Mutagenetix > Incidental Mutation

Incidental Mutation 'R9133:Acat3'

693805

Institutional Source

Beutler Lab

Gene Symbol

Acat3

Ensembl Gene

ENSMUSG00000062480

Gene Name

acetyl-Coenzyme A acetyltransferase 3

Synonyms

ACTL

MMRRC Submission

068930-MU

Accession Numbers

Essential gene?

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

Stock #

R9133 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13142720-13159482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13159176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 4 (R4S)

Ref Sequence

ENSEMBL: ENSMUSP00000045912 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007005] [ENSMUST00000043923] [ENSMUST00000159697] [ENSMUST00000160378]

AlphaFold

Q80X81

Predicted Effect

probably benign
Transcript: ENSMUST00000007005

SMART Domains

Protein: ENSMUSP00000007005
Gene: ENSMUSG00000023832

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	8	267	8e-99	PFAM
Pfam:Thiolase_C	274	396	1.8e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000043923
AA Change: R4S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045912
Gene: ENSMUSG00000062480
AA Change: R4S

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: ENSMUST00000159697

SMART Domains

Protein: ENSMUSP00000125066
Gene: ENSMUSG00000023832

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	1	235	3.9e-91	PFAM
Pfam:Thiolase_C	242	364	2.4e-53	PFAM
Pfam:ACP_syn_III_C	273	364	9.7e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160378
AA Change: R4S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125454
Gene: ENSMUSG00000062480
AA Change: R4S

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

Coding Region Coverage

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

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	T	14: 68,814,547 (GRCm39)	C143*	probably null	Het
Adck5	A	G	15: 76,460,612 (GRCm39)		probably benign	Het
Aebp2	A	G	6: 140,579,441 (GRCm39)	D226G	probably damaging	Het
Ascc3	A	G	10: 50,630,175 (GRCm39)	I1755V	possibly damaging	Het
Aspm	C	T	1: 139,419,266 (GRCm39)	T2977M	probably damaging	Het
Cacna1a	A	G	8: 85,276,152 (GRCm39)	S582G	probably damaging	Het
Card14	T	C	11: 119,231,835 (GRCm39)	F801S	probably damaging	Het
Casp16	T	A	17: 23,771,003 (GRCm39)	D134V	probably damaging	Het
Cmya5	A	G	13: 93,234,108 (GRCm39)	S327P	possibly damaging	Het
Cutc	A	T	19: 43,755,727 (GRCm39)	D229V	possibly damaging	Het
Cyp21a1	C	A	17: 35,023,419 (GRCm39)		probably benign	Het
Dnah10	A	G	5: 124,859,423 (GRCm39)	K2130R	probably damaging	Het
Dsc1	C	T	18: 20,234,904 (GRCm39)	S250N	probably benign	Het
Edc4	T	C	8: 106,611,778 (GRCm39)		probably null	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Ehmt1	A	T	2: 24,729,635 (GRCm39)	I642K	possibly damaging	Het
Gjd2	T	C	2: 113,842,039 (GRCm39)	Q146R	probably benign	Het
Gm26661	A	G	14: 7,791,936 (GRCm38)	H117R	unknown	Het
H2-Oa	T	A	17: 34,313,505 (GRCm39)	D185E	probably damaging	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Hyal6	A	G	6: 24,734,585 (GRCm39)	R173G	possibly damaging	Het
Ica1	A	T	6: 8,659,921 (GRCm39)	V125D	probably benign	Het
Ift172	T	C	5: 31,442,867 (GRCm39)	T140A	probably benign	Het
Ighv9-4	T	A	12: 114,263,883 (GRCm39)	I17F	probably benign	Het
Igkv4-92	G	T	6: 68,732,248 (GRCm39)	T42N	probably damaging	Het
Kctd16	C	A	18: 40,392,069 (GRCm39)	P219Q	probably damaging	Het
Kdm5b	A	T	1: 134,530,323 (GRCm39)	I445F	probably benign	Het
Ksr2	A	G	5: 117,841,319 (GRCm39)	T598A	probably benign	Het
Lrrn1	C	T	6: 107,544,568 (GRCm39)	T122I	probably damaging	Het
Mars2	A	G	1: 55,276,721 (GRCm39)	D108G	possibly damaging	Het
Ms4a14	A	G	19: 11,281,038 (GRCm39)	W507R		Het
Ncoa3	A	G	2: 165,910,381 (GRCm39)	T1266A	possibly damaging	Het
Neb	T	C	2: 52,083,256 (GRCm39)	K5650E	possibly damaging	Het
Nlrp4f	T	A	13: 65,332,883 (GRCm39)	K92*	probably null	Het
Nme4	G	T	17: 26,314,389 (GRCm39)	A13E	probably benign	Het
Nova1	G	T	12: 46,865,524 (GRCm39)	A4E	unknown	Het
Nphs1	G	T	7: 30,160,092 (GRCm39)	E124*	probably null	Het
Or10d4	T	A	9: 39,580,974 (GRCm39)	I207N	possibly damaging	Het
Or10d4b	T	A	9: 39,534,809 (GRCm39)	L128*	probably null	Het
Or5d14	T	C	2: 87,880,782 (GRCm39)	Y62C	probably damaging	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Ranbp2	T	C	10: 58,313,050 (GRCm39)	S1257P	probably damaging	Het
Ranbp3	T	C	17: 57,003,791 (GRCm39)		probably null	Het
Rasgrf1	A	G	9: 89,793,600 (GRCm39)	T126A	probably benign	Het
Rexo5	T	G	7: 119,444,667 (GRCm39)	L714R	probably damaging	Het
Rhobtb3	A	G	13: 76,020,512 (GRCm39)	Y597H	probably damaging	Het
Riox1	C	G	12: 83,998,221 (GRCm39)	Y252*	probably null	Het
Sh2d3c	T	C	2: 32,634,778 (GRCm39)	Y186H	possibly damaging	Het
Slc16a7	T	A	10: 125,066,536 (GRCm39)	T368S	probably benign	Het
Slc25a26	G	A	6: 94,511,143 (GRCm39)	V107I		Het
Slc4a5	A	T	6: 83,203,217 (GRCm39)	Y39F	possibly damaging	Het
Smarcad1	A	G	6: 65,049,035 (GRCm39)	K254E	probably damaging	Het
Sspo	G	T	6: 48,434,747 (GRCm39)	V1080L	possibly damaging	Het
Thsd7b	A	T	1: 129,843,382 (GRCm39)	T865S	probably benign	Het
Top1	C	T	2: 160,545,591 (GRCm39)	Q320*	probably null	Het
Trank1	T	A	9: 111,220,770 (GRCm39)	N2502K	possibly damaging	Het
Urad	T	C	5: 147,252,251 (GRCm39)	H67R	probably damaging	Het
Vamp5	A	C	6: 72,357,362 (GRCm39)		probably null	Het
Vmn1r62	A	G	7: 5,679,062 (GRCm39)	I248V	probably benign	Het
Wwc2	G	T	8: 48,305,007 (GRCm39)	Q873K	unknown	Het
Zcchc2	C	A	1: 105,958,535 (GRCm39)	S1002Y	probably damaging	Het
Zdhhc14	G	A	17: 5,803,283 (GRCm39)	R462H	probably benign	Het
Zfp788	A	G	7: 41,299,484 (GRCm39)	N707D		Het
Zfp964	A	G	8: 70,115,783 (GRCm39)	T128A	probably benign	Het
Zkscan16	T	C	4: 58,957,722 (GRCm39)	L668S	possibly damaging	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
R9053:Acat3	UTSW	17	13,147,402 (GRCm39)	missense	probably damaging	0.99
R9060:Acat3	UTSW	17	13,145,293 (GRCm39)	missense
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'- GGACTTTAAATCAGTGCTTTGCC -3'
(R):5'- TTCACCATCCCTGAGCTGAG -3'

Sequencing Primer
(F):5'- CTTTGCCAAGCCCAGGG -3'
(R):5'- CATCCCTGAGCTGAGGAGGAG -3'

Posted On

2022-01-20