Mutagenetix > Incidental Mutation

Incidental Mutation 'R7500:Acaa1a'

581435

Institutional Source

Beutler Lab

Gene Symbol

Acaa1a

Ensembl Gene

ENSMUSG00000036138

Gene Name

acetyl-Coenzyme A acyltransferase 1A

Synonyms

Acaa1, D9Ertd25e, peroxisomal 3-ketoacyl-CoA thiolase, thiolase A, PTL

MMRRC Submission

045573-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7500 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119170094-119179361 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119173564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 146 (M146V)

Ref Sequence

ENSEMBL: ENSMUSP00000042351 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035092] [ENSMUST00000039784] [ENSMUST00000139870] [ENSMUST00000170400] [ENSMUST00000175743] [ENSMUST00000176351] [ENSMUST00000176397] [ENSMUST00000176546] [ENSMUST00000177463]

AlphaFold

Q921H8

Predicted Effect

probably benign
Transcript: ENSMUST00000035092

SMART Domains

Protein: ENSMUSP00000035092
Gene: ENSMUSG00000032508

Domain	Start	End	E-Value	Type
DEATH	19	109	7.17e-15	SMART
TIR	160	296	3.39e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000039784
AA Change: M146V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000042351
Gene: ENSMUSG00000036138
AA Change: M146V

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	38	291	3.6e-88	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: ENSMUST00000139870

SMART Domains

Protein: ENSMUSP00000115746
Gene: ENSMUSG00000032508

Domain	Start	End	E-Value	Type
Pfam:Death	50	109	3.5e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170400

SMART Domains

Protein: ENSMUSP00000131982
Gene: ENSMUSG00000070280

Domain	Start	End	E-Value	Type
transmembrane domain	68	90	N/A	INTRINSIC
Pfam:Sugar_tr	150	555	1.2e-28	PFAM
Pfam:MFS_1	178	514	7.6e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175743
AA Change: M146V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000135439
Gene: ENSMUSG00000036138
AA Change: M146V

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	35	291	4.2e-90	PFAM
Pfam:Thiolase_C	298	337	8.7e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176351

SMART Domains

Protein: ENSMUSP00000134926
Gene: ENSMUSG00000036138

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	35	98	2.6e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176397
AA Change: M146V

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000135191
Gene: ENSMUSG00000036138
AA Change: M146V

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	35	152	4.9e-38	PFAM
Pfam:Thiolase_N	148	246	4.8e-34	PFAM
Pfam:Thiolase_C	214	328	5.9e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176546
AA Change: M41V

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000134981
Gene: ENSMUSG00000036138
AA Change: M41V

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	1	110	4.1e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177463
AA Change: M146V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000135310
Gene: ENSMUSG00000036138
AA Change: M146V

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	35	199	3.2e-50	PFAM

Meta Mutation Damage Score

0.0919

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (49/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	C	T	11: 7,094,762 (GRCm39)	R563C	probably damaging	Het
Ambn	A	T	5: 88,609,493 (GRCm39)	Y67F	possibly damaging	Het
Ankrd42	T	A	7: 92,241,080 (GRCm39)	E426D	probably benign	Het
Ankzf1	A	G	1: 75,174,623 (GRCm39)	T538A	probably benign	Het
Arhgap20	A	G	9: 51,751,802 (GRCm39)	I418V	probably benign	Het
Arhgef28	A	G	13: 98,115,003 (GRCm39)	Y616H	probably benign	Het
B4galt4	T	C	16: 38,588,376 (GRCm39)	F340S	probably damaging	Het
Bmp1	C	T	14: 70,727,562 (GRCm39)	E674K	probably benign	Het
Ccr9	T	A	9: 123,608,534 (GRCm39)	V72D	probably damaging	Het
Chd2	T	A	7: 73,101,556 (GRCm39)	K1390I	probably damaging	Het
Col5a3	C	T	9: 20,711,585 (GRCm39)	R513Q	unknown	Het
Cracd	A	G	5: 76,805,905 (GRCm39)	R126G	unknown	Het
Cttnbp2	G	T	6: 18,378,419 (GRCm39)	N1472K	probably benign	Het
Edn3	A	G	2: 174,621,328 (GRCm39)		probably null	Het
Eps15l1	A	G	8: 73,136,634 (GRCm39)	F331L	probably damaging	Het
Gm45337	CACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCTACAGCCTCC	CACAGCCTCC	7: 141,698,021 (GRCm39)		probably benign	Het
Lrrc56	A	G	7: 140,789,443 (GRCm39)	S487G	probably benign	Het
Moxd2	A	G	6: 40,868,746 (GRCm39)	T93A	probably benign	Het
Ngp	G	T	9: 110,248,833 (GRCm39)		probably null	Het
Npr2	T	C	4: 43,650,415 (GRCm39)	V970A	probably damaging	Het
Or4a79	T	C	2: 89,552,281 (GRCm39)	Y58C	possibly damaging	Het
Or5an10	T	C	19: 12,276,041 (GRCm39)	S152G	probably damaging	Het
Or8b9	T	C	9: 37,766,314 (GRCm39)	S67P	probably damaging	Het
Or8g28	T	G	9: 39,169,762 (GRCm39)	I69L	probably benign	Het
Pacc1	A	G	1: 191,078,910 (GRCm39)		probably null	Het
Pdf	A	T	8: 107,773,781 (GRCm39)	F221I	probably damaging	Het
Plekhn1	A	C	4: 156,317,771 (GRCm39)	S205R	probably benign	Het
Ppp6r1	G	A	7: 4,639,129 (GRCm39)	A606V	probably benign	Het
Prpf38b	C	T	3: 108,812,446 (GRCm39)	V256I	probably benign	Het
Rbbp5	T	A	1: 132,421,879 (GRCm39)	H291Q	probably benign	Het
Rnf169	T	C	7: 99,629,445 (GRCm39)	E66G	probably damaging	Het
Rp1	T	A	1: 4,381,501 (GRCm39)	N328Y	unknown	Het
Skint5	A	T	4: 113,417,035 (GRCm39)	V1138E	unknown	Het
Slc27a4	T	C	2: 29,702,717 (GRCm39)	V539A	probably damaging	Het
Smo	G	T	6: 29,755,534 (GRCm39)	R402L	probably benign	Het
Srgap2	A	T	1: 131,364,569 (GRCm39)	L4Q	probably damaging	Het
Tbxas1	A	T	6: 38,959,146 (GRCm39)	R110*	probably null	Het
Thoc7	A	C	14: 13,951,204 (GRCm38)		probably null	Het
Tmub1	G	A	5: 24,652,507 (GRCm39)		probably benign	Het
Tnrc6a	A	G	7: 122,772,673 (GRCm39)		probably null	Het
Traj19	T	A	14: 54,437,860 (GRCm39)	H6Q	unknown	Het
Trim30c	T	C	7: 104,036,758 (GRCm39)	E200G	probably benign	Het
Ubqlnl	A	T	7: 103,798,048 (GRCm39)	I483N	probably damaging	Het
Usp25	G	T	16: 76,874,089 (GRCm39)	R555L	probably damaging	Het
Vgll4	A	G	6: 114,839,293 (GRCm39)	S233P	probably damaging	Het
Vps13b	G	A	15: 35,910,670 (GRCm39)	C3478Y	possibly damaging	Het
Vwa8	T	A	14: 79,162,686 (GRCm39)		probably null	Het
Zfp977	A	G	7: 42,229,629 (GRCm39)	Y299H	probably damaging	Het
Zmynd11	T	A	13: 9,785,434 (GRCm39)	H17L	probably benign	Het

Other mutations in Acaa1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0632:Acaa1a	UTSW	9	119,176,884 (GRCm39)	unclassified	probably benign
R3418:Acaa1a	UTSW	9	119,178,556 (GRCm39)	critical splice acceptor site	probably null
R4617:Acaa1a	UTSW	9	119,178,006 (GRCm39)	missense	probably damaging	1.00
R4908:Acaa1a	UTSW	9	119,177,772 (GRCm39)	missense	probably benign
R4912:Acaa1a	UTSW	9	119,171,827 (GRCm39)	missense	probably damaging	1.00
R6351:Acaa1a	UTSW	9	119,170,630 (GRCm39)	nonsense	probably null
R6586:Acaa1a	UTSW	9	119,178,604 (GRCm39)	splice site	probably null
R7040:Acaa1a	UTSW	9	119,178,104 (GRCm39)	missense	probably damaging	1.00
R8993:Acaa1a	UTSW	9	119,178,418 (GRCm39)	critical splice acceptor site	probably null
R9173:Acaa1a	UTSW	9	119,170,190 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTGTACCCTGACCTTGGTC -3'
(R):5'- TTAGCAGTTCCCCAGGGTAC -3'

Sequencing Primer
(F):5'- TTGACCCTCGGGACCATC -3'
(R):5'- GGTACCTTAGAGACAAACTCCCCTTC -3'

Posted On

2019-10-17