Incidental Mutation 'R1158:Slf2'
ID 101922
Institutional Source Beutler Lab
Gene Symbol Slf2
Ensembl Gene ENSMUSG00000036097
Gene Name SMC5-SMC6 complex localization factor 2
Synonyms 6030443O07Rik, Fam178a
MMRRC Submission 039231-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.910) question?
Stock # R1158 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 44919590-44971738 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 44919855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 36 (A36S)
Ref Sequence ENSEMBL: ENSMUSP00000093758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096053]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000096053
AA Change: A36S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000093758
Gene: ENSMUSG00000036097
AA Change: A36S

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
Meta Mutation Damage Score 0.0908 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency 98% (43/44)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adpgk T C 9: 59,217,566 (GRCm39) V193A possibly damaging Het
Ahnak A C 19: 8,991,290 (GRCm39) E4191D probably benign Het
BC024139 T A 15: 76,004,542 (GRCm39) probably benign Het
Bpifb9a T G 2: 154,104,184 (GRCm39) I209S probably benign Het
Bst1 T G 5: 43,997,834 (GRCm39) probably null Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Carf A G 1: 60,186,998 (GRCm39) K499E probably benign Het
Casq2 A G 3: 102,024,199 (GRCm39) E147G probably damaging Het
Cd8a T A 6: 71,350,712 (GRCm39) V59D probably damaging Het
Chrm5 T C 2: 112,310,214 (GRCm39) T301A probably benign Het
Cog5 G A 12: 31,920,056 (GRCm39) probably benign Het
Csmd3 T C 15: 48,156,170 (GRCm39) probably null Het
Dop1a T C 9: 86,367,609 (GRCm39) S31P probably damaging Het
Eif1ad9 A T 12: 88,296,438 (GRCm39) I139F unknown Het
Epb41 T C 4: 131,727,502 (GRCm39) probably benign Het
Fhod3 C T 18: 25,118,293 (GRCm39) A210V probably damaging Het
Gdpgp1 T C 7: 79,888,250 (GRCm39) F94L probably benign Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Htr3b T C 9: 48,847,390 (GRCm39) K375R possibly damaging Het
Inhbe G A 10: 127,187,186 (GRCm39) R77W probably damaging Het
Itgb8 T C 12: 119,166,231 (GRCm39) E100G probably damaging Het
Jakmip1 T C 5: 37,248,472 (GRCm39) V44A possibly damaging Het
Lrp12 A G 15: 39,741,827 (GRCm39) V315A probably damaging Het
Lrp1b T A 2: 40,567,506 (GRCm39) T305S unknown Het
Map3k2 A G 18: 32,350,211 (GRCm39) T354A probably benign Het
Mmp16 T C 4: 17,987,726 (GRCm39) probably null Het
Mphosph10 T C 7: 64,038,607 (GRCm39) probably benign Het
Or10a48 A G 7: 108,424,385 (GRCm39) S274P probably damaging Het
Or10ak7 A T 4: 118,791,614 (GRCm39) C144S probably damaging Het
Or4c52 T A 2: 89,845,598 (GRCm39) I108N possibly damaging Het
Or4k47 T C 2: 111,452,086 (GRCm39) E111G probably damaging Het
Or5p52 G A 7: 107,502,130 (GRCm39) V69I possibly damaging Het
Slc43a3 C A 2: 84,768,140 (GRCm39) F37L probably benign Het
Sorcs1 T C 19: 50,132,598 (GRCm39) probably benign Het
Thsd7b A C 1: 130,117,672 (GRCm39) probably null Het
Tnfrsf18 A C 4: 156,112,739 (GRCm39) I142L probably benign Het
Ttn A G 2: 76,632,855 (GRCm39) probably benign Het
Tufm T A 7: 126,088,614 (GRCm39) probably null Het
Vmn2r69 A T 7: 85,059,058 (GRCm39) probably benign Het
Zfp385c T C 11: 100,520,709 (GRCm39) probably benign Het
Zfp964 T A 8: 70,116,503 (GRCm39) C368S unknown Het
Zswim8 G A 14: 20,771,736 (GRCm39) probably benign Het
Other mutations in Slf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01734:Slf2 APN 19 44,961,706 (GRCm39) critical splice donor site probably null
IGL01904:Slf2 APN 19 44,937,580 (GRCm39) critical splice donor site probably null
IGL02429:Slf2 APN 19 44,930,167 (GRCm39) missense probably benign
IGL02899:Slf2 APN 19 44,930,459 (GRCm39) missense probably benign 0.26
Evidentiary UTSW 19 44,926,863 (GRCm39) splice site probably null
BB004:Slf2 UTSW 19 44,923,740 (GRCm39) missense probably damaging 0.97
BB014:Slf2 UTSW 19 44,923,740 (GRCm39) missense probably damaging 0.97
R0060:Slf2 UTSW 19 44,936,443 (GRCm39) missense probably damaging 1.00
R0731:Slf2 UTSW 19 44,964,165 (GRCm39) splice site probably benign
R1590:Slf2 UTSW 19 44,930,512 (GRCm39) nonsense probably null
R1608:Slf2 UTSW 19 44,937,440 (GRCm39) missense probably benign 0.08
R1823:Slf2 UTSW 19 44,923,687 (GRCm39) missense possibly damaging 0.86
R2511:Slf2 UTSW 19 44,930,045 (GRCm39) missense possibly damaging 0.86
R3040:Slf2 UTSW 19 44,969,008 (GRCm39) missense probably damaging 0.99
R3236:Slf2 UTSW 19 44,930,773 (GRCm39) missense probably benign 0.33
R3237:Slf2 UTSW 19 44,930,773 (GRCm39) missense probably benign 0.33
R3552:Slf2 UTSW 19 44,923,390 (GRCm39) nonsense probably null
R3754:Slf2 UTSW 19 44,961,676 (GRCm39) missense probably benign
R4683:Slf2 UTSW 19 44,923,920 (GRCm39) missense probably benign 0.22
R4757:Slf2 UTSW 19 44,923,497 (GRCm39) missense probably benign
R4782:Slf2 UTSW 19 44,923,364 (GRCm39) splice site probably null
R4914:Slf2 UTSW 19 44,960,100 (GRCm39) missense probably damaging 0.96
R4915:Slf2 UTSW 19 44,960,100 (GRCm39) missense probably damaging 0.96
R4916:Slf2 UTSW 19 44,960,100 (GRCm39) missense probably damaging 0.96
R4917:Slf2 UTSW 19 44,960,100 (GRCm39) missense probably damaging 0.96
R4918:Slf2 UTSW 19 44,960,100 (GRCm39) missense probably damaging 0.96
R5069:Slf2 UTSW 19 44,923,692 (GRCm39) missense possibly damaging 0.94
R5092:Slf2 UTSW 19 44,940,523 (GRCm39) missense probably benign 0.14
R5215:Slf2 UTSW 19 44,936,476 (GRCm39) missense probably damaging 0.99
R5276:Slf2 UTSW 19 44,923,600 (GRCm39) missense possibly damaging 0.84
R5656:Slf2 UTSW 19 44,961,674 (GRCm39) missense probably benign 0.13
R6132:Slf2 UTSW 19 44,949,300 (GRCm39) missense possibly damaging 0.60
R6358:Slf2 UTSW 19 44,923,864 (GRCm39) missense probably benign 0.34
R6481:Slf2 UTSW 19 44,961,603 (GRCm39) missense probably benign 0.01
R6809:Slf2 UTSW 19 44,931,907 (GRCm39) missense probably damaging 0.98
R7263:Slf2 UTSW 19 44,926,863 (GRCm39) splice site probably null
R7912:Slf2 UTSW 19 44,930,682 (GRCm39) missense probably damaging 0.96
R7914:Slf2 UTSW 19 44,947,499 (GRCm39) missense possibly damaging 0.71
R7927:Slf2 UTSW 19 44,923,740 (GRCm39) missense probably damaging 0.97
R8006:Slf2 UTSW 19 44,930,756 (GRCm39) missense probably damaging 0.99
R8154:Slf2 UTSW 19 44,923,596 (GRCm39) missense possibly damaging 0.94
R8746:Slf2 UTSW 19 44,962,063 (GRCm39) missense probably damaging 1.00
R9075:Slf2 UTSW 19 44,930,860 (GRCm39) missense probably damaging 0.99
R9352:Slf2 UTSW 19 44,931,957 (GRCm39) missense probably null 0.97
R9354:Slf2 UTSW 19 44,936,471 (GRCm39) missense probably damaging 0.98
R9369:Slf2 UTSW 19 44,923,953 (GRCm39) nonsense probably null
R9412:Slf2 UTSW 19 44,930,460 (GRCm39) missense probably benign 0.31
R9743:Slf2 UTSW 19 44,930,572 (GRCm39) missense probably benign 0.40
R9778:Slf2 UTSW 19 44,961,666 (GRCm39) missense probably benign 0.04
Z1176:Slf2 UTSW 19 44,930,104 (GRCm39) nonsense probably null
Predicted Primers
Posted On 2014-01-15