Mutagenetix > Incidental Mutation

Incidental Mutation 'R3730:Acot12'

270943

Institutional Source

Beutler Lab

Gene Symbol

Acot12

Ensembl Gene

ENSMUSG00000021620

Gene Name

acyl-CoA thioesterase 12

Synonyms

Cach, 1300004O04Rik, 4930449F15Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R3730 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91741512-91786148 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91760026 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 109 (F109Y)

Ref Sequence

ENSEMBL: ENSMUSP00000022120 (fasta)

Gene Model

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

AlphaFold

Q9DBK0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022120
AA Change: F109Y

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000022120
Gene: ENSMUSG00000021620
AA Change: F109Y

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

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.2%
20x: 90.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	G	1: 11,545,226	N141S	probably damaging	Het
Acbd6	T	A	1: 155,558,725	S30T	probably benign	Het
Adamts19	G	A	18: 58,900,910	R319Q	probably damaging	Het
Akap1	T	C	11: 88,845,182	E218G	possibly damaging	Het
Atg4b	T	A	1: 93,768,275	D45E	probably damaging	Het
Atoh1	A	G	6: 64,729,573	E84G	probably benign	Het
Cfap54	A	T	10: 93,011,473	Y951*	probably null	Het
Col4a4	T	A	1: 82,455,751		probably null	Het
Crlf1	A	G	8: 70,499,442	T95A	probably benign	Het
Cyp3a25	G	A	5: 146,003,081	P39S	probably damaging	Het
Dhx9	C	A	1: 153,478,120	A186S	probably benign	Het
Dusp16	A	G	6: 134,718,861	S336P	probably benign	Het
Fcgbp	T	C	7: 28,085,457	V314A	possibly damaging	Het
Focad	T	C	4: 88,408,925	I157T	possibly damaging	Het
Frem3	A	T	8: 80,615,916	T1613S	probably damaging	Het
Fshr	C	T	17: 89,001,715	V222I	probably benign	Het
Galnt13	A	G	2: 54,933,507	N365S	possibly damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Ice1	A	T	13: 70,603,240	S1576T	probably damaging	Het
Ighv1-19	C	A	12: 114,708,877	C40F	probably damaging	Het
Itga8	T	C	2: 12,193,510	T555A	possibly damaging	Het
Kctd5	T	C	17: 24,059,238	D146G	probably benign	Het
Ktn1	A	G	14: 47,701,149	E766G	probably damaging	Het
Ldlr	C	G	9: 21,731,801	A41G	probably benign	Het
Lrp2	G	A	2: 69,464,579	P3465L	probably damaging	Het
Lrp2	A	T	2: 69,534,907		probably null	Het
Mapk11	G	A	15: 89,145,115	A248V	probably benign	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Npr2	T	C	4: 43,640,999	S402P	possibly damaging	Het
Olfm2	T	C	9: 20,672,767	N76D	probably damaging	Het
Olfr1047	A	G	2: 86,228,851	I40T	probably benign	Het
Olfr853	T	A	9: 19,537,151	I260F	probably benign	Het
Pias4	A	T	10: 81,164,054	F55Y	probably damaging	Het
Rgs12	G	A	5: 35,032,251	E658K	probably damaging	Het
Ripor3	C	G	2: 167,992,819	E251Q	probably damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc16a10	G	C	10: 40,056,624	H314D	possibly damaging	Het
Slc35e4	A	G	11: 3,912,577	V204A	possibly damaging	Het
Syt4	T	C	18: 31,444,136	H55R	probably damaging	Het
Tmem2	A	G	19: 21,826,117	Y838C	probably damaging	Het
Trim46	T	A	3: 89,234,949	T721S	probably benign	Het
Usf3	G	T	16: 44,218,575	L1139F	probably benign	Het
Wdr66	A	T	5: 123,326,568	I1280L	possibly damaging	Het
Xrn2	A	T	2: 147,024,809	M100L	probably benign	Het
Zbtb33	C	A	X: 38,192,945	N243K	probably benign	Het
Zfp960	T	A	17: 17,088,371	L449H	probably 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
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'- CACTGAGATAGTAGTGTCACAGAG -3'
(R):5'- AGGTATTGCTCTCACAAGATGTTC -3'

Sequencing Primer
(F):5'- TCAGGATGACTGACGGTT -3'
(R):5'- TGTTCAGTTCTATTATGTCAACACAG -3'

Posted On

2015-03-18