	A	G	7: 11,165,095	F85S	probably damaging	Het
Zzef1	A	G	11: 72,915,265	M2647V	probably benign	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
R1263:Cyp4a31	UTSW	4	115574711	missense	probably benign	0.01
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
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
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'- ACGTTTGGATTTTCTGGATATCCTC -3'
(R):5'- CCATCCTTAAGGTCAGGTGG -3'

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

Posted On

2014-11-12