Mutagenetix > Incidental Mutation

Incidental Mutation 'R5302:Acot5'

404311

Institutional Source

Beutler Lab

Gene Symbol

Acot5

Ensembl Gene

ENSMUSG00000042540

Gene Name

acyl-CoA thioesterase 5

Synonyms

PTE-Ic

MMRRC Submission

042885-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5302 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84116099-84122794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84120215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 190 (Y190C)

Ref Sequence

ENSEMBL: ENSMUSP00000042019 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046422] [ENSMUST00000072505]

AlphaFold

Q6Q2Z6

Predicted Effect

probably damaging
Transcript: ENSMUST00000046422
AA Change: Y190C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000042019
Gene: ENSMUSG00000042540
AA Change: Y190C

Domain	Start	End	E-Value	Type
Pfam:Bile_Hydr_Trans	16	141	7.4e-44	PFAM
low complexity region	147	161	N/A	INTRINSIC
Pfam:BAAT_C	203	412	3.5e-83	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000072505
AA Change: Y190C

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072322
Gene: ENSMUSG00000042540
AA Change: Y190C

Domain	Start	End	E-Value	Type
Pfam:Bile_Hydr_Trans	15	142	1.6e-42	PFAM
low complexity region	147	161	N/A	INTRINSIC
Pfam:BAAT_C	203	313	1.4e-29	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,323,111 (GRCm39)	V1657A	possibly damaging	Het
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Ascc3	T	A	10: 50,583,873 (GRCm39)	Y941N	probably benign	Het
BC035947	A	T	1: 78,488,599 (GRCm39)	M1K	probably null	Het
C2cd5	A	G	6: 143,019,482 (GRCm39)	C278R	probably benign	Het
Cd200r1	G	T	16: 44,613,172 (GRCm39)	L259F	possibly damaging	Het
Clcn4	A	G	7: 7,297,050 (GRCm39)	V136A	possibly damaging	Het
Cntnap5a	T	C	1: 116,085,300 (GRCm39)	S413P	probably benign	Het
Corin	T	A	5: 72,473,441 (GRCm39)	E748D	probably benign	Het
Crtc2	G	T	3: 90,168,325 (GRCm39)	G356V	probably damaging	Het
D1Pas1	T	A	1: 186,701,642 (GRCm39)	Y524N	probably damaging	Het
Dlgap4	T	C	2: 156,602,818 (GRCm39)	S147P	probably damaging	Het
Eif1ad16	T	A	12: 87,985,316 (GRCm39)	I76F	probably damaging	Het
Enpp1	A	T	10: 24,527,288 (GRCm39)	I633N	probably benign	Het
Gm3095	A	G	14: 15,170,367 (GRCm39)	D72G	probably null	Het
Gm5449	C	T	13: 53,679,787 (GRCm39)		noncoding transcript	Het
Gpx7	T	C	4: 108,258,111 (GRCm39)	T161A	probably benign	Het
Grip1	T	C	10: 119,855,982 (GRCm39)	L236P	probably damaging	Het
H2-Q2	G	T	17: 35,563,885 (GRCm39)	R255S	probably damaging	Het
Il17rc	G	T	6: 113,459,997 (GRCm39)	A648S	possibly damaging	Het
Klhl12	A	G	1: 134,417,189 (GRCm39)	E540G	possibly damaging	Het
Mcm10	T	C	2: 5,012,181 (GRCm39)	I135V	probably benign	Het
Mrps26	C	A	2: 130,406,087 (GRCm39)	T100K	probably benign	Het
Nid2	A	G	14: 19,829,769 (GRCm39)	T687A	probably benign	Het
Npas3	A	T	12: 54,115,619 (GRCm39)	D829V	probably damaging	Het
Ocln	T	C	13: 100,642,807 (GRCm39)	D176G	probably damaging	Het
Or11h6	A	G	14: 50,879,776 (GRCm39)		probably null	Het
Pax3	A	C	1: 78,098,249 (GRCm39)	M380R	possibly damaging	Het
Pcdha3	A	G	18: 37,081,208 (GRCm39)	E650G	probably damaging	Het
Pdcd11	C	A	19: 47,096,083 (GRCm39)	H668N	probably damaging	Het
Polr3b	T	C	10: 84,535,264 (GRCm39)	Y858H	possibly damaging	Het
Pus10	T	C	11: 23,617,416 (GRCm39)		probably null	Het
Raver1	T	C	9: 20,986,677 (GRCm39)	D739G	probably damaging	Het
Skic3	G	A	13: 76,295,886 (GRCm39)	E1050K	possibly damaging	Het
Slc26a11	T	C	11: 119,254,276 (GRCm39)	L198P	probably damaging	Het
Slc44a3	A	G	3: 121,303,962 (GRCm39)	V258A	probably damaging	Het
Socs7	T	A	11: 97,280,025 (GRCm39)	I524N	probably damaging	Het
Steap4	T	A	5: 8,025,547 (GRCm39)	L36*	probably null	Het
Svep1	G	C	4: 58,096,183 (GRCm39)	T1479S	possibly damaging	Het
Ttn	C	A	2: 76,547,619 (GRCm39)	V32184F	probably damaging	Het
Vmn1r22	T	C	6: 57,877,960 (GRCm39)	N6D	possibly damaging	Het

Other mutations in Acot5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01394:Acot5	APN	12	84,122,262 (GRCm39)	missense	probably benign	0.01
IGL01978:Acot5	APN	12	84,122,172 (GRCm39)	missense	possibly damaging	0.90
IGL03175:Acot5	APN	12	84,122,103 (GRCm39)	missense	probably damaging	1.00
R0840:Acot5	UTSW	12	84,122,614 (GRCm39)	nonsense	probably null
R1720:Acot5	UTSW	12	84,122,655 (GRCm39)	missense	probably benign
R1735:Acot5	UTSW	12	84,122,261 (GRCm39)	missense	probably benign	0.38
R2258:Acot5	UTSW	12	84,122,643 (GRCm39)	missense	possibly damaging	0.94
R2260:Acot5	UTSW	12	84,122,643 (GRCm39)	missense	possibly damaging	0.94
R2307:Acot5	UTSW	12	84,122,375 (GRCm39)	missense	possibly damaging	0.90
R2655:Acot5	UTSW	12	84,122,650 (GRCm39)	missense	probably benign	0.00
R5291:Acot5	UTSW	12	84,120,293 (GRCm39)	missense	probably benign	0.04
R5545:Acot5	UTSW	12	84,116,380 (GRCm39)	missense	possibly damaging	0.69
R5999:Acot5	UTSW	12	84,122,328 (GRCm39)	missense	probably benign	0.00
R6485:Acot5	UTSW	12	84,122,258 (GRCm39)	missense	probably damaging	1.00
R7554:Acot5	UTSW	12	84,120,254 (GRCm39)	missense	probably damaging	1.00
R7663:Acot5	UTSW	12	84,116,355 (GRCm39)	missense	probably damaging	0.97
R7833:Acot5	UTSW	12	84,122,601 (GRCm39)	missense	probably damaging	1.00
R9005:Acot5	UTSW	12	84,116,630 (GRCm39)	missense
Z1177:Acot5	UTSW	12	84,116,668 (GRCm39)	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- TATCTGTACAAAGAAGGGCCG -3'
(R):5'- GACTGTGTCTCAGAAACTAGGTTG -3'

Sequencing Primer
(F):5'- AGCAGCTGACATCCTCGATG -3'
(R):5'- ACTAGGTTGAAAGTCCCGCCTTG -3'

Posted On

2016-07-22