Incidental Mutation 'R6582:Acsm3'
ID 524154
Institutional Source Beutler Lab
Gene Symbol Acsm3
Ensembl Gene ENSMUSG00000030935
Gene Name acyl-CoA synthetase medium-chain family member 3
Synonyms Sah, Sa
MMRRC Submission 044706-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6582 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 119360106-119384119 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119378896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 426 (E426G)
Ref Sequence ENSEMBL: ENSMUSP00000102139 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033224] [ENSMUST00000063770] [ENSMUST00000063902] [ENSMUST00000106523] [ENSMUST00000106526] [ENSMUST00000106527] [ENSMUST00000106529] [ENSMUST00000106528] [ENSMUST00000150844] [ENSMUST00000139192]
AlphaFold Q3UNX5
Predicted Effect probably benign
Transcript: ENSMUST00000033224
Predicted Effect probably benign
Transcript: ENSMUST00000063770
AA Change: E426G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000068803
Gene: ENSMUSG00000030935
AA Change: E426G

DomainStartEndE-ValueType
Pfam:AMP-binding 65 478 3.7e-86 PFAM
Pfam:AMP-binding_C 486 566 1.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000063902
SMART Domains Protein: ENSMUSP00000068633
Gene: ENSMUSG00000030929

DomainStartEndE-ValueType
EXOIII 36 235 1.41e-13 SMART
transmembrane domain 245 262 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106523
SMART Domains Protein: ENSMUSP00000102133
Gene: ENSMUSG00000030929

DomainStartEndE-ValueType
EXOIII 36 235 1.41e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106526
AA Change: E426G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102136
Gene: ENSMUSG00000030935
AA Change: E426G

DomainStartEndE-ValueType
Pfam:AMP-binding 65 478 3.7e-86 PFAM
Pfam:AMP-binding_C 486 566 1.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106527
AA Change: E426G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102137
Gene: ENSMUSG00000030935
AA Change: E426G

DomainStartEndE-ValueType
Pfam:AMP-binding 65 478 3.7e-86 PFAM
Pfam:AMP-binding_C 486 566 1.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106529
AA Change: E426G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102139
Gene: ENSMUSG00000030935
AA Change: E426G

DomainStartEndE-ValueType
Pfam:AMP-binding 65 478 1.1e-78 PFAM
Pfam:AMP-binding_C 486 566 9.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106528
AA Change: E426G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102138
Gene: ENSMUSG00000030935
AA Change: E426G

DomainStartEndE-ValueType
Pfam:AMP-binding 65 478 3.7e-86 PFAM
Pfam:AMP-binding_C 486 566 1.8e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154828
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125595
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149766
Predicted Effect probably benign
Transcript: ENSMUST00000150844
SMART Domains Protein: ENSMUSP00000120547
Gene: ENSMUSG00000030929

DomainStartEndE-ValueType
EXOIII 36 235 1.41e-13 SMART
low complexity region 362 381 N/A INTRINSIC
Pfam:zf-GRF 592 640 1.4e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139192
SMART Domains Protein: ENSMUSP00000117940
Gene: ENSMUSG00000030929

DomainStartEndE-ValueType
Pfam:RNase_T 21 160 1.2e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149598
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 100% (40/40)
MGI Phenotype PHENOTYPE: Homozygous null mice are viable and fertile with normal kidney function and morphology and blood pressure similar to wild-type on either a regular or high salt diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,297,384 (GRCm39) T2369A probably benign Het
Abhd6 T G 14: 8,042,828 (GRCm38) probably null Het
Abhd6 G T 14: 8,042,826 (GRCm38) G128C probably damaging Het
Ankrd11 T C 8: 123,618,368 (GRCm39) D1828G probably benign Het
Asmt T A X: 169,108,766 (GRCm39) probably null Het
Casp4 A G 9: 5,324,884 (GRCm39) Q232R probably benign Het
Cenpt A T 8: 106,575,833 (GRCm39) L171* probably null Het
Chd3 AGCGGCGGCGGCGGCGGCGG AGCGGCGGCGGCGGCGG 11: 69,259,982 (GRCm39) probably benign Het
Col5a2 G T 1: 45,429,275 (GRCm39) H948N possibly damaging Het
Dnah9 G T 11: 65,951,923 (GRCm39) H1859N probably damaging Het
Dscaml1 G A 9: 45,664,104 (GRCm39) R1993Q probably benign Het
Fbxw8 C A 5: 118,263,028 (GRCm39) R217L probably benign Het
Flnb T G 14: 7,892,275 (GRCm38) probably null Het
Fyb2 A G 4: 104,802,739 (GRCm39) N214D probably benign Het
Gbp2b A G 3: 142,316,801 (GRCm39) E484G possibly damaging Het
Gzmk A G 13: 113,317,045 (GRCm39) Y45H probably damaging Het
Ivl CCTGCTGCTGCTGCT CCTGCTGCTGCT 3: 92,479,217 (GRCm39) probably benign Het
Kcnj6 A G 16: 94,633,685 (GRCm39) V142A possibly damaging Het
Klri2 A T 6: 129,716,096 (GRCm39) I81K possibly damaging Het
Lama3 T A 18: 12,710,897 (GRCm39) V3144E probably damaging Het
Mark1 G A 1: 184,644,786 (GRCm39) S390L possibly damaging Het
Mbd3l1 T C 9: 18,396,024 (GRCm39) Y50H probably benign Het
Mcat T C 15: 83,433,383 (GRCm39) N220S probably benign Het
Muc2 A G 7: 141,282,941 (GRCm39) E81G probably benign Het
Neto1 A T 18: 86,512,985 (GRCm39) K327* probably null Het
Or10j3 G T 1: 173,031,847 (GRCm39) R308L probably benign Het
Or4a67 A T 2: 88,598,587 (GRCm39) L24Q probably damaging Het
Or52p1 A T 7: 104,267,648 (GRCm39) Y254F probably damaging Het
Or52u1 T C 7: 104,237,218 (GRCm39) L69P probably damaging Het
Pidd1 A T 7: 141,019,494 (GRCm39) V722D probably damaging Het
Ppp2r2a G T 14: 67,257,253 (GRCm39) H326N probably damaging Het
Smarca5 G A 8: 81,446,281 (GRCm39) T473I probably damaging Het
Spg11 C A 2: 121,922,773 (GRCm39) W892L probably damaging Het
Tas2r110 T A 6: 132,845,248 (GRCm39) I93N possibly damaging Het
Tiam2 CGGG CGGGG 17: 3,464,897 (GRCm39) probably null Het
Vmn1r71 T A 7: 10,482,608 (GRCm39) I27F probably benign Het
Vsnl1 A G 12: 11,376,489 (GRCm39) V132A probably benign Het
Wdsub1 T C 2: 59,708,652 (GRCm39) T74A probably damaging Het
Ywhaz T C 15: 36,791,166 (GRCm39) Y19C probably damaging Het
Other mutations in Acsm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Acsm3 APN 7 119,383,567 (GRCm39) missense probably damaging 1.00
IGL01434:Acsm3 APN 7 119,380,297 (GRCm39) unclassified probably benign
IGL01446:Acsm3 APN 7 119,377,677 (GRCm39) missense probably damaging 1.00
IGL01800:Acsm3 APN 7 119,373,866 (GRCm39) missense possibly damaging 0.68
IGL01882:Acsm3 APN 7 119,373,858 (GRCm39) missense probably damaging 0.99
IGL01954:Acsm3 APN 7 119,374,306 (GRCm39) splice site probably benign
PIT4677001:Acsm3 UTSW 7 119,374,340 (GRCm39) missense probably damaging 1.00
PIT4696001:Acsm3 UTSW 7 119,384,209 (GRCm39) splice site probably null
R0422:Acsm3 UTSW 7 119,372,963 (GRCm39) nonsense probably null
R0423:Acsm3 UTSW 7 119,376,382 (GRCm39) missense probably damaging 1.00
R0729:Acsm3 UTSW 7 119,383,207 (GRCm39) utr 3 prime probably benign
R0731:Acsm3 UTSW 7 119,367,247 (GRCm39) nonsense probably null
R0732:Acsm3 UTSW 7 119,373,057 (GRCm39) missense probably benign 0.40
R0744:Acsm3 UTSW 7 119,376,323 (GRCm39) missense possibly damaging 0.84
R0836:Acsm3 UTSW 7 119,376,323 (GRCm39) missense possibly damaging 0.84
R1926:Acsm3 UTSW 7 119,376,359 (GRCm39) missense probably damaging 1.00
R2104:Acsm3 UTSW 7 119,383,527 (GRCm39) missense probably benign
R2429:Acsm3 UTSW 7 119,367,223 (GRCm39) missense probably benign
R3940:Acsm3 UTSW 7 119,373,109 (GRCm39) missense probably benign 0.03
R4386:Acsm3 UTSW 7 119,373,094 (GRCm39) missense probably damaging 1.00
R5437:Acsm3 UTSW 7 119,377,720 (GRCm39) intron probably benign
R5890:Acsm3 UTSW 7 119,374,457 (GRCm39) missense probably benign
R6278:Acsm3 UTSW 7 119,373,072 (GRCm39) missense probably damaging 1.00
R6350:Acsm3 UTSW 7 119,367,256 (GRCm39) missense probably benign
R6497:Acsm3 UTSW 7 119,379,972 (GRCm39) critical splice acceptor site probably null
R6670:Acsm3 UTSW 7 119,379,978 (GRCm39) splice site probably null
R6939:Acsm3 UTSW 7 119,377,678 (GRCm39) missense probably damaging 1.00
R7037:Acsm3 UTSW 7 119,367,266 (GRCm39) missense probably damaging 1.00
R7087:Acsm3 UTSW 7 119,373,870 (GRCm39) missense probably damaging 1.00
R7301:Acsm3 UTSW 7 119,376,308 (GRCm39) missense possibly damaging 0.92
R7381:Acsm3 UTSW 7 119,380,049 (GRCm39) missense probably damaging 0.98
R7396:Acsm3 UTSW 7 119,373,052 (GRCm39) missense probably damaging 1.00
R7594:Acsm3 UTSW 7 119,384,213 (GRCm39) splice site probably null
R8676:Acsm3 UTSW 7 119,374,392 (GRCm39) missense probably damaging 1.00
R9026:Acsm3 UTSW 7 119,373,845 (GRCm39) missense probably benign 0.29
R9221:Acsm3 UTSW 7 119,368,131 (GRCm39) nonsense probably null
R9283:Acsm3 UTSW 7 119,373,115 (GRCm39) missense possibly damaging 0.73
R9483:Acsm3 UTSW 7 119,383,166 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTTTTAAGCTTATATTCTGGCCC -3'
(R):5'- ATCTCTCAAGGAAGGACAAAATTCC -3'

Sequencing Primer
(F):5'- TTCTGGCCCAAAAGATTCAAAG -3'
(R):5'- CAAATACTTGTGGTAGAGGGTCTCAC -3'
Posted On 2018-06-22