Mutagenetix > Incidental Mutation

Incidental Mutation 'R7330:Acot12'

569205

Institutional Source

Beutler Lab

Gene Symbol

Acot12

Ensembl Gene

ENSMUSG00000021620

Gene Name

acyl-CoA thioesterase 12

Synonyms

Cach, 4930449F15Rik, 1300004O04Rik

MMRRC Submission

045423-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R7330 (G1)

Quality Score

217.009

Status

Not validated

Chromosome

Chromosomal Location

91889635-91934271 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 91889651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000022120 (fasta)

Gene Model

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

AlphaFold

Q9DBK0

Predicted Effect

probably null
Transcript: ENSMUST00000022120
AA Change: M1K

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022120
Gene: ENSMUSG00000021620
AA Change: M1K

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	T	C	9: 118,977,450 (GRCm39)	T411A	possibly damaging	Het
Ace	A	G	11: 105,876,887 (GRCm39)	H1123R	probably damaging	Het
Actr2	A	T	11: 20,022,544 (GRCm39)	M309K	probably damaging	Het
Ahsa2	G	T	11: 23,440,558 (GRCm39)	T279K	probably benign	Het
Ak8	A	G	2: 28,702,947 (GRCm39)	Y437C	possibly damaging	Het
Atp1a3	T	A	7: 24,700,577 (GRCm39)	K5*	probably null	Het
Bbs2	T	A	8: 94,814,033 (GRCm39)	E195V	possibly damaging	Het
C4b	T	A	17: 34,949,446 (GRCm39)	Y1505F	probably damaging	Het
Camkk1	C	G	11: 72,917,873 (GRCm39)	N147K	probably damaging	Het
Cdh18	G	A	15: 23,227,036 (GRCm39)	V166I	possibly damaging	Het
Cep135	T	A	5: 76,754,592 (GRCm39)	C356*	probably null	Het
Cilp	A	T	9: 65,187,527 (GRCm39)	R1207S	probably benign	Het
Clcnkb	A	G	4: 141,137,923 (GRCm39)	I291T	possibly damaging	Het
Clrn3	G	T	7: 135,130,198 (GRCm39)	S12Y	probably damaging	Het
Clstn2	G	T	9: 97,343,422 (GRCm39)	A675D	probably benign	Het
Cpvl	A	G	6: 53,951,744 (GRCm39)	I13T	probably benign	Het
Cyp2c68	A	G	19: 39,677,634 (GRCm39)	I452T	probably damaging	Het
Dhh	A	G	15: 98,792,291 (GRCm39)	V239A	probably damaging	Het
Edar	T	G	10: 58,446,376 (GRCm39)	H183P	probably damaging	Het
Epha2	T	A	4: 141,035,764 (GRCm39)	S67T	probably benign	Het
Gapdh	A	G	6: 125,139,900 (GRCm39)	L168P	probably benign	Het
Grm4	C	T	17: 27,653,798 (GRCm39)	W717*	probably null	Het
Gtf3c1	T	C	7: 125,303,055 (GRCm39)	I127V	probably benign	Het
Igkv4-72	C	T	6: 69,204,087 (GRCm39)	A35T	probably damaging	Het
Il6st	T	A	13: 112,630,185 (GRCm39)	S344T	probably benign	Het
Ip6k1	A	G	9: 107,922,452 (GRCm39)	D168G	possibly damaging	Het
Itpr1	G	A	6: 108,415,292 (GRCm39)	R1742H	probably benign	Het
Lat2	T	A	5: 134,635,641 (GRCm39)	T58S	probably damaging	Het
Limk2	T	C	11: 3,296,311 (GRCm39)	K566E	probably benign	Het
Lonp2	C	A	8: 87,358,022 (GRCm39)	T81K	probably damaging	Het
Mdn1	C	A	4: 32,723,685 (GRCm39)	N2540K	probably benign	Het
Myt1l	T	A	12: 29,901,553 (GRCm39)	D769E	unknown	Het
Neb	C	T	2: 52,079,715 (GRCm39)	V5780M	possibly damaging	Het
Or1j18	T	A	2: 36,625,057 (GRCm39)	C241*	probably null	Het
Or5d35	C	A	2: 87,855,265 (GRCm39)	H66Q	possibly damaging	Het
Or6c8b	C	T	10: 128,882,333 (GRCm39)	V200M	probably damaging	Het
Or7g25	T	A	9: 19,160,567 (GRCm39)	I43F	probably benign	Het
Pcdhga12	T	C	18: 37,901,439 (GRCm39)	V757A	probably damaging	Het
Prpf31	A	G	7: 3,642,854 (GRCm39)	T448A	probably damaging	Het
Rbm6	A	T	9: 107,668,244 (GRCm39)	M694K	possibly damaging	Het
Ropn1l	T	C	15: 31,451,349 (GRCm39)	Y45C		Het
Selenbp1	T	A	3: 94,847,021 (GRCm39)	D182E	probably benign	Het
Son	TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC	TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC	16: 91,453,486 (GRCm39)		probably benign	Het
Spef1	G	A	2: 131,014,653 (GRCm39)	R90W	probably damaging	Het
Sspo	A	G	6: 48,452,396 (GRCm39)	S2787G	probably benign	Het
Stox2	A	G	8: 47,645,271 (GRCm39)	S730P	possibly damaging	Het
Syne1	T	C	10: 5,078,434 (GRCm39)	N997S	probably benign	Het
Tipin	A	G	9: 64,195,508 (GRCm39)	D38G	probably benign	Het
Tshz1	T	A	18: 84,032,956 (GRCm39)	K484M	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttll3	A	AAGTAC	6: 113,376,125 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,747,355 (GRCm39)	V4565I	probably benign	Het
Ubr7	A	G	12: 102,741,971 (GRCm39)	I402V	probably damaging	Het
Ucn3	A	T	13: 3,991,216 (GRCm39)	N145K	possibly damaging	Het
Utp18	A	T	11: 93,772,899 (GRCm39)		probably null	Het
Utp20	GAA	GA	10: 88,623,424 (GRCm39)		probably null	Het
Vmn1r189	A	G	13: 22,286,711 (GRCm39)	I42T	possibly damaging	Het
Vmn2r91	T	C	17: 18,326,429 (GRCm39)	M238T	probably damaging	Het
Washc5	G	T	15: 59,205,516 (GRCm39)	A1125D	probably benign	Het
Wsb2	A	G	5: 117,508,827 (GRCm39)	E87G	probably damaging	Het
Zfat	G	A	15: 68,084,600 (GRCm39)	P97L	probably benign	Het
Zfp87	T	G	13: 74,523,153 (GRCm39)	T22P	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
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

Predicted Primers

PCR Primer
(F):5'- CCCATGCGTTTTGGAGCTAG -3'
(R):5'- TTCAGGATCCCCGGACAGTATC -3'

Sequencing Primer
(F):5'- AGAGAGGCTGGCGTACTCTACTC -3'
(R):5'- GGACAGTATCACCTCCCTGG -3'

Posted On

2019-09-13