Incidental Mutation 'R5337:Slfn4'
ID 423585
Institutional Source Beutler Lab
Gene Symbol Slfn4
Ensembl Gene ENSMUSG00000000204
Gene Name schlafen 4
Synonyms
MMRRC Submission 042917-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5337 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 83066012-83081042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83080055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 189 (F189L)
Ref Sequence ENSEMBL: ENSMUSP00000150793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000208] [ENSMUST00000019130] [ENSMUST00000167596] [ENSMUST00000214041] [ENSMUST00000215472]
AlphaFold Q3UV66
Predicted Effect probably benign
Transcript: ENSMUST00000000208
AA Change: F582L

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000000208
Gene: ENSMUSG00000000204
AA Change: F582L

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 benign
Transcript: ENSMUST00000167596
AA Change: F582L

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000132595
Gene: ENSMUSG00000000204
AA Change: F582L

DomainStartEndE-ValueType
Pfam:AAA_4 243 385 1e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214041
Predicted Effect probably benign
Transcript: ENSMUST00000215472
AA Change: F189L

PolyPhen 2 Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (59/60)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd15 T A 11: 77,409,665 (GRCm39) probably null Het
Akap8l A G 17: 32,555,368 (GRCm39) M237T possibly damaging Het
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Api5 G T 2: 94,256,033 (GRCm39) A218E possibly damaging Het
Bltp2 T A 11: 78,156,034 (GRCm39) I182N possibly damaging Het
Cfap68 C A 9: 50,677,049 (GRCm39) C14F probably benign Het
Cftr A G 6: 18,319,058 (GRCm39) D1336G probably damaging Het
Chd1l G A 3: 97,469,932 (GRCm39) R865W probably damaging Het
Cimip2b C T 4: 43,427,687 (GRCm39) probably null Het
Cmya5 T C 13: 93,219,781 (GRCm39) K3223E probably benign Het
Cspg4b T A 13: 113,455,299 (GRCm39) H448Q probably damaging Het
Cuzd1 A G 7: 130,917,803 (GRCm39) Y266H probably damaging Het
Dnajc5b A T 3: 19,628,946 (GRCm39) Y80F probably damaging Het
Dock6 A G 9: 21,740,844 (GRCm39) S915P possibly damaging Het
Fat4 T A 3: 38,945,776 (GRCm39) D1556E probably damaging Het
Fat4 A G 3: 39,064,527 (GRCm39) T4828A probably benign Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gja3 T G 14: 57,273,289 (GRCm39) D361A probably benign Het
Gpr155 T C 2: 73,178,592 (GRCm39) E704G probably benign Het
Greb1l A G 18: 10,509,143 (GRCm39) E485G probably damaging Het
Grik1 CGG CGGG 16: 87,720,082 (GRCm39) probably null Het
H6pd A G 4: 150,066,241 (GRCm39) V715A probably benign Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnip1 T G 11: 33,592,389 (GRCm39) probably benign Het
Kif21b T C 1: 136,098,881 (GRCm39) S1390P probably damaging Het
Lrrc61 G A 6: 48,545,308 (GRCm39) V44M probably damaging Het
Map3k4 G T 17: 12,490,497 (GRCm39) N311K probably damaging Het
Mgat5 T C 1: 127,387,658 (GRCm39) F538S possibly damaging Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Ndst1 A T 18: 60,823,079 (GRCm39) L829Q probably damaging Het
Neto1 A T 18: 86,416,434 (GRCm39) H47L probably benign Het
Or10ak11 T C 4: 118,686,863 (GRCm39) Y258C probably benign Het
Or10p22 A G 10: 128,826,548 (GRCm39) T256A probably benign Het
Or51r1 T C 7: 102,228,481 (GRCm39) S260P probably damaging Het
Or5p61 A T 7: 107,758,480 (GRCm39) V200D probably benign Het
Or6c214 A T 10: 129,590,403 (GRCm39) C305* probably null Het
Pds5b T C 5: 150,717,062 (GRCm39) F1120L probably benign Het
Phkb A G 8: 86,604,874 (GRCm39) Y93C probably damaging Het
Pilra C T 5: 137,834,032 (GRCm39) probably benign Het
Pmvk T C 3: 89,375,878 (GRCm39) V146A probably benign Het
Proz T A 8: 13,116,854 (GRCm39) D135E probably benign Het
Psg23 A T 7: 18,345,997 (GRCm39) W233R probably benign Het
Rgl2 A T 17: 34,153,958 (GRCm39) I455F probably damaging Het
Rhpn1 A G 15: 75,580,054 (GRCm39) Q39R probably benign Het
Rims4 T G 2: 163,707,763 (GRCm39) M100L probably benign Het
Sacs T A 14: 61,430,963 (GRCm39) probably benign Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Tmem127 T C 2: 127,098,065 (GRCm39) Y129H probably damaging Het
Trim50 C T 5: 135,396,330 (GRCm39) T426M probably damaging Het
Trpc3 A T 3: 36,692,519 (GRCm39) probably benign Het
Tsga10ip A T 19: 5,444,363 (GRCm39) S23T probably benign Het
Tut7 G A 13: 59,939,666 (GRCm39) T695I probably damaging Het
Uspl1 T C 5: 149,151,556 (GRCm39) S720P probably damaging Het
Zc3h18 A G 8: 123,113,641 (GRCm39) D211G probably damaging Het
Zswim4 G A 8: 84,961,708 (GRCm39) P55L probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- ACTTGGGTCATAAGACAATGTGTC -3'
(R):5'- ACCAGCCTGTAGACTGTCTTAC -3'

Sequencing Primer
(F):5'- GTCTTTATGACTCAAGCGCG -3'
(R):5'- GCCTGTAGACTGTCTTACATACAAG -3'
Posted On 2016-08-04