Mutagenetix > Incidental Mutation

Incidental Mutation 'R5000:Acot7'

389804

Institutional Source

Beutler Lab

Gene Symbol

Acot7

Ensembl Gene

ENSMUSG00000028937

Gene Name

acyl-CoA thioesterase 7

Synonyms

2410041A17Rik, Bach, AU014716

MMRRC Submission

042594-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R5000 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152262591-152356312 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 152270820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 55 (G55R)

Ref Sequence

ENSEMBL: ENSMUSP00000129121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030779] [ENSMUST00000075363] [ENSMUST00000167926]

AlphaFold

Q91V12

Predicted Effect

probably benign
Transcript: ENSMUST00000030779
AA Change: G52R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000030779
Gene: ENSMUSG00000028937
AA Change: G52R

Domain	Start	End	E-Value	Type
Pfam:4HBT	69	152	1e-16	PFAM
Pfam:4HBT	243	318	4.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000075363

SMART Domains

Protein: ENSMUSP00000074827
Gene: ENSMUSG00000028937

Domain	Start	End	E-Value	Type
low complexity region	1	13	N/A	INTRINSIC
low complexity region	30	36	N/A	INTRINSIC
Pfam:4HBT	67	150	1.2e-16	PFAM
Pfam:4HBT	241	316	5e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124548

Predicted Effect

probably benign
Transcript: ENSMUST00000167926
AA Change: G55R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000129121
Gene: ENSMUSG00000028937
AA Change: G55R

Domain	Start	End	E-Value	Type
Pfam:4HBT	72	155	2.3e-17	PFAM
Pfam:4HBT	246	320	1.2e-19	PFAM

Meta Mutation Damage Score

0.1829

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

98% (97/99)

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 coenzyme family. The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA and other long-chain fatty acids. Decreased expression of this gene may be associated with mesial temporal lobe epilepsy. Alternatively spliced transcript variants encoding distinct isoforms with different subcellular locations have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a floxed allele activated in neurons exhibit abnormal glucose and lipid homeostasis, altered metabolism, increaased adiposity, decreased lean mass, progressive neurodegeneration, and neurological defects in aged mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	A	7: 27,255,946 (GRCm39)	F11Y	probably benign	Het
Abca5	A	G	11: 110,201,050 (GRCm39)	L450P	probably damaging	Het
Abi1	T	A	2: 22,840,211 (GRCm39)	R357W	probably damaging	Het
Aicda	G	A	6: 122,538,826 (GRCm39)	V14I	probably damaging	Het
Anxa4	G	T	6: 86,742,766 (GRCm39)		probably benign	Het
Apobr	T	A	7: 126,185,729 (GRCm39)	D413E	possibly damaging	Het
Ash1l	T	C	3: 88,965,941 (GRCm39)	Y2448H	probably damaging	Het
Atf7ip	A	G	6: 136,559,426 (GRCm39)	E749G	probably damaging	Het
Atp8b3	A	T	10: 80,357,676 (GRCm39)	N1114K	possibly damaging	Het
Bdnf	C	A	2: 109,553,993 (GRCm39)	N122K	probably benign	Het
Boc	A	T	16: 44,310,517 (GRCm39)	I801N	probably damaging	Het
Brap	A	T	5: 121,800,089 (GRCm39)	K37*	probably null	Het
Ccar1	C	T	10: 62,586,784 (GRCm39)	E885K	unknown	Het
Ccdc103	A	G	11: 102,774,932 (GRCm39)	N177S	probably benign	Het
Ccdc116	G	A	16: 16,959,657 (GRCm39)	P344L	possibly damaging	Het
Cdca5	T	C	19: 6,135,463 (GRCm39)	S28P	possibly damaging	Het
Ceacam20	T	C	7: 19,699,453 (GRCm39)	I14T	probably damaging	Het
Chrnb1	A	T	11: 69,677,858 (GRCm39)	V298E	probably damaging	Het
Cnksr3	G	A	10: 7,076,746 (GRCm39)	Q149*	probably null	Het
Csnk1a1	T	C	18: 61,711,840 (GRCm39)	F97L	probably damaging	Het
Dag1	A	T	9: 108,085,216 (GRCm39)	S642T	probably benign	Het
Dedd2	A	G	7: 24,903,068 (GRCm39)	V297A	possibly damaging	Het
Dhcr7	C	T	7: 143,395,060 (GRCm39)	T189M	possibly damaging	Het
Dlgap1	T	C	17: 71,073,053 (GRCm39)	S691P	probably damaging	Het
Dmgdh	A	C	13: 93,825,046 (GRCm39)	H123P	probably damaging	Het
Dnah6	C	T	6: 73,121,798 (GRCm39)	V1395I	probably benign	Het
Dnah7a	T	C	1: 53,606,201 (GRCm39)	Y1273C	probably damaging	Het
Dnah7b	T	A	1: 46,138,663 (GRCm39)	L235*	probably null	Het
Elac2	T	C	11: 64,876,379 (GRCm39)	F3L	probably benign	Het
Elovl7	A	T	13: 108,410,915 (GRCm39)	K163N	probably benign	Het
Epg5	T	C	18: 77,997,376 (GRCm39)	V413A	probably benign	Het
Espl1	T	A	15: 102,206,986 (GRCm39)	L150Q	probably damaging	Het
F2rl3	T	A	8: 73,489,307 (GRCm39)	L178Q	probably damaging	Het
Fam120a	T	C	13: 49,051,143 (GRCm39)	E754G	probably damaging	Het
Fam53b	T	C	7: 132,317,730 (GRCm39)	N304S	probably benign	Het
Fbxo41	T	C	6: 85,460,901 (GRCm39)	E269G	probably damaging	Het
Fcrla	T	C	1: 170,749,959 (GRCm39)	T4A	probably benign	Het
Frmpd1	A	T	4: 45,261,931 (GRCm39)		probably null	Het
Gm9376	A	G	14: 118,504,702 (GRCm39)	M45V	probably benign	Het
Gpr68	G	A	12: 100,844,596 (GRCm39)	A316V	probably benign	Het
Hmgcl	G	A	4: 135,689,511 (GRCm39)	C323Y	probably benign	Het
Hnrnpu	T	C	1: 178,156,941 (GRCm39)		probably benign	Het
Ier2	T	A	8: 85,389,353 (GRCm39)	I10F	probably damaging	Het
Ip6k1	C	T	9: 107,922,798 (GRCm39)	Q234*	probably null	Het
Llgl2	T	C	11: 115,735,728 (GRCm39)	V108A	probably benign	Het
Lrfn3	T	C	7: 30,059,805 (GRCm39)	N140S	possibly damaging	Het
Lrig1	T	A	6: 94,588,430 (GRCm39)	H573L	probably damaging	Het
Lrrk2	T	A	15: 91,634,081 (GRCm39)	W1393R	probably damaging	Het
Mrc1	T	A	2: 14,249,000 (GRCm39)	Y179N	probably damaging	Het
Mtfr1	C	T	3: 19,265,743 (GRCm39)	L93F	probably damaging	Het
Muc19	T	C	15: 91,757,429 (GRCm39)		noncoding transcript	Het
Ndst2	C	T	14: 20,774,975 (GRCm39)		probably null	Het
Nmd3	A	T	3: 69,624,735 (GRCm39)		probably benign	Het
Nsd3	A	G	8: 26,172,593 (GRCm39)	Y784C	probably damaging	Het
Or4a27	A	T	2: 88,559,910 (GRCm39)	I11N	probably damaging	Het
Or7a36	G	A	10: 78,820,514 (GRCm39)	V297I	probably benign	Het
Papln	A	G	12: 83,821,663 (GRCm39)	Y297C	probably damaging	Het
Pdhx	T	C	2: 102,871,385 (GRCm39)		probably null	Het
Pdpk1	T	C	17: 24,330,019 (GRCm39)	T6A	possibly damaging	Het
Prcp	T	C	7: 92,568,368 (GRCm39)	W267R	probably damaging	Het
Prg2	T	C	2: 84,812,367 (GRCm39)	S26P	probably benign	Het
Psg26	A	T	7: 18,214,057 (GRCm39)	Y202N	possibly damaging	Het
Psrc1	T	C	3: 108,287,839 (GRCm39)		probably benign	Het
Rap1gds1	A	T	3: 138,662,011 (GRCm39)	M366K	probably damaging	Het
Robo4	G	T	9: 37,319,664 (GRCm39)	R527L	probably benign	Het
Sel1l3	G	A	5: 53,357,776 (GRCm39)	T72M	probably damaging	Het
Selenoo	G	A	15: 88,978,387 (GRCm39)	R270H	probably damaging	Het
Sema3d	A	G	5: 12,498,005 (GRCm39)	T4A	probably benign	Het
Shroom1	A	T	11: 53,357,944 (GRCm39)		probably benign	Het
Slc25a19	T	C	11: 115,507,497 (GRCm39)		probably null	Het
Snx29	A	C	16: 11,221,371 (GRCm39)	I266L	probably damaging	Het
Spo11	T	C	2: 172,831,193 (GRCm39)	S255P	probably damaging	Het
Spock3	T	C	8: 63,698,158 (GRCm39)	V167A	possibly damaging	Het
Tmc7	A	G	7: 118,158,077 (GRCm39)		probably null	Het
Tmtc4	A	G	14: 123,170,743 (GRCm39)	V509A	possibly damaging	Het
Trim24	A	G	6: 37,935,547 (GRCm39)	D880G	probably benign	Het
Ube2j2	G	A	4: 156,030,841 (GRCm39)	M1I	probably null	Het
Ubr4	T	A	4: 139,163,480 (GRCm39)	C2627S	probably damaging	Het
Unc5d	A	T	8: 29,205,775 (GRCm39)	M512K	possibly damaging	Het
Usp18	A	G	6: 121,229,479 (GRCm39)	R33G	possibly damaging	Het
Utp23	T	A	15: 51,745,569 (GRCm39)	V23D	probably damaging	Het
Wdr17	T	A	8: 55,118,161 (GRCm39)	M512L	possibly damaging	Het
Wdr64	T	A	1: 175,553,941 (GRCm39)		probably null	Het
Zbtb6	T	C	2: 37,319,251 (GRCm39)	T226A	probably benign	Het
Zc3hc1	T	A	6: 30,375,987 (GRCm39)	H191L	possibly damaging	Het
Zdhhc4	C	A	5: 143,310,688 (GRCm39)	C48F	probably damaging	Het
Zfp335	T	A	2: 164,736,588 (GRCm39)	T1016S	probably benign	Het
Zfp583	A	G	7: 6,328,473 (GRCm39)	Y39H	probably damaging	Het

Other mutations in Acot7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Acot7	APN	4	152,345,353 (GRCm39)	missense	probably benign	0.39
IGL01758:Acot7	APN	4	152,302,250 (GRCm39)	missense	probably damaging	0.96
IGL01991:Acot7	APN	4	152,307,536 (GRCm39)	missense	possibly damaging	0.84
R1329:Acot7	UTSW	4	152,314,241 (GRCm39)	nonsense	probably null
R1605:Acot7	UTSW	4	152,291,285 (GRCm39)	missense	possibly damaging	0.46
R1625:Acot7	UTSW	4	152,270,748 (GRCm39)	missense	probably benign	0.01
R1739:Acot7	UTSW	4	152,345,369 (GRCm39)	missense	probably damaging	1.00
R4169:Acot7	UTSW	4	152,302,250 (GRCm39)	missense	probably damaging	0.96
R4473:Acot7	UTSW	4	152,291,313 (GRCm39)	missense	probably damaging	1.00
R4857:Acot7	UTSW	4	152,322,211 (GRCm39)	missense	possibly damaging	0.76
R4884:Acot7	UTSW	4	152,270,664 (GRCm39)	intron	probably benign
R6123:Acot7	UTSW	4	152,284,402 (GRCm39)	missense	probably benign
R6633:Acot7	UTSW	4	152,262,716 (GRCm39)	missense	probably benign
R6938:Acot7	UTSW	4	152,302,351 (GRCm39)	critical splice donor site	probably null
R7025:Acot7	UTSW	4	152,262,646 (GRCm39)	missense	unknown
R7813:Acot7	UTSW	4	152,307,575 (GRCm39)	missense	probably damaging	1.00
R8035:Acot7	UTSW	4	152,337,611 (GRCm39)	missense	possibly damaging	0.75
R8793:Acot7	UTSW	4	152,284,380 (GRCm39)	missense	probably benign
R8803:Acot7	UTSW	4	152,302,272 (GRCm39)	missense	probably damaging	1.00
R9288:Acot7	UTSW	4	152,291,263 (GRCm39)	missense	probably damaging	1.00
R9644:Acot7	UTSW	4	152,270,752 (GRCm39)	nonsense	probably null
R9734:Acot7	UTSW	4	152,345,474 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATATTGGCCGGAAGCTGTC -3'
(R):5'- TCCATCTAAGACAATGCAGCTC -3'

Sequencing Primer
(F):5'- TCTGGTAGCTAAGCCTGGC -3'
(R):5'- TCTAAGACAATGCAGCTCACCCG -3'

Posted On

2016-06-06