Mutagenetix > Incidental Mutation

Incidental Mutation 'R6602:Cyp4a31'

525336

Institutional Source

Beutler Lab

Gene Symbol

Cyp4a31

Ensembl Gene

ENSMUSG00000028712

Gene Name

cytochrome P450, family 4, subfamily a, polypeptide 31

Synonyms

Accession Numbers

Essential gene?

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

Stock #

R6602 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115563649-115579015 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 115569707 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117129 (fasta)

Gene Model

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

AlphaFold

F8WGU9

Predicted Effect

probably null
Transcript: ENSMUST00000030480

SMART Domains

Protein: ENSMUSP00000030480
Gene: ENSMUSG00000028712

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

SMART Domains

Protein: ENSMUSP00000030486
Gene: ENSMUSG00000028712

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

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

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: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	G	8: 124,639,254	L250P	probably damaging	Het
4921539E11Rik	T	C	4: 103,255,572	H12R	probably benign	Het
Abca4	A	C	3: 122,138,501	Q268P	probably benign	Het
Adgrf5	T	A	17: 43,450,304	N963K	probably benign	Het
Arl10	A	G	13: 54,578,937	D176G	probably damaging	Het
Btnl1	T	A	17: 34,385,748	M501K	probably damaging	Het
Ccdc162	G	T	10: 41,615,980	T1079K	probably benign	Het
Cd163	T	A	6: 124,311,635	W342R	probably damaging	Het
Cd70	T	C	17: 57,149,562	S14G	probably benign	Het
Chil4	C	A	3: 106,210,590	K121N	probably benign	Het
Csf1r	A	G	18: 61,110,425	D171G	possibly damaging	Het
D3Ertd254e	G	T	3: 36,164,855	L341F	possibly damaging	Het
Dapk1	A	T	13: 60,749,204	I746F	probably benign	Het
Erbb4	A	G	1: 68,370,503	S192P	probably damaging	Het
Exoc8	C	A	8: 124,896,411	V406L	probably damaging	Het
Fam168b	C	A	1: 34,836,741	G21V	probably damaging	Het
Greb1	A	T	12: 16,709,440	V652E	probably benign	Het
Ift88	A	G	14: 57,507,259	S745G	probably benign	Het
Il18bp	T	C	7: 102,016,030		probably benign	Het
Il6st	A	G	13: 112,504,413	T908A	probably damaging	Het
Klk11	A	G	7: 43,774,774	S6G	probably benign	Het
Mastl	T	C	2: 23,132,677	Y678C	probably benign	Het
Msra	A	T	14: 64,123,339	H184Q	probably benign	Het
Muc16	A	C	9: 18,609,476		probably null	Het
Myo3a	T	G	2: 22,577,787	L351R	probably damaging	Het
Npy5r	GCTGTGAAACACTG	GCTG	8: 66,681,540		probably null	Het
Olfr463	T	C	11: 87,893,652	T91A	probably benign	Het
Olfr830	A	G	9: 18,875,849	D174G	possibly damaging	Het
Olfr867	C	T	9: 20,055,046	R139Q	probably benign	Het
Pcdhb18	A	T	18: 37,490,480	I288F	probably damaging	Het
Pitpna	T	G	11: 75,620,315	V238G	possibly damaging	Het
Ppfibp1	T	A	6: 146,978,221	V81E	possibly damaging	Het
Rab11fip2	T	A	19: 59,942,856	T49S	probably damaging	Het
Rsl24d1	T	A	9: 73,113,510	I3N	possibly damaging	Het
Rtn1	T	C	12: 72,219,318	N161S	probably damaging	Het
Shank1	A	G	7: 44,352,336	I1151V	probably benign	Het
Slc34a3	A	G	2: 25,229,209	S550P	probably damaging	Het
Slc4a1ap	A	G	5: 31,527,641	H207R	probably damaging	Het
Sphkap	T	A	1: 83,275,758	K1423N	possibly damaging	Het
Ttn	A	G	2: 76,881,753		probably benign	Het
Ubqln5	T	A	7: 104,129,489	S43C	probably benign	Het
Vps13d	G	A	4: 145,103,664		probably benign	Het
Wwp1	A	T	4: 19,641,816	V413D	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
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
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
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'- CTGAGCTCAGCTTCCCATAC -3'
(R):5'- TTGGTAAGACAAAGGCCGTG -3'

Sequencing Primer
(F):5'- TGAGCTCAGCTTCCCATACACTAATG -3'
(R):5'- GTGAAGTTCAAGGCTTGTCACTCAC -3'

Posted On

2018-06-22