Mutagenetix > Incidental Mutations

Incidental Mutation 'R7864:Acot2'

607732

Institutional Source

Beutler Lab

Gene Symbol

Acot2

Ensembl Gene

ENSMUSG00000021226

Gene Name

acyl-CoA thioesterase 2

Synonyms

MTE-I, Mte1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7864 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83987861-83993873 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83988022 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 41 (R41W)

Ref Sequence

ENSEMBL: ENSMUSP00000021649 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021649] [ENSMUST00000164935]

Predicted Effect

probably benign
Transcript: ENSMUST00000021649
AA Change: R41W

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000021649
Gene: ENSMUSG00000021226
AA Change: R41W

Domain	Start	End	E-Value	Type
Pfam:Bile_Hydr_Trans	57	182	3e-45	PFAM
low complexity region	189	202	N/A	INTRINSIC
Pfam:BAAT_C	244	451	7.6e-86	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164935

SMART Domains

Protein: ENSMUSP00000129832
Gene: ENSMUSG00000090843

Domain	Start	End	E-Value	Type
low complexity region	153	166	N/A	INTRINSIC
low complexity region	261	272	N/A	INTRINSIC
low complexity region	289	303	N/A	INTRINSIC
low complexity region	533	548	N/A	INTRINSIC
internal_repeat_1	577	711	2.78e-6	PROSPERO
Pfam:HEAT_2	776	890	1.8e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (48/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the acyl-CoA thioesterase protein family, and is one of four acyl-CoA hydrolase genes located in a cluster on chromosome 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	T	A	8: 24,922,276	H88L	probably benign	Het
Ank1	A	G	8: 23,087,960	T238A	probably damaging	Het
Arid1b	T	C	17: 5,342,255	L1967P	probably damaging	Het
Bbx	G	T	16: 50,262,434	H216Q	probably damaging	Het
C030005K15Rik	G	A	10: 97,725,752	T39M	probably damaging	Het
C1s2	A	G	6: 124,625,287	V655A	probably benign	Het
Carmil2	A	G	8: 105,688,274	Y184C	probably damaging	Het
Ces1f	G	A	8: 93,274,141	A125V	possibly damaging	Het
Chaf1a	C	T	17: 56,047,339	T203I	unknown	Het
Cntn5	A	G	9: 9,984,177	S144P	probably damaging	Het
Cpa5	A	T	6: 30,631,395	Y436F	probably damaging	Het
Dbf4	A	T	5: 8,410,010	H150Q	possibly damaging	Het
Dlg5	G	A	14: 24,245,212	P80L	probably damaging	Het
Dock8	A	T	19: 25,163,500	D1360V	possibly damaging	Het
Ecm1	A	T	3: 95,734,376	I515N	probably benign	Het
Fancc	A	T	13: 63,400,259	C75*	probably null	Het
Foxa1	A	T	12: 57,542,747	V229D	probably damaging	Het
Gga1	T	C	15: 78,888,244	M248T	probably damaging	Het
Gm1527	A	G	3: 28,926,470	Q573R	probably benign	Het
Gm5615	A	T	9: 36,534,451	F68Y	probably benign	Het
Hivep1	A	C	13: 42,158,814	H1510P	probably benign	Het
Htr1f	A	C	16: 64,926,794	I45S	probably damaging	Het
Itsn1	T	C	16: 91,801,566	V129A	possibly damaging	Het
Klrg2	G	T	6: 38,628,089	Q347K	possibly damaging	Het
Lama2	G	A	10: 27,056,615	T1996I	probably benign	Het
Man1a	C	A	10: 54,030,747	L219F	possibly damaging	Het
Mcub	A	G	3: 129,918,623	I201T	probably damaging	Het
Olfr1494	A	G	19: 13,749,346	D80G	probably benign	Het
Otogl	A	G	10: 107,869,567	L633P	probably damaging	Het
Pik3ca	T	A	3: 32,443,613	L429*	probably null	Het
Pkhd1l1	T	C	15: 44,526,053		probably null	Het
Pld4	C	A	12: 112,765,123	Q237K	probably damaging	Het
Plekhm2	T	C	4: 141,628,046	E897G	probably damaging	Het
Pomt2	A	G	12: 87,122,882	F475L	probably benign	Het
Popdc3	G	A	10: 45,315,182	A130T	probably benign	Het
Prss54	T	C	8: 95,559,669	K259E	probably benign	Het
Psg23	T	G	7: 18,610,510	N340T	possibly damaging	Het
Rab1a	G	T	11: 20,215,673	G23*	probably null	Het
Rgs9	A	T	11: 109,275,620	F108Y	probably damaging	Het
Scn9a	T	A	2: 66,484,560	T1605S	possibly damaging	Het
Sh2d4b	G	A	14: 40,840,251	T319I	probably damaging	Het
Slc28a3	A	T	13: 58,578,403		probably null	Het
Syngap1	A	T	17: 26,970,528	Q1286L		Het
Tmem132d	G	A	5: 127,783,916	T1047I	probably damaging	Het
Togaram2	G	A	17: 71,700,940	R420H	probably damaging	Het
Uimc1	G	A	13: 55,093,267	R3*	probably null	Het
Vmn2r7	C	T	3: 64,691,526	V537I	probably benign	Het
Wwp1	T	A	4: 19,635,328	K584N	probably damaging	Het
Zc3h12d	A	T	10: 7,839,959	Q42L	possibly damaging	Het
Zfp729a	A	T	13: 67,621,450	V220E	probably benign	Het
Zfp91	A	G	19: 12,771,039	V391A	probably damaging	Het

Other mutations in Acot2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0417:Acot2	UTSW	12	83990613	missense	probably benign	0.36
R1101:Acot2	UTSW	12	83992850	missense	probably benign	0.22
R1609:Acot2	UTSW	12	83992856	missense	possibly damaging	0.93
R2267:Acot2	UTSW	12	83990560	missense	probably damaging	1.00
R6166:Acot2	UTSW	12	83992604	missense	probably damaging	1.00
R7384:Acot2	UTSW	12	83992667	missense	probably benign
R7655:Acot2	UTSW	12	83992917	missense	probably benign	0.05
R7656:Acot2	UTSW	12	83992917	missense	probably benign	0.05
R7682:Acot2	UTSW	12	83987924	missense	probably benign	0.01
R7796:Acot2	UTSW	12	83988483	critical splice donor site	probably null
R7845:Acot2	UTSW	12	83992988	nonsense	probably null
X0021:Acot2	UTSW	12	83988085	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGAGGATCTCTTAACTTTCTCTGCGG -3'
(R):5'- AAGAAGTGACGCTCGTGCAC -3'

Sequencing Primer
(F):5'- TAACTTTCTCTGCGGAACCGAGG -3'
(R):5'- ACGTCGCGCTTGATCAG -3'

Posted On

2019-12-20