Mutagenetix > Incidental Mutation

Incidental Mutation 'R0525:Acot12'

48869

Institutional Source

Beutler Lab

Gene Symbol

Acot12

Ensembl Gene

ENSMUSG00000021620

Gene Name

acyl-CoA thioesterase 12

Synonyms

Cach, 1300004O04Rik, 4930449F15Rik

MMRRC Submission

038718-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R0525 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91741512-91786148 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 91760067 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: ENSMUST00000161337

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933440M02Rik	T	A	7: 125,331,499		noncoding transcript	Het
A930002H24Rik	A	G	17: 63,863,647	W49R	unknown	Het
Abca13	G	A	11: 9,293,371	V1745M	probably damaging	Het
Abca16	T	G	7: 120,465,810	Y563*	probably null	Het
Alms1	G	A	6: 85,587,760	A39T	unknown	Het
Arid5b	T	C	10: 68,097,846	D742G	possibly damaging	Het
Atp1a4	G	A	1: 172,239,688		probably benign	Het
AU021092	T	A	16: 5,217,861	E145V	possibly damaging	Het
Calr4	A	T	4: 109,242,264		probably benign	Het
Clip4	T	A	17: 71,799,098		probably null	Het
Cnpy4	A	T	5: 138,192,616	H180L	probably benign	Het
Cyp2j9	T	C	4: 96,579,565		probably null	Het
Dgkq	A	G	5: 108,654,615	S406P	probably damaging	Het
Dhx8	G	A	11: 101,763,928	C1014Y	probably damaging	Het
Dnah3	T	C	7: 119,928,754	Y3824C	probably damaging	Het
Donson	A	T	16: 91,686,245	H69Q	probably damaging	Het
Dppa3	A	G	6: 122,629,980	E143G	probably damaging	Het
Drg1	A	G	11: 3,262,545	F96L	probably damaging	Het
Dvl1	A	C	4: 155,855,595	T395P	probably damaging	Het
Eftud2	A	T	11: 102,839,253	V897D	probably damaging	Het
Enpp6	A	G	8: 47,082,443	N341S	possibly damaging	Het
F11	A	G	8: 45,253,049	F100L	probably benign	Het
Fas	T	C	19: 34,319,327	Y189H	probably damaging	Het
Galnt14	G	T	17: 73,545,081	S114R	probably damaging	Het
Gfpt2	A	G	11: 49,829,775	I528V	probably benign	Het
Glt6d1	A	G	2: 25,794,268	V242A	possibly damaging	Het
Grm1	A	T	10: 10,719,209		probably benign	Het
Gskip	G	A	12: 105,698,965	A88T	probably damaging	Het
Gtpbp1	A	G	15: 79,713,447	I348V	probably benign	Het
Hnrnpul1	C	A	7: 25,740,883	R316L	possibly damaging	Het
Il34	T	C	8: 110,748,283	E121G	probably damaging	Het
Lrr1	T	C	12: 69,168,911	L19P	probably damaging	Het
Mat2b	A	G	11: 40,682,669		probably benign	Het
Mettl21e	T	C	1: 44,206,382	K235E	probably damaging	Het
Mir124-2hg	T	A	3: 17,785,529	E126V	possibly damaging	Het
Myh15	A	G	16: 49,132,051	K828R	probably benign	Het
Myom3	A	G	4: 135,764,926	D127G	possibly damaging	Het
Nek5	C	A	8: 22,079,077		probably benign	Het
Nudt7	A	T	8: 114,151,652		probably null	Het
Olfr1056	C	T	2: 86,356,275	V36I	probably benign	Het
Olfr1118	A	T	2: 87,309,349	T187S	probably benign	Het
Olfr1200	G	A	2: 88,767,314	Q334*	probably null	Het
Olfr350	T	C	2: 36,850,190	L48P	probably damaging	Het
Olfr961	T	G	9: 39,647,471	C248W	probably damaging	Het
Phyhd1	A	G	2: 30,281,028	H241R	probably damaging	Het
Pmch	T	C	10: 88,091,400		probably benign	Het
Ror1	A	G	4: 100,441,520	S697G	probably damaging	Het
Rslcan18	A	G	13: 67,112,258	V25A	probably benign	Het
Sema6b	T	C	17: 56,126,630	H426R	probably damaging	Het
Serpina3g	T	C	12: 104,238,339	F9S	probably damaging	Het
Serpinb12	T	A	1: 106,946,702	H52Q	probably benign	Het
Sh3gl1	T	C	17: 56,017,873	K294R	probably benign	Het
Sidt1	G	T	16: 44,259,446	T615K	possibly damaging	Het
Slc16a4	A	C	3: 107,297,939		probably benign	Het
Sned1	T	A	1: 93,271,974		probably null	Het
Sp2	A	T	11: 96,956,098		probably benign	Het
Steap1	T	A	5: 5,742,903	I3F	possibly damaging	Het
Stxbp5l	A	T	16: 37,129,797		probably null	Het
Tbc1d9	G	T	8: 83,268,985	V968F	probably benign	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Triobp	T	C	15: 78,973,898	L1233P	possibly damaging	Het
Trp53bp1	C	A	2: 121,251,868	A317S	probably null	Het
Trpc4ap	A	G	2: 155,640,478	F531L	possibly damaging	Het
Ugt1a10	C	T	1: 88,218,249	P473L	probably damaging	Het
Vmn1r86	T	C	7: 13,102,161	K213E	probably benign	Het
Vps8	G	A	16: 21,540,109		probably null	Het
Wnk1	A	T	6: 119,926,564	S2563T	probably damaging	Het
Yrdc	C	G	4: 124,851,766	R3G	probably damaging	Het
Zfp287	A	T	11: 62,715,244	V279E	probably benign	Het

Other mutations in Acot12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Acot12	APN	13	91781211	nonsense	probably null
IGL01114:Acot12	APN	13	91757592	splice site	probably benign
IGL01376:Acot12	APN	13	91784671	missense	probably damaging	0.98
IGL01474:Acot12	APN	13	91772783	missense	possibly damaging	0.53
IGL02206:Acot12	APN	13	91759987	missense	probably damaging	1.00
IGL02999:Acot12	APN	13	91759981	missense	probably damaging	0.97
IGL03237:Acot12	APN	13	91781269	missense	probably benign	0.26
R0071:Acot12	UTSW	13	91781174	splice site	probably benign
R0092:Acot12	UTSW	13	91741565	missense	probably damaging	1.00
R0141:Acot12	UTSW	13	91771828	missense	probably benign	0.02
R0331:Acot12	UTSW	13	91760064	critical splice donor site	probably null
R0544:Acot12	UTSW	13	91784656	missense	probably benign	0.02
R1509:Acot12	UTSW	13	91771875	critical splice donor site	probably null
R1616:Acot12	UTSW	13	91772767	missense	probably benign	0.02
R1773:Acot12	UTSW	13	91757557	missense	probably benign	0.27
R1897:Acot12	UTSW	13	91784397	missense	probably benign
R2047:Acot12	UTSW	13	91783003	missense	probably damaging	1.00
R2102:Acot12	UTSW	13	91759977	missense	probably benign	0.00
R3730:Acot12	UTSW	13	91760026	missense	possibly damaging	0.61
R3735:Acot12	UTSW	13	91784346	missense	probably benign
R3736:Acot12	UTSW	13	91784346	missense	probably benign
R3912:Acot12	UTSW	13	91770089	missense	probably benign	0.01
R4156:Acot12	UTSW	13	91784763	missense	probably benign	0.00
R4418:Acot12	UTSW	13	91784405	missense	possibly damaging	0.46
R4879:Acot12	UTSW	13	91762964	missense	probably benign	0.17
R5456:Acot12	UTSW	13	91741640	missense	probably damaging	1.00
R5498:Acot12	UTSW	13	91781233	missense	probably damaging	1.00
R5601:Acot12	UTSW	13	91782910	missense	probably benign	0.10
R5998:Acot12	UTSW	13	91757534	missense	possibly damaging	0.49
R6781:Acot12	UTSW	13	91784412	splice site	probably null
R7208:Acot12	UTSW	13	91781242	missense	probably benign	0.06
R7330:Acot12	UTSW	13	91741532	start codon destroyed	probably null	0.89
R7560:Acot12	UTSW	13	91784391	missense	probably benign
R7561:Acot12	UTSW	13	91770124	missense	probably damaging	0.96
R7869:Acot12	UTSW	13	91771725	missense	probably benign	0.12
R9377:Acot12	UTSW	13	91770102	missense	probably benign	0.00
R9411:Acot12	UTSW	13	91771800	missense	probably damaging	1.00
R9542:Acot12	UTSW	13	91782991	missense	probably damaging	1.00
X0050:Acot12	UTSW	13	91771837	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGCTTGGAGACGTGTGTGACG -3'
(R):5'- TGGACCATGACTTTCAACTCCTTGC -3'

Sequencing Primer
(F):5'- ACGCAGTTGAATCTATTGTCAGG -3'
(R):5'- GGTATTGCTCTCACAAGATGTTC -3'

Posted On

2013-06-12