Mutagenetix > Incidental Mutation

Incidental Mutation 'R1897:Acot12'

212073

Institutional Source

Beutler Lab

Gene Symbol

Acot12

Ensembl Gene

ENSMUSG00000021620

Gene Name

acyl-CoA thioesterase 12

Synonyms

Cach, 1300004O04Rik, 4930449F15Rik

MMRRC Submission

039917-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R1897 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91741512-91786148 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91784397 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 504 (N504S)

Ref Sequence

ENSEMBL: ENSMUSP00000022120 (fasta)

Gene Model

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

AlphaFold

Q9DBK0

Predicted Effect

probably benign
Transcript: ENSMUST00000022120
AA Change: N504S

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

SMART Domains

Protein: ENSMUSP00000022120
Gene: ENSMUSG00000021620
AA Change: N504S

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

0.0702

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.8%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	A	G	1: 155,558,818	S61G	probably damaging	Het
Adcy3	C	T	12: 4,173,450		probably benign	Het
Adcyap1r1	A	T	6: 55,479,194	H168L	probably damaging	Het
Adgrd1	A	G	5: 129,129,001	E213G	probably benign	Het
Aldh1l2	G	T	10: 83,502,525	T510K	probably damaging	Het
Apol7e	A	T	15: 77,717,894	M231L	probably benign	Het
Asb1	C	A	1: 91,546,925		probably null	Het
Atf7ip2	C	T	16: 10,211,084	P160L	probably damaging	Het
Atp8a1	A	G	5: 67,738,429	L554P	probably damaging	Het
Ccdc18	A	T	5: 108,196,042	M884L	probably benign	Het
Ccdc93	A	G	1: 121,491,212	I499V	probably benign	Het
Ccl20	A	G	1: 83,117,895	D60G	probably damaging	Het
Cdhr3	T	C	12: 33,045,193	T626A	possibly damaging	Het
Cep250	A	G	2: 155,976,095	E789G	probably damaging	Het
Cmpk2	T	C	12: 26,474,047	L281P	probably damaging	Het
Col6a6	A	T	9: 105,785,744	M198K	possibly damaging	Het
Crocc	G	A	4: 141,018,736	R1691C	probably damaging	Het
Csf1	C	T	3: 107,748,279	V90M	probably damaging	Het
Cul2	T	G	18: 3,414,164	M86R	probably benign	Het
Dbndd2	T	C	2: 164,488,664	F79S	probably damaging	Het
Dkk1	G	T	19: 30,549,278	N34K	possibly damaging	Het
Dnah6	T	A	6: 73,181,762	L619F	probably benign	Het
Eif2b5	T	C	16: 20,507,037	V588A	probably damaging	Het
Elf3	A	T	1: 135,257,137	Y104N	probably damaging	Het
Fahd2a	T	C	2: 127,436,610	D272G	probably damaging	Het
Fbxw15	A	T	9: 109,558,203	C188*	probably null	Het
Fbxw8	T	C	5: 118,128,876	Y174C	probably benign	Het
Gnl1	C	A	17: 35,988,692	P585Q	possibly damaging	Het
Greb1l	T	C	18: 10,498,992	S292P	probably benign	Het
Gsk3b	G	A	16: 38,217,084		probably null	Het
Hcls1	C	T	16: 36,962,643	P452L	probably damaging	Het
Hdlbp	A	T	1: 93,422,285		probably benign	Het
Hecw1	A	G	13: 14,377,940	S25P	probably damaging	Het
Hells	T	C	19: 38,940,484	V100A	probably benign	Het
Isl1	C	T	13: 116,303,330	E161K	probably benign	Het
Klra9	G	T	6: 130,185,592	N160K	possibly damaging	Het
Lama4	T	C	10: 39,060,186	V619A	probably damaging	Het
Mpc1	G	A	17: 8,296,878	R134Q	possibly damaging	Het
Myo5c	A	T	9: 75,292,241	N1377I	probably benign	Het
Myrf	T	C	19: 10,218,232	I607V	probably benign	Het
Olfr123	T	G	17: 37,796,184	S247A	probably benign	Het
Olfr968	A	T	9: 39,772,065	I245K	probably damaging	Het
Pik3c2b	A	G	1: 133,066,916	D206G	possibly damaging	Het
Pipox	A	G	11: 77,882,742	Y228H	probably damaging	Het
Pitrm1	T	A	13: 6,560,095	V401D	possibly damaging	Het
Plod1	C	T	4: 147,926,200	E265K	probably damaging	Het
Ptpn21	A	T	12: 98,680,405		probably null	Het
Qars	C	T	9: 108,514,083	Q7*	probably null	Het
Rpap2	T	A	5: 107,633,095	V479E	possibly damaging	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Rusc2	A	G	4: 43,421,749	Y723C	probably damaging	Het
Ryr2	A	T	13: 11,750,932	M1306K	probably benign	Het
Sesn3	A	C	9: 14,308,645	Y110S	probably damaging	Het
Sgce	C	T	6: 4,691,511	V319I	probably benign	Het
Slc15a5	G	T	6: 138,079,764	F51L	possibly damaging	Het
Slit2	T	A	5: 48,238,423	C723S	probably damaging	Het
Sncaip	A	G	18: 52,894,790		probably null	Het
Snx2	T	A	18: 53,197,878	D138E	probably damaging	Het
Spef2	A	T	15: 9,729,654	L126*	probably null	Het
Stam	T	C	2: 14,129,026	S195P	probably damaging	Het
Strn	T	C	17: 78,682,842	I82V	probably benign	Het
Synj2	T	A	17: 6,022,137	C202*	probably null	Het
Tecpr2	A	G	12: 110,933,247	D683G	probably benign	Het
Tfec	A	G	6: 16,835,308	V157A	probably damaging	Het
Tff1	T	G	17: 31,164,938	Q28P	probably benign	Het
Vmn2r86	A	G	10: 130,452,445	Y396H	probably damaging	Het
Vmn2r87	A	T	10: 130,471,960	M803K	probably damaging	Het
Vmn2r90	A	G	17: 17,733,304	K577E	probably damaging	Het
Vrk1	T	C	12: 106,036,540		probably benign	Het
Wdr20	A	G	12: 110,793,723	T348A	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
R0525:Acot12	UTSW	13	91760067	splice site	probably benign
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
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'- TGCCAGTTACTGTAGAACTGTCC -3'
(R):5'- GTACGTTACCTGCATCAAAGAG -3'

Sequencing Primer
(F):5'- TGTAGAACTGTCCTGTCTAACAACC -3'
(R):5'- CTTGGAGAACTTTCAAGTAAGAGAC -3'

Posted On

2014-06-30