Incidental Mutation 'R1600:Acot3'
ID 176104
Institutional Source Beutler Lab
Gene Symbol Acot3
Ensembl Gene ENSMUSG00000021228
Gene Name acyl-CoA thioesterase 3
Synonyms PTE-Ia, Pte2a
MMRRC Submission 039637-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R1600 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 84098918-84107174 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 84105484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 317 (A317V)
Ref Sequence ENSEMBL: ENSMUSP00000112678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021653] [ENSMUST00000120927] [ENSMUST00000223080]
AlphaFold Q9QYR7
Predicted Effect probably benign
Transcript: ENSMUST00000021653
AA Change: A328V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000021653
Gene: ENSMUSG00000021228
AA Change: A328V

DomainStartEndE-ValueType
Pfam:Bile_Hydr_Trans 27 152 7.3e-47 PFAM
low complexity region 158 172 N/A INTRINSIC
Pfam:BAAT_C 214 423 3.7e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120927
AA Change: A317V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000112678
Gene: ENSMUSG00000021228
AA Change: A317V

DomainStartEndE-ValueType
Pfam:Bile_Hydr_Trans 15 142 1.9e-39 PFAM
low complexity region 147 161 N/A INTRINSIC
Pfam:BAAT_C 203 412 1.7e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180751
Predicted Effect probably benign
Transcript: ENSMUST00000221229
Predicted Effect probably benign
Transcript: ENSMUST00000223080
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 85% (41/48)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 T C 14: 54,881,174 (GRCm39) probably benign Het
Ahrr T C 13: 74,362,497 (GRCm39) D334G probably benign Het
Alpk2 C T 18: 65,511,108 (GRCm39) V30M probably damaging Het
Arhgef25 G T 10: 127,021,158 (GRCm39) H281N probably damaging Het
B3gntl1 A G 11: 121,521,662 (GRCm39) M175T probably damaging Het
Brca2 T A 5: 150,484,295 (GRCm39) probably benign Het
Ccnj A T 19: 40,833,101 (GRCm39) probably benign Het
Cebpzos A G 17: 79,225,817 (GRCm39) K11E probably damaging Het
Col6a6 A G 9: 105,655,274 (GRCm39) S816P probably damaging Het
Cul4a A G 8: 13,173,954 (GRCm39) R64G probably damaging Het
Cul7 C A 17: 46,962,748 (GRCm39) C126* probably null Het
Ercc2 T C 7: 19,119,866 (GRCm39) Y176H probably benign Het
Frem2 T G 3: 53,455,144 (GRCm39) D2144A probably damaging Het
Gabrg3 A T 7: 56,384,822 (GRCm39) Y246* probably null Het
Gpatch2l T C 12: 86,303,708 (GRCm39) probably null Het
Grk1 A G 8: 13,455,406 (GRCm39) T97A probably benign Het
Hmcn2 A G 2: 31,320,799 (GRCm39) E4004G probably damaging Het
Kcnu1 A T 8: 26,339,821 (GRCm39) R46S probably damaging Het
Lrrfip1 T C 1: 91,042,389 (GRCm39) S265P probably damaging Het
Lyve1 A G 7: 110,452,902 (GRCm39) probably null Het
Mme A G 3: 63,272,479 (GRCm39) Y659C probably damaging Het
Mrs2 G T 13: 25,179,393 (GRCm39) N299K possibly damaging Het
Mtnr1b T C 9: 15,774,615 (GRCm39) Y148C probably damaging Het
Myo5b T A 18: 74,846,611 (GRCm39) probably benign Het
Neb A G 2: 52,161,616 (GRCm39) Y2059H probably damaging Het
Nkain3 T C 4: 20,469,528 (GRCm39) probably benign Het
Peg10 A T 6: 4,757,080 (GRCm39) probably benign Het
Pramel20 A G 4: 143,298,537 (GRCm39) E160G possibly damaging Het
Rufy2 A G 10: 62,842,450 (GRCm39) T458A probably benign Het
Sec14l1 G A 11: 117,041,430 (GRCm39) V448I probably benign Het
Tbx19 C T 1: 164,970,136 (GRCm39) G251D possibly damaging Het
Tcstv7b T C 13: 120,702,369 (GRCm39) V55A probably benign Het
Trappc9 G A 15: 72,808,958 (GRCm39) Q711* probably null Het
Trpm3 A G 19: 22,116,519 (GRCm39) R13G probably benign Het
Usp33 G T 3: 152,085,247 (GRCm39) A628S probably damaging Het
Vps13a T C 19: 16,643,636 (GRCm39) N2080S probably benign Het
Wdr45b A T 11: 121,221,015 (GRCm39) I221N probably damaging Het
Zfp119a A T 17: 56,175,355 (GRCm39) W47R possibly damaging Het
Zswim9 A G 7: 13,003,497 (GRCm39) C118R probably damaging Het
Other mutations in Acot3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Acot3 APN 12 84,103,863 (GRCm39) missense probably benign 0.11
IGL02299:Acot3 APN 12 84,105,585 (GRCm39) nonsense probably null
IGL03407:Acot3 APN 12 84,105,415 (GRCm39) missense probably damaging 0.99
R0557:Acot3 UTSW 12 84,105,630 (GRCm39) missense probably damaging 1.00
R1388:Acot3 UTSW 12 84,105,761 (GRCm39) missense possibly damaging 0.82
R1711:Acot3 UTSW 12 84,100,347 (GRCm39) missense probably damaging 1.00
R1718:Acot3 UTSW 12 84,100,717 (GRCm39) critical splice donor site probably null
R1939:Acot3 UTSW 12 84,105,325 (GRCm39) missense probably benign
R2073:Acot3 UTSW 12 84,100,230 (GRCm39) missense possibly damaging 0.53
R2424:Acot3 UTSW 12 84,100,638 (GRCm39) missense probably damaging 0.98
R4688:Acot3 UTSW 12 84,100,691 (GRCm39) missense probably damaging 0.97
R4739:Acot3 UTSW 12 84,105,364 (GRCm39) missense probably benign 0.00
R5633:Acot3 UTSW 12 84,105,724 (GRCm39) splice site probably null
R6008:Acot3 UTSW 12 84,103,860 (GRCm39) missense probably damaging 1.00
R6746:Acot3 UTSW 12 84,100,248 (GRCm39) missense probably benign
R7017:Acot3 UTSW 12 84,100,077 (GRCm39) start gained probably benign
R8377:Acot3 UTSW 12 84,105,561 (GRCm39) nonsense probably null
R9345:Acot3 UTSW 12 84,103,866 (GRCm39) missense probably benign 0.21
R9684:Acot3 UTSW 12 84,105,650 (GRCm39) missense probably benign 0.16
X0066:Acot3 UTSW 12 84,103,812 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTCAGGTAACAGGTTCAGGAGTCG -3'
(R):5'- GTTCAGGGAAGCCTTACACAGTGG -3'

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