Incidental Mutation 'R3612:Acsm2'
ID 269257
Institutional Source Beutler Lab
Gene Symbol Acsm2
Ensembl Gene ENSMUSG00000030945
Gene Name acyl-CoA synthetase medium-chain family member 2
Synonyms
MMRRC Submission 040672-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3612 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 119153563-119199913 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 119190553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 90 (V90L)
Ref Sequence ENSEMBL: ENSMUSP00000118276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084647] [ENSMUST00000098084] [ENSMUST00000123638] [ENSMUST00000167935] [ENSMUST00000208019]
AlphaFold Q8K0L3
Predicted Effect possibly damaging
Transcript: ENSMUST00000084647
AA Change: V499L

PolyPhen 2 Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000081697
Gene: ENSMUSG00000030945
AA Change: V499L

DomainStartEndE-ValueType
Pfam:AMP-binding 57 470 8.9e-79 PFAM
Pfam:AMP-binding_C 478 558 3.2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098084
AA Change: V519L

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000095690
Gene: ENSMUSG00000030945
AA Change: V519L

DomainStartEndE-ValueType
Pfam:AMP-binding 82 495 9.7e-71 PFAM
Pfam:AMP-binding_C 503 583 5.8e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000123638
AA Change: V90L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118276
Gene: ENSMUSG00000030945
AA Change: V90L

DomainStartEndE-ValueType
Pfam:AMP-binding 1 66 6.6e-13 PFAM
Pfam:AMP-binding_C 74 150 1.1e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129658
Predicted Effect unknown
Transcript: ENSMUST00000129766
AA Change: V134L
SMART Domains Protein: ENSMUSP00000118174
Gene: ENSMUSG00000030945
AA Change: V134L

DomainStartEndE-ValueType
Pfam:AMP-binding 1 144 5.1e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167935
AA Change: V494L

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000126670
Gene: ENSMUSG00000030945
AA Change: V494L

DomainStartEndE-ValueType
Pfam:AMP-binding 57 470 9.1e-79 PFAM
Pfam:AMP-binding_C 483 563 3.2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208019
Predicted Effect probably benign
Transcript: ENSMUST00000207977
Meta Mutation Damage Score 0.2608 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (31/31)
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,580,251 (GRCm39) V192A probably damaging Het
Adam5 T C 8: 25,308,105 (GRCm39) probably benign Het
Ankrd12 A T 17: 66,290,542 (GRCm39) D1630E probably benign Het
Ccdc88c A T 12: 100,905,332 (GRCm39) I1085N probably damaging Het
Cdc42bpb A G 12: 111,270,256 (GRCm39) probably benign Het
Cdh19 A T 1: 110,821,026 (GRCm39) C571S probably damaging Het
Cep290 T A 10: 100,377,443 (GRCm39) L1491* probably null Het
Cherp G A 8: 73,215,840 (GRCm39) probably benign Het
Diaph3 T C 14: 87,274,893 (GRCm39) S188G probably null Het
Ech1 C T 7: 28,529,668 (GRCm39) R34C probably damaging Het
Erc2 T C 14: 27,499,134 (GRCm39) S337P possibly damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fah A G 7: 84,234,498 (GRCm39) V412A probably damaging Het
Gatc T A 5: 115,473,545 (GRCm39) E131D probably benign Het
Glrb A G 3: 80,769,337 (GRCm39) V130A possibly damaging Het
Gm4782 T A 6: 50,585,610 (GRCm39) probably null Het
Klhl1 C T 14: 96,619,206 (GRCm39) probably null Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myo15a G C 11: 60,368,505 (GRCm39) D422H probably damaging Het
Ncapd3 T A 9: 26,961,653 (GRCm39) H360Q probably damaging Het
Or1e22 T C 11: 73,376,766 (GRCm39) R295G probably benign Het
Ppargc1b T C 18: 61,443,627 (GRCm39) N528S probably benign Het
Rprd2 G A 3: 95,671,464 (GRCm39) P1313L probably damaging Het
Slc12a7 C A 13: 73,958,042 (GRCm39) D955E probably benign Het
Slc9a2 G A 1: 40,758,218 (GRCm39) probably null Het
Tex24 T A 8: 27,835,201 (GRCm39) V243D probably benign Het
Vmn2r17 A G 5: 109,577,463 (GRCm39) T505A probably benign Het
Vps37a T C 8: 40,997,977 (GRCm39) probably benign Het
Zmynd19 A G 2: 24,841,492 (GRCm39) Y20C probably damaging Het
Other mutations in Acsm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00782:Acsm2 APN 7 119,172,391 (GRCm39) missense probably damaging 1.00
IGL00930:Acsm2 APN 7 119,191,533 (GRCm39) missense possibly damaging 0.91
IGL01472:Acsm2 APN 7 119,153,759 (GRCm39) critical splice donor site probably null
IGL01927:Acsm2 APN 7 119,177,435 (GRCm39) missense possibly damaging 0.75
IGL02550:Acsm2 APN 7 119,172,507 (GRCm39) missense probably damaging 1.00
IGL02551:Acsm2 APN 7 119,172,507 (GRCm39) missense probably damaging 1.00
IGL02818:Acsm2 APN 7 119,172,804 (GRCm39) splice site probably null
IGL03064:Acsm2 APN 7 119,174,864 (GRCm39) missense probably damaging 0.98
PIT4469001:Acsm2 UTSW 7 119,177,408 (GRCm39) missense possibly damaging 0.51
R0395:Acsm2 UTSW 7 119,174,969 (GRCm39) missense probably damaging 1.00
R0416:Acsm2 UTSW 7 119,162,779 (GRCm39) missense probably benign 0.00
R0783:Acsm2 UTSW 7 119,172,340 (GRCm39) missense probably damaging 1.00
R1252:Acsm2 UTSW 7 119,172,468 (GRCm39) missense probably benign 0.15
R1432:Acsm2 UTSW 7 119,172,798 (GRCm39) missense possibly damaging 0.83
R1494:Acsm2 UTSW 7 119,174,855 (GRCm39) missense probably damaging 1.00
R1495:Acsm2 UTSW 7 119,177,349 (GRCm39) missense probably damaging 1.00
R1642:Acsm2 UTSW 7 119,162,860 (GRCm39) missense probably damaging 1.00
R1702:Acsm2 UTSW 7 119,172,787 (GRCm39) missense possibly damaging 0.88
R2082:Acsm2 UTSW 7 119,179,857 (GRCm39) missense probably benign 0.00
R2420:Acsm2 UTSW 7 119,162,857 (GRCm39) missense probably damaging 1.00
R4396:Acsm2 UTSW 7 119,195,143 (GRCm39) missense probably damaging 1.00
R4433:Acsm2 UTSW 7 119,153,732 (GRCm39) missense unknown
R4568:Acsm2 UTSW 7 119,162,740 (GRCm39) missense probably benign 0.00
R4718:Acsm2 UTSW 7 119,172,826 (GRCm39) missense probably damaging 0.96
R5025:Acsm2 UTSW 7 119,153,719 (GRCm39) missense unknown
R5497:Acsm2 UTSW 7 119,172,543 (GRCm39) missense possibly damaging 0.69
R5509:Acsm2 UTSW 7 119,172,840 (GRCm39) missense probably damaging 1.00
R5682:Acsm2 UTSW 7 119,162,774 (GRCm39) missense probably benign 0.12
R5941:Acsm2 UTSW 7 119,190,321 (GRCm39) missense probably damaging 1.00
R5956:Acsm2 UTSW 7 119,153,704 (GRCm39) missense unknown
R6129:Acsm2 UTSW 7 119,190,470 (GRCm39) splice site probably null
R6212:Acsm2 UTSW 7 119,172,505 (GRCm39) missense probably damaging 1.00
R7026:Acsm2 UTSW 7 119,191,450 (GRCm39) missense probably damaging 1.00
R7227:Acsm2 UTSW 7 119,190,556 (GRCm39) missense probably benign
R7903:Acsm2 UTSW 7 119,195,215 (GRCm39) missense probably benign 0.22
R7954:Acsm2 UTSW 7 119,179,952 (GRCm39) missense probably damaging 1.00
R8002:Acsm2 UTSW 7 119,172,480 (GRCm39) missense possibly damaging 0.81
R8066:Acsm2 UTSW 7 119,190,548 (GRCm39) missense probably damaging 0.99
R9185:Acsm2 UTSW 7 119,177,421 (GRCm39) missense possibly damaging 0.96
R9200:Acsm2 UTSW 7 119,179,839 (GRCm39) nonsense probably null
R9324:Acsm2 UTSW 7 119,179,856 (GRCm39) missense probably benign
R9507:Acsm2 UTSW 7 119,179,939 (GRCm39) missense probably benign
R9623:Acsm2 UTSW 7 119,181,975 (GRCm39) missense probably benign 0.00
Z1177:Acsm2 UTSW 7 119,177,316 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTCCACTTCATAGGGCGG -3'
(R):5'- CAGTCCTTTGCCTCACAAGTG -3'

Sequencing Primer
(F):5'- CTTCATAGGGCGGTCAGACGATATC -3'
(R):5'- GGCAATTTGAACCCAAGC -3'
Posted On 2015-02-19