Mutagenetix > Incidental Mutation

Incidental Mutation 'R6633:Acot7'

543558

Institutional Source

Beutler Lab

Gene Symbol

Acot7

Ensembl Gene

ENSMUSG00000028937

Gene Name

acyl-CoA thioesterase 7

Synonyms

2410041A17Rik, Bach, AU014716

MMRRC Submission

044755-MU

Accession Numbers

Essential gene?

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

Stock #

R6633 (G1)

Quality Score

65.0073

Status

Validated

Chromosome

Chromosomal Location

152262591-152356312 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 152262716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 30 (P30L)

Ref Sequence

ENSEMBL: ENSMUSP00000074827 (fasta)

Gene Model

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

AlphaFold

Q91V12

Predicted Effect

probably benign
Transcript: ENSMUST00000075363
AA Change: P30L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074827
Gene: ENSMUSG00000028937
AA Change: P30L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (50/50)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	C	A	11: 84,402,308 (GRCm39)		probably null	Het
Adam24	T	G	8: 41,133,526 (GRCm39)	D331E	probably benign	Het
Adamdec1	T	C	14: 68,810,601 (GRCm39)	D185G	probably benign	Het
Adgrg7	T	C	16: 56,550,649 (GRCm39)	I688V	probably benign	Het
Adgrv1	A	T	13: 81,716,762 (GRCm39)	F779I	probably damaging	Het
Agtr1a	A	G	13: 30,565,450 (GRCm39)	I172V	probably benign	Het
Anapc4	C	T	5: 53,023,288 (GRCm39)	H710Y	possibly damaging	Het
Arf1	T	C	11: 59,103,370 (GRCm39)	N179S	probably benign	Het
Arhgef40	C	T	14: 52,234,888 (GRCm39)	P1064S	probably damaging	Het
Btnl1	A	G	17: 34,604,305 (GRCm39)	N362S	possibly damaging	Het
Ccdc80	T	C	16: 44,915,271 (GRCm39)	F9S	possibly damaging	Het
Ccdc96	G	A	5: 36,642,533 (GRCm39)	E180K	probably benign	Het
Cdh2	A	T	18: 16,773,605 (GRCm39)	N241K	probably benign	Het
Cdk8	C	A	5: 146,235,656 (GRCm39)	S261*	probably null	Het
Csf2rb2	T	C	15: 78,173,152 (GRCm39)	E236G	probably benign	Het
Dgcr8	A	T	16: 18,102,046 (GRCm39)	S79T	possibly damaging	Het
Dnah5	A	T	15: 28,293,933 (GRCm39)	Y1346F	probably benign	Het
Dock6	A	G	9: 21,731,627 (GRCm39)	V1194A	probably benign	Het
Dock6	A	G	9: 21,732,799 (GRCm39)	S1129P	probably damaging	Het
Ephb2	C	G	4: 136,411,307 (GRCm39)	S451T	probably benign	Het
Esco1	T	A	18: 10,595,738 (GRCm39)		probably benign	Het
Fcer1a	C	G	1: 173,054,293 (GRCm39)		probably null	Het
Gbx2	TCCCCC	TCCCCCC	1: 89,856,442 (GRCm39)		probably null	Het
Gm44511	T	A	6: 128,803,205 (GRCm39)	D2V	probably damaging	Het
H2-Q2	A	G	17: 35,561,363 (GRCm39)	T19A	probably damaging	Het
Herc1	G	T	9: 66,346,534 (GRCm39)	E1967*	probably null	Het
Hic1	G	T	11: 75,060,324 (GRCm39)	H8N	unknown	Het
Irx4	G	T	13: 73,416,545 (GRCm39)	A314S	probably benign	Het
Jarid2	C	A	13: 45,038,353 (GRCm39)	H84N	probably damaging	Het
Klk1b27	A	T	7: 43,705,234 (GRCm39)	I134F	probably damaging	Het
Kprp	T	C	3: 92,732,600 (GRCm39)	Y150C	probably damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lrp10	T	C	14: 54,706,531 (GRCm39)	V489A	probably benign	Het
Mrgpra6	A	G	7: 46,838,493 (GRCm39)	I235T	possibly damaging	Het
Naip1	A	G	13: 100,559,584 (GRCm39)	M1140T	probably benign	Het
Naip1	C	T	13: 100,559,593 (GRCm39)	R1137Q	probably benign	Het
Or4c12	T	C	2: 89,773,710 (GRCm39)	I250V	probably benign	Het
Plcl2	A	G	17: 50,947,168 (GRCm39)	I1016V	probably benign	Het
Plekhb1	A	G	7: 100,294,846 (GRCm39)	Y122H	probably damaging	Het
Polr2a	A	G	11: 69,626,339 (GRCm39)	S1604P	possibly damaging	Het
Ppp6r2	G	A	15: 89,137,458 (GRCm39)		probably null	Het
Rag1	T	A	2: 101,473,055 (GRCm39)	R696W	probably damaging	Het
Rusc2	T	C	4: 43,414,852 (GRCm39)	F53L	probably damaging	Het
Rxylt1	G	A	10: 121,932,958 (GRCm39)	R7W	probably damaging	Het
Tango6	T	C	8: 107,444,637 (GRCm39)	V514A	probably benign	Het
Tex30	A	C	1: 44,127,084 (GRCm39)	H64Q	probably benign	Het
Tmbim7	A	G	5: 3,707,659 (GRCm39)		probably null	Het
Tpcn1	A	G	5: 120,682,529 (GRCm39)	M493T	probably benign	Het
Tpx2	T	G	2: 152,709,274 (GRCm39)	F35V	probably damaging	Het
Vmn1r3	G	A	4: 3,184,971 (GRCm39)	T112I	probably benign	Het
Wnt2b	T	C	3: 104,858,372 (GRCm39)	Y299C	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
R5000:Acot7	UTSW	4	152,270,820 (GRCm39)	missense	probably benign	0.00
R6123:Acot7	UTSW	4	152,284,402 (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'- AACCTTCTGGAAGCGGAGTC -3'
(R):5'- AGTGTCCTCAAAACTGCGGC -3'

Sequencing Primer
(F):5'- TGGAAGCGGAGTCCCACAG -3'
(R):5'- TACAGAATCCTGGGCCTGAGTC -3'

Posted On

2019-03-04