Mutagenetix > Incidental Mutation

Incidental Mutation 'R9195:Acot10'

697919

Institutional Source

Beutler Lab

Gene Symbol

Acot10

Ensembl Gene

ENSMUSG00000047565

Gene Name

acyl-CoA thioesterase 10

Synonyms

MT-ACT48, p48, Acate3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R9195 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20665214-20666750 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 20665431 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Arginine at position 408 (T408R)

Ref Sequence

ENSEMBL: ENSMUSP00000051333 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052910]

AlphaFold

Q32MW3

Predicted Effect

probably damaging
Transcript: ENSMUST00000052910
AA Change: T408R

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

SMART Domains

Protein: ENSMUSP00000051333
Gene: ENSMUSG00000047565
AA Change: T408R

Domain	Start	End	E-Value	Type
SCOP:d1lo7a_	108	222	1e-4	SMART
PDB:4IEN\|D	277	400	3e-6	PDB

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	A	G	19: 29,786,303	I124T		Het
Ak9	A	G	10: 41,407,483	Y1310C		Het
Atp6v1c1	T	A	15: 38,673,954	F64I	probably damaging	Het
Bahcc1	A	G	11: 120,276,511	E1246G	probably benign	Het
Brca2	T	A	5: 150,539,953	S1061T	possibly damaging	Het
Cep83	A	G	10: 94,768,939	R505G	possibly damaging	Het
Clasp2	A	G	9: 113,841,977	E382G	probably benign	Het
Cnksr3	A	T	10: 7,138,379	H235Q	probably damaging	Het
Ctsh	A	T	9: 90,062,762	H90L	probably benign	Het
Cybrd1	G	A	2: 71,138,398	G205D	probably damaging	Het
Cyfip2	A	T	11: 46,270,628	I345N	probably damaging	Het
Ech1	T	C	7: 28,826,021	L67P	probably damaging	Het
Ect2l	T	C	10: 18,143,088	N612S	probably benign	Het
Gm8186	T	A	17: 26,099,118	D35V	probably damaging	Het
Ighv1-15	T	C	12: 114,657,519	H62R	probably benign	Het
Kcns1	A	T	2: 164,167,858	L327Q	probably damaging	Het
Lbr	T	C	1: 181,836,272	K61R	probably benign	Het
Mrpl36	G	A	13: 73,331,379	A3T	unknown	Het
Nectin3	G	A	16: 46,458,896	R240*	probably null	Het
Nek10	T	C	14: 14,821,139	L35P	probably benign	Het
Nr1d1	A	G	11: 98,769,057	V547A	possibly damaging	Het
Obscn	A	T	11: 59,051,214	I4445N	probably damaging	Het
Olfr641	T	C	7: 104,040,138	I114T	probably damaging	Het
Pcdhgb1	T	G	18: 37,681,104	V216G	probably damaging	Het
Pklr	T	C	3: 89,141,329	S100P	probably damaging	Het
R3hdm1	T	A	1: 128,162,238	S70T	probably benign	Het
Rec114	T	G	9: 58,660,251	T151P	probably benign	Het
Riok3	TTTCATT	TTT	18: 12,149,585		probably null	Het
Slc33a1	A	G	3: 63,963,767	S142P	probably damaging	Het
Slc4a4	T	A	5: 89,133,196	N407K	possibly damaging	Het
Slc5a4b	A	G	10: 76,062,315	C522R	probably damaging	Het
Tcim	A	T	8: 24,438,862	M12K	probably damaging	Het
Tenm4	T	A	7: 96,892,919	Y1917N	probably damaging	Het
Ttll1	A	G	15: 83,489,578	Y345H	probably benign	Het
Urb1	A	G	16: 90,792,750	V381A	probably benign	Het
Wnt16	T	C	6: 22,297,933	M266T	probably benign	Het
Zfyve26	T	C	12: 79,264,394	I1562V	probably benign	Het

Other mutations in Acot10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01306:Acot10	APN	15	20665965	missense	probably benign	0.11
IGL01610:Acot10	APN	15	20665695	missense	probably damaging	1.00
IGL02457:Acot10	APN	15	20666143	missense	possibly damaging	0.88
IGL02587:Acot10	APN	15	20665797	missense	possibly damaging	0.93
IGL02951:Acot10	APN	15	20665782	missense	probably benign	0.36
ANU23:Acot10	UTSW	15	20665965	missense	probably benign	0.11
PIT4151001:Acot10	UTSW	15	20666598	missense	probably damaging	0.98
R0026:Acot10	UTSW	15	20666236	missense	probably benign	0.10
R0026:Acot10	UTSW	15	20666236	missense	probably benign	0.10
R0462:Acot10	UTSW	15	20666626	missense	possibly damaging	0.85
R1312:Acot10	UTSW	15	20666499	missense	probably benign	0.00
R1495:Acot10	UTSW	15	20665507	missense	probably damaging	0.99
R2128:Acot10	UTSW	15	20666626	missense	probably benign	0.00
R3779:Acot10	UTSW	15	20665542	missense	probably damaging	0.98
R4110:Acot10	UTSW	15	20666526	missense	probably damaging	1.00
R4111:Acot10	UTSW	15	20666526	missense	probably damaging	1.00
R4464:Acot10	UTSW	15	20665744	nonsense	probably null
R4668:Acot10	UTSW	15	20665942	missense	probably benign
R4933:Acot10	UTSW	15	20666330	missense	possibly damaging	0.88
R5255:Acot10	UTSW	15	20665932	missense	probably benign	0.01
R5885:Acot10	UTSW	15	20666104	missense	probably benign	0.01
R6190:Acot10	UTSW	15	20665785	missense	possibly damaging	0.80
R6301:Acot10	UTSW	15	20666262	missense	probably benign	0.05
R6805:Acot10	UTSW	15	20665366	missense	probably benign	0.42
R7334:Acot10	UTSW	15	20665543	missense	possibly damaging	0.86
R7601:Acot10	UTSW	15	20665629	missense	probably damaging	1.00
R8400:Acot10	UTSW	15	20666172	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- AGGCAAATTTGTGAACAGGTTC -3'
(R):5'- AGAAGCCTGTTGAAGTTGGTTC -3'

Sequencing Primer
(F):5'- GTGAACAGGTTCTTAAAATTCCATG -3'
(R):5'- AAGCCTGTTGAAGTTGGTTCATTGC -3'

Posted On

2022-02-07