Mutagenetix > Incidental Mutation

Incidental Mutation 'R5633:Acot3'

439994

Institutional Source

Beutler Lab

Gene Symbol

Acot3

Ensembl Gene

ENSMUSG00000021228

Gene Name

acyl-CoA thioesterase 3

Synonyms

PTE-Ia, Pte2a

MMRRC Submission

043284-MU

Accession Numbers

Essential gene?

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

Stock #

R5633 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84098918-84107174 bp(+) (GRCm39)

Type of Mutation

splice site (337 bp from exon)

DNA Base Change (assembly)

A to G at 84105724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q9QYR7

Predicted Effect

probably damaging
Transcript: ENSMUST00000021653
AA Change: D408G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021653
Gene: ENSMUSG00000021228
AA Change: D408G

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 damaging
Transcript: ENSMUST00000120927
AA Change: D397G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112678
Gene: ENSMUSG00000021228
AA Change: D397G

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 null
Transcript: ENSMUST00000221229

Predicted Effect

probably benign
Transcript: ENSMUST00000223080

Meta Mutation Damage Score

0.9082

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	A	4: 144,344,598 (GRCm39)	C125S	probably benign	Het
Abcb8	T	C	5: 24,608,107 (GRCm39)	L382P	probably damaging	Het
Acsl6	A	T	11: 54,228,015 (GRCm39)	Q345L	probably benign	Het
Adcy8	A	G	15: 64,571,134 (GRCm39)	S1170P	probably damaging	Het
Ankrd28	T	G	14: 31,457,022 (GRCm39)	D182A	probably damaging	Het
B3galt5	A	T	16: 96,116,709 (GRCm39)	H114L	probably benign	Het
Bcas2	T	A	3: 103,085,740 (GRCm39)	Y207*	probably null	Het
Best1	A	G	19: 9,969,467 (GRCm39)	L197P	probably benign	Het
Chil6	C	A	3: 106,296,068 (GRCm39)	C389F	probably damaging	Het
Chrna4	T	C	2: 180,671,253 (GRCm39)	T168A	probably damaging	Het
Ckmt1	C	G	2: 121,194,110 (GRCm39)		probably benign	Het
Dhcr7	T	C	7: 143,401,160 (GRCm39)	L441P	probably damaging	Het
Dmtn	T	C	14: 70,842,419 (GRCm39)	M365V	probably benign	Het
Dmxl1	T	A	18: 50,010,764 (GRCm39)	S974T	probably damaging	Het
Dnajb13	T	C	7: 100,156,626 (GRCm39)	D150G	probably benign	Het
Eef2k	C	A	7: 120,472,513 (GRCm39)		probably benign	Het
Elp2	T	A	18: 24,748,267 (GRCm39)	V213E	probably damaging	Het
Fbxo43	A	T	15: 36,162,241 (GRCm39)		probably null	Het
Gm11559	C	A	11: 99,755,412 (GRCm39)	C20*	probably null	Het
Gnb2	T	C	5: 137,527,454 (GRCm39)	I213V	probably benign	Het
Gnb5	C	T	9: 75,251,796 (GRCm39)	T306I	probably damaging	Het
Ica1	A	T	6: 8,667,257 (GRCm39)	I303N	possibly damaging	Het
Idh1	A	G	1: 65,204,295 (GRCm39)	Y272H	probably damaging	Het
Ikzf2	G	A	1: 69,578,256 (GRCm39)	Q273*	probably null	Het
Itpkb	A	T	1: 180,154,790 (GRCm39)	⇒1	probably benign	Het
Kntc1	C	T	5: 123,957,120 (GRCm39)	T2143I	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lmbrd1	C	A	1: 24,787,943 (GRCm39)	D464E	possibly damaging	Het
Med13	A	G	11: 86,169,757 (GRCm39)		probably benign	Het
Mn1	T	C	5: 111,568,192 (GRCm39)	F721L	possibly damaging	Het
Myo9a	T	A	9: 59,775,467 (GRCm39)	L1026Q	possibly damaging	Het
Or6c204	A	T	10: 129,022,718 (GRCm39)	F191I	probably benign	Het
P4htm	A	C	9: 108,456,922 (GRCm39)	D428E	probably damaging	Het
Parp8	C	T	13: 117,013,116 (GRCm39)	R602H	probably damaging	Het
Pkd2	T	A	5: 104,646,372 (GRCm39)	S726R	probably damaging	Het
Pla2g6	A	T	15: 79,183,342 (GRCm39)	I495N	possibly damaging	Het
Psmd5	A	G	2: 34,746,500 (GRCm39)	I359T	probably benign	Het
Rassf6	T	C	5: 90,751,977 (GRCm39)	H292R	possibly damaging	Het
Rnf145	T	C	11: 44,450,915 (GRCm39)	I413T	probably damaging	Het
Rpn2	T	A	2: 157,125,516 (GRCm39)	V9D	possibly damaging	Het
Rpp30	T	C	19: 36,064,390 (GRCm39)	L57P	probably damaging	Het
Slc41a1	A	G	1: 131,774,325 (GRCm39)	H464R	possibly damaging	Het
Slc47a1	G	T	11: 61,260,087 (GRCm39)	P163Q	probably damaging	Het
Smc4	T	A	3: 68,915,443 (GRCm39)	I165K	probably damaging	Het
Stra6l	T	A	4: 45,881,455 (GRCm39)	I439K	probably benign	Het
Syt9	C	T	7: 107,024,503 (GRCm39)	T132I	probably damaging	Het
Timd6	C	T	11: 46,465,433 (GRCm39)	S9L	unknown	Het
Trpm2	T	C	10: 77,774,187 (GRCm39)	I471V	possibly damaging	Het
Uap1l1	A	G	2: 25,253,361 (GRCm39)	M358T	probably benign	Het
Vmn1r91	A	T	7: 19,835,870 (GRCm39)	H263L	possibly damaging	Het
Zfp407	T	C	18: 84,579,169 (GRCm39)	D648G	probably benign	Het
Zpbp2	T	C	11: 98,445,584 (GRCm39)	I150T	probably damaging	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
R1388:Acot3	UTSW	12	84,105,761 (GRCm39)	missense	possibly damaging	0.82
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
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'- AGCGAGTTCTATGCCAGAGAGG -3'
(R):5'- TCAATAAGGCCTGCAGCTG -3'

Sequencing Primer
(F):5'- AGAGGCCTCCAAACGCCTG -3'
(R):5'- ACACAGTGGAAGCTTCCT -3'

Posted On

2016-11-08