Mutagenetix > Incidental Mutation

Incidental Mutation 'R4192:Acot4'

318366

Institutional Source

Beutler Lab

Gene Symbol

Acot4

Ensembl Gene

ENSMUSG00000052392

Gene Name

acyl-CoA thioesterase 4

Synonyms

PTE-Ib, Pte2b, B430212I04Rik

MMRRC Submission

041023-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4192 (G1)

Quality Score

132

Status

Validated

Chromosome

Chromosomal Location

84084028-84091497 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 84089948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021652]

AlphaFold

Q8BWN8

Predicted Effect

probably benign
Transcript: ENSMUST00000021652

SMART Domains

Protein: ENSMUSP00000021652
Gene: ENSMUSG00000052392

Domain	Start	End	E-Value	Type
Pfam:Bile_Hydr_Trans	16	141	3.4e-43	PFAM
low complexity region	148	159	N/A	INTRINSIC
Pfam:Abhydrolase_5	162	361	1e-6	PFAM
Pfam:FSH1	193	364	3.5e-5	PFAM
Pfam:BAAT_C	203	412	1.1e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180751

Predicted Effect

probably benign
Transcript: ENSMUST00000221229

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221860

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	G	T	14: 35,818,536 (GRCm39)	R178L	possibly damaging	Het
Add3	C	A	19: 53,230,955 (GRCm39)	D543E	probably benign	Het
Angpt4	A	C	2: 151,785,238 (GRCm39)	D418A	probably benign	Het
Ano8	A	T	8: 71,935,936 (GRCm39)	V260D	probably damaging	Het
Cfh	C	T	1: 140,030,454 (GRCm39)	R860H	possibly damaging	Het
Csmd3	T	C	15: 47,710,667 (GRCm39)	D1536G	probably damaging	Het
Dnajb9	A	T	12: 44,253,860 (GRCm39)	D182E	probably benign	Het
Epb42	G	T	2: 120,860,570 (GRCm39)		probably null	Het
Fam185a	T	A	5: 21,630,122 (GRCm39)		probably benign	Het
Fer1l6	A	G	15: 58,518,998 (GRCm39)	D1710G	probably damaging	Het
Gabra2	G	A	5: 71,165,341 (GRCm39)	P210S	probably benign	Het
Gm8369	C	T	19: 11,479,596 (GRCm39)	P9S	probably damaging	Het
Il17ra	A	G	6: 120,458,472 (GRCm39)	D541G	probably damaging	Het
Ints4	T	G	7: 97,156,940 (GRCm39)	H337Q	probably damaging	Het
Itgam	A	G	7: 127,663,904 (GRCm39)	T44A	probably benign	Het
Lyst	C	A	13: 13,915,098 (GRCm39)	T3264N	probably damaging	Het
Macf1	A	G	4: 123,366,835 (GRCm39)	F1077S	possibly damaging	Het
Myo3a	T	A	2: 22,412,188 (GRCm39)	F728I	probably damaging	Het
Nacad	T	C	11: 6,555,534 (GRCm39)	E72G	probably benign	Het
Nkain3	G	A	4: 20,485,003 (GRCm39)	Q25*	probably null	Het
Oca2	T	C	7: 55,946,997 (GRCm39)	F342S	probably damaging	Het
Or10d1c	T	A	9: 38,894,313 (GRCm39)	Q9L	probably benign	Het
Osbpl6	T	A	2: 76,415,573 (GRCm39)	L499Q	probably damaging	Het
Pcdhgb8	G	C	18: 37,896,594 (GRCm39)	D555H	probably damaging	Het
Peak1	A	T	9: 56,166,025 (GRCm39)	N634K	probably damaging	Het
Pitpnm3	T	C	11: 71,942,785 (GRCm39)	K818R	possibly damaging	Het
Rab3gap1	T	A	1: 127,853,207 (GRCm39)		probably benign	Het
Rcc1l	T	C	5: 134,184,648 (GRCm39)	T385A	probably benign	Het
Rrm2	T	C	12: 24,758,377 (GRCm39)	I11T	probably benign	Het
Scnn1b	A	G	7: 121,501,962 (GRCm39)	T207A	possibly damaging	Het
Spata31f3	A	T	4: 42,874,185 (GRCm39)		probably benign	Het
Syt12	T	A	19: 4,497,709 (GRCm39)		probably benign	Het
Tmprss6	A	T	15: 78,330,857 (GRCm39)		probably null	Het
Ttbk1	A	T	17: 46,790,173 (GRCm39)	C91S	probably damaging	Het
Ube2q2l	T	C	6: 136,378,435 (GRCm39)	T132A	probably benign	Het
Vit	A	G	17: 78,894,255 (GRCm39)	H219R	probably benign	Het
Vmn1r27	A	C	6: 58,192,812 (GRCm39)	I14R	probably damaging	Het

Other mutations in Acot4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02255:Acot4	APN	12	84,088,799 (GRCm39)	missense	probably damaging	0.98
IGL02806:Acot4	APN	12	84,088,737 (GRCm39)	missense	probably damaging	1.00
IGL02967:Acot4	APN	12	84,090,235 (GRCm39)	missense	probably benign
R1827:Acot4	UTSW	12	84,088,712 (GRCm39)	missense	probably damaging	1.00
R2105:Acot4	UTSW	12	84,085,516 (GRCm39)	missense	probably damaging	1.00
R2509:Acot4	UTSW	12	84,088,647 (GRCm39)	missense	probably damaging	1.00
R2904:Acot4	UTSW	12	84,090,377 (GRCm39)	missense	probably benign	0.31
R3859:Acot4	UTSW	12	84,090,218 (GRCm39)	missense	probably benign	0.17
R3904:Acot4	UTSW	12	84,090,101 (GRCm39)	splice site	probably null
R4190:Acot4	UTSW	12	84,089,948 (GRCm39)	intron	probably benign
R4541:Acot4	UTSW	12	84,090,022 (GRCm39)	missense	probably benign	0.38
R5061:Acot4	UTSW	12	84,085,475 (GRCm39)	missense	probably benign	0.03
R5682:Acot4	UTSW	12	84,085,576 (GRCm39)	missense	probably damaging	1.00
R5864:Acot4	UTSW	12	84,090,178 (GRCm39)	missense	probably benign	0.04
R6818:Acot4	UTSW	12	84,088,783 (GRCm39)	missense	probably damaging	1.00
R7699:Acot4	UTSW	12	84,090,011 (GRCm39)	missense	probably damaging	1.00
R7700:Acot4	UTSW	12	84,090,011 (GRCm39)	missense	probably damaging	1.00
R8260:Acot4	UTSW	12	84,088,809 (GRCm39)	missense	possibly damaging	0.94
R8974:Acot4	UTSW	12	84,090,515 (GRCm39)	missense	probably benign
R9003:Acot4	UTSW	12	84,089,969 (GRCm39)	missense	possibly damaging	0.84
R9246:Acot4	UTSW	12	84,090,097 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCTTTGGTGCTCGGTAAC -3'
(R):5'- AACGGCGGAATCATGGTCTG -3'

Sequencing Primer
(F):5'- GGACAACTTGCAAGAGTCAGTTCTC -3'
(R):5'- CGGAATCATGGTCTGCTTGTAC -3'

Posted On

2015-06-10