Mutagenetix > Incidental Mutations

Incidental Mutation 'R0840:Acot5'

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77131

Institutional Source

Beutler Lab

Gene Symbol

Acot5

Ensembl Gene

ENSMUSG00000042540

Gene Name

acyl-CoA thioesterase 5

Synonyms

PTE-Ic

MMRRC Submission

039019-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0840 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84069325-84076020 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 84075840 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 399 (W399*)

Ref Sequence

ENSEMBL: ENSMUSP00000042019 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000046422
AA Change: W399*

SMART Domains

Protein: ENSMUSP00000042019
Gene: ENSMUSG00000042540
AA Change: W399*

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 benign
Transcript: ENSMUST00000072505

SMART Domains

Protein: ENSMUSP00000072322
Gene: ENSMUSG00000042540

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.1%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810020O05Rik	G	T	6: 87,680,278		noncoding transcript	Het
2700049A03Rik	C	G	12: 71,158,883	Q434E	probably benign	Het
A930011G23Rik	T	C	5: 99,234,688	T234A	probably benign	Het
Adra1a	A	G	14: 66,727,710	E383G	possibly damaging	Het
Ahnak	T	A	19: 9,005,063	I1237N	probably damaging	Het
Bsg	A	G	10: 79,709,685	T28A	probably damaging	Het
Cacna1i	A	T	15: 80,358,949	I436F	possibly damaging	Het
Cd109	T	C	9: 78,664,330	I417T	probably benign	Het
Cep295	A	T	9: 15,334,315	D948E	probably benign	Het
Clcn3	C	A	8: 60,929,154	V467F	probably benign	Het
Cntnap3	T	C	13: 64,787,910	S380G	possibly damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dll4	T	A	2: 119,326,485	N79K	probably benign	Het
Ep300	A	T	15: 81,644,933	N1558I	unknown	Het
Fblim1	A	G	4: 141,581,009	F330L	possibly damaging	Het
Fbxo46	T	A	7: 19,137,148	M564K	possibly damaging	Het
Fnip1	T	A	11: 54,493,181		probably benign	Het
Foxl2	A	T	9: 98,955,931	K91*	probably null	Het
Gapvd1	C	A	2: 34,729,113	V83F	probably benign	Het
Guk1	G	A	11: 59,185,095	R146C	probably damaging	Het
Irf8	G	A	8: 120,753,481	G153S	probably benign	Het
Kcnu1	T	A	8: 25,913,684	M1K	probably null	Het
Krt32	G	A	11: 100,081,242	P427S	probably benign	Het
Lrp12	A	G	15: 39,876,158	S529P	probably damaging	Het
Mettl22	T	C	16: 8,482,157	V134A	probably damaging	Het
Morc2b	G	T	17: 33,136,112	H895Q	probably benign	Het
Nrros	T	C	16: 32,143,423	D556G	probably damaging	Het
Nrxn3	A	G	12: 90,331,793	S1367G	possibly damaging	Het
Olfr129	A	G	17: 38,055,572	F7S	probably benign	Het
Olfr504	A	T	7: 108,565,616	S60T	probably benign	Het
Pcnx3	T	A	19: 5,685,701		probably null	Het
Pgap2	A	T	7: 102,237,448	M226L	probably damaging	Het
Pik3c2g	A	G	6: 139,896,072	I616M	probably damaging	Het
Pisd	A	G	5: 32,737,312	I380T	probably damaging	Het
Pkhd1	T	C	1: 20,350,521	I2454V	probably damaging	Het
Plpp2	A	G	10: 79,527,544	I151T	probably benign	Het
Polr3a	G	A	14: 24,452,200	T1295I	possibly damaging	Het
Pot1a	T	C	6: 25,748,284		probably benign	Het
Prpf39	T	G	12: 65,048,206	N219K	probably benign	Het
Rnf17	T	A	14: 56,475,447	N790K	probably damaging	Het
Slit3	C	T	11: 35,623,436		probably benign	Het
Stx1a	T	A	5: 135,041,234		probably benign	Het
Tenm3	C	A	8: 48,335,742	V690F	probably damaging	Het
Tmcc3	A	G	10: 94,578,771	I143V	probably benign	Het
Tmem41b	G	A	7: 109,981,049	S36F	probably damaging	Het
Trim5	A	T	7: 104,265,771	W364R	probably damaging	Het
Ttn	T	C	2: 76,786,811	Y16403C	probably damaging	Het
Vps8	T	C	16: 21,456,321	S210P	probably damaging	Het
Zbtb3	T	A	19: 8,803,457	S145T	possibly damaging	Het
Zfp882	T	A	8: 71,914,686	C452*	probably null	Het

Other mutations in Acot5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01394:Acot5	APN	12	84075488	missense	probably benign	0.01
IGL01978:Acot5	APN	12	84075398	missense	possibly damaging	0.90
IGL03175:Acot5	APN	12	84075329	missense	probably damaging	1.00
R1720:Acot5	UTSW	12	84075881	missense	probably benign
R1735:Acot5	UTSW	12	84075487	missense	probably benign	0.38
R2258:Acot5	UTSW	12	84075869	missense	possibly damaging	0.94
R2260:Acot5	UTSW	12	84075869	missense	possibly damaging	0.94
R2307:Acot5	UTSW	12	84075601	missense	possibly damaging	0.90
R2655:Acot5	UTSW	12	84075876	missense	probably benign	0.00
R5291:Acot5	UTSW	12	84073519	missense	probably benign	0.04
R5302:Acot5	UTSW	12	84073441	missense	probably damaging	0.99
R5545:Acot5	UTSW	12	84069606	missense	possibly damaging	0.69
R5999:Acot5	UTSW	12	84075554	missense	probably benign	0.00
R6485:Acot5	UTSW	12	84075484	missense	probably damaging	1.00
R7554:Acot5	UTSW	12	84073480	missense	probably damaging	1.00
R7663:Acot5	UTSW	12	84069581	missense	probably damaging	0.97
R7833:Acot5	UTSW	12	84075827	missense	probably damaging	1.00
Z1177:Acot5	UTSW	12	84069894	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- AGAAGCCCCAGATTGTCTGCTACC -3'
(R):5'- TCACTGCCTGCTAAGGCACAATG -3'

Sequencing Primer
(F):5'- GATTGTCTGCTACCCCAAAACAG -3'
(R):5'- ggctcagtccttggcatc -3'

Posted On

2013-10-16