Mutagenetix > Incidental Mutation

Incidental Mutation 'R5061:Acot4'

386633

Institutional Source

Beutler Lab

Gene Symbol

Acot4

Ensembl Gene

ENSMUSG00000052392

Gene Name

acyl-CoA thioesterase 4

Synonyms

PTE-Ib, Pte2b, B430212I04Rik

MMRRC Submission

042651-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5061 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

84084028-84091497 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 84085475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 64 (R64L)

Ref Sequence

ENSEMBL: ENSMUSP00000021652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021652]

AlphaFold

Q8BWN8

Predicted Effect

probably benign
Transcript: ENSMUST00000021652
AA Change: R64L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000021652
Gene: ENSMUSG00000052392
AA Change: R64L

Domain	Start	End	E-Value	Type
Pfam:Bile_Hydr_Trans	16	141	3.4e-43	PFAM
low complexity region	148	159	N/A	INTRINSIC
Pfam:Abhydrolase_5	162	361	1e-6	PFAM
Pfam:FSH1	193	364	3.5e-5	PFAM
Pfam:BAAT_C	203	412	1.1e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180751

Predicted Effect

probably benign
Transcript: ENSMUST00000221229

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221860

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	G	4: 39,450,953 (GRCm39)	H53R	probably benign	Het
Abcg1	A	G	17: 31,311,366 (GRCm39)	K124E	probably damaging	Het
Adam22	G	C	5: 8,230,238 (GRCm39)		probably benign	Het
Add2	G	A	6: 86,064,029 (GRCm39)		probably null	Het
Adgrb3	G	A	1: 25,107,209 (GRCm39)		probably benign	Het
Akap8l	T	G	17: 32,551,868 (GRCm39)	K441T	probably damaging	Het
Aspn	T	A	13: 49,720,080 (GRCm39)	S365R	probably damaging	Het
Atxn1	T	G	13: 45,710,569 (GRCm39)	K788Q	probably damaging	Het
Atxn2l	G	T	7: 126,099,375 (GRCm39)	H135N	probably damaging	Het
Borcs8	T	G	8: 70,593,008 (GRCm39)		probably null	Het
Col5a1	G	A	2: 27,842,390 (GRCm39)	D422N	unknown	Het
Cstad	A	T	2: 30,498,275 (GRCm39)	T37S	unknown	Het
Dgkq	A	T	5: 108,801,989 (GRCm39)	D455E	probably benign	Het
Dop1a	T	C	9: 86,385,161 (GRCm39)		probably benign	Het
Ebf3	T	C	7: 136,915,288 (GRCm39)	I84V	possibly damaging	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Eif3e	A	T	15: 43,115,657 (GRCm39)	W370R	probably damaging	Het
Eya3	T	A	4: 132,431,689 (GRCm39)	D323E	probably damaging	Het
F5	T	C	1: 164,021,749 (GRCm39)	L1408P	probably benign	Het
Fam110d	T	C	4: 133,979,041 (GRCm39)	T146A	probably benign	Het
Gfod1	C	T	13: 43,353,992 (GRCm39)	G328S	probably benign	Het
Gja1	T	A	10: 56,263,752 (GRCm39)	L37Q	probably damaging	Het
Gm10650	T	A	3: 127,833,666 (GRCm39)		noncoding transcript	Het
Gm14226	T	A	2: 154,867,106 (GRCm39)	H354Q	probably benign	Het
Gm15056	T	C	8: 21,390,758 (GRCm39)	T60A	probably benign	Het
Hsd11b1	A	T	1: 192,924,553 (GRCm39)	N6K	probably benign	Het
Ighv1-36	T	C	12: 114,843,742 (GRCm39)	I39M	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kdm7a	G	A	6: 39,128,386 (GRCm39)	P482S	possibly damaging	Het
Lama5	C	A	2: 179,840,579 (GRCm39)	E607*	probably null	Het
Lao1	T	A	4: 118,824,673 (GRCm39)	S252T	probably benign	Het
Lrp12	A	G	15: 39,741,650 (GRCm39)	F355S	probably damaging	Het
Mlycd	T	C	8: 120,137,043 (GRCm39)	F421S	probably damaging	Het
Nectin3	T	C	16: 46,268,812 (GRCm39)	E530G	probably benign	Het
Nifk	T	C	1: 118,260,669 (GRCm39)	*270R	probably null	Het
Ocln	T	C	13: 100,676,106 (GRCm39)	Y129C	probably damaging	Het
Or10ag60	C	T	2: 87,438,176 (GRCm39)	T148I	probably benign	Het
Or4f54	T	A	2: 111,122,832 (GRCm39)	L73H	probably damaging	Het
Or52l1	T	A	7: 104,829,864 (GRCm39)	I219F	possibly damaging	Het
Or5b117	A	T	19: 13,431,349 (GRCm39)	C177*	probably null	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdhb22	G	T	18: 37,652,179 (GRCm39)	G216C	probably damaging	Het
Ppcs	T	C	4: 119,276,412 (GRCm39)	K58E	probably damaging	Het
Prss38	T	C	11: 59,265,196 (GRCm39)	T123A	probably damaging	Het
Rap1gap	T	A	4: 137,447,744 (GRCm39)		probably null	Het
Rbm18	A	G	2: 36,017,217 (GRCm39)	F54L	possibly damaging	Het
Rwdd3	G	A	3: 120,953,432 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,650,422 (GRCm39)	K138E	possibly damaging	Het
Sec24a	T	C	11: 51,604,359 (GRCm39)		probably null	Het
Serpinb10	A	G	1: 107,468,701 (GRCm39)	T115A	probably benign	Het
Slco1a8	T	A	6: 141,954,414 (GRCm39)	M20L	probably benign	Het
Slx4ip	T	G	2: 136,885,930 (GRCm39)	F83L	probably damaging	Het
St3gal1	A	T	15: 66,980,078 (GRCm39)	S274T	probably benign	Het
Stab1	A	C	14: 30,885,056 (GRCm39)	C121W	probably damaging	Het
Stab2	A	G	10: 86,743,249 (GRCm39)	L1149P	probably damaging	Het
Svil	T	G	18: 5,048,954 (GRCm39)	I77R	probably benign	Het
Tbk1	T	G	10: 121,412,241 (GRCm39)	E47A	possibly damaging	Het
Tert	C	T	13: 73,782,397 (GRCm39)	T557I	probably damaging	Het
Tfap2c	A	G	2: 172,393,947 (GRCm39)	D252G	probably damaging	Het
Tll1	C	A	8: 64,506,983 (GRCm39)	C586F	probably damaging	Het
Tln2	T	G	9: 67,261,750 (GRCm39)	N663T	probably benign	Het
Tmem245	T	A	4: 56,946,945 (GRCm39)	Y156F	possibly damaging	Het
Uhrf1	G	T	17: 56,627,542 (GRCm39)		probably null	Het
Unc79	T	A	12: 103,134,700 (GRCm39)	M2417K	possibly damaging	Het
Ush2a	T	C	1: 188,689,471 (GRCm39)	V5011A	probably benign	Het
Virma	T	C	4: 11,494,840 (GRCm39)	V47A	possibly damaging	Het
Vmn2r53	A	C	7: 12,315,741 (GRCm39)	S693A	probably benign	Het
Vps54	G	A	11: 21,269,881 (GRCm39)		probably benign	Het
Znfx1	T	C	2: 166,907,318 (GRCm39)		probably benign	Het

Other mutations in Acot4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02255:Acot4	APN	12	84,088,799 (GRCm39)	missense	probably damaging	0.98
IGL02806:Acot4	APN	12	84,088,737 (GRCm39)	missense	probably damaging	1.00
IGL02967:Acot4	APN	12	84,090,235 (GRCm39)	missense	probably benign
R1827:Acot4	UTSW	12	84,088,712 (GRCm39)	missense	probably damaging	1.00
R2105:Acot4	UTSW	12	84,085,516 (GRCm39)	missense	probably damaging	1.00
R2509:Acot4	UTSW	12	84,088,647 (GRCm39)	missense	probably damaging	1.00
R2904:Acot4	UTSW	12	84,090,377 (GRCm39)	missense	probably benign	0.31
R3859:Acot4	UTSW	12	84,090,218 (GRCm39)	missense	probably benign	0.17
R3904:Acot4	UTSW	12	84,090,101 (GRCm39)	splice site	probably null
R4190:Acot4	UTSW	12	84,089,948 (GRCm39)	intron	probably benign
R4192:Acot4	UTSW	12	84,089,948 (GRCm39)	intron	probably benign
R4541:Acot4	UTSW	12	84,090,022 (GRCm39)	missense	probably benign	0.38
R5682:Acot4	UTSW	12	84,085,576 (GRCm39)	missense	probably damaging	1.00
R5864:Acot4	UTSW	12	84,090,178 (GRCm39)	missense	probably benign	0.04
R6818:Acot4	UTSW	12	84,088,783 (GRCm39)	missense	probably damaging	1.00
R7699:Acot4	UTSW	12	84,090,011 (GRCm39)	missense	probably damaging	1.00
R7700:Acot4	UTSW	12	84,090,011 (GRCm39)	missense	probably damaging	1.00
R8260:Acot4	UTSW	12	84,088,809 (GRCm39)	missense	possibly damaging	0.94
R8974:Acot4	UTSW	12	84,090,515 (GRCm39)	missense	probably benign
R9003:Acot4	UTSW	12	84,089,969 (GRCm39)	missense	possibly damaging	0.84
R9246:Acot4	UTSW	12	84,090,097 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTTGTCTGGGTCCTAGAGAC -3'
(R):5'- ATGAAGTGACGCTCGTGCAC -3'

Sequencing Primer
(F):5'- AGCTCCTAATGGCAGCGAC -3'
(R):5'- ACGCTCGTGCACCGTCC -3'

Posted On

2016-06-06