Mutagenetix > Incidental Mutation

Incidental Mutation 'R0071:Acot12'

43878

Institutional Source

Beutler Lab

Gene Symbol

Acot12

Ensembl Gene

ENSMUSG00000021620

Gene Name

acyl-CoA thioesterase 12

Synonyms

Cach, 1300004O04Rik, 4930449F15Rik

MMRRC Submission

038362-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R0071 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

91741512-91786148 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 91781174 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022120 (fasta)

Gene Model

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

AlphaFold

Q9DBK0

Predicted Effect

probably benign
Transcript: ENSMUST00000022120

SMART Domains

Protein: ENSMUSP00000022120
Gene: ENSMUSG00000021620

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.2%

Validation Efficiency

99% (78/79)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900011O08Rik	A	G	16: 14,088,954 (GRCm38)	D11G	probably damaging	Het
4930474N05Rik	A	G	14: 36,090,789 (GRCm38)		probably benign	Het
Acrbp	T	C	6: 125,050,952 (GRCm38)		probably benign	Het
AI481877	A	G	4: 59,059,643 (GRCm38)	Y1006H	possibly damaging	Het
Amotl1	G	A	9: 14,548,773 (GRCm38)	A890V	probably benign	Het
Aox3	T	A	1: 58,171,891 (GRCm38)	C931*	probably null	Het
Apob	T	A	12: 8,002,111 (GRCm38)	V1184E	probably damaging	Het
Arhgap44	A	T	11: 65,011,895 (GRCm38)	L582Q	possibly damaging	Het
Bbx	C	T	16: 50,280,392 (GRCm38)	E47K	probably benign	Het
Bccip	A	G	7: 133,714,231 (GRCm38)	D72G	probably damaging	Het
Bckdha	A	T	7: 25,630,443 (GRCm38)		probably null	Het
Cald1	C	T	6: 34,758,134 (GRCm38)		probably benign	Het
Cdk11b	T	C	4: 155,649,423 (GRCm38)		probably benign	Het
Cebpe	G	T	14: 54,710,604 (GRCm38)	R261S	probably damaging	Het
Cep95	C	T	11: 106,790,728 (GRCm38)		probably benign	Het
Chil1	T	C	1: 134,185,279 (GRCm38)	Y150H	probably benign	Het
Chrnd	T	C	1: 87,192,837 (GRCm38)		probably benign	Het
Clec4g	T	A	8: 3,717,489 (GRCm38)		probably benign	Het
Cog2	T	C	8: 124,548,668 (GRCm38)		probably benign	Het
Coro7	A	T	16: 4,670,527 (GRCm38)	L93Q	probably damaging	Het
Csmd3	T	C	15: 47,596,821 (GRCm38)	T3525A	probably benign	Het
Ctsc	G	A	7: 88,308,149 (GRCm38)		probably benign	Het
Dnajc16	T	C	4: 141,768,007 (GRCm38)	T467A	probably benign	Het
Dnmt1	G	A	9: 20,908,620 (GRCm38)	T1409I	probably damaging	Het
Fam227b	T	A	2: 126,124,074 (GRCm38)	N144Y	probably benign	Het
Fam83h	A	G	15: 76,002,528 (GRCm38)	S987P	probably benign	Het
Fhod1	A	T	8: 105,337,225 (GRCm38)		probably null	Het
Folr1	A	G	7: 101,863,923 (GRCm38)		probably null	Het
Glis3	C	T	19: 28,263,855 (GRCm38)		probably benign	Het
Gm10069	T	C	6: 128,472,725 (GRCm38)		noncoding transcript	Het
Golgb1	G	A	16: 36,915,503 (GRCm38)	R1704Q	probably benign	Het
Gpr158	C	A	2: 21,810,668 (GRCm38)	T624K	probably benign	Het
Helz2	T	C	2: 181,236,407 (GRCm38)	Y866C	probably damaging	Het
Itpkb	T	A	1: 180,332,765 (GRCm38)	V152E	probably damaging	Het
Kcnma1	C	T	14: 23,526,767 (GRCm38)	R236H	probably damaging	Het
Klhl32	A	G	4: 24,743,907 (GRCm38)	V88A	probably damaging	Het
Lct	C	T	1: 128,292,018 (GRCm38)	W1631*	probably null	Het
Lipa	T	A	19: 34,495,082 (GRCm38)	K313M	probably damaging	Het
Ly75	T	C	2: 60,321,819 (GRCm38)	K1130R	probably benign	Het
Mamdc2	C	A	19: 23,303,630 (GRCm38)	E685*	probably null	Het
Mdm1	A	G	10: 118,146,796 (GRCm38)	E112G	probably damaging	Het
Metrnl	A	T	11: 121,716,000 (GRCm38)	M212L	probably benign	Het
Mettl2	A	G	11: 105,131,642 (GRCm38)		probably benign	Het
Mxd3	A	T	13: 55,329,636 (GRCm38)	L11Q	probably damaging	Het
Myo7a	A	T	7: 98,056,830 (GRCm38)	Y1836N	probably damaging	Het
Nsun7	A	G	5: 66,264,045 (GRCm38)	Y118C	probably benign	Het
Obscn	G	A	11: 59,064,201 (GRCm38)	T3962M	possibly damaging	Het
Olfr195	C	A	16: 59,149,215 (GRCm38)	R122S	probably benign	Het
Olfr53	A	T	7: 140,652,257 (GRCm38)	I93F	probably benign	Het
Olfr716	A	G	7: 107,147,712 (GRCm38)	Y132C	probably damaging	Het
Osbpl11	T	C	16: 33,214,338 (GRCm38)		probably benign	Het
Pcdhb22	A	T	18: 37,520,078 (GRCm38)	D276V	probably damaging	Het
Pik3cb	A	T	9: 99,044,865 (GRCm38)	D886E	probably benign	Het
Pkhd1	T	A	1: 20,201,344 (GRCm38)	Y2995F	probably benign	Het
Raver2	C	T	4: 101,120,445 (GRCm38)		probably benign	Het
Rhbdf1	A	G	11: 32,210,498 (GRCm38)	L684P	probably damaging	Het
Rufy2	C	A	10: 62,989,167 (GRCm38)	L75M	possibly damaging	Het
Sec22c	A	G	9: 121,692,913 (GRCm38)	F44L	probably damaging	Het
Sephs1	A	G	2: 4,899,560 (GRCm38)	T250A	probably benign	Het
Serpina1a	T	C	12: 103,855,743 (GRCm38)	K310R	probably benign	Het
Sobp	A	G	10: 43,157,997 (GRCm38)	L111P	probably damaging	Het
Sparcl1	G	T	5: 104,085,841 (GRCm38)	Y547*	probably null	Het
Spata31d1b	G	A	13: 59,715,349 (GRCm38)	A104T	probably benign	Het
Spert	A	G	14: 75,584,181 (GRCm38)	S44P	probably benign	Het
Spsb3	A	G	17: 24,887,904 (GRCm38)	D184G	probably damaging	Het
Sptan1	A	T	2: 30,003,342 (GRCm38)	K1148*	probably null	Het
Tdrd12	A	G	7: 35,529,246 (GRCm38)	V17A	possibly damaging	Het
Tlr9	A	G	9: 106,223,578 (GRCm38)	T23A	probably benign	Het
Tra2b	A	T	16: 22,254,401 (GRCm38)		probably benign	Het
Tspan15	A	G	10: 62,203,070 (GRCm38)		probably benign	Het
Ttc41	A	G	10: 86,736,846 (GRCm38)	N694S	probably benign	Het
Ttn	T	G	2: 76,767,469 (GRCm38)	D19700A	probably damaging	Het
Ube3b	G	A	5: 114,419,497 (GRCm38)	G1014D	probably damaging	Het
Unc5d	A	G	8: 28,719,826 (GRCm38)	V422A	possibly damaging	Het
Vmn2r80	C	T	10: 79,171,732 (GRCm38)	T514I	possibly damaging	Het
Zfp595	T	C	13: 67,316,853 (GRCm38)	K452E	possibly damaging	Het
Zfp607a	A	G	7: 27,878,269 (GRCm38)	K255E	probably damaging	Het
Zxdc	T	G	6: 90,370,416 (GRCm38)	V253G	probably damaging	Het

Other mutations in Acot12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Acot12	APN	13	91,781,211 (GRCm38)	nonsense	probably null
IGL01114:Acot12	APN	13	91,757,592 (GRCm38)	splice site	probably benign
IGL01376:Acot12	APN	13	91,784,671 (GRCm38)	missense	probably damaging	0.98
IGL01474:Acot12	APN	13	91,772,783 (GRCm38)	missense	possibly damaging	0.53
IGL02206:Acot12	APN	13	91,759,987 (GRCm38)	missense	probably damaging	1.00
IGL02999:Acot12	APN	13	91,759,981 (GRCm38)	missense	probably damaging	0.97
IGL03237:Acot12	APN	13	91,781,269 (GRCm38)	missense	probably benign	0.26
R0092:Acot12	UTSW	13	91,741,565 (GRCm38)	missense	probably damaging	1.00
R0141:Acot12	UTSW	13	91,771,828 (GRCm38)	missense	probably benign	0.02
R0331:Acot12	UTSW	13	91,760,064 (GRCm38)	critical splice donor site	probably null
R0525:Acot12	UTSW	13	91,760,067 (GRCm38)	splice site	probably benign
R0544:Acot12	UTSW	13	91,784,656 (GRCm38)	missense	probably benign	0.02
R1509:Acot12	UTSW	13	91,771,875 (GRCm38)	critical splice donor site	probably null
R1616:Acot12	UTSW	13	91,772,767 (GRCm38)	missense	probably benign	0.02
R1773:Acot12	UTSW	13	91,757,557 (GRCm38)	missense	probably benign	0.27
R1897:Acot12	UTSW	13	91,784,397 (GRCm38)	missense	probably benign
R2047:Acot12	UTSW	13	91,783,003 (GRCm38)	missense	probably damaging	1.00
R2102:Acot12	UTSW	13	91,759,977 (GRCm38)	missense	probably benign	0.00
R3730:Acot12	UTSW	13	91,760,026 (GRCm38)	missense	possibly damaging	0.61
R3735:Acot12	UTSW	13	91,784,346 (GRCm38)	missense	probably benign
R3736:Acot12	UTSW	13	91,784,346 (GRCm38)	missense	probably benign
R3912:Acot12	UTSW	13	91,770,089 (GRCm38)	missense	probably benign	0.01
R4156:Acot12	UTSW	13	91,784,763 (GRCm38)	missense	probably benign	0.00
R4418:Acot12	UTSW	13	91,784,405 (GRCm38)	missense	possibly damaging	0.46
R4879:Acot12	UTSW	13	91,762,964 (GRCm38)	missense	probably benign	0.17
R5456:Acot12	UTSW	13	91,741,640 (GRCm38)	missense	probably damaging	1.00
R5498:Acot12	UTSW	13	91,781,233 (GRCm38)	missense	probably damaging	1.00
R5601:Acot12	UTSW	13	91,782,910 (GRCm38)	missense	probably benign	0.10
R5998:Acot12	UTSW	13	91,757,534 (GRCm38)	missense	possibly damaging	0.49
R6781:Acot12	UTSW	13	91,784,412 (GRCm38)	splice site	probably null
R7208:Acot12	UTSW	13	91,781,242 (GRCm38)	missense	probably benign	0.06
R7330:Acot12	UTSW	13	91,741,532 (GRCm38)	start codon destroyed	probably null	0.89
R7560:Acot12	UTSW	13	91,784,391 (GRCm38)	missense	probably benign
R7561:Acot12	UTSW	13	91,770,124 (GRCm38)	missense	probably damaging	0.96
R7869:Acot12	UTSW	13	91,771,725 (GRCm38)	missense	probably benign	0.12
R9377:Acot12	UTSW	13	91,770,102 (GRCm38)	missense	probably benign	0.00
R9411:Acot12	UTSW	13	91,771,800 (GRCm38)	missense	probably damaging	1.00
R9542:Acot12	UTSW	13	91,782,991 (GRCm38)	missense	probably damaging	1.00
X0050:Acot12	UTSW	13	91,771,837 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCTTACTTGGTACAGGCAAGGATG -3'
(R):5'- ACAGATGTGGACCACCAATGCTAAC -3'

Sequencing Primer
(F):5'- GCAAGGATGTATGACTGCCC -3'
(R):5'- TCTCATGAAGCAGTTTAGGCAG -3'

Posted On

2013-05-29