Incidental Mutation 'R6212:Acsm2'
ID 503503
Institutional Source Beutler Lab
Gene Symbol Acsm2
Ensembl Gene ENSMUSG00000030945
Gene Name acyl-CoA synthetase medium-chain family member 2
Synonyms
MMRRC Submission 044345-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6212 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 119153563-119199913 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 119172505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 116 (I116N)
Ref Sequence ENSEMBL: ENSMUSP00000115048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084647] [ENSMUST00000098084] [ENSMUST00000130583] [ENSMUST00000167935]
AlphaFold Q8K0L3
Predicted Effect possibly damaging
Transcript: ENSMUST00000084647
AA Change: I116N

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000081697
Gene: ENSMUSG00000030945
AA Change: I116N

DomainStartEndE-ValueType
Pfam:AMP-binding 57 470 8.9e-79 PFAM
Pfam:AMP-binding_C 478 558 3.2e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000098084
AA Change: I141N

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000095690
Gene: ENSMUSG00000030945
AA Change: I141N

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: ENSMUST00000130583
AA Change: I116N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115048
Gene: ENSMUSG00000030945
AA Change: I116N

DomainStartEndE-ValueType
Pfam:AMP-binding 57 145 6.7e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000167935
AA Change: I116N

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126670
Gene: ENSMUSG00000030945
AA Change: I116N

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.2%
Validation Efficiency 96% (52/54)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3b1 T C 13: 94,587,581 (GRCm39) S452P probably damaging Het
Ap3b1 C A 13: 94,630,207 (GRCm39) H821N unknown Het
Apex1 C T 14: 51,164,350 (GRCm39) P264S probably benign Het
Arhgap27 T C 11: 103,251,698 (GRCm39) Y10C probably damaging Het
Bag6 A G 17: 35,359,278 (GRCm39) T208A probably benign Het
Brd4 G T 17: 32,421,423 (GRCm39) P771Q probably damaging Het
Capn3 A G 2: 120,307,667 (GRCm39) S69G probably benign Het
Ccdc13 A G 9: 121,627,975 (GRCm39) probably benign Het
Celsr1 T C 15: 85,800,888 (GRCm39) H2519R probably benign Het
Chd8 T A 14: 52,439,155 (GRCm39) N48I probably damaging Het
Cmip T C 8: 118,103,895 (GRCm39) Y128H probably damaging Het
Dnhd1 C T 7: 105,353,255 (GRCm39) P2803S probably damaging Het
Dusp26 G A 8: 31,584,252 (GRCm39) D120N probably damaging Het
Epha6 T C 16: 60,245,719 (GRCm39) H160R possibly damaging Het
Erg C T 16: 95,180,022 (GRCm39) V215I probably damaging Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Gabbr2 T C 4: 46,681,189 (GRCm39) D124G probably damaging Het
Gapdh T C 6: 125,139,661 (GRCm39) H203R probably damaging Het
Garin1b T C 6: 29,319,373 (GRCm39) L59P probably damaging Het
Ggnbp2 T C 11: 84,727,503 (GRCm39) M42V possibly damaging Het
Hk2 C A 6: 82,705,823 (GRCm39) A827S probably benign Het
Hoxa5 T C 6: 52,179,694 (GRCm39) E227G probably damaging Het
Itgax C A 7: 127,729,504 (GRCm39) H31N possibly damaging Het
Itgax A G 7: 127,747,025 (GRCm39) D942G probably benign Het
Kars1 A T 8: 112,726,829 (GRCm39) probably null Het
Lama3 T C 18: 12,646,702 (GRCm39) F1739L probably damaging Het
Map2k1 A T 9: 64,112,445 (GRCm39) L155Q probably damaging Het
Mcf2l A T 8: 13,067,431 (GRCm39) D1013V probably damaging Het
Mocs1 G A 17: 49,742,224 (GRCm39) G118S probably damaging Het
Ncam2 T C 16: 81,229,650 (GRCm39) S37P probably damaging Het
Nfxl1 A G 5: 72,673,553 (GRCm39) probably null Het
Nodal C T 10: 61,259,300 (GRCm39) H246Y possibly damaging Het
Nwd1 G A 8: 73,421,950 (GRCm39) V999M possibly damaging Het
Oaz3 T A 3: 94,342,375 (GRCm39) T139S probably benign Het
Or6z6 T C 7: 6,491,367 (GRCm39) probably null Het
Or7e165 A G 9: 19,694,585 (GRCm39) D52G probably damaging Het
P3h3 T A 6: 124,822,606 (GRCm39) T522S probably benign Het
Pgap1 A G 1: 54,554,052 (GRCm39) F457S probably damaging Het
Prkce T C 17: 86,866,729 (GRCm39) Y530H probably damaging Het
Ptpn3 A T 4: 57,270,070 (GRCm39) C31S probably damaging Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Serpinb6e T A 13: 34,025,220 (GRCm39) N24Y probably damaging Het
Slc4a8 T C 15: 100,709,452 (GRCm39) V937A possibly damaging Het
Smgc T A 15: 91,734,830 (GRCm39) probably benign Het
Srcap T A 7: 127,148,861 (GRCm39) N2027K probably damaging Het
Stra6l T C 4: 45,884,664 (GRCm39) Y565H probably benign Het
Tmem262 A G 19: 6,130,668 (GRCm39) E62G possibly damaging Het
Tnrc6a T A 7: 122,742,965 (GRCm39) probably null Het
Txlnb T C 10: 17,675,057 (GRCm39) I70T probably damaging Het
Whrn A T 4: 63,412,923 (GRCm39) L25* probably null Het
Zfp326 T A 5: 106,058,097 (GRCm39) V412E probably damaging Het
Zfp831 A G 2: 174,487,661 (GRCm39) R779G possibly 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
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
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'- CTTTTCCTTCAGGCTGGCAAG -3'
(R):5'- TTCTCCAGAGAAGGGCTGTG -3'

Sequencing Primer
(F):5'- CTTCAGGCTGGCAAGAGATCTTC -3'
(R):5'- TGTGCACAGCCATGGGG -3'
Posted On 2018-02-27