Incidental Mutation 'IGL02429:Slf2'
ID293054
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: 0.814) question?
Stock #IGL02429
Quality Score
Status
Chromosome19
Chromosomal Location44931119-44983787 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 44941728 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 415 (S415P)
Ref Sequence ENSEMBL: ENSMUSP00000093758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096053]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083225
Predicted Effect probably benign
Transcript: ENSMUST00000096053
AA Change: S415P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093758
Gene: ENSMUSG00000036097
AA Change: S415P

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd A T 1: 127,759,716 D245V probably damaging Het
Adamts16 G A 13: 70,787,170 probably benign Het
Arhgap36 A G X: 49,494,706 D77G possibly damaging Het
Asap1 A T 15: 64,167,740 M187K probably damaging Het
Aspm T C 1: 139,479,810 V2145A probably benign Het
Casc4 A G 2: 121,911,987 T306A probably benign Het
Cd46 T C 1: 195,085,424 T110A probably benign Het
Chl1 T A 6: 103,664,809 probably benign Het
Clca3b A G 3: 144,828,135 L493S probably damaging Het
Col11a2 C T 17: 34,042,292 T72M probably damaging Het
Cyfip1 T A 7: 55,871,982 probably benign Het
Frmd4b T C 6: 97,325,429 probably benign Het
Glyr1 A G 16: 5,019,376 M397T probably benign Het
Gtf2a1l G T 17: 88,668,713 M1I probably null Het
Hdac4 A G 1: 92,012,695 L154P probably benign Het
Ints8 A T 4: 11,231,720 C422S probably damaging Het
Kng2 T A 16: 23,012,079 K160I probably damaging Het
Lrrc23 C A 6: 124,778,167 A136S probably damaging Het
Ltf T C 9: 111,026,125 I402T possibly damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mfsd4a T C 1: 132,028,499 H509R probably benign Het
Mthfd1l A G 10: 4,089,334 K782E probably damaging Het
Mvb12b G A 2: 33,827,788 R114W probably damaging Het
Myh4 A T 11: 67,258,982 K1818* probably null Het
Myo1h C T 5: 114,359,738 probably benign Het
Ncapd3 T A 9: 27,089,302 S1402T probably benign Het
Nutm2 A G 13: 50,469,480 N71S probably benign Het
Oas1c C A 5: 120,802,068 M344I probably benign Het
Olfr978 T A 9: 39,993,842 F11I probably benign Het
Phldb1 A G 9: 44,700,950 L1019P probably damaging Het
Plxnc1 T C 10: 94,882,591 E494G probably benign Het
Pole T C 5: 110,299,800 I734T probably benign Het
Ppp1r3b T C 8: 35,384,615 S203P probably benign Het
Pth2r G T 1: 65,346,839 M240I probably benign Het
Ptprr T A 10: 116,273,767 F394I probably damaging Het
Rabgef1 T C 5: 130,210,488 S265P possibly damaging Het
Rbpjl A G 2: 164,413,895 D353G possibly damaging Het
Rfc3 A G 5: 151,651,131 Y8H probably benign Het
Rph3a A T 5: 120,980,124 probably null Het
Runx1t1 A T 4: 13,865,294 probably benign Het
Slc37a1 T A 17: 31,300,509 probably null Het
Slc38a10 T C 11: 120,134,888 probably benign Het
Slc38a6 T C 12: 73,350,568 V328A probably benign Het
Spata17 C A 1: 187,140,434 R60L possibly damaging Het
Svil T A 18: 5,118,369 D2237E probably benign Het
Swap70 T A 7: 110,263,972 N169K probably benign Het
Tnfrsf11a A G 1: 105,827,718 D505G probably benign Het
Traf1 A G 2: 34,949,103 V70A probably benign Het
Traf3 T A 12: 111,243,465 V165E probably benign Het
Trpc5 T C X: 144,411,799 E570G probably damaging Het
Ubash3a A G 17: 31,241,305 N601S probably benign Het
Vmn2r30 C T 7: 7,334,244 C131Y possibly damaging Het
Vmn2r43 T C 7: 8,255,552 I221V probably benign Het
Vmn2r97 T A 17: 18,930,334 V481E possibly damaging Het
Wisp3 T C 10: 39,154,993 N178S probably benign Het
Other mutations in Slf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01734:Slf2 APN 19 44973267 critical splice donor site probably null
IGL01904:Slf2 APN 19 44949141 critical splice donor site probably null
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
Posted On2015-04-16