Mutagenetix > Incidental Mutation

Incidental Mutation 'R9053:Acat3'

688537

Institutional Source

Beutler Lab

Gene Symbol

Acat3

Ensembl Gene

ENSMUSG00000062480

Gene Name

acetyl-Coenzyme A acetyltransferase 3

Synonyms

ACTL

MMRRC Submission

068879-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.376) question?

Stock #

R9053 (G1)

Quality Score

147.008

Status

Not validated

Chromosome

Chromosomal Location

13142720-13159482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13147402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 205 (V205A)

Ref Sequence

ENSEMBL: ENSMUSP00000045912 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043923] [ENSMUST00000089024] [ENSMUST00000151287] [ENSMUST00000160378]

AlphaFold

Q80X81

Predicted Effect

probably damaging
Transcript: ENSMUST00000043923
AA Change: V205A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045912
Gene: ENSMUSG00000062480
AA Change: V205A

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	8	267	2.9e-97	PFAM
Pfam:Thiolase_C	274	396	1.3e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000089024

SMART Domains

Protein: ENSMUSP00000086418
Gene: ENSMUSG00000068039

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	1	486	1.9e-132	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151287

SMART Domains

Protein: ENSMUSP00000116108
Gene: ENSMUSG00000068039

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	28	535	6.3e-156	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000160378
AA Change: V205A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125454
Gene: ENSMUSG00000062480
AA Change: V205A

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	5	248	5.6e-91	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	A	G	7: 28,316,616 (GRCm39)	F120L	possibly damaging	Het
Adh4	T	C	3: 138,128,045 (GRCm39)	V157A	probably damaging	Het
Ahsa2	T	C	11: 23,443,314 (GRCm39)	E146G	probably benign	Het
Ank3	T	C	10: 69,822,389 (GRCm39)	S353P		Het
Apob	T	C	12: 8,058,954 (GRCm39)	S2479P	possibly damaging	Het
Arhgef37	A	G	18: 61,641,760 (GRCm39)	L203P	probably damaging	Het
Arpp21	T	A	9: 111,984,583 (GRCm39)	N265I	possibly damaging	Het
Cfap20dc	T	C	14: 8,518,768 (GRCm38)		probably null	Het
Dagla	G	A	19: 10,246,615 (GRCm39)	R162C	probably damaging	Het
Ddx18	T	C	1: 121,489,135 (GRCm39)	D304G	probably damaging	Het
Dnah3	A	T	7: 119,618,987 (GRCm39)	L1638Q	possibly damaging	Het
Dnah6	T	A	6: 73,061,640 (GRCm39)	N2815I	possibly damaging	Het
Dnajc16	T	C	4: 141,510,371 (GRCm39)	D94G	probably benign	Het
Epor	G	T	9: 21,870,655 (GRCm39)	D408E	probably benign	Het
Erbb4	T	C	1: 68,289,779 (GRCm39)	N754S	possibly damaging	Het
Etaa1	A	G	11: 17,895,798 (GRCm39)	I773T	probably benign	Het
Fat4	T	A	3: 38,941,324 (GRCm39)	Y72*	probably null	Het
Fbxw18	T	G	9: 109,517,491 (GRCm39)	D404A	probably benign	Het
Flot1	T	A	17: 36,140,859 (GRCm39)	V283E	probably damaging	Het
Gm5145	G	T	17: 20,791,194 (GRCm39)	G191W	probably damaging	Het
Gpr161	G	A	1: 165,134,166 (GRCm39)		probably benign	Het
Helz	C	A	11: 107,563,761 (GRCm39)	Q1734K	unknown	Het
Hycc1	A	G	5: 24,184,579 (GRCm39)	C300R	possibly damaging	Het
Ints1	A	G	5: 139,747,822 (GRCm39)	V1195A	possibly damaging	Het
Khdc4	T	A	3: 88,596,582 (GRCm39)	L121Q	probably damaging	Het
Kmt2a	T	A	9: 44,732,716 (GRCm39)	T2534S	unknown	Het
Lingo3	T	C	10: 80,670,821 (GRCm39)	N370D	probably benign	Het
Lrp1b	A	G	2: 40,748,501 (GRCm39)	V3113A		Het
Mthfs	C	T	9: 89,097,454 (GRCm39)	L104F	probably damaging	Het
Nlgn1	A	T	3: 25,488,607 (GRCm39)	V576D	probably damaging	Het
Nlrc5	A	G	8: 95,217,013 (GRCm39)	R1001G	probably benign	Het
Obscn	C	T	11: 58,972,636 (GRCm39)	A2137T	probably benign	Het
Ociad1	T	A	5: 73,460,951 (GRCm39)	H70Q	probably damaging	Het
Opa1	T	A	16: 29,404,836 (GRCm39)	C11*	probably null	Het
Or4a76	A	G	2: 89,461,161 (GRCm39)	V27A	probably benign	Het
Parp10	T	C	15: 76,125,964 (GRCm39)	E408G	possibly damaging	Het
Pcdhb19	G	A	18: 37,631,143 (GRCm39)	E313K	probably benign	Het
Pmel	G	T	10: 128,551,918 (GRCm39)	A251S	probably benign	Het
Polr3d	G	T	14: 70,678,153 (GRCm39)	P181T	probably damaging	Het
Prmt3	A	T	7: 49,430,104 (GRCm39)	H69L	probably damaging	Het
Rc3h2	A	T	2: 37,289,628 (GRCm39)	Y395N	possibly damaging	Het
Rubcnl	A	T	14: 75,269,717 (GRCm39)	N125I	possibly damaging	Het
Shprh	T	C	10: 11,030,446 (GRCm39)	F221S	probably benign	Het
Skint5	A	T	4: 113,403,684 (GRCm39)	S1179R	unknown	Het
Skint6	C	A	4: 113,095,347 (GRCm39)	G104V	probably damaging	Het
Slc44a3	T	C	3: 121,320,839 (GRCm39)	Y54C	probably damaging	Het
Sp140	TTTTTTTTTTTTT	TTTTTTTTTTTTTTTTTT	1: 85,572,290 (GRCm39)		probably benign	Het
Spag5	A	T	11: 78,212,575 (GRCm39)	I1137F	probably benign	Het
Tchp	A	T	5: 114,853,916 (GRCm39)	Y277F	probably benign	Het
Tdrd12	A	C	7: 35,204,468 (GRCm39)	L267W	probably damaging	Het
Tfcp2	A	T	15: 100,396,092 (GRCm39)	I107N		Het
Vmn1r9	T	C	6: 57,048,513 (GRCm39)	V196A	probably benign	Het
Vmn2r62	T	A	7: 42,413,920 (GRCm39)	D841V		Het
Zzef1	G	T	11: 72,813,302 (GRCm39)	R2901L	probably benign	Het

Other mutations in Acat3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02049:Acat3	APN	17	13,144,207 (GRCm39)	missense	probably benign
IGL02570:Acat3	APN	17	13,159,181 (GRCm39)	missense	probably benign
R1340:Acat3	UTSW	17	13,148,564 (GRCm39)	splice site	probably benign
R1747:Acat3	UTSW	17	13,143,695 (GRCm39)	missense	possibly damaging	0.49
R1839:Acat3	UTSW	17	13,147,493 (GRCm39)	nonsense	probably null
R2126:Acat3	UTSW	17	13,146,294 (GRCm39)	missense	probably benign	0.00
R3758:Acat3	UTSW	17	13,146,354 (GRCm39)	splice site	probably benign
R3790:Acat3	UTSW	17	13,147,460 (GRCm39)	nonsense	probably null
R4206:Acat3	UTSW	17	13,146,273 (GRCm39)	missense	possibly damaging	0.67
R8714:Acat3	UTSW	17	13,147,516 (GRCm39)	missense	probably benign	0.09
R8931:Acat3	UTSW	17	13,147,405 (GRCm39)	missense	probably damaging	1.00
R8974:Acat3	UTSW	17	13,143,716 (GRCm39)	missense	probably damaging	0.97
R9060:Acat3	UTSW	17	13,145,293 (GRCm39)	missense
R9133:Acat3	UTSW	17	13,159,176 (GRCm39)	missense	probably benign
R9292:Acat3	UTSW	17	13,146,255 (GRCm39)	missense	probably benign	0.14
R9615:Acat3	UTSW	17	13,147,502 (GRCm39)	nonsense	probably null
Z1177:Acat3	UTSW	17	13,153,770 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGTGACCGTATCCTGCTGTG -3'
(R):5'- GCCCAGCTCATGAATTTGC -3'

Sequencing Primer
(F):5'- TCCAGACAAGGATGTTGCTAC -3'
(R):5'- CCAGCTCATGAATTTGCTGTTTTTG -3'

Posted On

2021-11-19