Incidental Mutation 'IGL01472:Acsm2'
ID88333
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acsm2
Ensembl Gene ENSMUSG00000030945
Gene Nameacyl-CoA synthetase medium-chain family member 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL01472
Quality Score
Status
Chromosome7
Chromosomal Location119554340-119600690 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 119554536 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000095690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098084]
Predicted Effect probably null
Transcript: ENSMUST00000098084
SMART Domains Protein: ENSMUSP00000095690
Gene: ENSMUSG00000030945

DomainStartEndE-ValueType
Pfam:AMP-binding 82 495 9.7e-71 PFAM
Pfam:AMP-binding_C 503 583 5.8e-22 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 T C 1: 171,252,850 F324S probably damaging Het
Alg10b T A 15: 90,227,697 L248Q possibly damaging Het
Antxr2 T A 5: 98,027,499 T90S probably benign Het
Arhgap21 C T 2: 20,849,581 E1657K probably damaging Het
Atp13a5 T G 16: 29,275,423 D803A probably damaging Het
Bzw2 T C 12: 36,109,796 D185G probably damaging Het
Camta2 A G 11: 70,684,124 S62P probably damaging Het
Cep85 T C 4: 134,134,166 Q599R possibly damaging Het
Chsy3 G A 18: 59,176,367 V231I probably damaging Het
Cnbd2 C T 2: 156,375,348 R457W probably damaging Het
Col20a1 A G 2: 181,007,832 T1036A probably benign Het
Colgalt2 T C 1: 152,506,878 Y494H probably damaging Het
Cox15 G T 19: 43,743,665 Y237* probably null Het
Cpne9 C A 6: 113,293,022 S281Y possibly damaging Het
D830013O20Rik G A 12: 73,364,316 noncoding transcript Het
Dnah5 C T 15: 28,331,726 R2153C probably damaging Het
Fam228a A G 12: 4,715,610 I267T possibly damaging Het
Fat4 G A 3: 38,888,070 A371T probably damaging Het
Gm1818 T C 12: 48,556,289 noncoding transcript Het
Gm5592 T C 7: 41,286,074 probably benign Het
Golga4 C A 9: 118,532,574 L207I probably damaging Het
Gtf3c1 A G 7: 125,651,054 probably benign Het
Hao1 C T 2: 134,554,230 E35K probably benign Het
Iqch T C 9: 63,547,934 I194V probably benign Het
Ism1 A T 2: 139,757,303 T392S probably damaging Het
Lcmt1 A G 7: 123,428,153 Y313C probably damaging Het
Loxl4 A G 19: 42,597,549 C718R probably damaging Het
Lyar T G 5: 38,224,722 I16R possibly damaging Het
Map3k20 T C 2: 72,355,553 probably benign Het
Mtus1 T C 8: 41,002,412 T941A probably benign Het
Myh8 A G 11: 67,288,379 probably benign Het
Myof T C 19: 37,923,076 D1482G probably benign Het
Nr4a3 C A 4: 48,071,133 A534D probably damaging Het
Oas1c A G 5: 120,802,921 V269A probably damaging Het
Odf2 T A 2: 29,893,059 S5T probably damaging Het
Olfr1163 T A 2: 88,070,978 T135S possibly damaging Het
Olfr1412 T A 1: 92,588,972 M214K possibly damaging Het
Olfr481 T C 7: 108,081,204 S137P probably benign Het
Pbk A G 14: 65,816,710 T235A probably benign Het
Phrf1 T C 7: 141,256,490 probably benign Het
Prkci A G 3: 31,050,192 D568G probably damaging Het
Prom2 T A 2: 127,532,882 Y578F probably benign Het
Prph T C 15: 99,058,593 probably benign Het
Ryr3 A G 2: 112,672,248 V3527A probably benign Het
Scn10a C T 9: 119,617,763 V1400I probably damaging Het
Slc10a2 A G 8: 5,091,652 L244P probably damaging Het
Tardbp A G 4: 148,622,064 V96A probably benign Het
Tbc1d4 C A 14: 101,489,864 E504* probably null Het
Tmed3 T C 9: 89,702,875 E109G probably benign Het
Tnc C T 4: 64,006,419 R1014H probably benign Het
Tpcn2 C T 7: 145,267,378 R313Q probably damaging Het
Trim45 A G 3: 100,928,065 T455A probably benign Het
Txlna A G 4: 129,632,115 I313T probably damaging Het
Vmn1r202 A T 13: 22,501,989 I86K possibly damaging Het
Vmn2r14 C A 5: 109,216,314 E579* probably null Het
Wrn T A 8: 33,329,172 I8F possibly damaging Het
Zc3h18 A G 8: 122,416,657 probably benign Het
Zfyve26 A T 12: 79,276,343 H876Q probably benign Het
Znrf2 C T 6: 54,863,972 T177I probably damaging Het
Other mutations in Acsm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00782:Acsm2 APN 7 119573168 missense probably damaging 1.00
IGL00930:Acsm2 APN 7 119592310 missense possibly damaging 0.91
IGL01927:Acsm2 APN 7 119578212 missense possibly damaging 0.75
IGL02550:Acsm2 APN 7 119573284 missense probably damaging 1.00
IGL02551:Acsm2 APN 7 119573284 missense probably damaging 1.00
IGL02818:Acsm2 APN 7 119573581 intron probably null
IGL03064:Acsm2 APN 7 119575641 missense probably damaging 0.98
PIT4469001:Acsm2 UTSW 7 119578185 missense possibly damaging 0.51
R0395:Acsm2 UTSW 7 119575746 missense probably damaging 1.00
R0416:Acsm2 UTSW 7 119563556 missense probably benign 0.00
R0783:Acsm2 UTSW 7 119573117 missense probably damaging 1.00
R1252:Acsm2 UTSW 7 119573245 missense probably benign 0.15
R1432:Acsm2 UTSW 7 119573575 missense possibly damaging 0.83
R1494:Acsm2 UTSW 7 119575632 missense probably damaging 1.00
R1495:Acsm2 UTSW 7 119578126 missense probably damaging 1.00
R1642:Acsm2 UTSW 7 119563637 missense probably damaging 1.00
R1702:Acsm2 UTSW 7 119573564 missense possibly damaging 0.88
R2082:Acsm2 UTSW 7 119580634 missense probably benign 0.00
R2420:Acsm2 UTSW 7 119563634 missense probably damaging 1.00
R3612:Acsm2 UTSW 7 119591330 missense probably damaging 0.97
R4396:Acsm2 UTSW 7 119595920 missense probably damaging 1.00
R4433:Acsm2 UTSW 7 119554509 missense unknown
R4568:Acsm2 UTSW 7 119563517 missense probably benign 0.00
R4718:Acsm2 UTSW 7 119573603 missense probably damaging 0.96
R5025:Acsm2 UTSW 7 119554496 missense unknown
R5497:Acsm2 UTSW 7 119573320 missense possibly damaging 0.69
R5509:Acsm2 UTSW 7 119573617 missense probably damaging 1.00
R5682:Acsm2 UTSW 7 119563551 missense probably benign 0.12
R5941:Acsm2 UTSW 7 119591098 missense probably damaging 1.00
R5956:Acsm2 UTSW 7 119554481 missense unknown
R6129:Acsm2 UTSW 7 119591247 unclassified probably null
R6212:Acsm2 UTSW 7 119573282 missense probably damaging 1.00
R7026:Acsm2 UTSW 7 119592227 missense probably damaging 1.00
Posted On2013-11-18