Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01548:Acot3'

93190

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acot3

Ensembl Gene

ENSMUSG00000021228

Gene Name

acyl-CoA thioesterase 3

Synonyms

Pte2a, PTE-Ia

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

IGL01548

Quality Score

Status

Chromosome

Chromosomal Location

84052144-84060402 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84057089 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 224 (T224I)

Ref Sequence

ENSEMBL: ENSMUSP00000021653 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021653] [ENSMUST00000120927] [ENSMUST00000223080]

AlphaFold

Q9QYR7

Predicted Effect

probably benign
Transcript: ENSMUST00000021653
AA Change: T224I

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000021653
Gene: ENSMUSG00000021228
AA Change: T224I

Domain	Start	End	E-Value	Type
Pfam:Bile_Hydr_Trans	27	152	7.3e-47	PFAM
low complexity region	158	172	N/A	INTRINSIC
Pfam:BAAT_C	214	423	3.7e-89	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120927
AA Change: T213I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000112678
Gene: ENSMUSG00000021228
AA Change: T213I

Domain	Start	End	E-Value	Type
Pfam:Bile_Hydr_Trans	15	142	1.9e-39	PFAM
low complexity region	147	161	N/A	INTRINSIC
Pfam:BAAT_C	203	412	1.7e-85	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180751

Predicted Effect

unknown
Transcript: ENSMUST00000221229
AA Change: T71I

Predicted Effect

probably benign
Transcript: ENSMUST00000223080
AA Change: T224I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	T	C	2: 130,814,259	N110D	probably damaging	Het
Adamts18	C	T	8: 113,764,299	G512E	probably damaging	Het
Atp4b	A	G	8: 13,389,679	I181T	probably damaging	Het
Bcl11a	A	G	11: 24,163,346	I230V	probably benign	Het
Cenpj	C	A	14: 56,532,319	V1138L	probably benign	Het
Cep78	A	G	19: 15,981,200		probably benign	Het
Clec2j	T	A	6: 128,655,978		noncoding transcript	Het
Col5a3	T	C	9: 20,803,000		probably benign	Het
Cpne6	A	T	14: 55,512,726	T105S	probably damaging	Het
Csmd1	A	T	8: 16,288,646	Y482*	probably null	Het
Ctrl	C	A	8: 105,933,258		probably benign	Het
Dhcr24	T	A	4: 106,573,871	C252*	probably null	Het
Dnah17	G	A	11: 118,098,612	P1261S	probably benign	Het
Dnaic2	T	C	11: 114,752,942	L466P	probably damaging	Het
Dync2h1	A	T	9: 7,071,922	F3036Y	probably damaging	Het
Eef1akmt2	A	C	7: 132,831,405	S191A	probably damaging	Het
Fam205c	T	C	4: 42,868,564	E353G	probably benign	Het
Fat4	G	A	3: 39,009,257	C4454Y	probably damaging	Het
Fat4	T	C	3: 38,887,758	S267P	probably damaging	Het
Frrs1	T	C	3: 116,885,185	C219R	probably damaging	Het
Gabra6	T	A	11: 42,317,023	Q207L	probably damaging	Het
Gm19668	A	T	10: 77,798,408	C242*	probably null	Het
Gm2840	G	A	5: 96,174,277		noncoding transcript	Het
Gm6614	A	G	6: 141,992,512	I227T	possibly damaging	Het
Gm8765	A	G	13: 50,700,378	T91A	probably benign	Het
Gmcl1p1	G	A	X: 3,078,226	G423S	probably benign	Het
Golim4	C	T	3: 75,908,125		probably null	Het
Gucy1b1	G	T	3: 82,034,862	T530K	probably damaging	Het
Hacl1	A	T	14: 31,640,596	D31E	possibly damaging	Het
Hectd4	A	G	5: 121,364,660	T4276A	possibly damaging	Het
Henmt1	T	C	3: 108,942,779	I26T	probably damaging	Het
Hspa1l	G	A	17: 34,978,391	A469T	probably damaging	Het
Htra3	T	A	5: 35,664,076		probably null	Het
Lrrc28	C	A	7: 67,628,294		probably null	Het
Mfhas1	T	C	8: 35,590,459	L696P	probably damaging	Het
Mios	A	G	6: 8,234,252	K808E	possibly damaging	Het
Mtnr1b	A	G	9: 15,863,200	Y188H	probably damaging	Het
Myom1	A	G	17: 71,101,220		probably benign	Het
Naca	A	T	10: 128,040,904		probably benign	Het
Nckap1l	T	A	15: 103,462,720	V213D	probably benign	Het
Ndufa6	C	T	15: 82,354,081	V50M	possibly damaging	Het
Olfr1000	A	G	2: 85,608,761	W50R	probably benign	Het
Olfr1055	T	A	2: 86,347,733	Y11F	possibly damaging	Het
Olfr1260	T	A	2: 89,978,539	F254I	possibly damaging	Het
Olfr1465	A	G	19: 13,313,986	F100L	possibly damaging	Het
Olfr923	A	G	9: 38,828,350	T220A	probably benign	Het
Osbpl1a	T	C	18: 12,763,575	Y311C	probably damaging	Het
Parp11	A	C	6: 127,491,599	Y204S	probably damaging	Het
Pla2g4a	A	G	1: 149,932,656		probably null	Het
Plec	T	C	15: 76,189,258	R519G	probably benign	Het
Ppp2r5c	T	A	12: 110,567,827	Y375N	probably benign	Het
Prss35	C	A	9: 86,755,274	S32R	probably benign	Het
Prss57	C	T	10: 79,785,747		probably benign	Het
Ptprc	A	C	1: 138,099,481		probably null	Het
Rims1	A	G	1: 22,538,602	C188R	probably damaging	Het
Ripk4	G	T	16: 97,751,496	Y144*	probably null	Het
Rpgrip1	A	T	14: 52,126,271		probably benign	Het
Rps6ka4	A	G	19: 6,832,323	V378A	probably benign	Het
Rtf1	A	G	2: 119,712,108	K298E	probably benign	Het
Sdk1	T	C	5: 142,085,765	F1237L	possibly damaging	Het
Slc40a1	T	C	1: 45,909,492	K543E	probably benign	Het
Sorcs3	A	T	19: 48,794,168	I1041F	possibly damaging	Het
Taok3	T	C	5: 117,272,197	M818T	probably benign	Het
Tas2r119	T	A	15: 32,177,977	F230I	probably damaging	Het
Tbc1d8	T	C	1: 39,381,304	D716G	probably damaging	Het
Tfg	A	G	16: 56,701,102	S58P	probably damaging	Het
Thnsl1	A	G	2: 21,213,132	I45V	probably damaging	Het
Tle1	A	G	4: 72,170,718	L96P	probably damaging	Het
Tmem260	A	C	14: 48,480,325	S276R	possibly damaging	Het
Utp20	A	G	10: 88,764,781	S24P	probably damaging	Het
Vcam1	T	C	3: 116,115,951	I576V	probably benign	Het
Vmn1r27	G	T	6: 58,215,553	N105K	probably benign	Het
Vmn2r12	A	C	5: 109,093,027	Y73*	probably null	Het
Vmn2r86	T	C	10: 130,446,282	I822V	probably benign	Het
Wdr6	C	T	9: 108,574,897	V596I	possibly damaging	Het
Zfp946	A	T	17: 22,454,662	K132N	possibly damaging	Het

Other mutations in Acot3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02299:Acot3	APN	12	84058811	nonsense	probably null
IGL03407:Acot3	APN	12	84058641	missense	probably damaging	0.99
R0557:Acot3	UTSW	12	84058856	missense	probably damaging	1.00
R1388:Acot3	UTSW	12	84058987	missense	possibly damaging	0.82
R1600:Acot3	UTSW	12	84058710	missense	probably benign	0.00
R1711:Acot3	UTSW	12	84053573	missense	probably damaging	1.00
R1718:Acot3	UTSW	12	84053943	critical splice donor site	probably null
R1939:Acot3	UTSW	12	84058551	missense	probably benign
R2073:Acot3	UTSW	12	84053456	missense	possibly damaging	0.53
R2424:Acot3	UTSW	12	84053864	missense	probably damaging	0.98
R4688:Acot3	UTSW	12	84053917	missense	probably damaging	0.97
R4739:Acot3	UTSW	12	84058590	missense	probably benign	0.00
R5633:Acot3	UTSW	12	84058950	splice site	probably null
R6008:Acot3	UTSW	12	84057086	missense	probably damaging	1.00
R6746:Acot3	UTSW	12	84053474	missense	probably benign
R7017:Acot3	UTSW	12	84053303	start gained	probably benign
R8377:Acot3	UTSW	12	84058787	nonsense	probably null
R9345:Acot3	UTSW	12	84057092	missense	probably benign	0.21
R9684:Acot3	UTSW	12	84058876	missense	probably benign	0.16
X0066:Acot3	UTSW	12	84057038	missense	probably damaging	1.00

Posted On

2013-12-09