Incidental Mutation 'IGL02455:Slfn4'
ID 293786
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 # IGL02455
Quality Score
Status
Chromosome 11
Chromosomal Location 83066012-83081042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83077584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 124 (N124I)
Ref Sequence ENSEMBL: ENSMUSP00000132595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000208] [ENSMUST00000019130] [ENSMUST00000167596] [ENSMUST00000214041] [ENSMUST00000215472]
AlphaFold Q3UV66
Predicted Effect probably damaging
Transcript: ENSMUST00000000208
AA Change: N124I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000000208
Gene: ENSMUSG00000000204
AA Change: N124I

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 probably damaging
Transcript: ENSMUST00000167596
AA Change: N124I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000132595
Gene: ENSMUSG00000000204
AA Change: N124I

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 A G 17: 36,271,021 (GRCm39) V479A probably damaging Het
Adam18 T C 8: 25,141,864 (GRCm39) D235G probably damaging Het
Cdh22 T C 2: 164,984,175 (GRCm39) N359S possibly damaging Het
Cebpz G T 17: 79,242,465 (GRCm39) N396K probably benign Het
Celsr3 T A 9: 108,720,092 (GRCm39) W2493R probably benign Het
Clca3a2 C T 3: 144,787,172 (GRCm39) V500M probably benign Het
Clec4a4 A C 6: 122,990,739 (GRCm39) N160H possibly damaging Het
Crb2 T C 2: 37,684,576 (GRCm39) S1139P possibly damaging Het
Dnah8 T C 17: 30,891,308 (GRCm39) I771T probably damaging Het
Etfbkmt C T 6: 149,048,724 (GRCm39) A121V probably damaging Het
Fat4 T A 3: 39,005,280 (GRCm39) L1893Q possibly damaging Het
Fbxw13 A T 9: 109,012,255 (GRCm39) S188T probably benign Het
Fign T C 2: 63,810,841 (GRCm39) D143G probably benign Het
Foxj3 C A 4: 119,477,434 (GRCm39) H381N unknown Het
Gpr158 A T 2: 21,373,511 (GRCm39) T149S probably benign Het
Ift74 C T 4: 94,524,068 (GRCm39) Q195* probably null Het
Kif2c C A 4: 117,029,551 (GRCm39) M143I probably benign Het
Kmt2b A G 7: 30,278,303 (GRCm39) probably null Het
Krt84 C T 15: 101,434,170 (GRCm39) R599H unknown Het
Ly6g6f C T 17: 35,301,866 (GRCm39) R196H possibly damaging Het
Map4 C A 9: 109,828,901 (GRCm39) N95K probably benign Het
Mrgprx3-ps T A 7: 46,959,263 (GRCm39) noncoding transcript Het
Mroh9 T C 1: 162,903,149 (GRCm39) M85V probably benign Het
Npffr2 T C 5: 89,715,994 (GRCm39) I107T probably damaging Het
Nrcam T C 12: 44,617,313 (GRCm39) V737A probably damaging Het
Oprm1 A G 10: 6,780,219 (GRCm39) T294A probably damaging Het
Or10d5j T C 9: 39,868,198 (GRCm39) E11G probably damaging Het
Or5w17 A T 2: 87,583,927 (GRCm39) S137T possibly damaging Het
Or7g32 C T 9: 19,408,559 (GRCm39) Q172* probably null Het
Parvg A G 15: 84,214,283 (GRCm39) R156G possibly damaging Het
Pclo T C 5: 14,590,189 (GRCm39) S830P unknown Het
Pde11a T C 2: 75,988,737 (GRCm39) D468G possibly damaging Het
Peak1 A T 9: 56,134,757 (GRCm39) S195T possibly damaging Het
Pkhd1 A G 1: 20,434,425 (GRCm39) Y2338H probably damaging Het
Ppp1r1b A T 11: 98,241,395 (GRCm39) I28F probably damaging Het
Prpf8 A G 11: 75,400,084 (GRCm39) Y2326C probably benign Het
Psmd1 T A 1: 86,006,302 (GRCm39) L223I probably damaging Het
Runx3 T A 4: 134,902,841 (GRCm39) Y310N probably damaging Het
Secisbp2l C T 2: 125,615,398 (GRCm39) D76N possibly damaging Het
Spata13 G A 14: 60,944,163 (GRCm39) V519I probably benign Het
Ssh3 C T 19: 4,314,460 (GRCm39) E365K probably damaging Het
Strc A G 2: 121,206,272 (GRCm39) probably benign Het
Tdp2 T A 13: 25,025,245 (GRCm39) I338N probably damaging Het
Vmn1r13 A T 6: 57,187,457 (GRCm39) R205S probably damaging Het
Wdr19 G T 5: 65,382,102 (GRCm39) A441S probably benign Het
Ylpm1 A G 12: 85,077,037 (GRCm39) D796G probably damaging Het
Zbtb11 T C 16: 55,821,038 (GRCm39) S712P probably damaging Het
Zcchc14 A G 8: 122,333,009 (GRCm39) probably benign Het
Zfp608 T G 18: 55,032,405 (GRCm39) S512R probably damaging Het
Other mutations in Slfn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02052:Slfn4 APN 11 83,077,800 (GRCm39) missense possibly damaging 0.94
IGL02600:Slfn4 APN 11 83,077,832 (GRCm39) missense possibly damaging 0.61
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