Incidental Mutation 'R0729:Acsm3'
ID 67389
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 038910-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0729 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 119360106-119384119 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to C at 119383207 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
SMART Domains Protein: ENSMUSP00000068803
Gene: ENSMUSG00000030935

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
SMART Domains Protein: ENSMUSP00000102136
Gene: ENSMUSG00000030935

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
SMART Domains Protein: ENSMUSP00000102137
Gene: ENSMUSG00000030935

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
SMART Domains Protein: ENSMUSP00000102139
Gene: ENSMUSG00000030935

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
SMART Domains Protein: ENSMUSP00000102138
Gene: ENSMUSG00000030935

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: ENSMUST00000133926
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125595
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149598
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149766
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154828
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 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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.0%
Validation Efficiency 97% (74/76)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C A 11: 72,050,281 (GRCm39) A828S probably benign Het
Adamts12 G A 15: 11,255,769 (GRCm39) R446H possibly damaging Het
Adgrb1 A G 15: 74,420,398 (GRCm39) N849S probably damaging Het
Ankra2 A G 13: 98,408,235 (GRCm39) D228G probably damaging Het
Bicd1 T C 6: 149,414,412 (GRCm39) V375A probably damaging Het
Blvrb A G 7: 27,147,555 (GRCm39) K5E possibly damaging Het
Cacna2d2 A G 9: 107,394,456 (GRCm39) N573D probably benign Het
Calhm2 C A 19: 47,121,356 (GRCm39) G271V possibly damaging Het
Capn13 C T 17: 73,629,064 (GRCm39) G581E probably damaging Het
Capzb T C 4: 139,016,288 (GRCm39) probably benign Het
Casd1 T C 6: 4,619,753 (GRCm39) probably benign Het
Clca4b A G 3: 144,634,111 (GRCm39) probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crx A G 7: 15,605,058 (GRCm39) probably benign Het
Cyp2c68 T C 19: 39,727,994 (GRCm39) probably benign Het
Dcaf8 T A 1: 172,000,221 (GRCm39) D126E probably benign Het
Ddx31 T C 2: 28,764,186 (GRCm39) I464T probably damaging Het
Dhx32 G A 7: 133,339,150 (GRCm39) T155I probably benign Het
Elac2 C A 11: 64,889,349 (GRCm39) P567T possibly damaging Het
Fat4 A G 3: 39,054,444 (GRCm39) probably benign Het
Fh1 T G 1: 175,442,383 (GRCm39) N156H probably damaging Het
Gm10064 T C 5: 122,835,584 (GRCm39) noncoding transcript Het
Gm14137 A G 2: 119,005,834 (GRCm39) E131G probably benign Het
Gpr22 T A 12: 31,759,312 (GRCm39) K233M probably damaging Het
Gpr63 A G 4: 25,007,480 (GRCm39) N68S probably benign Het
Gypa C T 8: 81,223,421 (GRCm39) P66S unknown Het
Htr2a A T 14: 74,879,587 (GRCm39) Q72L probably benign Het
Klhdc7b C T 15: 89,271,598 (GRCm39) R827* probably null Het
Leo1 G A 9: 75,364,420 (GRCm39) R520Q possibly damaging Het
Lrrc66 T C 5: 73,765,757 (GRCm39) M429V probably benign Het
Lrrc74a C T 12: 86,792,353 (GRCm39) Q225* probably null Het
Mamdc4 T A 2: 25,460,048 (GRCm39) N68Y probably damaging Het
Map3k10 G A 7: 27,360,992 (GRCm39) P507L probably damaging Het
Methig1 T A 15: 100,272,870 (GRCm39) C68S probably benign Het
Metrn C T 17: 26,015,202 (GRCm39) probably benign Het
Mmp12 C T 9: 7,358,290 (GRCm39) T392I possibly damaging Het
Mss51 A T 14: 20,533,160 (GRCm39) I437N probably damaging Het
Mtus2 A G 5: 148,014,097 (GRCm39) T297A probably benign Het
Myo10 T C 15: 25,722,243 (GRCm39) probably benign Het
Ncoa7 G A 10: 30,567,575 (GRCm39) P319S probably benign Het
Nlrp4d A T 7: 10,111,612 (GRCm39) probably benign Het
Obscn A G 11: 58,923,535 (GRCm39) S6455P probably damaging Het
Or5b97 T C 19: 12,878,259 (GRCm39) N295S probably damaging Het
Or8b37 G T 9: 37,959,123 (GRCm39) V202L probably benign Het
Pcdh12 A G 18: 38,415,517 (GRCm39) I536T probably benign Het
Pex5l G T 3: 33,008,685 (GRCm39) probably benign Het
Pla2g2e A C 4: 138,608,046 (GRCm39) K43Q possibly damaging Het
Rasa4 T C 5: 136,130,924 (GRCm39) probably benign Het
Rsf1 C T 7: 97,328,234 (GRCm39) R1079W probably damaging Het
Sez6 A G 11: 77,867,411 (GRCm39) T803A probably benign Het
Shcbp1 T A 8: 4,786,297 (GRCm39) N602Y probably benign Het
Slc16a13 G A 11: 70,109,857 (GRCm39) P215S probably damaging Het
Slc39a6 T C 18: 24,734,527 (GRCm39) Q54R probably benign Het
Smg1 C A 7: 117,745,512 (GRCm39) probably benign Het
Spg7 A G 8: 123,797,156 (GRCm39) N110D probably damaging Het
Sptbn1 A T 11: 30,060,902 (GRCm39) S2010T probably damaging Het
Sun1 T A 5: 139,223,619 (GRCm39) probably benign Het
Sytl5 A G X: 9,860,736 (GRCm39) E717G probably damaging Het
Tle1 A T 4: 72,044,679 (GRCm39) probably benign Het
Tm9sf4 T A 2: 153,033,065 (GRCm39) V290E probably damaging Het
Tmem63b A G 17: 45,985,060 (GRCm39) S179P probably damaging Het
Trpm3 T A 19: 22,965,153 (GRCm39) F1549L probably benign Het
Ubr4 A T 4: 139,212,631 (GRCm39) Y5063F possibly damaging Het
Uroc1 T A 6: 90,313,937 (GRCm39) Y75N probably damaging Het
Vmn2r70 T C 7: 85,215,112 (GRCm39) T141A probably benign Het
Vps13c A G 9: 67,868,931 (GRCm39) K3128E probably damaging Het
Wdr26 T C 1: 181,013,470 (GRCm39) probably null Het
Wrn T A 8: 33,738,946 (GRCm39) probably null Het
Zfp106 C T 2: 120,385,729 (GRCm39) V13M probably damaging Het
Zfp456 G A 13: 67,514,663 (GRCm39) H348Y probably damaging Het
Zfpm1 G A 8: 123,063,398 (GRCm39) R819H probably benign 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
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
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'- GCAGATTCCCACTCAGAGAAAGCAG -3'
(R):5'- AGGTCATGCCGGTTACTCAAGAGC -3'

Sequencing Primer
(F):5'- GCAGACAAGACACTCCAAGG -3'
(R):5'- AGCTCTGTTTCAAACTCTAGGTG -3'
Posted On 2013-09-03