Mutagenetix > Incidental Mutation

Incidental Mutation 'R3912:Acot12'

309479

Institutional Source

Beutler Lab

Gene Symbol

Acot12

Ensembl Gene

ENSMUSG00000021620

Gene Name

acyl-CoA thioesterase 12

Synonyms

Cach, 1300004O04Rik, 4930449F15Rik

MMRRC Submission

040910-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R3912 (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 91770089 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 167 (D167G)

Ref Sequence

ENSEMBL: ENSMUSP00000022120 (fasta)

Gene Model

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

AlphaFold

Q9DBK0

Predicted Effect

probably benign
Transcript: ENSMUST00000022120
AA Change: D167G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000022120
Gene: ENSMUSG00000021620
AA Change: D167G

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

Meta Mutation Damage Score

0.0696

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	G	T	13: 63,156,706	E402*	probably null	Het
9030624J02Rik	A	G	7: 118,746,390	T49A	possibly damaging	Het
Acot1	A	G	12: 84,017,032	S305G	probably damaging	Het
Adgra1	T	C	7: 139,845,714		probably null	Het
Adh7	T	A	3: 138,221,780	V29E	probably damaging	Het
Atp2c2	A	G	8: 119,721,276	K103E	probably damaging	Het
Camkk1	A	G	11: 73,033,816	D285G	probably benign	Het
Ccdc158	G	C	5: 92,648,935	T514S	possibly damaging	Het
Cdhr5	T	A	7: 141,273,857	D210V	probably damaging	Het
Cndp1	C	T	18: 84,631,999	D190N	probably benign	Het
Eepd1	C	T	9: 25,483,304	T288M	probably damaging	Het
Erbin	G	T	13: 103,862,287	T197K	probably benign	Het
Erbin	G	A	13: 103,886,338		probably benign	Het
Fnip2	A	T	3: 79,479,505	D971E	possibly damaging	Het
Gab2	A	G	7: 97,299,073	Y290C	probably damaging	Het
Gbp3	C	T	3: 142,566,338		probably benign	Het
Gm14326	T	C	2: 177,945,865	K446R	probably damaging	Het
Gm5724	A	G	6: 141,727,636	F392S	probably damaging	Het
Herc2	T	C	7: 56,098,437	Y518H	probably damaging	Het
Id2	T	A	12: 25,095,872	K47*	probably null	Het
Ilf2	A	G	3: 90,487,060	N295S	probably benign	Het
Ilf3	C	T	9: 21,398,126	A526V	possibly damaging	Het
Ints10	T	A	8: 68,813,620	S478T	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lrrc7	G	A	3: 158,291,952	L158F	probably damaging	Het
Mroh9	C	T	1: 163,066,069	C179Y	probably damaging	Het
Mrps18b	C	T	17: 35,910,939	V165I	probably benign	Het
Myrip	A	G	9: 120,432,616	S432G	probably benign	Het
Nutm2	C	T	13: 50,472,940	A377V	possibly damaging	Het
Olfr700	A	T	7: 106,805,865	V199D	probably damaging	Het
Pate4	C	A	9: 35,611,844	M1I	probably null	Het
Pax7	C	A	4: 139,780,898	W272L	probably benign	Het
Ppp1r12b	C	T	1: 134,887,318	E320K	probably damaging	Het
Prg4	T	C	1: 150,451,868	Y278C	probably damaging	Het
Pvr	T	C	7: 19,909,292	N339D	probably benign	Het
Rev3l	A	G	10: 39,820,556	I521M	probably damaging	Het
Ryr2	A	G	13: 11,772,427	I1020T	probably damaging	Het
Scn4a	T	A	11: 106,320,716	I1492F	probably damaging	Het
Sec16a	C	T	2: 26,414,387	G2304D	probably damaging	Het
Shisa7	T	A	7: 4,830,240	R341*	probably null	Het
Slc19a3	T	A	1: 83,022,703	M198L	probably benign	Het
Slc26a8	T	A	17: 28,644,779	N669Y	possibly damaging	Het
Snap91	T	C	9: 86,792,557	T534A	possibly damaging	Het
Susd4	A	T	1: 182,887,466	Y284F	probably damaging	Het
Tas1r1	A	T	4: 152,031,924	Y418N	probably damaging	Het
Tdrd12	A	G	7: 35,487,713	I584T	probably damaging	Het
Tmtc3	A	C	10: 100,449,026	N582K	probably damaging	Het
Tnfrsf11b	G	A	15: 54,256,182		probably benign	Het
Trim30a	A	G	7: 104,411,141	V476A	probably damaging	Het
Vmn1r39	C	T	6: 66,805,141	M27I	probably benign	Het
Vmn2r59	T	C	7: 42,046,320	T223A	probably benign	Het
Vwa5a	T	C	9: 38,734,743	I469T	probably damaging	Het
Wnt3a	A	C	11: 59,250,002	D229E	possibly damaging	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
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
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'- AGACCTGTCTAATAAAGGGCCC -3'
(R):5'- AGTGCTGAGAACCTTGCAG -3'

Sequencing Primer
(F):5'- GACCTGTCTAATAAAGGGCCCTTCTG -3'
(R):5'- CAGAAATGGTGGCGACTGTCTC -3'

Posted On

2015-04-17