Mutagenetix > Incidental Mutation

Incidental Mutation 'R3912:Acot1'

309475

Institutional Source

Beutler Lab

Gene Symbol

Acot1

Ensembl Gene

ENSMUSG00000072949

Gene Name

acyl-CoA thioesterase 1

Synonyms

Cte1, CTE-1, ACH2, CTE-I, D12Ucla1

MMRRC Submission

040910-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R3912 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84056276-84064444 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84063806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 305 (S305G)

Ref Sequence

ENSEMBL: ENSMUSP00000126448 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168120]

AlphaFold

O55137

Predicted Effect

probably damaging
Transcript: ENSMUST00000168120
AA Change: S305G

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

SMART Domains

Protein: ENSMUSP00000126448
Gene: ENSMUSG00000072949
AA Change: S305G

Domain	Start	End	E-Value	Type
Pfam:Bile_Hydr_Trans	16	141	4.5e-46	PFAM
Pfam:DLH	144	408	2.9e-9	PFAM
Pfam:BAAT_C	203	410	3.1e-86	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000220901

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222862

Meta Mutation Damage Score

0.3845

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	A	G	13: 91,918,208 (GRCm39)	D167G	probably benign	Het
Adgra1	T	C	7: 139,425,630 (GRCm39)		probably null	Het
Adh7	T	A	3: 137,927,541 (GRCm39)	V29E	probably damaging	Het
Aopep	G	T	13: 63,304,520 (GRCm39)	E402*	probably null	Het
Atp2c2	A	G	8: 120,448,015 (GRCm39)	K103E	probably damaging	Het
Camkk1	A	G	11: 72,924,642 (GRCm39)	D285G	probably benign	Het
Ccdc158	G	C	5: 92,796,794 (GRCm39)	T514S	possibly damaging	Het
Cdhr5	T	A	7: 140,853,770 (GRCm39)	D210V	probably damaging	Het
Cndp1	C	T	18: 84,650,124 (GRCm39)	D190N	probably benign	Het
Eepd1	C	T	9: 25,394,600 (GRCm39)	T288M	probably damaging	Het
Erbin	G	T	13: 103,998,795 (GRCm39)	T197K	probably benign	Het
Erbin	G	A	13: 104,022,846 (GRCm39)		probably benign	Het
Fnip2	A	T	3: 79,386,812 (GRCm39)	D971E	possibly damaging	Het
Gab2	A	G	7: 96,948,280 (GRCm39)	Y290C	probably damaging	Het
Gbp3	C	T	3: 142,272,099 (GRCm39)		probably benign	Het
Gm14326	T	C	2: 177,587,658 (GRCm39)	K446R	probably damaging	Het
Herc2	T	C	7: 55,748,185 (GRCm39)	Y518H	probably damaging	Het
Id2	T	A	12: 25,145,871 (GRCm39)	K47*	probably null	Het
Ilf2	A	G	3: 90,394,367 (GRCm39)	N295S	probably benign	Het
Ilf3	C	T	9: 21,309,422 (GRCm39)	A526V	possibly damaging	Het
Ints10	T	A	8: 69,266,272 (GRCm39)	S478T	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrrc7	G	A	3: 157,997,589 (GRCm39)	L158F	probably damaging	Het
Mroh9	C	T	1: 162,893,638 (GRCm39)	C179Y	probably damaging	Het
Mrps18b	C	T	17: 36,221,831 (GRCm39)	V165I	probably benign	Het
Myrip	A	G	9: 120,261,682 (GRCm39)	S432G	probably benign	Het
Nutm2	C	T	13: 50,626,976 (GRCm39)	A377V	possibly damaging	Het
Or2ag18	A	T	7: 106,405,072 (GRCm39)	V199D	probably damaging	Het
Pate4	C	A	9: 35,523,140 (GRCm39)	M1I	probably null	Het
Pax7	C	A	4: 139,508,209 (GRCm39)	W272L	probably benign	Het
Ppp1r12b	C	T	1: 134,815,056 (GRCm39)	E320K	probably damaging	Het
Prg4	T	C	1: 150,327,619 (GRCm39)	Y278C	probably damaging	Het
Pvr	T	C	7: 19,643,217 (GRCm39)	N339D	probably benign	Het
Rev3l	A	G	10: 39,696,552 (GRCm39)	I521M	probably damaging	Het
Ryr2	A	G	13: 11,787,313 (GRCm39)	I1020T	probably damaging	Het
Scn4a	T	A	11: 106,211,542 (GRCm39)	I1492F	probably damaging	Het
Sec16a	C	T	2: 26,304,399 (GRCm39)	G2304D	probably damaging	Het
Shisa7	T	A	7: 4,833,239 (GRCm39)	R341*	probably null	Het
Slc19a3	T	A	1: 83,000,424 (GRCm39)	M198L	probably benign	Het
Slc26a8	T	A	17: 28,863,753 (GRCm39)	N669Y	possibly damaging	Het
Slco1a7	A	G	6: 141,673,362 (GRCm39)	F392S	probably damaging	Het
Snap91	T	C	9: 86,674,610 (GRCm39)	T534A	possibly damaging	Het
Susd4	A	T	1: 182,715,031 (GRCm39)	Y284F	probably damaging	Het
Tas1r1	A	T	4: 152,116,381 (GRCm39)	Y418N	probably damaging	Het
Tdrd12	A	G	7: 35,187,138 (GRCm39)	I584T	probably damaging	Het
Tmtc3	A	C	10: 100,284,888 (GRCm39)	N582K	probably damaging	Het
Tnfrsf11b	G	A	15: 54,119,578 (GRCm39)		probably benign	Het
Trim30a	A	G	7: 104,060,348 (GRCm39)	V476A	probably damaging	Het
Vmn1r39	C	T	6: 66,782,125 (GRCm39)	M27I	probably benign	Het
Vmn2r59	T	C	7: 41,695,744 (GRCm39)	T223A	probably benign	Het
Vps35l	A	G	7: 118,345,613 (GRCm39)	T49A	possibly damaging	Het
Vwa5a	T	C	9: 38,646,039 (GRCm39)	I469T	probably damaging	Het
Wnt3a	A	C	11: 59,140,828 (GRCm39)	D229E	possibly damaging	Het

Other mutations in Acot1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02228:Acot1	APN	12	84,063,738 (GRCm39)	missense	probably benign	0.01
IGL03151:Acot1	APN	12	84,061,326 (GRCm39)	missense	probably damaging	1.00
R0089:Acot1	UTSW	12	84,063,708 (GRCm39)	missense	probably damaging	0.96
R0454:Acot1	UTSW	12	84,064,113 (GRCm39)	missense	probably benign	0.03
R1051:Acot1	UTSW	12	84,056,378 (GRCm39)	missense	probably damaging	0.98
R1998:Acot1	UTSW	12	84,056,527 (GRCm39)	missense	probably damaging	1.00
R1999:Acot1	UTSW	12	84,056,527 (GRCm39)	missense	probably damaging	1.00
R3825:Acot1	UTSW	12	84,061,194 (GRCm39)	nonsense	probably null
R4359:Acot1	UTSW	12	84,061,314 (GRCm39)	missense	probably damaging	1.00
R5345:Acot1	UTSW	12	84,063,942 (GRCm39)	missense	probably damaging	0.99
R6265:Acot1	UTSW	12	84,063,687 (GRCm39)	missense	probably benign	0.23
R6387:Acot1	UTSW	12	84,056,627 (GRCm39)	missense	probably benign	0.00
R8005:Acot1	UTSW	12	84,063,774 (GRCm39)	missense	probably benign	0.04
R8108:Acot1	UTSW	12	84,064,135 (GRCm39)	missense	probably benign	0.00
R8546:Acot1	UTSW	12	84,064,139 (GRCm39)	missense	probably benign	0.00
R8922:Acot1	UTSW	12	84,064,085 (GRCm39)	nonsense	probably null
R9214:Acot1	UTSW	12	84,064,189 (GRCm39)	missense
R9502:Acot1	UTSW	12	84,061,353 (GRCm39)	nonsense	probably null
R9533:Acot1	UTSW	12	84,063,988 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- CAGCTGCTGTGGTCATCAATG -3'
(R):5'- CTCCAAAGGTGATGTTGGCAC -3'

Sequencing Primer
(F):5'- TCATCAATGGCTCCGTGG -3'
(R):5'- TGATGTTGGCACCCACCAG -3'

Posted On

2015-04-17