Incidental Mutation 'R5797:Acsf2'
ID 501528
Institutional Source Beutler Lab
Gene Symbol Acsf2
Ensembl Gene ENSMUSG00000076435
Gene Name acyl-CoA synthetase family member 2
Synonyms
MMRRC Submission 043209-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5797 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 94447928-94492697 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94462505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 170 (V170A)
Ref Sequence ENSEMBL: ENSMUSP00000099453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040418] [ENSMUST00000103164]
AlphaFold Q8VCW8
Predicted Effect probably benign
Transcript: ENSMUST00000040418
SMART Domains Protein: ENSMUSP00000047844
Gene: ENSMUSG00000039084

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
LRRNT 21 54 1.7e-7 SMART
LRR_TYP 73 96 9.58e-3 SMART
LRR_TYP 97 120 1.45e-2 SMART
LRR_TYP 121 144 1.69e-3 SMART
LRR_TYP 145 168 6.42e-4 SMART
LRR 170 192 2.2e1 SMART
LRR 193 216 2.14e1 SMART
LRR_TYP 217 240 4.17e-3 SMART
LRR 245 265 2.27e2 SMART
LRR 266 289 3.36e1 SMART
LRRCT 299 346 1.1e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000103164
AA Change: V170A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099453
Gene: ENSMUSG00000076435
AA Change: V170A

DomainStartEndE-ValueType
Pfam:AMP-binding 78 516 3.9e-100 PFAM
Pfam:AMP-binding_C 524 599 1.7e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155122
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T C 3: 40,887,986 (GRCm39) F277L probably benign Het
Amz2 G T 11: 109,317,905 (GRCm39) probably benign Het
Atp4a A G 7: 30,412,074 (GRCm39) Y65C probably damaging Het
Canx T C 11: 50,191,844 (GRCm39) I356V probably benign Het
Cfap54 T A 10: 92,803,438 (GRCm39) T1535S probably benign Het
Cts3 A T 13: 61,716,206 (GRCm39) W52R probably damaging Het
Cyb5rl A T 4: 106,941,404 (GRCm39) E276D possibly damaging Het
Dhx30 T C 9: 109,927,888 (GRCm39) N78S probably damaging Het
Dmap1 A T 4: 117,532,677 (GRCm39) V333E possibly damaging Het
Dnah10 A G 5: 124,898,450 (GRCm39) E3744G probably benign Het
Efcab6 C T 15: 83,808,478 (GRCm39) C828Y possibly damaging Het
Fam227b A C 2: 125,849,254 (GRCm39) I326S probably benign Het
Fbrs C A 7: 127,086,463 (GRCm39) H604Q probably damaging Het
Fshr T G 17: 89,318,503 (GRCm39) N129T probably damaging Het
Gja3 T C 14: 57,273,170 (GRCm39) R401G probably damaging Het
Gm572 G A 4: 148,751,255 (GRCm39) M209I probably benign Het
Gne G A 4: 44,060,030 (GRCm39) T121M probably damaging Het
Gnmt T C 17: 47,037,305 (GRCm39) N160D probably damaging Het
Kalrn T C 16: 34,032,619 (GRCm39) Y1125C probably damaging Het
Kif2a A T 13: 107,111,884 (GRCm39) C524S probably damaging Het
Kl A G 5: 150,915,003 (GRCm39) N910S possibly damaging Het
Lrrtm2 C T 18: 35,346,759 (GRCm39) R181H probably damaging Het
Mkln1 A G 6: 31,410,004 (GRCm39) D214G probably benign Het
Muc5b C A 7: 141,405,319 (GRCm39) T909N unknown Het
Myh13 T A 11: 67,225,828 (GRCm39) D335E possibly damaging Het
Myo5b A G 18: 74,834,592 (GRCm39) E884G probably benign Het
Naip1 T C 13: 100,581,034 (GRCm39) D71G possibly damaging Het
Nxpe4 T A 9: 48,307,838 (GRCm39) I314N possibly damaging Het
Pcnt T C 10: 76,228,590 (GRCm39) E1525G probably benign Het
Pkd1 T A 17: 24,811,615 (GRCm39) H153Q possibly damaging Het
Prkdc T A 16: 15,555,698 (GRCm39) Y2157* probably null Het
Scd3 T C 19: 44,203,950 (GRCm39) I46T probably benign Het
Sdha A T 13: 74,482,476 (GRCm39) M279K probably damaging Het
Slco4c1 A G 1: 96,746,829 (GRCm39) V671A probably benign Het
Slitrk3 T A 3: 72,955,962 (GRCm39) T937S probably damaging Het
Sncaip A T 18: 53,031,276 (GRCm39) T442S probably benign Het
Sptb T C 12: 76,650,473 (GRCm39) D1748G possibly damaging Het
Trmt9b A T 8: 36,965,569 (GRCm39) K30* probably null Het
Vmn2r12 A T 5: 109,233,736 (GRCm39) C825* probably null Het
Other mutations in Acsf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Acsf2 APN 11 94,461,276 (GRCm39) missense probably benign 0.00
IGL02218:Acsf2 APN 11 94,492,589 (GRCm39) missense probably benign 0.00
IGL02602:Acsf2 APN 11 94,461,291 (GRCm39) splice site probably benign
Citrus UTSW 11 94,462,476 (GRCm39) missense probably benign 0.11
Cocktail UTSW 11 94,461,211 (GRCm39) missense probably benign 0.06
limonene UTSW 11 94,453,714 (GRCm39) missense probably damaging 0.99
R0047:Acsf2 UTSW 11 94,460,168 (GRCm39) missense probably benign 0.01
R0194:Acsf2 UTSW 11 94,452,196 (GRCm39) missense probably benign 0.00
R1400:Acsf2 UTSW 11 94,461,142 (GRCm39) missense probably benign 0.07
R1403:Acsf2 UTSW 11 94,453,700 (GRCm39) missense probably benign 0.11
R1403:Acsf2 UTSW 11 94,453,700 (GRCm39) missense probably benign 0.11
R1512:Acsf2 UTSW 11 94,452,224 (GRCm39) splice site probably benign
R2007:Acsf2 UTSW 11 94,462,466 (GRCm39) missense possibly damaging 0.88
R2271:Acsf2 UTSW 11 94,449,699 (GRCm39) nonsense probably null
R3610:Acsf2 UTSW 11 94,452,172 (GRCm39) missense probably benign 0.00
R4447:Acsf2 UTSW 11 94,460,185 (GRCm39) missense possibly damaging 0.68
R4717:Acsf2 UTSW 11 94,450,372 (GRCm39) missense probably benign 0.02
R4857:Acsf2 UTSW 11 94,460,164 (GRCm39) missense probably benign 0.07
R4974:Acsf2 UTSW 11 94,460,155 (GRCm39) missense possibly damaging 0.77
R5090:Acsf2 UTSW 11 94,462,095 (GRCm39) critical splice donor site probably null
R5185:Acsf2 UTSW 11 94,453,737 (GRCm39) missense probably damaging 1.00
R5732:Acsf2 UTSW 11 94,460,768 (GRCm39) unclassified probably benign
R5872:Acsf2 UTSW 11 94,463,975 (GRCm39) missense probably benign 0.16
R6350:Acsf2 UTSW 11 94,449,156 (GRCm39) missense probably benign 0.12
R6903:Acsf2 UTSW 11 94,450,417 (GRCm39) missense probably benign 0.03
R6912:Acsf2 UTSW 11 94,461,206 (GRCm39) missense probably benign
R7336:Acsf2 UTSW 11 94,462,476 (GRCm39) missense probably benign 0.11
R7531:Acsf2 UTSW 11 94,464,057 (GRCm39) splice site probably null
R8026:Acsf2 UTSW 11 94,453,714 (GRCm39) missense probably damaging 0.99
R8231:Acsf2 UTSW 11 94,452,188 (GRCm39) missense probably benign 0.01
R8355:Acsf2 UTSW 11 94,461,450 (GRCm39) missense probably benign 0.00
R8486:Acsf2 UTSW 11 94,460,786 (GRCm39) missense probably damaging 0.98
R8525:Acsf2 UTSW 11 94,463,446 (GRCm39) missense probably benign 0.21
R8956:Acsf2 UTSW 11 94,461,211 (GRCm39) missense probably benign 0.06
R9288:Acsf2 UTSW 11 94,464,044 (GRCm39) missense probably benign 0.04
R9481:Acsf2 UTSW 11 94,464,044 (GRCm39) missense probably benign 0.04
R9564:Acsf2 UTSW 11 94,463,891 (GRCm39) missense possibly damaging 0.88
R9620:Acsf2 UTSW 11 94,463,412 (GRCm39) nonsense probably null
R9671:Acsf2 UTSW 11 94,460,802 (GRCm39) missense probably benign 0.27
R9742:Acsf2 UTSW 11 94,463,963 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- CAGCTCCACCTTTGTAGGAG -3'
(R):5'- GGTATACATGACTGCATTAGAGGC -3'

Sequencing Primer
(F):5'- CCACCTTTGTAGGAGGTAAGAGTC -3'
(R):5'- TGCATTAGAGGCAGTGGTG -3'
Posted On 2017-12-01