Incidental Mutation 'R5497:Acsm2'
ID 432416
Institutional Source Beutler Lab
Gene Symbol Acsm2
Ensembl Gene ENSMUSG00000030945
Gene Name acyl-CoA synthetase medium-chain family member 2
Synonyms
MMRRC Submission 043058-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5497 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 119153563-119199913 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119172543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 129 (T129S)
Ref Sequence ENSEMBL: ENSMUSP00000115048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084647] [ENSMUST00000098084] [ENSMUST00000130583] [ENSMUST00000167935]
AlphaFold Q8K0L3
Predicted Effect probably benign
Transcript: ENSMUST00000084647
AA Change: T129S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081697
Gene: ENSMUSG00000030945
AA Change: T129S

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: T154S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095690
Gene: ENSMUSG00000030945
AA Change: T154S

DomainStartEndE-ValueType
Pfam:AMP-binding 82 495 9.7e-71 PFAM
Pfam:AMP-binding_C 503 583 5.8e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000130583
AA Change: T129S

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000115048
Gene: ENSMUSG00000030945
AA Change: T129S

DomainStartEndE-ValueType
Pfam:AMP-binding 57 145 6.7e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167935
AA Change: T129S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126670
Gene: ENSMUSG00000030945
AA Change: T129S

DomainStartEndE-ValueType
Pfam:AMP-binding 57 470 9.1e-79 PFAM
Pfam:AMP-binding_C 483 563 3.2e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209069
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A T 11: 72,056,360 (GRCm39) M800K probably benign Het
Abca9 G A 11: 110,021,518 (GRCm39) A1064V probably damaging Het
Adamts9 A T 6: 92,831,346 (GRCm39) C755S probably damaging Het
Adarb1 T C 10: 77,161,723 (GRCm39) D2G probably damaging Het
Apaf1 G A 10: 90,835,518 (GRCm39) A1098V probably damaging Het
Asap3 A G 4: 135,966,533 (GRCm39) H537R probably benign Het
Atp2a2 C T 5: 122,596,232 (GRCm39) C887Y probably damaging Het
Atp6v0a1 G A 11: 100,920,011 (GRCm39) V215M probably damaging Het
Cacng8 A G 7: 3,464,069 (GRCm39) E407G probably benign Het
Capn8 G A 1: 182,447,745 (GRCm39) E535K probably benign Het
Cebpe A G 14: 54,948,052 (GRCm39) F264L probably benign Het
Ces1c A C 8: 93,857,343 (GRCm39) N79K possibly damaging Het
Cfap58 T G 19: 48,017,548 (GRCm39) S803A probably benign Het
Cpa1 A G 6: 30,640,729 (GRCm39) T124A probably benign Het
Csmd1 A G 8: 16,135,195 (GRCm39) S1654P probably benign Het
Dmbt1 A T 7: 130,665,133 (GRCm39) probably benign Het
Eif3e T C 15: 43,134,366 (GRCm39) Y127C probably damaging Het
Fhip2a G C 19: 57,369,583 (GRCm39) probably null Het
Galnt5 T C 2: 57,915,340 (GRCm39) M632T probably damaging Het
Gja8 A G 3: 96,827,513 (GRCm39) S50P probably damaging Het
Gon7 A G 12: 102,720,363 (GRCm39) S90P probably benign Het
Gucy2g C T 19: 55,187,133 (GRCm39) V1096I probably benign Het
Gxylt2 A G 6: 100,764,290 (GRCm39) N325S probably benign Het
H2-Ob A G 17: 34,460,144 (GRCm39) D85G probably benign Het
Heatr1 T A 13: 12,435,945 (GRCm39) I1161N possibly damaging Het
Hjurp G A 1: 88,194,042 (GRCm39) H289Y possibly damaging Het
Hsd3b7 A G 7: 127,401,060 (GRCm39) Y99C probably damaging Het
Ifnar1 T G 16: 91,302,252 (GRCm39) Y21D probably benign Het
Isoc2b C T 7: 4,853,782 (GRCm39) V131I probably benign Het
Klc3 T C 7: 19,128,595 (GRCm39) I500V probably benign Het
Lrp5 C A 19: 3,652,319 (GRCm39) G1184W probably damaging Het
Map2k4 A G 11: 65,626,031 (GRCm39) I136T probably damaging Het
Map3k7 T C 4: 31,991,719 (GRCm39) F319S possibly damaging Het
Muc5ac A G 7: 141,361,380 (GRCm39) T1564A probably damaging Het
Nptx2 A T 5: 144,492,999 (GRCm39) D362V probably damaging Het
Nutf2-ps1 A T 19: 53,577,265 (GRCm39) I52N probably damaging Het
Or2aj4 C T 16: 19,385,080 (GRCm39) M184I probably benign Het
Pkhd1 T A 1: 20,447,628 (GRCm39) Y2255F possibly damaging Het
Primpol A T 8: 47,045,657 (GRCm39) Y308* probably null Het
Retreg2 G A 1: 75,121,633 (GRCm39) V219I probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rph3a T A 5: 121,080,253 (GRCm39) E675V probably benign Het
Ryr2 A T 13: 11,720,587 (GRCm39) M2687K probably null Het
Shank2 A G 7: 143,963,271 (GRCm39) D293G probably damaging Het
Snx6 A G 12: 54,803,846 (GRCm39) V154A probably damaging Het
Srm G T 4: 148,678,566 (GRCm39) Q264H probably benign Het
Styk1 A T 6: 131,281,670 (GRCm39) I316N probably damaging Het
Syne2 A G 12: 75,927,163 (GRCm39) N103S probably benign Het
Tas2r105 G A 6: 131,663,805 (GRCm39) probably null Het
Tbcel T A 9: 42,363,041 (GRCm39) M1L possibly damaging Het
Tlr3 C T 8: 45,851,851 (GRCm39) D349N possibly damaging Het
Tm9sf3 T C 19: 41,203,555 (GRCm39) S574G probably benign Het
Usp31 A T 7: 121,250,824 (GRCm39) V783E probably damaging Het
Vmn2r61 T A 7: 41,924,906 (GRCm39) Y487N possibly damaging Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Zfp980 A G 4: 145,428,017 (GRCm39) K249E 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
R3612:Acsm2 UTSW 7 119,190,553 (GRCm39) missense probably damaging 0.97
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
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'- TTTCCTTCAGGCTGGCAAGAG -3'
(R):5'- TTCTCCAGAGAAGGGCTGTG -3'

Sequencing Primer
(F):5'- CTTCAGGCTGGCAAGAGATCTTC -3'
(R):5'- TGTGCACAGCCATGGGG -3'
Posted On 2016-10-05