Mutagenetix > Incidental Mutation

Incidental Mutation 'R6485:Acot5'

517313

Institutional Source

Beutler Lab

Gene Symbol

Acot5

Ensembl Gene

ENSMUSG00000042540

Gene Name

acyl-CoA thioesterase 5

Synonyms

PTE-Ic

MMRRC Submission

044617-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6485 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84116099-84122794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84122258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 281 (R281W)

Ref Sequence

ENSEMBL: ENSMUSP00000072322 (fasta)

Gene Model

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

AlphaFold

Q6Q2Z6

Predicted Effect

probably damaging
Transcript: ENSMUST00000046422
AA Change: R281W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042019
Gene: ENSMUSG00000042540
AA Change: R281W

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: R281W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072322
Gene: ENSMUSG00000042540
AA Change: R281W

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: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	C	A	7: 120,026,390 (GRCm39)	Y117*	probably null	Het
Adamts20	T	C	15: 94,241,852 (GRCm39)	T719A	probably benign	Het
Arhgap33	T	C	7: 30,223,429 (GRCm39)	T867A	probably benign	Het
Bcl2a1c	T	C	9: 114,159,278 (GRCm39)	Y19H	probably benign	Het
Bod1l	A	G	5: 41,974,459 (GRCm39)	I2285T	possibly damaging	Het
Cacna2d1	A	G	5: 16,559,655 (GRCm39)	Y755C	probably damaging	Het
Cdc27	T	C	11: 104,396,474 (GRCm39)	T816A	probably benign	Het
Clasrp	C	A	7: 19,320,294 (GRCm39)		probably benign	Het
Col6a4	A	G	9: 105,954,069 (GRCm39)		probably null	Het
Cpd	T	C	11: 76,699,533 (GRCm39)		probably null	Het
Crispld2	A	G	8: 120,756,048 (GRCm39)	D339G	probably damaging	Het
Dst	A	G	1: 34,333,610 (GRCm39)	D7046G	probably damaging	Het
Erbin	G	T	13: 104,004,621 (GRCm39)	Q136K	probably damaging	Het
Exph5	G	A	9: 53,287,991 (GRCm39)	E1691K	possibly damaging	Het
Fads6	A	G	11: 115,176,264 (GRCm39)	F187S	probably benign	Het
Foxg1	A	T	12: 49,431,863 (GRCm39)	I199F	probably damaging	Het
Garem1	T	C	18: 21,262,894 (GRCm39)	D640G	probably benign	Het
Gba2	A	C	4: 43,574,118 (GRCm39)	Y112D	probably damaging	Het
Gcfc2	T	C	6: 81,916,528 (GRCm39)	I323T	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gria4	T	A	9: 4,464,249 (GRCm39)	Y571F	probably damaging	Het
Large2	T	C	2: 92,196,373 (GRCm39)	T485A	probably benign	Het
Lonrf1	A	G	8: 36,696,288 (GRCm39)		probably null	Het
Mrgprb5	T	C	7: 47,818,525 (GRCm39)	N70S	probably damaging	Het
Muc2	T	A	7: 141,300,473 (GRCm39)		probably benign	Het
Nol4	T	C	18: 22,903,850 (GRCm39)	D375G	probably damaging	Het
Or2b2	A	G	13: 21,887,600 (GRCm39)	Q143R	probably benign	Het
Pcnt	G	T	10: 76,225,164 (GRCm39)	S1780*	probably null	Het
Pdgfra	A	T	5: 75,335,735 (GRCm39)		probably null	Het
Pgd	A	T	4: 149,240,876 (GRCm39)		probably null	Het
Pla2g6	T	C	15: 79,191,572 (GRCm39)	I279V	probably benign	Het
Ptpn21	A	T	12: 98,665,131 (GRCm39)	C297*	probably null	Het
Ripply1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	TTCCTCCTCCTCCTCCTCCTCCTCCTCCT	X: 138,680,599 (GRCm39)		probably benign	Het
Rtcb	T	C	10: 85,793,508 (GRCm39)	I22V	probably benign	Het
Slc25a30	G	T	14: 76,012,447 (GRCm39)	A67E	probably damaging	Het
Stk11ip	T	C	1: 75,506,612 (GRCm39)	V605A	possibly damaging	Het
Ush1c	A	T	7: 45,858,534 (GRCm39)	S585T	probably benign	Het
Vps13a	T	C	19: 16,657,414 (GRCm39)	D1785G	probably damaging	Het
Zic5	T	A	14: 122,697,052 (GRCm39)	Y521F	unknown	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
R5302:Acot5	UTSW	12	84,120,215 (GRCm39)	missense	probably damaging	0.99
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
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'- TCTTAGGTCAAGGGTCCAGG -3'
(R):5'- GACAATCTGGGGCTTCTCCTTC -3'

Sequencing Primer
(F):5'- CTTAGGTCAAGGGTCCAGGAGTTG -3'
(R):5'- CCTGCAGGCGTTTGGAG -3'

Posted On

2018-05-21