Mutagenetix > Incidental Mutation

Incidental Mutation 'R7298:Acaa1b'

566809

Institutional Source

Beutler Lab

Gene Symbol

Acaa1b

Ensembl Gene

ENSMUSG00000010651

Gene Name

acetyl-Coenzyme A acyltransferase 1B

Synonyms

thiolase B

MMRRC Submission

045402-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7298 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118977111-118986149 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 118980915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 172 (E172K)

Ref Sequence

ENSEMBL: ENSMUSP00000010795 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010795] [ENSMUST00000140326] [ENSMUST00000165231]

AlphaFold

Q8VCH0

Predicted Effect

probably benign
Transcript: ENSMUST00000010795
AA Change: E172K

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

SMART Domains

Protein: ENSMUSP00000010795
Gene: ENSMUSG00000010651
AA Change: E172K

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: ENSMUST00000140326

SMART Domains

Protein: ENSMUSP00000122380
Gene: ENSMUSG00000038060

Domain	Start	End	E-Value	Type
coiled coil region	127	154	N/A	INTRINSIC
low complexity region	1025	1042	N/A	INTRINSIC
low complexity region	1343	1354	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165231

SMART Domains

Protein: ENSMUSP00000128874
Gene: ENSMUSG00000038060

Domain	Start	End	E-Value	Type
coiled coil region	127	154	N/A	INTRINSIC
low complexity region	1025	1042	N/A	INTRINSIC
low complexity region	1333	1354	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

96% (52/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,807,106 (GRCm39)	T51S	probably benign	Het
Abcc1	A	G	16: 14,214,336 (GRCm39)	D204G	possibly damaging	Het
Adamts5	G	A	16: 85,696,806 (GRCm39)	T117I	probably benign	Het
Agmat	A	G	4: 141,474,275 (GRCm39)	E52G	possibly damaging	Het
Alg9	C	T	9: 50,690,361 (GRCm39)	A121V	probably damaging	Het
Atf7ip2	T	C	16: 10,027,032 (GRCm39)	I100T	possibly damaging	Het
Calm2	T	C	17: 87,750,165 (GRCm39)		probably null	Het
Cfap44	A	T	16: 44,301,775 (GRCm39)	M1838L	probably benign	Het
Cym	A	G	3: 107,127,009 (GRCm39)	Y49H	probably benign	Het
Dchs1	G	A	7: 105,404,338 (GRCm39)	R2735*	probably null	Het
Dnajc6	T	C	4: 101,463,808 (GRCm39)	I187T	probably benign	Het
Fam151a	G	T	4: 106,592,725 (GRCm39)	R69L	possibly damaging	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 100,837,777 (GRCm39)		probably benign	Het
Gm9922	C	A	14: 101,966,961 (GRCm39)	G97V	unknown	Het
Hacl1	A	T	14: 31,338,443 (GRCm39)	M378K	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ighv1-82	A	T	12: 115,916,574 (GRCm39)	I6N	possibly damaging	Het
Kctd19	A	C	8: 106,109,616 (GRCm39)	V942G	probably benign	Het
Lce1l	C	T	3: 92,757,483 (GRCm39)	C125Y	unknown	Het
Mmp8	T	C	9: 7,560,449 (GRCm39)	F42S	probably damaging	Het
Myom2	T	C	8: 15,148,411 (GRCm39)	L529P	probably damaging	Het
Nectin3	A	T	16: 46,268,759 (GRCm39)	Y548N	probably damaging	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or4c12b	T	C	2: 89,646,865 (GRCm39)	F59S	probably damaging	Het
Or6aa1	T	A	7: 86,044,131 (GRCm39)	T192S	probably damaging	Het
Otof	T	A	5: 30,545,614 (GRCm39)	I514F	probably damaging	Het
Pira12	T	A	7: 3,898,264 (GRCm39)	I353F	possibly damaging	Het
Plch1	G	T	3: 63,623,458 (GRCm39)	S603*	probably null	Het
Ppa1	T	A	10: 61,502,691 (GRCm39)	D171E	probably benign	Het
Pramel23	C	A	4: 143,425,075 (GRCm39)	D123Y	probably benign	Het
Prss34	T	C	17: 25,518,737 (GRCm39)	C240R	probably damaging	Het
Ptpre	A	G	7: 135,285,016 (GRCm39)	D714G	probably damaging	Het
Ranbp9	A	G	13: 43,633,936 (GRCm39)	F157L	probably benign	Het
Rbbp6	A	G	7: 122,600,417 (GRCm39)	K1475E	unknown	Het
Retnlg	A	G	16: 48,693,237 (GRCm39)	N5D	probably benign	Het
Rev1	T	C	1: 38,092,185 (GRCm39)	T1245A	probably damaging	Het
Rngtt	G	T	4: 33,362,927 (GRCm39)	L360F	probably damaging	Het
Scrib	A	C	15: 75,936,610 (GRCm39)	V447G	probably damaging	Het
Slc22a6	C	A	19: 8,598,684 (GRCm39)	A247E	possibly damaging	Het
Slc25a20	G	A	9: 108,539,343 (GRCm39)		probably benign	Het
Spag16	T	A	1: 69,958,585 (GRCm39)		probably null	Het
Stx3	C	T	19: 11,767,412 (GRCm39)	W87*	probably null	Het
Syngap1	T	A	17: 27,181,961 (GRCm39)	M1158K	possibly damaging	Het
Tmed9	C	A	13: 55,741,107 (GRCm39)	H41N	possibly damaging	Het
Trav15-2-dv6-2	G	A	14: 53,887,242 (GRCm39)	S54N	probably benign	Het
Tyk2	C	T	9: 21,020,156 (GRCm39)	V1001I	probably benign	Het
Ugt8a	A	G	3: 125,709,065 (GRCm39)	V15A	probably benign	Het
Uhrf2	A	G	19: 30,065,949 (GRCm39)	E661G	probably benign	Het
Vmn2r77	T	A	7: 86,449,979 (GRCm39)	I75N	probably benign	Het
Zfp346	T	G	13: 55,278,416 (GRCm39)	V258G	probably damaging	Het
Zfp87	T	A	13: 74,520,513 (GRCm39)	K188N	possibly damaging	Het
Zgrf1	C	A	3: 127,377,299 (GRCm39)	S848*	probably null	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
R7330:Acaa1b	UTSW	9	118,977,450 (GRCm39)	missense	possibly damaging	0.71
R9118:Acaa1b	UTSW	9	118,985,957 (GRCm39)	missense	probably benign	0.01
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'- CATTGACGAGAAAATTCCCTGG -3'
(R):5'- TCTTCAATGCCTGTCACTGG -3'

Sequencing Primer
(F):5'- CGAGAAAATTCCCTGGTGTATACAC -3'
(R):5'- ACTGCTTTCCTGGAGGGCTC -3'

Posted On

2019-06-26