Incidental Mutation 'IGL02600:Slfn4'
ID 300043
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slfn4
Ensembl Gene ENSMUSG00000000204
Gene Name schlafen 4
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02600
Quality Score
Status
Chromosome 11
Chromosomal Location 83066012-83081042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83077832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 207 (S207T)
Ref Sequence ENSEMBL: ENSMUSP00000132595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000208] [ENSMUST00000019130] [ENSMUST00000167596] [ENSMUST00000214041] [ENSMUST00000215472]
AlphaFold Q3UV66
Predicted Effect possibly damaging
Transcript: ENSMUST00000000208
AA Change: S207T

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000000208
Gene: ENSMUSG00000000204
AA Change: S207T

DomainStartEndE-ValueType
Pfam:AlbA_2 243 382 1.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000019130
SMART Domains Protein: ENSMUSP00000019130
Gene: ENSMUSG00000018986

DomainStartEndE-ValueType
Pfam:AlbA_2 165 303 5.5e-11 PFAM
low complexity region 394 412 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000167596
AA Change: S207T

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000132595
Gene: ENSMUSG00000000204
AA Change: S207T

DomainStartEndE-ValueType
Pfam:AAA_4 243 385 1e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214041
Predicted Effect probably benign
Transcript: ENSMUST00000215472
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene belongs to the Schlafen family. All members of this family contain a Schlafen box domain that lies near an AAA domain. This protein belongs to the group 2 subset of Schlafen proteins, which are defined by a molecular weight between 58 kDa and 68 kDa and by the presence of a SWADL domain that contains the sequence Ser-Trp-Ala-Asp-Leu. In malignant melanoma cells, gene expression is up-regulated in response to interferon alpha. In bone marrow-derived macrophages, expression of this gene is induced during activation by Toll-like receptor agonists and repressed during macrophage colony-stimulating factor-mediated differentiation. Myelopoiesis is disrupted by constitutive overexpression in myeloid-lineage cells. A pseudogene of this gene is found on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T G 11: 110,200,264 (GRCm39) I483L probably benign Het
Bmpr1b A C 3: 141,546,488 (GRCm39) M466R probably damaging Het
Casp8ap2 G A 4: 32,630,246 (GRCm39) D42N probably null Het
Crebbp T A 16: 3,972,882 (GRCm39) T271S probably benign Het
Ddx27 A G 2: 166,868,124 (GRCm39) H319R probably damaging Het
Dync2i2 T A 2: 29,923,314 (GRCm39) D263V possibly damaging Het
Gckr A G 5: 31,462,374 (GRCm39) M236V probably benign Het
Gm28044 A C 13: 67,469,025 (GRCm39) probably benign Het
Gmnc T A 16: 26,781,641 (GRCm39) probably benign Het
Gpx3 C A 11: 54,800,433 (GRCm39) D210E possibly damaging Het
Lpin2 A G 17: 71,545,693 (GRCm39) N513S probably damaging Het
Myh3 C T 11: 66,974,227 (GRCm39) R170C probably damaging Het
Nrxn3 G T 12: 89,478,682 (GRCm39) probably benign Het
Nynrin A G 14: 56,101,449 (GRCm39) I373V probably benign Het
Or13a21 T C 7: 139,998,862 (GRCm39) T275A probably benign Het
Or6b6 A G 7: 106,570,756 (GRCm39) I265T possibly damaging Het
Padi3 A G 4: 140,525,467 (GRCm39) V172A probably benign Het
Pdzd2 C A 15: 12,411,105 (GRCm39) G554W probably damaging Het
Plekhg6 G A 6: 125,347,563 (GRCm39) R464* probably null Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Serinc1 A G 10: 57,399,127 (GRCm39) S259P probably benign Het
Stab2 C T 10: 86,790,123 (GRCm39) G548R probably damaging Het
Tmem229b-ps T C 10: 53,351,052 (GRCm39) noncoding transcript Het
Ttn G A 2: 76,570,509 (GRCm39) P26795S probably damaging Het
Vmn2r96 A G 17: 18,817,829 (GRCm39) M661V probably benign Het
Ybey G A 10: 76,300,165 (GRCm39) probably benign Het
Zbtb17 A G 4: 141,194,196 (GRCm39) D715G possibly damaging Het
Zgrf1 T C 3: 127,394,623 (GRCm39) probably benign Het
Other mutations in Slfn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02052:Slfn4 APN 11 83,077,800 (GRCm39) missense possibly damaging 0.94
IGL02455:Slfn4 APN 11 83,077,584 (GRCm39) missense probably damaging 1.00
IGL03294:Slfn4 APN 11 83,077,400 (GRCm39) missense probably benign 0.00
R0277:Slfn4 UTSW 11 83,077,777 (GRCm39) missense probably damaging 0.96
R0323:Slfn4 UTSW 11 83,077,777 (GRCm39) missense probably damaging 0.96
R0477:Slfn4 UTSW 11 83,079,507 (GRCm39) missense probably benign 0.06
R1370:Slfn4 UTSW 11 83,079,632 (GRCm39) missense probably damaging 1.00
R1449:Slfn4 UTSW 11 83,079,819 (GRCm39) missense probably benign 0.00
R1757:Slfn4 UTSW 11 83,076,211 (GRCm39) missense possibly damaging 0.47
R2392:Slfn4 UTSW 11 83,076,248 (GRCm39) missense possibly damaging 0.77
R3738:Slfn4 UTSW 11 83,076,137 (GRCm39) start codon destroyed probably null 0.02
R4025:Slfn4 UTSW 11 83,078,040 (GRCm39) missense probably damaging 1.00
R4732:Slfn4 UTSW 11 83,080,108 (GRCm39) unclassified probably benign
R4733:Slfn4 UTSW 11 83,080,108 (GRCm39) unclassified probably benign
R4766:Slfn4 UTSW 11 83,077,647 (GRCm39) missense possibly damaging 0.92
R4876:Slfn4 UTSW 11 83,077,844 (GRCm39) missense probably benign 0.26
R4985:Slfn4 UTSW 11 83,078,033 (GRCm39) missense probably damaging 0.98
R5033:Slfn4 UTSW 11 83,077,623 (GRCm39) missense probably damaging 1.00
R5226:Slfn4 UTSW 11 83,078,375 (GRCm39) missense possibly damaging 0.48
R5281:Slfn4 UTSW 11 83,078,025 (GRCm39) missense probably damaging 1.00
R5337:Slfn4 UTSW 11 83,080,055 (GRCm39) missense probably benign 0.35
R6207:Slfn4 UTSW 11 83,079,951 (GRCm39) missense possibly damaging 0.82
R6237:Slfn4 UTSW 11 83,079,938 (GRCm39) missense probably damaging 1.00
R6398:Slfn4 UTSW 11 83,078,000 (GRCm39) missense possibly damaging 0.76
R7721:Slfn4 UTSW 11 83,078,389 (GRCm39) splice site probably null
R7832:Slfn4 UTSW 11 83,077,419 (GRCm39) missense probably damaging 0.96
R7975:Slfn4 UTSW 11 83,077,982 (GRCm39) missense possibly damaging 0.79
R8092:Slfn4 UTSW 11 83,079,831 (GRCm39) missense probably benign
R8233:Slfn4 UTSW 11 83,078,355 (GRCm39) missense probably damaging 0.99
R8279:Slfn4 UTSW 11 83,077,482 (GRCm39) missense possibly damaging 0.86
R8692:Slfn4 UTSW 11 83,079,709 (GRCm39) missense possibly damaging 0.67
R8735:Slfn4 UTSW 11 83,077,770 (GRCm39) missense probably damaging 0.99
R9035:Slfn4 UTSW 11 83,077,476 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16