Mutagenetix > Incidental Mutation

Incidental Mutation 'R1388:Acot3'

162506

Institutional Source

Beutler Lab

Gene Symbol

Acot3

Ensembl Gene

ENSMUSG00000021228

Gene Name

acyl-CoA thioesterase 3

Synonyms

PTE-Ia, Pte2a

MMRRC Submission

039450-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R1388 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84098918-84107174 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 84105761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 409 (H409Q)

Ref Sequence

ENSEMBL: ENSMUSP00000112678 (fasta)

Gene Model

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

AlphaFold

Q9QYR7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021653
AA Change: H420Q

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021653
Gene: ENSMUSG00000021228
AA Change: H420Q

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

possibly damaging
Transcript: ENSMUST00000120927
AA Change: H409Q

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112678
Gene: ENSMUSG00000021228
AA Change: H409Q

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

probably benign
Transcript: ENSMUST00000221229

Predicted Effect

probably benign
Transcript: ENSMUST00000223080

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.9%
20x: 88.1%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra1	T	C	7: 139,453,919 (GRCm39)	V152A	probably damaging	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Atxn7l3	C	G	11: 102,183,261 (GRCm39)		probably benign	Het
Ccdc174	C	A	6: 91,858,225 (GRCm39)		probably null	Het
Ccdc38	A	T	10: 93,417,702 (GRCm39)		probably benign	Het
Clca4b	A	T	3: 144,622,415 (GRCm39)	V550D	probably benign	Het
Dab2ip	C	T	2: 35,611,268 (GRCm39)		probably benign	Het
Gm17661	GA	GAA	2: 90,917,709 (GRCm38)		noncoding transcript	Het
Gm2959	A	T	14: 42,235,660 (GRCm39)		noncoding transcript	Het
Gmnc	A	G	16: 26,782,662 (GRCm39)	L80P	probably damaging	Het
Gtf2ird1	T	C	5: 134,424,564 (GRCm39)	D394G	probably damaging	Het
Heatr1	T	C	13: 12,432,328 (GRCm39)		probably benign	Het
Il1a	T	C	2: 129,148,501 (GRCm39)	S70G	possibly damaging	Het
Kctd19	T	C	8: 106,118,683 (GRCm39)	S293G	probably null	Het
Klra4	T	C	6: 130,039,198 (GRCm39)		probably benign	Het
Kplce	G	T	3: 92,776,356 (GRCm39)	T109K	probably damaging	Het
Mr1	T	C	1: 155,008,249 (GRCm39)	E242G	probably damaging	Het
Mrnip	C	A	11: 50,087,772 (GRCm39)	A98E	probably benign	Het
Mybpc3	C	T	2: 90,953,219 (GRCm39)	P155S	probably benign	Het
Myh14	A	T	7: 44,314,546 (GRCm39)	Y126N	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or10g9	A	G	9: 39,911,948 (GRCm39)	S192P	probably damaging	Het
Or10j3	T	C	1: 173,031,445 (GRCm39)	V174A	probably benign	Het
Pnisr	T	C	4: 21,862,041 (GRCm39)	M243T	possibly damaging	Het
Ptprr	A	G	10: 116,109,657 (GRCm39)	S633G	probably benign	Het
Rasip1	T	A	7: 45,279,656 (GRCm39)	S300T	probably damaging	Het
Sbsn	A	T	7: 30,451,576 (GRCm39)	H197L	probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sim1	T	A	10: 50,772,090 (GRCm39)	I33N	probably damaging	Het
Speg	A	G	1: 75,407,104 (GRCm39)	D2878G	probably damaging	Het
Taf2	T	A	15: 54,900,021 (GRCm39)	N864I	probably benign	Het
Tmem43	G	T	6: 91,455,785 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,542,135 (GRCm39)	E25290G	probably damaging	Het
Ush2a	A	G	1: 188,255,515 (GRCm39)		probably benign	Het
Usp53	T	C	3: 122,751,277 (GRCm39)	E260G	probably damaging	Het
Vmn2r12	T	G	5: 109,240,840 (GRCm39)	Y91S	possibly damaging	Het
Vmn2r59	A	T	7: 41,695,133 (GRCm39)	N426K	probably benign	Het
Whamm	C	A	7: 81,236,038 (GRCm39)	L414I	probably damaging	Het
Zfhx4	A	G	3: 5,466,447 (GRCm39)	T2227A	probably damaging	Het
Zfp866	C	T	8: 70,218,834 (GRCm39)	R262Q	probably benign	Het

Other mutations in Acot3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Acot3	APN	12	84,103,863 (GRCm39)	missense	probably benign	0.11
IGL02299:Acot3	APN	12	84,105,585 (GRCm39)	nonsense	probably null
IGL03407:Acot3	APN	12	84,105,415 (GRCm39)	missense	probably damaging	0.99
R0557:Acot3	UTSW	12	84,105,630 (GRCm39)	missense	probably damaging	1.00
R1600:Acot3	UTSW	12	84,105,484 (GRCm39)	missense	probably benign	0.00
R1711:Acot3	UTSW	12	84,100,347 (GRCm39)	missense	probably damaging	1.00
R1718:Acot3	UTSW	12	84,100,717 (GRCm39)	critical splice donor site	probably null
R1939:Acot3	UTSW	12	84,105,325 (GRCm39)	missense	probably benign
R2073:Acot3	UTSW	12	84,100,230 (GRCm39)	missense	possibly damaging	0.53
R2424:Acot3	UTSW	12	84,100,638 (GRCm39)	missense	probably damaging	0.98
R4688:Acot3	UTSW	12	84,100,691 (GRCm39)	missense	probably damaging	0.97
R4739:Acot3	UTSW	12	84,105,364 (GRCm39)	missense	probably benign	0.00
R5633:Acot3	UTSW	12	84,105,724 (GRCm39)	splice site	probably null
R6008:Acot3	UTSW	12	84,103,860 (GRCm39)	missense	probably damaging	1.00
R6746:Acot3	UTSW	12	84,100,248 (GRCm39)	missense	probably benign
R7017:Acot3	UTSW	12	84,100,077 (GRCm39)	start gained	probably benign
R8377:Acot3	UTSW	12	84,105,561 (GRCm39)	nonsense	probably null
R9345:Acot3	UTSW	12	84,103,866 (GRCm39)	missense	probably benign	0.21
R9684:Acot3	UTSW	12	84,105,650 (GRCm39)	missense	probably benign	0.16
X0066:Acot3	UTSW	12	84,103,812 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCACCATATTGAGCCTCCTTAC -3'
(R):5'- TGAACTCCAGGGATGTAGCAGTGAC -3'

Sequencing Primer
(F):5'- ACTTCCCACTGTGTAAGGC -3'
(R):5'- AACGGCAGTTTCTGCAATGC -3'

Posted On

2014-03-17