Incidental Mutation 'IGL01904:Slf2'
ID179628
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slf2
Ensembl Gene ENSMUSG00000036097
Gene NameSMC5-SMC6 complex localization factor 2
SynonymsFam178a, 6030443O07Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.894) question?
Stock #IGL01904
Quality Score
Status
Chromosome19
Chromosomal Location44931119-44983787 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 44949141 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000093758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096053]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083225
Predicted Effect probably null
Transcript: ENSMUST00000096053
SMART Domains Protein: ENSMUSP00000093758
Gene: ENSMUSG00000036097

DomainStartEndE-ValueType
low complexity region 7 24 N/A INTRINSIC
low complexity region 91 103 N/A INTRINSIC
low complexity region 211 226 N/A INTRINSIC
coiled coil region 239 266 N/A INTRINSIC
low complexity region 495 514 N/A INTRINSIC
low complexity region 528 539 N/A INTRINSIC
low complexity region 549 568 N/A INTRINSIC
low complexity region 572 582 N/A INTRINSIC
low complexity region 601 616 N/A INTRINSIC
Pfam:FAM178 647 1021 3.9e-146 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N22Rik A C 5: 11,921,456 N125T probably benign Het
Dnah5 T C 15: 28,307,364 I1746T probably benign Het
Eml3 T C 19: 8,936,766 probably benign Het
Eml6 C A 11: 29,838,613 E491* probably null Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Hs3st2 C T 7: 121,500,984 P351L probably damaging Het
Igf2r A T 17: 12,714,911 Y819N probably damaging Het
Kifc3 C A 8: 95,137,957 A42S possibly damaging Het
Mrps17 A G 5: 129,716,801 T20A probably damaging Het
Msh6 T C 17: 87,984,732 V305A probably benign Het
Olfr449 T C 6: 42,838,289 M136T possibly damaging Het
Olfr872 T G 9: 20,260,290 M150R probably damaging Het
Pappa2 A G 1: 158,783,941 L1484P probably damaging Het
Polr3c A T 3: 96,716,665 probably null Het
Ros1 C A 10: 52,077,911 E1877D probably damaging Het
Slc5a4b T C 10: 76,060,426 N565S probably damaging Het
Suclg2 A T 6: 95,588,934 probably benign Het
Sult2a8 T C 7: 14,425,457 E79G probably damaging Het
Triobp A G 15: 78,967,364 T573A possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfand5 C T 19: 21,279,758 probably benign Het
Zfhx4 C A 3: 5,412,709 H3461Q probably damaging Het
Other mutations in Slf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01734:Slf2 APN 19 44973267 critical splice donor site probably null
IGL02429:Slf2 APN 19 44941728 missense probably benign
IGL02899:Slf2 APN 19 44942020 missense probably benign 0.26
R0060:Slf2 UTSW 19 44948004 missense probably damaging 1.00
R0731:Slf2 UTSW 19 44975726 splice site probably benign
R1158:Slf2 UTSW 19 44931416 missense probably damaging 0.99
R1590:Slf2 UTSW 19 44942073 nonsense probably null
R1608:Slf2 UTSW 19 44949001 missense probably benign 0.08
R1823:Slf2 UTSW 19 44935248 missense possibly damaging 0.86
R2511:Slf2 UTSW 19 44941606 missense possibly damaging 0.86
R3040:Slf2 UTSW 19 44980569 missense probably damaging 0.99
R3236:Slf2 UTSW 19 44942334 missense probably benign 0.33
R3237:Slf2 UTSW 19 44942334 missense probably benign 0.33
R3552:Slf2 UTSW 19 44934951 nonsense probably null
R3754:Slf2 UTSW 19 44973237 missense probably benign
R4683:Slf2 UTSW 19 44935481 missense probably benign 0.22
R4757:Slf2 UTSW 19 44935058 missense probably benign
R4782:Slf2 UTSW 19 44934925 splice site probably null
R4914:Slf2 UTSW 19 44971661 missense probably damaging 0.96
R4915:Slf2 UTSW 19 44971661 missense probably damaging 0.96
R4916:Slf2 UTSW 19 44971661 missense probably damaging 0.96
R4917:Slf2 UTSW 19 44971661 missense probably damaging 0.96
R4918:Slf2 UTSW 19 44971661 missense probably damaging 0.96
R5069:Slf2 UTSW 19 44935253 missense possibly damaging 0.94
R5092:Slf2 UTSW 19 44952084 missense probably benign 0.14
R5215:Slf2 UTSW 19 44948037 missense probably damaging 0.99
R5276:Slf2 UTSW 19 44935161 missense possibly damaging 0.84
R5656:Slf2 UTSW 19 44973235 missense probably benign 0.13
R6132:Slf2 UTSW 19 44960861 missense possibly damaging 0.60
R6358:Slf2 UTSW 19 44935425 missense probably benign 0.34
R6481:Slf2 UTSW 19 44973164 missense probably benign 0.01
R6809:Slf2 UTSW 19 44943468 missense probably damaging 0.98
R7263:Slf2 UTSW 19 44938424 splice site probably null
R7912:Slf2 UTSW 19 44942243 missense probably damaging 0.96
R7993:Slf2 UTSW 19 44942243 missense probably damaging 0.96
R8006:Slf2 UTSW 19 44942317 missense probably damaging 0.99
Z1176:Slf2 UTSW 19 44941665 nonsense probably null
Posted On2014-05-07