Mutagenetix > Incidental Mutation

Incidental Mutation 'R6592:Acss3'

524650

Institutional Source

Beutler Lab

Gene Symbol

Acss3

Ensembl Gene

ENSMUSG00000035948

Gene Name

acyl-CoA synthetase short-chain family member 3

Synonyms

LOC380660, 8430416H19Rik

MMRRC Submission

044716-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R6592 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106769378-106959529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106859579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 340 (V340A)

Ref Sequence

ENSEMBL: ENSMUSP00000128209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044668] [ENSMUST00000165067]

AlphaFold

Q14DH7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044668
AA Change: V340A

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040823
Gene: ENSMUSG00000035948
AA Change: V340A

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	112	496	4.6e-67	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165067
AA Change: V340A

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128209
Gene: ENSMUSG00000035948
AA Change: V340A

Domain	Start	End	E-Value	Type
Pfam:ACAS_N	57	111	8.8e-22	PFAM
Pfam:AMP-binding	113	557	3.2e-81	PFAM
Pfam:AMP-binding_C	565	644	2.2e-22	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

94% (31/33)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Btbd17	T	C	11: 114,682,302 (GRCm39)	Y470C	probably damaging	Het
Clca3a1	G	C	3: 144,719,644 (GRCm39)	A442G	probably damaging	Het
Cyp4v3	A	T	8: 45,760,018 (GRCm39)	N511K	probably benign	Het
Efcab5	G	T	11: 77,004,436 (GRCm39)	Q1097K	possibly damaging	Het
Epha7	T	C	4: 28,813,482 (GRCm39)		probably null	Het
Exoc6	A	G	19: 37,560,360 (GRCm39)	T126A	probably benign	Het
Fnip2	T	C	3: 79,389,015 (GRCm39)	Q572R	probably benign	Het
Gm17430	C	T	18: 9,726,514 (GRCm39)	V53I	probably benign	Het
Gpr149	T	C	3: 62,437,961 (GRCm39)	D732G	probably benign	Het
Hdlbp	A	G	1: 93,340,083 (GRCm39)		probably null	Het
Herc2	A	G	7: 55,857,438 (GRCm39)		probably null	Het
Htt	C	T	5: 35,034,388 (GRCm39)	T1953I	possibly damaging	Het
Lgmn	C	T	12: 102,370,529 (GRCm39)	V134I	probably damaging	Het
Lhfpl7	A	G	5: 113,382,329 (GRCm39)	Y34C	probably damaging	Het
Lysmd1	A	G	3: 95,045,197 (GRCm39)	S148G	probably benign	Het
Man2a2	T	C	7: 80,002,947 (GRCm39)	D1054G	probably damaging	Het
Mcph1	A	G	8: 18,718,983 (GRCm39)	T640A	probably damaging	Het
Nat10	T	C	2: 103,584,495 (GRCm39)	E94G	probably null	Het
Or4a67	G	A	2: 88,598,471 (GRCm39)	H63Y	probably damaging	Het
Or5v1	T	A	17: 37,809,988 (GRCm39)	W149R	probably damaging	Het
Pgm3	A	G	9: 86,441,496 (GRCm39)	V367A	possibly damaging	Het
Ppp1r1a	A	C	15: 103,439,799 (GRCm39)	D164E	probably damaging	Het
Proca1	G	T	11: 78,095,779 (GRCm39)	S137I	probably benign	Het
Serinc5	T	C	13: 92,844,634 (GRCm39)	F459L	possibly damaging	Het
Slc12a8	T	C	16: 33,437,626 (GRCm39)		probably null	Het
Slc51a	T	C	16: 32,294,621 (GRCm39)	D321G	probably damaging	Het
Tchhl1	T	A	3: 93,378,116 (GRCm39)	D273E	probably damaging	Het
Tlk1	G	A	2: 70,544,497 (GRCm39)	R713C	probably damaging	Het
Tpr	T	C	1: 150,287,656 (GRCm39)	I465T	possibly damaging	Het
Usp1	A	G	4: 98,814,756 (GRCm39)	I5M	possibly damaging	Het
Zcchc14	T	C	8: 122,331,378 (GRCm39)		probably benign	Het

Other mutations in Acss3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:Acss3	APN	10	106,801,887 (GRCm39)	missense	probably benign
IGL00941:Acss3	APN	10	106,889,187 (GRCm39)	critical splice donor site	probably null
IGL00983:Acss3	APN	10	106,802,825 (GRCm39)	nonsense	probably null
IGL01010:Acss3	APN	10	106,859,710 (GRCm39)	splice site	probably benign
IGL02227:Acss3	APN	10	106,881,196 (GRCm39)	missense	probably benign
IGL02296:Acss3	APN	10	106,889,312 (GRCm39)	nonsense	probably null
IGL02319:Acss3	APN	10	106,784,611 (GRCm39)	missense	probably damaging	0.99
IGL03181:Acss3	APN	10	106,889,249 (GRCm39)	missense	probably damaging	1.00
R0032:Acss3	UTSW	10	106,959,156 (GRCm39)	missense	probably benign	0.13
R0032:Acss3	UTSW	10	106,959,156 (GRCm39)	missense	probably benign	0.13
R0279:Acss3	UTSW	10	106,920,732 (GRCm39)	missense	possibly damaging	0.95
R0418:Acss3	UTSW	10	106,859,773 (GRCm39)	missense	probably damaging	0.99
R0550:Acss3	UTSW	10	106,889,332 (GRCm39)	missense	probably damaging	1.00
R1114:Acss3	UTSW	10	106,824,740 (GRCm39)	missense	possibly damaging	0.89
R1491:Acss3	UTSW	10	106,773,169 (GRCm39)	missense	probably benign
R1625:Acss3	UTSW	10	106,773,263 (GRCm39)	critical splice donor site	probably null
R1771:Acss3	UTSW	10	106,773,061 (GRCm39)	missense	probably damaging	1.00
R1956:Acss3	UTSW	10	106,772,029 (GRCm39)	missense	probably benign	0.00
R2006:Acss3	UTSW	10	106,798,871 (GRCm39)	missense	possibly damaging	0.81
R2018:Acss3	UTSW	10	106,772,068 (GRCm39)	missense	probably benign	0.00
R2019:Acss3	UTSW	10	106,772,068 (GRCm39)	missense	probably benign	0.00
R2078:Acss3	UTSW	10	106,802,902 (GRCm39)	missense	possibly damaging	0.94
R2253:Acss3	UTSW	10	106,840,609 (GRCm39)	missense	probably damaging	1.00
R2391:Acss3	UTSW	10	106,959,348 (GRCm39)	missense	probably benign	0.00
R3082:Acss3	UTSW	10	106,859,576 (GRCm39)	missense	possibly damaging	0.94
R3083:Acss3	UTSW	10	106,859,576 (GRCm39)	missense	possibly damaging	0.94
R4072:Acss3	UTSW	10	106,959,446 (GRCm39)	unclassified	probably benign
R4086:Acss3	UTSW	10	106,889,313 (GRCm39)	missense	probably damaging	1.00
R4087:Acss3	UTSW	10	106,889,313 (GRCm39)	missense	probably damaging	1.00
R4089:Acss3	UTSW	10	106,889,313 (GRCm39)	missense	probably damaging	1.00
R4090:Acss3	UTSW	10	106,889,313 (GRCm39)	missense	probably damaging	1.00
R4406:Acss3	UTSW	10	106,889,198 (GRCm39)	missense	probably damaging	1.00
R4607:Acss3	UTSW	10	106,802,890 (GRCm39)	missense	possibly damaging	0.88
R4608:Acss3	UTSW	10	106,802,890 (GRCm39)	missense	possibly damaging	0.88
R4790:Acss3	UTSW	10	106,859,563 (GRCm39)	nonsense	probably null
R4834:Acss3	UTSW	10	106,920,666 (GRCm39)	critical splice donor site	probably null
R5130:Acss3	UTSW	10	106,840,586 (GRCm39)	missense	possibly damaging	0.87
R5303:Acss3	UTSW	10	106,920,712 (GRCm39)	missense	possibly damaging	0.74
R5365:Acss3	UTSW	10	106,840,589 (GRCm39)	missense	probably damaging	1.00
R5439:Acss3	UTSW	10	106,773,008 (GRCm39)	nonsense	probably null
R5617:Acss3	UTSW	10	106,787,851 (GRCm39)	missense	probably damaging	1.00
R5698:Acss3	UTSW	10	106,784,605 (GRCm39)	missense	probably damaging	1.00
R5726:Acss3	UTSW	10	106,959,183 (GRCm39)	missense	possibly damaging	0.63
R6154:Acss3	UTSW	10	106,959,210 (GRCm39)	missense	probably benign	0.02
R6298:Acss3	UTSW	10	106,920,717 (GRCm39)	missense	probably damaging	1.00
R6707:Acss3	UTSW	10	106,920,783 (GRCm39)	missense	probably damaging	1.00
R6999:Acss3	UTSW	10	106,889,362 (GRCm39)	missense	probably damaging	1.00
R7567:Acss3	UTSW	10	106,959,174 (GRCm39)	missense	probably benign	0.00
R8351:Acss3	UTSW	10	106,885,265 (GRCm39)	missense	probably damaging	0.98
R8451:Acss3	UTSW	10	106,885,265 (GRCm39)	missense	probably damaging	0.98
R8515:Acss3	UTSW	10	106,784,524 (GRCm39)	missense	possibly damaging	0.51
R8917:Acss3	UTSW	10	106,773,124 (GRCm39)	missense	probably benign
R8972:Acss3	UTSW	10	106,920,783 (GRCm39)	missense	probably damaging	1.00
R9308:Acss3	UTSW	10	106,959,282 (GRCm39)	missense	possibly damaging	0.93
R9387:Acss3	UTSW	10	106,959,255 (GRCm39)	missense	probably damaging	0.99
R9801:Acss3	UTSW	10	106,881,091 (GRCm39)	missense	possibly damaging	0.85
X0027:Acss3	UTSW	10	106,959,205 (GRCm39)	missense	probably benign	0.05
Z1177:Acss3	UTSW	10	106,840,638 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACGATGCTTCCTGTTGCC -3'
(R):5'- CCTCTCTTTAAGGGTGTGGTTAGAC -3'

Sequencing Primer
(F):5'- GCCATTCTTCCTTCACCGGTAC -3'
(R):5'- GTTGAACTGGACAATGTCTTCC -3'

Posted On

2018-06-22