Incidental Mutation 'R1625:Acss3'
ID 174979
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 039662-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R1625 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 106769378-106959529 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 106773263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029404] [ENSMUST00000165067] [ENSMUST00000165067] [ENSMUST00000217854]
AlphaFold Q14DH7
Predicted Effect probably benign
Transcript: ENSMUST00000029404
SMART Domains Protein: ENSMUSP00000029404
Gene: ENSMUSG00000053825

DomainStartEndE-ValueType
low complexity region 16 29 N/A INTRINSIC
coiled coil region 32 80 N/A INTRINSIC
coiled coil region 102 150 N/A INTRINSIC
coiled coil region 189 234 N/A INTRINSIC
coiled coil region 267 541 N/A INTRINSIC
low complexity region 576 587 N/A INTRINSIC
low complexity region 616 631 N/A INTRINSIC
coiled coil region 643 691 N/A INTRINSIC
low complexity region 702 725 N/A INTRINSIC
SAM 895 964 6.27e-10 SMART
low complexity region 965 977 N/A INTRINSIC
SAM 1017 1084 1.69e-6 SMART
SAM 1105 1177 6.62e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000165067
SMART Domains Protein: ENSMUSP00000128209
Gene: ENSMUSG00000035948

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
Predicted Effect probably null
Transcript: ENSMUST00000165067
SMART Domains Protein: ENSMUSP00000128209
Gene: ENSMUSG00000035948

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
Predicted Effect probably benign
Transcript: ENSMUST00000217854
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219024
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.3%
  • 20x: 89.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,857,947 (GRCm39) M605L probably benign Het
Abcc5 A T 16: 20,184,567 (GRCm39) S1031T probably damaging Het
Acot7 T A 4: 152,270,748 (GRCm39) C31S probably benign Het
Adipor1 T C 1: 134,351,802 (GRCm39) F83S possibly damaging Het
Agrn G A 4: 156,257,317 (GRCm39) S1171L probably damaging Het
Aoc1l1 T A 6: 48,952,105 (GRCm39) L10Q probably damaging Het
Arhgap5 T A 12: 52,564,159 (GRCm39) C377S probably benign Het
Arid4b T A 13: 14,361,699 (GRCm39) V721D probably damaging Het
Aspm G A 1: 139,408,777 (GRCm39) A2555T probably benign Het
Atp6v0a1 T A 11: 100,946,380 (GRCm39) L791Q probably damaging Het
Car11 A G 7: 45,350,731 (GRCm39) K76E probably benign Het
Casp8ap2 T A 4: 32,648,068 (GRCm39) M1925K probably benign Het
Cc2d1a A T 8: 84,866,001 (GRCm39) L418Q probably damaging Het
Ccl9 G A 11: 83,466,736 (GRCm39) R64W probably damaging Het
Cfap20dc A G 14: 8,431,668 (GRCm38) Y655H probably damaging Het
Cfap43 T A 19: 47,739,527 (GRCm39) K1325N probably damaging Het
Dars2 G A 1: 160,881,614 (GRCm39) P305L possibly damaging Het
Ddx11 C T 17: 66,457,692 (GRCm39) T859I probably benign Het
Dock7 C T 4: 98,850,433 (GRCm39) probably null Het
Efcab6 A G 15: 83,831,839 (GRCm39) V570A probably benign Het
Fermt1 T A 2: 132,764,751 (GRCm39) I369F probably damaging Het
Fras1 A G 5: 96,861,849 (GRCm39) Y2161C probably damaging Het
Fras1 C A 5: 96,857,837 (GRCm39) P2044T possibly damaging Het
Gucy1a1 T C 3: 82,009,362 (GRCm39) I549V probably benign Het
Hspg2 G A 4: 137,246,282 (GRCm39) S1020N probably benign Het
Kif21a A G 15: 90,826,378 (GRCm39) S1360P probably damaging Het
Lrp3 T C 7: 34,903,350 (GRCm39) Y332C probably damaging Het
Ltc4s C A 11: 50,128,215 (GRCm39) A32S possibly damaging Het
Mgrn1 T C 16: 4,728,627 (GRCm39) L84P probably damaging Het
Muc2 C G 7: 141,283,405 (GRCm39) C672W probably damaging Het
Mvp A T 7: 126,600,845 (GRCm39) V52E probably damaging Het
Ndrg2 T C 14: 52,144,420 (GRCm39) T269A probably damaging Het
Notch2 T A 3: 98,018,891 (GRCm39) D684E probably damaging Het
Nup205 A G 6: 35,168,878 (GRCm39) D316G probably benign Het
Or12e7 T A 2: 87,288,016 (GRCm39) I169K probably damaging Het
Or2v2 T C 11: 49,004,071 (GRCm39) M161V probably benign Het
Or7d11 A G 9: 19,966,678 (GRCm39) L27P probably damaging Het
Pcsk1 A T 13: 75,274,971 (GRCm39) D520V probably benign Het
Pik3cg A T 12: 32,244,741 (GRCm39) D904E probably damaging Het
Pitpnm2 T A 5: 124,271,496 (GRCm39) D359V probably benign Het
Ppih T C 4: 119,175,779 (GRCm39) I69V probably damaging Het
Rab11fip3 T C 17: 26,287,865 (GRCm39) E96G possibly damaging Het
Retreg3 C A 11: 100,992,875 (GRCm39) M1I probably null Het
Rfpl4 C T 7: 5,118,409 (GRCm39) V54I possibly damaging Het
Rif1 T C 2: 51,993,652 (GRCm39) I855T probably benign Het
Rrm1 T A 7: 102,117,554 (GRCm39) I748N probably damaging Het
Sap130 T A 18: 31,807,517 (GRCm39) N441K probably damaging Het
Sf3b1 T A 1: 55,058,536 (GRCm39) I18F probably damaging Het
Skor2 A G 18: 76,946,499 (GRCm39) N74D unknown Het
Slc17a6 C A 7: 51,311,208 (GRCm39) F307L probably benign Het
Slc25a13 G A 6: 6,096,675 (GRCm39) L410F probably damaging Het
Slc47a1 A T 11: 61,262,625 (GRCm39) V38E probably damaging Het
Slc8a1 T A 17: 81,956,670 (GRCm39) T123S probably damaging Het
Slc9a5 C A 8: 106,094,755 (GRCm39) T782K possibly damaging Het
Spmip7 C A 11: 11,438,644 (GRCm39) probably benign Het
Sppl2c C A 11: 104,077,995 (GRCm39) T265K probably damaging Het
Srfbp1 A G 18: 52,621,788 (GRCm39) K283R probably benign Het
Ssr1 C T 13: 38,173,479 (GRCm39) probably null Het
Stard3nl T C 13: 19,556,754 (GRCm39) probably null Het
Timeless G T 10: 128,076,493 (GRCm39) S134I probably damaging Het
Tll1 A G 8: 64,494,476 (GRCm39) F760L probably damaging Het
Tspear A G 10: 77,706,333 (GRCm39) I368V probably benign Het
Txnrd2 G T 16: 18,257,116 (GRCm39) W144L probably damaging Het
Unc5d T C 8: 29,173,234 (GRCm39) E668G probably damaging Het
Urb1 C T 16: 90,570,936 (GRCm39) probably null Het
Uts2r A G 11: 121,052,033 (GRCm39) Y299C probably damaging Het
Vmn1r66 G T 7: 10,008,316 (GRCm39) T239K probably benign Het
Vps39 C T 2: 120,154,106 (GRCm39) V630M probably damaging Het
Wrn T C 8: 33,819,158 (GRCm39) T22A probably benign Het
Zfp7 T A 15: 76,765,374 (GRCm39) D22E probably damaging 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
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
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'- GGGTAACTGTTTGACGAAAACCGC -3'
(R):5'- CACCTCAGATGCTGTGACATGAACC -3'

Sequencing Primer
(F):5'- CTGATGCATTTACGTCTAGGGAG -3'
(R):5'- GAATTTCTGGACAGCAGCTC -3'
Posted On 2014-04-24