Mutagenetix > Incidental Mutation

Incidental Mutation 'R9118:Acaa1b'

692646

Institutional Source

Beutler Lab

Gene Symbol

Acaa1b

Ensembl Gene

ENSMUSG00000010651

Gene Name

acetyl-Coenzyme A acyltransferase 1B

Synonyms

thiolase B

MMRRC Submission

068921-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9118 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118977111-118986149 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118985957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 36 (S36T)

Ref Sequence

ENSEMBL: ENSMUSP00000010795 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010795] [ENSMUST00000093527]

AlphaFold

Q8VCH0

Predicted Effect

probably benign
Transcript: ENSMUST00000010795
AA Change: S36T

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000010795
Gene: ENSMUSG00000010651
AA Change: S36T

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	38	291	6.7e-90	PFAM
Pfam:Thiolase_C	298	421	3e-53	PFAM
Pfam:ACP_syn_III_C	329	420	1.8e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093527

SMART Domains

Protein: ENSMUSP00000091246
Gene: ENSMUSG00000074029

Domain	Start	End	E-Value	Type
Pfam:DUF3915	11	80	3.1e-10	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (31/32)

MGI Phenotype

PHENOTYPE: Mice homozygous for a disruption in this gene appear normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aifm2	C	T	10: 61,561,681 (GRCm39)	T9I	probably benign	Het
Ano5	T	A	7: 51,220,122 (GRCm39)	F421I	probably damaging	Het
Cacna1a	G	A	8: 85,262,715 (GRCm39)	V372M	probably damaging	Het
Col6a5	A	T	9: 105,755,853 (GRCm39)		probably benign	Het
Colgalt2	A	G	1: 152,378,906 (GRCm39)		probably benign	Het
Crybg1	T	C	10: 43,879,925 (GRCm39)	D421G	possibly damaging	Het
Dgat1	A	T	15: 76,386,718 (GRCm39)	W440R	probably damaging	Het
Dnah5	TGTCCGACTACAACATCGAGACGGCCAAGCGCGTC	TGTC	15: 28,401,994 (GRCm39)		probably null	Het
Dnai7	A	G	6: 145,120,900 (GRCm39)	Y691H	probably damaging	Het
Dnai7	A	G	6: 145,120,971 (GRCm39)	L667P	probably damaging	Het
Eif4h	C	A	5: 134,656,481 (GRCm39)	V70L	probably benign	Het
Gabrd	C	A	4: 155,470,475 (GRCm39)	V326L	possibly damaging	Het
Krt1c	C	T	15: 101,722,976 (GRCm39)	E341K	probably damaging	Het
Lrp4	C	T	2: 91,308,927 (GRCm39)	A538V	possibly damaging	Het
Mfap3l	G	A	8: 61,109,716 (GRCm39)	V31M	probably damaging	Het
Mroh2b	T	C	15: 4,991,573 (GRCm39)	I1557T	possibly damaging	Het
Or2y16	A	T	11: 49,335,409 (GRCm39)	I244F	probably benign	Het
Or5an11	T	C	19: 12,246,263 (GRCm39)	V223A	probably benign	Het
Pcyt2	G	A	11: 120,503,899 (GRCm39)	P183L		Het
Rapsn	A	G	2: 90,875,378 (GRCm39)	H387R	probably damaging	Het
Scaf11	G	A	15: 96,319,886 (GRCm39)	A259V	probably benign	Het
Septin9	A	G	11: 117,157,398 (GRCm39)	D11G	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Slc7a2	T	A	8: 41,351,994 (GRCm39)	I19N	possibly damaging	Het
Synpr	T	C	14: 13,608,673 (GRCm38)	V171A	probably damaging	Het
Tmed7	T	C	18: 46,726,338 (GRCm39)	N139S	probably benign	Het
Tnks1bp1	G	T	2: 84,893,720 (GRCm39)	G1216W	probably damaging	Het
Ush2a	T	A	1: 188,386,839 (GRCm39)	V2338E	probably damaging	Het
Vmn1r152	A	T	7: 22,222,992 (GRCm39)	I201F		Het
Vmn2r106	C	A	17: 20,505,667 (GRCm39)	W9L	probably benign	Het
Vmn2r9	A	G	5: 108,990,937 (GRCm39)	V808A	probably damaging	Het
Zfp646	A	G	7: 127,480,810 (GRCm39)	T996A		Het
Zng1	T	C	19: 24,920,048 (GRCm39)	R190G	probably damaging	Het

Other mutations in Acaa1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03012:Acaa1b	APN	9	118,986,014 (GRCm39)	missense	probably benign	0.00
R0330:Acaa1b	UTSW	9	118,983,038 (GRCm39)	missense	probably damaging	1.00
R1036:Acaa1b	UTSW	9	118,979,884 (GRCm39)	unclassified	probably benign
R1916:Acaa1b	UTSW	9	118,985,730 (GRCm39)	missense	probably damaging	1.00
R3716:Acaa1b	UTSW	9	118,985,709 (GRCm39)	missense	probably benign	0.06
R4805:Acaa1b	UTSW	9	118,986,014 (GRCm39)	missense	probably benign	0.00
R5535:Acaa1b	UTSW	9	118,977,474 (GRCm39)	missense	probably damaging	1.00
R5732:Acaa1b	UTSW	9	118,977,462 (GRCm39)	missense	possibly damaging	0.81
R6883:Acaa1b	UTSW	9	118,985,728 (GRCm39)	missense	possibly damaging	0.86
R7298:Acaa1b	UTSW	9	118,980,915 (GRCm39)	missense	probably benign
R7330:Acaa1b	UTSW	9	118,977,450 (GRCm39)	missense	possibly damaging	0.71
R9248:Acaa1b	UTSW	9	118,983,002 (GRCm39)	missense	probably benign	0.01
R9405:Acaa1b	UTSW	9	118,978,506 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGCTTCACGTCCTGGAGAACC -3'
(R):5'- CGTCCTTAATTCACTGGGGTG -3'

Sequencing Primer
(F):5'- TGGAGAACCGCGGTCAACAC -3'
(R):5'- TCACTGGGGTGAGCGCC -3'

Posted On

2021-12-30