Mutagenetix > Incidental Mutation

Incidental Mutation 'R9411:Acot12'

711822

Institutional Source

Beutler Lab

Gene Symbol

Acot12

Ensembl Gene

ENSMUSG00000021620

Gene Name

acyl-CoA thioesterase 12

Synonyms

Cach, 4930449F15Rik, 1300004O04Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91889635-91934271 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 91919919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 285 (A285T)

Ref Sequence

ENSEMBL: ENSMUSP00000022120 (fasta)

Gene Model

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

AlphaFold

Q9DBK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000022120
AA Change: A285T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022120
Gene: ENSMUSG00000021620
AA Change: A285T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atg7	T	A	6: 114,690,289 (GRCm39)	M650K	probably benign	Het
B020011L13Rik	G	A	1: 117,729,246 (GRCm39)	G251E	probably benign	Het
Bhlha9	T	C	11: 76,564,018 (GRCm39)	V215A	probably benign	Het
Bmal1	C	A	7: 112,907,837 (GRCm39)	S513*	probably null	Het
C2cd3	T	C	7: 100,065,704 (GRCm39)	V452A		Het
Cd55	G	A	1: 130,368,114 (GRCm39)	H370Y	probably benign	Het
Col6a1	A	G	10: 76,547,487 (GRCm39)	V662A	unknown	Het
Crocc	A	G	4: 140,749,577 (GRCm39)		probably null	Het
Cspg4b	T	A	13: 113,504,767 (GRCm39)	N1965K		Het
Dnah1	C	T	14: 31,018,256 (GRCm39)	V1421M	probably damaging	Het
Eid3	T	G	10: 82,703,652 (GRCm39)	I371S	probably damaging	Het
Flnc	G	A	6: 29,441,484 (GRCm39)	R422Q	probably benign	Het
Fshr	T	C	17: 89,293,148 (GRCm39)	Y510C	probably damaging	Het
Garem1	C	T	18: 21,369,057 (GRCm39)		probably null	Het
Gcn1	C	T	5: 115,733,098 (GRCm39)	T1045M	possibly damaging	Het
Ggt6	T	A	11: 72,326,560 (GRCm39)	L39H	probably damaging	Het
Glrb	T	C	3: 80,767,610 (GRCm39)		probably null	Het
Gpr171	T	A	3: 59,005,311 (GRCm39)	K155*	probably null	Het
Has2	T	A	15: 56,531,306 (GRCm39)	T470S	possibly damaging	Het
Ighv1-34	C	T	12: 114,815,070 (GRCm39)	V31M	probably damaging	Het
Kdm2a	A	T	19: 4,412,835 (GRCm39)	N50K	probably damaging	Het
Mfsd9	C	T	1: 40,829,692 (GRCm39)	V30M	probably damaging	Het
Msra	A	G	14: 64,471,331 (GRCm39)	I126T	probably benign	Het
Nkd2	G	A	13: 73,969,330 (GRCm39)	L379F	probably benign	Het
Nr2f2	A	C	7: 70,007,525 (GRCm39)	V319G		Het
Ntng2	A	T	2: 29,138,048 (GRCm39)	L2Q	probably damaging	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Pcnt	T	C	10: 76,258,896 (GRCm39)	E523G	probably damaging	Het
Pllp	C	T	8: 95,402,868 (GRCm39)	A158T	probably benign	Het
Plxna4	A	G	6: 32,159,682 (GRCm39)	S1431P	probably damaging	Het
Pramel16	A	T	4: 143,676,215 (GRCm39)	F296L	probably damaging	Het
Pramel31	A	G	4: 144,089,997 (GRCm39)	I346V	probably benign	Het
Prpf40a	T	C	2: 53,029,200 (GRCm39)	D951G	unknown	Het
Retn	G	A	8: 3,707,378 (GRCm39)	A113T	probably benign	Het
Rexo1	G	T	10: 80,397,248 (GRCm39)	R3S		Het
Rras	T	A	7: 44,669,979 (GRCm39)	I137N	possibly damaging	Het
Rsf1	A	AAGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Sntb2	A	G	8: 107,737,931 (GRCm39)	D493G	probably damaging	Het
Socs5	T	C	17: 87,442,521 (GRCm39)	I487T	possibly damaging	Het
Spryd3	A	G	15: 102,027,843 (GRCm39)	Y235H	probably damaging	Het
Suco	T	A	1: 161,666,356 (GRCm39)	I515F	probably damaging	Het
Syn2	T	C	6: 115,231,152 (GRCm39)	V269A	possibly damaging	Het
Tmbim6	T	C	15: 99,304,501 (GRCm39)	L186P	probably damaging	Het
Tmem234	T	C	4: 129,495,988 (GRCm39)	Y57H	probably damaging	Het
Tnik	C	A	3: 28,684,754 (GRCm39)	P861T	probably damaging	Het
Tns1	A	G	1: 73,992,662 (GRCm39)	L45P	probably damaging	Het
Veph1	T	A	3: 65,995,238 (GRCm39)	D671V	possibly damaging	Het
Vwc2l	A	T	1: 70,767,980 (GRCm39)	I15F	probably benign	Het
Zdbf2	A	T	1: 63,343,288 (GRCm39)	N556Y	probably damaging	Het
Zfp202	T	A	9: 40,118,878 (GRCm39)	V97D	probably damaging	Het
Zfp800	T	C	6: 28,243,430 (GRCm39)	I512V	possibly damaging	Het
Zkscan2	T	C	7: 123,084,405 (GRCm39)	D573G	probably damaging	Het

Other mutations in Acot12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Acot12	APN	13	91,929,330 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TAGCAGGTGTTTAGCAGGTGAC -3'
(R):5'- CCCACTGGACTTAGGCATAGAAG -3'

Sequencing Primer
(F):5'- CAGGTGACTTGTTGACATCAGAG -3'
(R):5'- GGCATAGAAGAAAGCAAACCTCTTTC -3'

Posted On

2022-05-16