Incidental Mutation 'R0418:Acss3'
ID 36884
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 038620-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R0418 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 106769378-106959529 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106859773 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 311 (Y311C)
Ref Sequence ENSEMBL: ENSMUSP00000128209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044668] [ENSMUST00000165067]
AlphaFold Q14DH7
Predicted Effect probably damaging
Transcript: ENSMUST00000044668
AA Change: Y311C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040823
Gene: ENSMUSG00000035948
AA Change: Y311C

DomainStartEndE-ValueType
Pfam:AMP-binding 112 496 4.6e-67 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000165067
AA Change: Y311C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128209
Gene: ENSMUSG00000035948
AA Change: Y311C

DomainStartEndE-ValueType
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 0.5705 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.2%
Validation Efficiency 98% (64/65)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930018P22Rik G T 2: 103,953,675 (GRCm39) probably null Het
Abca14 T C 7: 119,806,657 (GRCm39) L19P probably damaging Het
Abcb1a T A 5: 8,763,281 (GRCm39) V603E probably damaging Het
Acsl5 A G 19: 55,261,238 (GRCm39) D65G probably benign Het
Ak8 T G 2: 28,623,868 (GRCm39) I151S possibly damaging Het
Aldh1a1 T C 19: 20,606,413 (GRCm39) probably benign Het
Aldh1l1 A G 6: 90,546,875 (GRCm39) R393G possibly damaging Het
Ankhd1 T A 18: 36,767,353 (GRCm39) L1164Q probably damaging Het
Ascc3 G T 10: 50,625,022 (GRCm39) V1637L probably benign Het
Atf5 A G 7: 44,462,821 (GRCm39) M101T possibly damaging Het
Det1 T C 7: 78,493,765 (GRCm39) T80A probably benign Het
Dpp9 C T 17: 56,501,404 (GRCm39) probably benign Het
Fam13c A G 10: 70,370,591 (GRCm39) R244G probably damaging Het
Fat3 A T 9: 16,158,192 (GRCm39) N1139K probably damaging Het
Fbxo17 A G 7: 28,432,916 (GRCm39) T146A possibly damaging Het
Fli1 T C 9: 32,363,425 (GRCm39) probably benign Het
Glb1l2 T G 9: 26,705,397 (GRCm39) D151A probably damaging Het
Gli2 G A 1: 118,768,220 (GRCm39) T669I possibly damaging Het
Igsf3 C A 3: 101,342,751 (GRCm39) R463S probably damaging Het
Il1rl2 T C 1: 40,365,662 (GRCm39) V3A unknown Het
Irx3 G A 8: 92,526,708 (GRCm39) S332F probably benign Het
Katnb1 C T 8: 95,822,286 (GRCm39) T303M possibly damaging Het
Lrrc31 A T 3: 30,743,383 (GRCm39) L194Q probably damaging Het
Lrrc37a T G 11: 103,394,264 (GRCm39) E387A probably benign Het
Mapk14 T C 17: 28,910,763 (GRCm39) I17T probably benign Het
Mtif2 A G 11: 29,483,401 (GRCm39) probably benign Het
Myo16 A G 8: 10,619,918 (GRCm39) T1490A probably benign Het
Nfasc A G 1: 132,539,333 (GRCm39) V399A probably damaging Het
Nhsl3 A G 4: 129,117,477 (GRCm39) S396P probably damaging Het
Nobox T C 6: 43,284,169 (GRCm39) K1E probably null Het
Nr2c1 A T 10: 94,017,374 (GRCm39) M371L probably benign Het
Oplah C T 15: 76,182,687 (GRCm39) R924H probably benign Het
Or10ak16 C T 4: 118,750,448 (GRCm39) T56I possibly damaging Het
Or51a10 G A 7: 103,698,979 (GRCm39) T194I probably benign Het
Pappa2 C A 1: 158,544,560 (GRCm39) C1756F probably damaging Het
Pdzd8 G A 19: 59,289,361 (GRCm39) R680C probably damaging Het
Rassf3 G A 10: 121,253,075 (GRCm39) T44M probably benign Het
Rmnd1 T C 10: 4,377,693 (GRCm39) probably null Het
Rnf126 C T 10: 79,598,477 (GRCm39) probably benign Het
Rnf144b T C 13: 47,397,966 (GRCm39) S299P probably benign Het
Ryr2 A G 13: 11,848,981 (GRCm39) probably benign Het
Scel T A 14: 103,840,690 (GRCm39) S511T probably benign Het
Slc16a10 G T 10: 39,916,627 (GRCm39) S138* probably null Het
Slc36a4 A T 9: 15,645,562 (GRCm39) I330F probably damaging Het
Slc5a8 A G 10: 88,722,420 (GRCm39) I84M probably benign Het
Spag9 T C 11: 93,982,579 (GRCm39) probably benign Het
Suco C T 1: 161,662,419 (GRCm39) V671I probably benign Het
Suox G A 10: 128,506,754 (GRCm39) P425S probably damaging Het
Tmem266 T A 9: 55,344,697 (GRCm39) V443E probably benign Het
Tmprss11f A T 5: 86,704,870 (GRCm39) I16N probably benign Het
Tnik T A 3: 28,625,029 (GRCm39) Y321* probably null Het
Tnrc6b T C 15: 80,797,524 (GRCm39) M1357T probably benign Het
Tpbg C A 9: 85,726,803 (GRCm39) Y257* probably null Het
Usp37 A T 1: 74,529,266 (GRCm39) S138T probably benign Het
Veph1 T A 3: 66,162,449 (GRCm39) R70* probably null Het
Vmn2r17 C T 5: 109,600,747 (GRCm39) P682S probably damaging Het
Vmn2r79 A C 7: 86,651,611 (GRCm39) N337H probably benign Het
Vstm2b A G 7: 40,551,876 (GRCm39) D68G probably damaging Het
Vwa7 G T 17: 35,236,933 (GRCm39) A167S possibly damaging Het
Zfp647 A T 15: 76,795,586 (GRCm39) I358N probably damaging Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign Het
Other mutations in Acss3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CCAGCCTAAGTCAGAAGCTGCC -3'
(R):5'- TGTTCCGTGTGATTTCCACTTAGCG -3'

Sequencing Primer
(F):5'- TCAGAAGCTGCCCACCATAC -3'
(R):5'- CACAGCATATTGTCATCATCATAGGG -3'
Posted On 2013-05-09