Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01024:Acot12'

53948

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acot12

Ensembl Gene

ENSMUSG00000021620

Gene Name

acyl-CoA thioesterase 12

Synonyms

Cach, 4930449F15Rik, 1300004O04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL01024

Quality Score

Status

Chromosome

Chromosomal Location

91889635-91934271 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 91929330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 386 (Q386*)

Ref Sequence

ENSEMBL: ENSMUSP00000022120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022120]

AlphaFold

Q9DBK0

Predicted Effect

probably null
Transcript: ENSMUST00000022120
AA Change: Q386*

SMART Domains

Protein: ENSMUSP00000022120
Gene: ENSMUSG00000021620
AA Change: Q386*

Domain	Start	End	E-Value	Type
Pfam:4HBT	25	97	4.2e-12	PFAM
Pfam:4HBT	198	275	2.5e-14	PFAM
low complexity region	317	328	N/A	INTRINSIC
Pfam:START	350	515	1.5e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159214

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	C	19: 3,767,040 (GRCm39)	V209A	probably benign	Het
Abca6	T	A	11: 110,087,968 (GRCm39)	Y1053F	probably benign	Het
Adamts16	A	G	13: 70,943,603 (GRCm39)	V336A	probably benign	Het
Ankrd49	A	G	9: 14,694,099 (GRCm39)	F23L	probably damaging	Het
Aspm	A	T	1: 139,405,862 (GRCm39)	H1583L	possibly damaging	Het
Atp6v0a1	A	G	11: 100,939,265 (GRCm39)	I677V	probably benign	Het
Brinp1	A	T	4: 68,680,731 (GRCm39)	W600R	probably damaging	Het
Ccdc185	T	C	1: 182,574,988 (GRCm39)	E567G	possibly damaging	Het
Clip2	T	C	5: 134,539,066 (GRCm39)	D445G	probably damaging	Het
Elp5	T	C	11: 69,859,248 (GRCm39)		probably benign	Het
Gm9376	A	G	14: 118,504,570 (GRCm39)	M1V	probably null	Het
Gtf2a1l	A	G	17: 88,978,719 (GRCm39)	K40R	probably damaging	Het
Hdc	A	G	2: 126,445,766 (GRCm39)	V246A	probably benign	Het
Hectd2	T	A	19: 36,583,793 (GRCm39)	F479L	probably damaging	Het
Hipk1	G	T	3: 103,667,952 (GRCm39)	N538K	probably benign	Het
Kif27	T	A	13: 58,436,015 (GRCm39)	E1259D	possibly damaging	Het
Klhdc2	T	A	12: 69,352,610 (GRCm39)	N256K	probably benign	Het
Krt71	C	T	15: 101,645,109 (GRCm39)	A401T	probably damaging	Het
Mapk3	A	T	7: 126,363,946 (GRCm39)	K312*	probably null	Het
Med12l	G	T	3: 58,980,762 (GRCm39)	S365I	probably damaging	Het
Mgam	A	G	6: 40,619,944 (GRCm39)	K11R	probably benign	Het
Nox3	A	T	17: 3,733,290 (GRCm39)	I187N	probably damaging	Het
Nudcd1	T	A	15: 44,284,222 (GRCm39)	M55L	probably benign	Het
Or1a1b	A	T	11: 74,097,481 (GRCm39)	L187Q	probably damaging	Het
Or4f59	A	T	2: 111,872,716 (GRCm39)	F220L	probably benign	Het
Or8b57	A	G	9: 40,004,029 (GRCm39)	S78P	probably damaging	Het
Pard6g	T	C	18: 80,123,037 (GRCm39)		probably benign	Het
Pbrm1	G	A	14: 30,774,217 (GRCm39)	R461H	probably damaging	Het
Ppm1f	C	A	16: 16,741,633 (GRCm39)	T369K	probably benign	Het
Ppp1r16b	C	T	2: 158,582,736 (GRCm39)		probably benign	Het
Pramel29	A	T	4: 143,935,045 (GRCm39)	I232K	possibly damaging	Het
Prom2	T	C	2: 127,383,059 (GRCm39)	N61S	probably benign	Het
Psmc2	T	C	5: 22,006,196 (GRCm39)		probably benign	Het
Psme2	A	G	14: 55,825,893 (GRCm39)		probably benign	Het
Ptprc	T	C	1: 138,008,650 (GRCm39)	H655R	probably damaging	Het
Pxdn	A	C	12: 30,037,098 (GRCm39)	N292T	probably damaging	Het
Rapgef2	T	C	3: 78,977,445 (GRCm39)	I1301V	probably benign	Het
Rnase11	T	C	14: 51,287,321 (GRCm39)	I78V	probably benign	Het
Rpl41	A	G	10: 128,384,246 (GRCm39)		probably benign	Het
Sgf29	G	A	7: 126,264,103 (GRCm39)	R56Q	possibly damaging	Het
Sis	A	G	3: 72,819,209 (GRCm39)	L1449S	probably damaging	Het
Slc34a2	T	A	5: 53,224,972 (GRCm39)	V371D	possibly damaging	Het
Son	C	A	16: 91,452,798 (GRCm39)	T515K	probably damaging	Het
Tbx15	A	T	3: 99,223,562 (GRCm39)	D250V	probably damaging	Het
Thoc2l	T	G	5: 104,669,612 (GRCm39)	V1378G	probably benign	Het
Tmem171	T	A	13: 98,823,026 (GRCm39)		probably null	Het
Ugt2b36	C	T	5: 87,228,728 (GRCm39)		probably null	Het
Vill	G	A	9: 118,899,418 (GRCm39)		probably null	Het
Vmn2r22	A	G	6: 123,615,012 (GRCm39)	F193L	probably damaging	Het
Vmn2r95	C	T	17: 18,672,590 (GRCm39)		probably benign	Het
Vstm2a	T	A	11: 16,231,874 (GRCm39)	V223D	possibly damaging	Het

Other mutations in Acot12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01114:Acot12	APN	13	91,905,711 (GRCm39)	splice site	probably benign
IGL01376:Acot12	APN	13	91,932,790 (GRCm39)	missense	probably damaging	0.98
IGL01474:Acot12	APN	13	91,920,902 (GRCm39)	missense	possibly damaging	0.53
IGL02206:Acot12	APN	13	91,908,106 (GRCm39)	missense	probably damaging	1.00
IGL02999:Acot12	APN	13	91,908,100 (GRCm39)	missense	probably damaging	0.97
IGL03237:Acot12	APN	13	91,929,388 (GRCm39)	missense	probably benign	0.26
R0071:Acot12	UTSW	13	91,929,293 (GRCm39)	splice site	probably benign
R0092:Acot12	UTSW	13	91,889,684 (GRCm39)	missense	probably damaging	1.00
R0141:Acot12	UTSW	13	91,919,947 (GRCm39)	missense	probably benign	0.02
R0331:Acot12	UTSW	13	91,908,183 (GRCm39)	critical splice donor site	probably null
R0525:Acot12	UTSW	13	91,908,186 (GRCm39)	splice site	probably benign
R0544:Acot12	UTSW	13	91,932,775 (GRCm39)	missense	probably benign	0.02
R1509:Acot12	UTSW	13	91,919,994 (GRCm39)	critical splice donor site	probably null
R1616:Acot12	UTSW	13	91,920,886 (GRCm39)	missense	probably benign	0.02
R1773:Acot12	UTSW	13	91,905,676 (GRCm39)	missense	probably benign	0.27
R1897:Acot12	UTSW	13	91,932,516 (GRCm39)	missense	probably benign
R2047:Acot12	UTSW	13	91,931,122 (GRCm39)	missense	probably damaging	1.00
R2102:Acot12	UTSW	13	91,908,096 (GRCm39)	missense	probably benign	0.00
R3730:Acot12	UTSW	13	91,908,145 (GRCm39)	missense	possibly damaging	0.61
R3735:Acot12	UTSW	13	91,932,465 (GRCm39)	missense	probably benign
R3736:Acot12	UTSW	13	91,932,465 (GRCm39)	missense	probably benign
R3912:Acot12	UTSW	13	91,918,208 (GRCm39)	missense	probably benign	0.01
R4156:Acot12	UTSW	13	91,932,882 (GRCm39)	missense	probably benign	0.00
R4418:Acot12	UTSW	13	91,932,524 (GRCm39)	missense	possibly damaging	0.46
R4879:Acot12	UTSW	13	91,911,083 (GRCm39)	missense	probably benign	0.17
R5456:Acot12	UTSW	13	91,889,759 (GRCm39)	missense	probably damaging	1.00
R5498:Acot12	UTSW	13	91,929,352 (GRCm39)	missense	probably damaging	1.00
R5601:Acot12	UTSW	13	91,931,029 (GRCm39)	missense	probably benign	0.10
R5998:Acot12	UTSW	13	91,905,653 (GRCm39)	missense	possibly damaging	0.49
R6781:Acot12	UTSW	13	91,932,531 (GRCm39)	splice site	probably null
R7208:Acot12	UTSW	13	91,929,361 (GRCm39)	missense	probably benign	0.06
R7330:Acot12	UTSW	13	91,889,651 (GRCm39)	start codon destroyed	probably null	0.89
R7560:Acot12	UTSW	13	91,932,510 (GRCm39)	missense	probably benign
R7561:Acot12	UTSW	13	91,918,243 (GRCm39)	missense	probably damaging	0.96
R7869:Acot12	UTSW	13	91,919,844 (GRCm39)	missense	probably benign	0.12
R9377:Acot12	UTSW	13	91,918,221 (GRCm39)	missense	probably benign	0.00
R9411:Acot12	UTSW	13	91,919,919 (GRCm39)	missense	probably damaging	1.00
R9542:Acot12	UTSW	13	91,931,110 (GRCm39)	missense	probably damaging	1.00
X0050:Acot12	UTSW	13	91,919,956 (GRCm39)	missense	probably benign	0.00

Posted On

2013-06-28