Mutagenetix > Incidental Mutation

Incidental Mutation 'R1605:Acot7'

176385

Institutional Source

Beutler Lab

Gene Symbol

Acot7

Ensembl Gene

ENSMUSG00000028937

Gene Name

acyl-CoA thioesterase 7

Synonyms

2410041A17Rik, Bach, AU014716

MMRRC Submission

039642-MU

Accession Numbers

Essential gene?

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

Stock #

R1605 (G1)

Quality Score

174

Status

Validated

Chromosome

Chromosomal Location

152262591-152356312 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152291285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 84 (I84V)

Ref Sequence

ENSEMBL: ENSMUSP00000129121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030779] [ENSMUST00000075363] [ENSMUST00000105652] [ENSMUST00000167926]

AlphaFold

Q91V12

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030779
AA Change: I81V

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000030779
Gene: ENSMUSG00000028937
AA Change: I81V

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
AA Change: I79V

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000074827
Gene: ENSMUSG00000028937
AA Change: I79V

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

probably benign
Transcript: ENSMUST00000105652
AA Change: I50V

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000101277
Gene: ENSMUSG00000028937
AA Change: I50V

Domain	Start	End	E-Value	Type
Pfam:4HBT	38	121	1.1e-16	PFAM
Pfam:4HBT	212	287	4.4e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127752

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144733

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167926
AA Change: I84V

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000129121
Gene: ENSMUSG00000028937
AA Change: I84V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184331

Meta Mutation Damage Score

0.0878

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (75/76)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	A	G	4: 126,506,104 (GRCm39)	K211E	probably damaging	Het
Ankrd44	A	G	1: 54,867,781 (GRCm39)	V34A	probably benign	Het
Atp4b	A	T	8: 13,443,489 (GRCm39)	M63K	probably damaging	Het
Atr	T	A	9: 95,818,516 (GRCm39)	I2163K	probably damaging	Het
Azgp1	A	T	5: 137,983,426 (GRCm39)	R34*	probably null	Het
Ccdc152	T	G	15: 3,327,603 (GRCm39)	K58T	probably damaging	Het
Ccdc88b	T	A	19: 6,827,837 (GRCm39)	Q912L	probably benign	Het
Cdc42ep5	T	A	7: 4,154,395 (GRCm39)	H131L	probably benign	Het
Chd7	G	A	4: 8,844,675 (GRCm39)	E1595K	probably damaging	Het
Col11a1	G	A	3: 113,925,290 (GRCm39)	G41D	probably damaging	Het
Cyp2b23	C	T	7: 26,385,843 (GRCm39)	V5I	probably benign	Het
D430041D05Rik	A	G	2: 104,085,915 (GRCm39)	V22A	possibly damaging	Het
Ddi1	T	C	9: 6,266,012 (GRCm39)	Y119C	probably benign	Het
Dysf	T	C	6: 84,083,923 (GRCm39)	L785P	probably damaging	Het
Eqtn	T	A	4: 94,816,587 (GRCm39)	T69S	possibly damaging	Het
F11	T	A	8: 45,694,617 (GRCm39)	K581N	probably damaging	Het
Gli2	G	A	1: 118,782,290 (GRCm39)	P172S	probably damaging	Het
Gm7579	G	T	7: 141,765,603 (GRCm39)	C3F	unknown	Het
Grin2a	A	G	16: 9,481,194 (GRCm39)	V501A	possibly damaging	Het
Grk4	G	A	5: 34,831,901 (GRCm39)	D57N	probably damaging	Het
Gsdma	A	T	11: 98,557,319 (GRCm39)	D86V	probably damaging	Het
Gsx1	A	G	5: 147,126,738 (GRCm39)	E187G	probably damaging	Het
Hdac1-ps	A	G	17: 78,799,537 (GRCm39)	D176G	probably damaging	Het
Inpp5k	T	A	11: 75,524,307 (GRCm39)	F75L	probably benign	Het
Itpr1	T	C	6: 108,326,620 (GRCm39)	V114A	possibly damaging	Het
Izumo3	A	T	4: 92,032,977 (GRCm39)	C130S	probably damaging	Het
Mei4	G	A	9: 81,809,639 (GRCm39)	E241K	possibly damaging	Het
Mocs2	T	C	13: 114,961,120 (GRCm39)	V39A	probably benign	Het
Mroh2b	G	A	15: 4,974,572 (GRCm39)	R1184H	probably benign	Het
Msh3	T	C	13: 92,436,783 (GRCm39)	Q509R	probably null	Het
Myh8	T	C	11: 67,192,497 (GRCm39)	W1459R	probably damaging	Het
Mypop	T	A	7: 18,734,918 (GRCm39)		probably benign	Het
Ndc1	C	A	4: 107,225,293 (GRCm39)	T3K	probably damaging	Het
Nf1	A	C	11: 79,331,749 (GRCm39)	M695L	probably benign	Het
Nup50l	A	G	6: 96,141,793 (GRCm39)	M417T	probably benign	Het
Nutm2	C	A	13: 50,623,955 (GRCm39)	D217E	possibly damaging	Het
Or52a20	T	C	7: 103,365,858 (GRCm39)	I19T	probably damaging	Het
Or5b122	A	G	19: 13,562,994 (GRCm39)	T109A	probably benign	Het
Pde6c	C	A	19: 38,129,940 (GRCm39)	D283E	probably damaging	Het
Phldb2	A	G	16: 45,591,142 (GRCm39)		probably benign	Het
Pigt	G	C	2: 164,349,419 (GRCm39)	R574P	probably damaging	Het
Pkd1	T	C	17: 24,796,500 (GRCm39)	I2354T	possibly damaging	Het
Prdm15	T	C	16: 97,640,506 (GRCm39)	E27G	probably damaging	Het
Ptpn14	A	G	1: 189,597,709 (GRCm39)	I1140V	probably benign	Het
Rdx	T	C	9: 51,974,891 (GRCm39)	V9A	probably damaging	Het
Rfx7	T	C	9: 72,519,071 (GRCm39)	S258P	probably damaging	Het
Rnf17	G	T	14: 56,730,822 (GRCm39)	G1209C	probably damaging	Het
S1pr4	C	T	10: 81,335,225 (GRCm39)		probably null	Het
Scml2	G	T	X: 160,014,442 (GRCm39)	E566D	possibly damaging	Het
Serpinb1b	T	A	13: 33,277,646 (GRCm39)	V293E	possibly damaging	Het
Serpinb9b	T	C	13: 33,222,112 (GRCm39)		probably null	Het
Sez6l	A	C	5: 112,622,915 (GRCm39)	I212S	probably damaging	Het
Son	T	C	16: 91,454,552 (GRCm39)	S1100P	probably damaging	Het
Spag9	G	A	11: 93,939,365 (GRCm39)	R98H	probably damaging	Het
Spata31e2	A	T	1: 26,723,511 (GRCm39)	H556Q	possibly damaging	Het
St3gal5	T	C	6: 72,119,272 (GRCm39)	L128P	probably benign	Het
Stra6	A	T	9: 58,059,166 (GRCm39)	M510L	probably benign	Het
Stxbp5l	A	G	16: 37,028,473 (GRCm39)	V530A	probably benign	Het
Tatdn1	A	G	15: 58,793,039 (GRCm39)		probably benign	Het
Tbc1d8	A	G	1: 39,430,206 (GRCm39)	S466P	probably benign	Het
Tmem199	A	T	11: 78,399,152 (GRCm39)	M175K	possibly damaging	Het
Trmt12	A	G	15: 58,744,764 (GRCm39)	E54G	probably benign	Het
Usp37	G	T	1: 74,532,163 (GRCm39)	Q77K	possibly damaging	Het
Vezf1	A	G	11: 87,967,125 (GRCm39)	I301V	possibly damaging	Het
Vmn1r34	T	G	6: 66,613,932 (GRCm39)	M269L	probably benign	Het
Wdr93	C	A	7: 79,421,257 (GRCm39)		probably null	Het
Wnk2	T	C	13: 49,214,370 (GRCm39)	D644G	probably damaging	Het
Zc3h13	C	T	14: 75,574,923 (GRCm39)	R1591*	probably null	Het
Zfp131	G	A	13: 120,230,316 (GRCm39)	L371F	probably damaging	Het
Zfp180	T	A	7: 23,804,049 (GRCm39)	V156D	probably benign	Het
Zfp646	G	T	7: 127,479,359 (GRCm39)		probably null	Het
Zscan12	C	A	13: 21,550,813 (GRCm39)	T144K	probably benign	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
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
R5000:Acot7	UTSW	4	152,270,820 (GRCm39)	missense	probably benign	0.00
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'- TGCCTGTCGCTGTCCCCTATAAAG -3'
(R):5'- TGACTGTCAGACCTCCAGAAGACAC -3'

Sequencing Primer
(F):5'- CTGTCCCCTATAAAGAGGACTGTG -3'
(R):5'- GACCTCCAGAAGACACAGTGG -3'

Posted On

2014-04-24