Mutagenetix > Incidental Mutation

Incidental Mutation 'R4608:Acss3'

350897

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

041819-MU

Accession Numbers

Essential gene?

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

Stock #

R4608 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106769378-106959529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106802890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 452 (I452F)

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: I452F

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040823
Gene: ENSMUSG00000035948
AA Change: I452F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165067
AA Change: I452F

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128209
Gene: ENSMUSG00000035948
AA Change: I452F

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

Meta Mutation Damage Score

0.4414

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (80/80)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930022D16Rik	A	G	11: 109,308,855 (GRCm39)	I74V	unknown	Het
Adam10	T	C	9: 70,651,173 (GRCm39)	L66P	probably damaging	Het
Adamts18	A	T	8: 114,464,245 (GRCm39)	C738S	probably damaging	Het
Adamts7	T	G	9: 90,056,593 (GRCm39)	S221A	probably damaging	Het
Adrm1	A	G	2: 179,816,648 (GRCm39)		probably benign	Het
Aqp1	T	C	6: 55,313,624 (GRCm39)	V50A	possibly damaging	Het
Aqp4	T	C	18: 15,531,183 (GRCm39)	I193V	probably benign	Het
B130006D01Rik	A	T	11: 95,617,066 (GRCm39)		probably benign	Het
Bbs10	T	G	10: 111,136,681 (GRCm39)	I598S	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Ccdc121rt2	A	G	5: 112,597,764 (GRCm39)	S104G	possibly damaging	Het
Ccnl1	C	T	3: 65,854,131 (GRCm39)		probably benign	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dcdc2a	T	A	13: 25,245,223 (GRCm39)	L100*	probably null	Het
Eif4g3	G	T	4: 137,853,769 (GRCm39)	R618L	probably benign	Het
F5	C	T	1: 164,036,598 (GRCm39)	P1920S	probably benign	Het
Fam187b	T	A	7: 30,677,170 (GRCm39)	N226K	probably benign	Het
Fancc	C	A	13: 63,479,637 (GRCm39)		probably benign	Het
Fastk	G	T	5: 24,648,117 (GRCm39)	P233H	probably damaging	Het
Fbn1	A	C	2: 125,148,420 (GRCm39)	D2609E	probably benign	Het
Fes	G	A	7: 80,036,959 (GRCm39)	R42W	probably damaging	Het
Fmnl2	T	A	2: 52,993,728 (GRCm39)	N374K	possibly damaging	Het
Fpgt	G	A	3: 154,792,333 (GRCm39)	Q565*	probably null	Het
Gckr	A	G	5: 31,465,141 (GRCm39)	D370G	probably damaging	Het
Ggt6	T	C	11: 72,328,769 (GRCm39)	M385T	probably benign	Het
Gm26657	C	A	4: 56,741,114 (GRCm39)	H100N	probably benign	Het
Gsg1l	T	A	7: 125,557,721 (GRCm39)	I136F	probably damaging	Het
Hhip	C	T	8: 80,724,192 (GRCm39)	R350Q	probably damaging	Het
Ints1	C	T	5: 139,745,599 (GRCm39)	S1353N	probably benign	Het
Ints10	G	A	8: 69,263,271 (GRCm39)	R394Q	probably damaging	Het
Ints6	T	G	14: 62,940,678 (GRCm39)	R557S	probably damaging	Het
Ints9	T	A	14: 65,269,729 (GRCm39)	I473N	possibly damaging	Het
Itih4	G	A	14: 30,623,626 (GRCm39)	G915R	probably damaging	Het
Kif1a	C	A	1: 92,952,368 (GRCm39)	A1304S	possibly damaging	Het
Kif21b	C	T	1: 136,075,924 (GRCm39)		probably benign	Het
Klk13	C	A	7: 43,363,284 (GRCm39)	C10*	probably null	Het
Krtap4-8	C	T	11: 99,671,321 (GRCm39)		probably benign	Het
Lef1	T	C	3: 130,978,382 (GRCm39)	S167P	probably benign	Het
Leng8	T	A	7: 4,147,796 (GRCm39)	I607N	probably damaging	Het
Lrch4	T	A	5: 137,637,408 (GRCm39)	L526*	probably null	Het
Memo1	G	A	17: 74,565,456 (GRCm39)	Q36*	probably null	Het
Nod1	C	A	6: 54,920,741 (GRCm39)	A526S	probably damaging	Het
Nostrin	G	A	2: 69,014,243 (GRCm39)	V400M	possibly damaging	Het
Nrip1	T	C	16: 76,089,920 (GRCm39)	T546A	probably benign	Het
Nxf1	A	G	19: 8,740,127 (GRCm39)	D98G	probably benign	Het
Or13a24	A	G	7: 140,154,554 (GRCm39)	M163V	probably benign	Het
Or1l4	T	A	2: 37,092,094 (GRCm39)	Y280*	probably null	Het
Or2h2b-ps1	A	T	17: 37,481,173 (GRCm39)	V20E	probably damaging	Het
Or2t1	A	G	14: 14,328,887 (GRCm38)	M259V	probably benign	Het
Or4c114	G	T	2: 88,904,656 (GRCm39)	P260T	probably benign	Het
Or6aa1	A	T	7: 86,043,718 (GRCm39)		probably null	Het
Osgep	T	C	14: 51,155,378 (GRCm39)	Y60C	probably damaging	Het
P2ry6	A	G	7: 100,587,511 (GRCm39)	Y283H	probably damaging	Het
Pcdha7	A	T	18: 37,108,870 (GRCm39)	S632C	possibly damaging	Het
Pms1	T	A	1: 53,234,097 (GRCm39)	R806S	possibly damaging	Het
Qars1	T	A	9: 108,386,625 (GRCm39)		probably null	Het
Rxfp1	T	C	3: 79,594,196 (GRCm39)	N66S	probably damaging	Het
Slc12a5	A	T	2: 164,815,685 (GRCm39)	N67I	probably damaging	Het
Slc1a4	G	T	11: 20,254,348 (GRCm39)	T506K	probably damaging	Het
Stimate	C	A	14: 30,594,490 (GRCm39)		probably benign	Het
Tlr9	T	A	9: 106,102,173 (GRCm39)	I488N	probably damaging	Het
Tmem74	G	T	15: 43,730,554 (GRCm39)	T163K	probably damaging	Het
Uba2	T	C	7: 33,854,021 (GRCm39)	D307G	probably damaging	Het
Uty	C	T	Y: 1,131,134 (GRCm39)	R924Q	probably damaging	Het
Wdr7	C	T	18: 63,910,651 (GRCm39)	T681I	probably benign	Het
Xab2	A	G	8: 3,668,105 (GRCm39)	S158P	probably benign	Het
Ythdc1	T	C	5: 86,970,667 (GRCm39)	S418P	probably damaging	Het
Zfand4	T	A	6: 116,305,195 (GRCm39)	C207*	probably null	Het
Zfp367	C	T	13: 64,283,238 (GRCm39)	D305N	probably damaging	Het
Zfp804b	C	T	5: 6,822,584 (GRCm39)	V160I	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
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
R6592:Acss3	UTSW	10	106,859,579 (GRCm39)	missense	possibly damaging	0.94
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'- GTACGACTGTCTTGAAAGCAAATAC -3'
(R):5'- GAAAGCTCTGTTAAAGGTTGAGTG -3'

Sequencing Primer
(F):5'- CCATTGTATCCTGGAACACA -3'
(R):5'- TTCAACACTGACCATAGCTTTAAGC -3'

Posted On

2015-10-08