Incidental Mutation 'R6670:Acsm3'
ID 527097
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 044790-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6670 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 119360106-119384119 bp(+) (GRCm39)
Type of Mutation splice site (3076 bp from exon)
DNA Base Change (assembly) T to A at 119379978 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033224] [ENSMUST00000063770] [ENSMUST00000063902] [ENSMUST00000106523] [ENSMUST00000106526] [ENSMUST00000106527] [ENSMUST00000106529] [ENSMUST00000106528] [ENSMUST00000139192] [ENSMUST00000150844]
AlphaFold Q3UNX5
Predicted Effect probably benign
Transcript: ENSMUST00000033224
Predicted Effect probably benign
Transcript: ENSMUST00000063770
AA Change: N438K

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000068803
Gene: ENSMUSG00000030935
AA Change: N438K

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: N438K

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000102136
Gene: ENSMUSG00000030935
AA Change: N438K

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: N438K

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000102137
Gene: ENSMUSG00000030935
AA Change: N438K

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: N438K

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000102139
Gene: ENSMUSG00000030935
AA Change: N438K

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: N438K

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000102138
Gene: ENSMUSG00000030935
AA Change: N438K

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: ENSMUST00000149766
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 probably null
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 noncoding transcript
Transcript: ENSMUST00000149598
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154828
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125595
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 100% (38/38)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A G 19: 43,827,850 (GRCm39) 1544 probably benign Het
AW551984 T C 9: 39,504,292 (GRCm39) D558G probably damaging Het
Bcl9l GTGAACATGAACATGAACATGAAC GTGAACATGAACATGAACATGAACATGAAC 9: 44,418,369 (GRCm39) probably benign Het
Brd8dc A G 18: 34,719,319 (GRCm39) V167A possibly damaging Het
Ccdc12 T G 9: 110,537,595 (GRCm39) probably null Het
Ctsl T C 13: 64,511,916 (GRCm39) probably null Het
Cul1 T A 6: 47,494,068 (GRCm39) D460E probably damaging Het
Dnttip2 T A 3: 122,069,870 (GRCm39) S362T probably damaging Het
Fbxw16 T A 9: 109,267,280 (GRCm39) D317V probably damaging Het
Fbxw9 T A 8: 85,788,839 (GRCm39) N196K possibly damaging Het
Grap A G 11: 61,551,064 (GRCm39) D32G probably damaging Het
Hhatl T C 9: 121,618,137 (GRCm39) D206G probably damaging Het
Hrnr A T 3: 93,239,192 (GRCm39) Q3143H unknown Het
Ighv1-62-1 T C 12: 115,350,529 (GRCm39) Y46C probably damaging Het
Krtap16-3 A T 16: 88,759,540 (GRCm39) Y58N unknown Het
Mef2c A G 13: 83,810,716 (GRCm39) K384R probably damaging Het
Nalcn A G 14: 123,702,084 (GRCm39) Y476H possibly damaging Het
Oxgr1 A T 14: 120,259,669 (GRCm39) N179K probably damaging Het
Polk G A 13: 96,633,138 (GRCm39) Q302* probably null Het
Rab3gap1 T A 1: 127,858,512 (GRCm39) S540R probably benign Het
Samd5 A T 10: 9,504,808 (GRCm39) probably null Het
Sema6d GTGATAC G 2: 124,496,762 (GRCm39) probably benign Het
Slc1a6 C A 10: 78,623,646 (GRCm39) A15D probably benign Het
Slc8a1 A G 17: 81,956,883 (GRCm39) C52R probably damaging Het
Sod2 T A 17: 13,227,252 (GRCm39) Y69N possibly damaging Het
Tank T C 2: 61,474,768 (GRCm39) probably null Het
Tbc1d23 A T 16: 57,034,580 (GRCm39) I73N probably benign Het
Tnf A C 17: 35,420,800 (GRCm39) M6R possibly damaging Het
Trmt2a C T 16: 18,068,341 (GRCm39) A16V possibly damaging Het
Ttn A G 2: 76,556,055 (GRCm39) Y21990H probably damaging Het
Uaca C T 9: 60,779,306 (GRCm39) S1231L probably benign Het
Ubr1 A G 2: 120,754,611 (GRCm39) probably null Het
Unc13b A G 4: 43,255,562 (GRCm39) D3849G probably damaging Het
Vmn2r75 T A 7: 85,797,644 (GRCm39) D723V probably damaging Het
Wnt2 C A 6: 18,028,091 (GRCm39) V48L possibly 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
R6582:Acsm3 UTSW 7 119,378,896 (GRCm39) missense probably benign
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'- CATTCTCCAGAAGTTGCGC -3'
(R):5'- AGGTTGAGCTATAGAGTCACCC -3'

Sequencing Primer
(F):5'- CCAGAAGTTGCGCCAAGTCTTTG -3'
(R):5'- GTCACCCCAGAATGCTTGATAAGTAG -3'
Posted On 2018-07-23