Mutagenetix > Incidental Mutation

Incidental Mutation 'R9003:Acot4'

685106

Institutional Source

Beutler Lab

Gene Symbol

Acot4

Ensembl Gene

ENSMUSG00000052392

Gene Name

acyl-CoA thioesterase 4

Synonyms

PTE-Ib, Pte2b, B430212I04Rik

MMRRC Submission

068833-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9003 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84084028-84091497 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84089969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 222 (K222R)

Ref Sequence

ENSEMBL: ENSMUSP00000021652 (fasta)

Gene Model

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

AlphaFold

Q8BWN8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021652
AA Change: K222R

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021652
Gene: ENSMUSG00000052392
AA Change: K222R

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

probably benign
Transcript: ENSMUST00000221229

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,850,013 (GRCm39)	H917Y	possibly damaging	Het
Akap12	A	G	10: 4,306,744 (GRCm39)	S1290G	probably benign	Het
Arid1a	T	C	4: 133,411,799 (GRCm39)	I1311V	unknown	Het
Asf1b	G	T	8: 84,682,530 (GRCm39)	E25*	probably null	Het
Atp10a	T	A	7: 58,457,203 (GRCm39)	W901R	probably damaging	Het
Aurkc	T	A	7: 6,999,547 (GRCm39)	I18N	probably damaging	Het
Carmil2	A	G	8: 106,423,905 (GRCm39)	T1253A	probably damaging	Het
Ccdc146	T	C	5: 21,508,132 (GRCm39)	T639A	possibly damaging	Het
Cdca4	A	G	12: 112,785,659 (GRCm39)	V23A	probably benign	Het
Chpt1	A	G	10: 88,312,943 (GRCm39)	F290L	probably damaging	Het
Clca3b	C	T	3: 144,533,072 (GRCm39)	W653*	probably null	Het
Coa8	A	G	12: 111,688,189 (GRCm39)	*45W	probably null	Het
Cpb2	A	T	14: 75,479,868 (GRCm39)		probably benign	Het
Cul9	A	G	17: 46,836,001 (GRCm39)	V1215A	possibly damaging	Het
Cxxc4	A	T	3: 133,945,431 (GRCm39)	N4I	unknown	Het
Eps8l1	G	T	7: 4,464,016 (GRCm39)	V47F	possibly damaging	Het
Exoc6	T	C	19: 37,587,097 (GRCm39)	I537T	probably damaging	Het
Fbn2	T	C	18: 58,176,591 (GRCm39)	Y2040C	probably damaging	Het
Gfm2	T	G	13: 97,282,889 (GRCm39)		probably benign	Het
Jak2	A	T	19: 29,254,240 (GRCm39)	M187L	probably benign	Het
Kif5b	A	G	18: 6,224,047 (GRCm39)	V247A	probably benign	Het
Klhl22	T	C	16: 17,589,612 (GRCm39)	V91A	probably damaging	Het
Ldhd	T	C	8: 112,356,894 (GRCm39)	S17G	probably benign	Het
Madd	C	A	2: 90,988,359 (GRCm39)	E1223*	probably null	Het
Mecom	T	C	3: 30,034,639 (GRCm39)	I346V	probably benign	Het
Mthfd1	C	T	12: 76,350,754 (GRCm39)	T712M	probably benign	Het
Nek4	C	T	14: 30,704,471 (GRCm39)	T662M	probably benign	Het
Or10g3b	T	A	14: 52,586,768 (GRCm39)	H245L	probably damaging	Het
Or2y1b	C	T	11: 49,209,155 (GRCm39)	P261S	possibly damaging	Het
Or4c117	T	A	2: 88,956,024 (GRCm39)	Q17L	possibly damaging	Het
Or4k42	A	G	2: 111,320,411 (GRCm39)	F31L	probably benign	Het
Or5ac19	A	T	16: 59,089,263 (GRCm39)	F256I	probably benign	Het
Or8c18	C	T	9: 38,203,343 (GRCm39)	T34I	probably benign	Het
Phc3	G	A	3: 31,020,007 (GRCm39)	T19I	possibly damaging	Het
Pla2g4e	T	A	2: 120,007,282 (GRCm39)	Q472L	probably benign	Het
Plcg2	C	T	8: 118,342,002 (GRCm39)	T1121I		Het
Plin2	T	C	4: 86,580,324 (GRCm39)	T146A	probably benign	Het
Pum1	T	G	4: 130,474,393 (GRCm39)	S488A	probably benign	Het
Robo1	A	G	16: 72,539,002 (GRCm39)		probably benign	Het
Rsbn1	T	C	3: 103,822,188 (GRCm39)	L102P	probably damaging	Het
Sbno2	A	T	10: 79,896,049 (GRCm39)	V939E	probably damaging	Het
Scarf1	A	T	11: 75,406,069 (GRCm39)	T118S	possibly damaging	Het
Sdcbp2	G	A	2: 151,429,113 (GRCm39)	V171M	probably benign	Het
Sh3pxd2b	T	C	11: 32,361,571 (GRCm39)	I261T	probably damaging	Het
Slc4a9	A	G	18: 36,673,787 (GRCm39)		probably null	Het
Smpdl3a	A	G	10: 57,683,977 (GRCm39)	Y245C	probably damaging	Het
Stk39	T	C	2: 68,222,462 (GRCm39)	I201V	probably damaging	Het
Timm44	A	G	8: 4,324,204 (GRCm39)	L25P	possibly damaging	Het
Tinf2	T	C	14: 55,917,859 (GRCm39)	H210R	probably benign	Het
Tmem168	A	T	6: 13,591,446 (GRCm39)	Y457N	probably benign	Het
Topbp1	T	C	9: 103,200,727 (GRCm39)	S587P	probably benign	Het
Tpp1	T	A	7: 105,398,156 (GRCm39)	I336F	probably benign	Het
Ttc28	G	A	5: 111,424,896 (GRCm39)	V1574I	probably benign	Het
Tut4	A	G	4: 108,400,029 (GRCm39)	K1277E	probably damaging	Het
Vmn2r52	A	T	7: 9,905,181 (GRCm39)	D219E	probably benign	Het
Zbtb40	G	T	4: 136,745,904 (GRCm39)	A43E	probably damaging	Het
Zfp970	G	A	2: 177,167,010 (GRCm39)	A195T	probably damaging	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
R5061:Acot4	UTSW	12	84,085,475 (GRCm39)	missense	probably benign	0.03
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
R9246:Acot4	UTSW	12	84,090,097 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AACATCCTTTGGTGCTCGGTAAC -3'
(R):5'- CATTCTCCTCAGGTCATGGC -3'

Sequencing Primer
(F):5'- GGACAACTTGCAAGAGTCAGTTCTC -3'
(R):5'- TCCTCAGGTCATGGCCCAAC -3'

Posted On

2021-10-11