Incidental Mutation 'IGL01778:Slfn9'
ID153741
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slfn9
Ensembl Gene ENSMUSG00000069793
Gene Nameschlafen 9
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL01778
Quality Score
Status
Chromosome11
Chromosomal Location82978390-82991830 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 82987374 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 310 (C310S)
Ref Sequence ENSEMBL: ENSMUSP00000115273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038211] [ENSMUST00000092840] [ENSMUST00000138797]
Predicted Effect probably damaging
Transcript: ENSMUST00000038211
AA Change: C310S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000044435
Gene: ENSMUSG00000069793
AA Change: C310S

DomainStartEndE-ValueType
low complexity region 28 44 N/A INTRINSIC
Pfam:AlbA_2 205 343 2.3e-17 PFAM
Pfam:DUF2075 592 766 9.7e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000092840
AA Change: C310S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090515
Gene: ENSMUSG00000069793
AA Change: C310S

DomainStartEndE-ValueType
low complexity region 28 44 N/A INTRINSIC
Pfam:AAA_4 205 344 1.6e-18 PFAM
Pfam:DUF2075 592 766 1.2e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000138797
AA Change: C310S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115273
Gene: ENSMUSG00000069793
AA Change: C310S

DomainStartEndE-ValueType
low complexity region 28 44 N/A INTRINSIC
Pfam:AAA_4 205 344 3.8e-19 PFAM
Pfam:DUF2075 592 642 1.9e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183379
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt2 T C 4: 154,666,705 K325E probably benign Het
Arc C T 15: 74,672,355 M6I probably benign Het
Atp7b A T 8: 21,994,828 D1404E probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Cdk5rap1 T A 2: 154,366,036 N156I probably damaging Het
Ctsa T C 2: 164,834,310 probably benign Het
Depdc1b T G 13: 108,362,327 N181K probably benign Het
Epg5 T C 18: 78,019,274 V1994A probably damaging Het
Epyc T A 10: 97,681,237 C312* probably null Het
Erv3 T A 2: 131,855,957 R161* probably null Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gfra3 T C 18: 34,691,591 T280A possibly damaging Het
Gldn A T 9: 54,334,492 probably null Het
Gm6768 T C 12: 119,262,496 noncoding transcript Het
Gtf3c4 G A 2: 28,835,088 R211C probably damaging Het
Hsh2d A G 8: 72,193,507 D16G probably damaging Het
Klk15 T A 7: 43,938,838 M190K probably damaging Het
Klri1 A G 6: 129,717,047 S26P possibly damaging Het
Krt78 T A 15: 101,950,967 D265V probably damaging Het
Lgr5 A C 10: 115,462,702 I355S probably damaging Het
Lig3 T A 11: 82,794,541 V595D probably damaging Het
Map2k6 A C 11: 110,512,869 probably benign Het
Mdm4 A G 1: 132,994,547 S286P probably benign Het
Olfr320 A G 11: 58,684,269 Y132C probably damaging Het
Pofut1 T A 2: 153,248,528 M114K probably damaging Het
Rdh13 C T 7: 4,430,389 probably null Het
Reg3g T A 6: 78,466,833 I131F probably benign Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc8a2 T A 7: 16,158,893 F827I probably damaging Het
Sypl A G 12: 32,975,642 Y235C probably damaging Het
Trav7-4 A T 14: 53,461,641 T82S possibly damaging Het
Trim28 T A 7: 13,030,702 V782D probably damaging Het
Ttn G A 2: 76,744,898 T25217M probably damaging Het
Usp6nl A G 2: 6,427,570 T260A possibly damaging Het
Vmn2r54 A T 7: 12,632,082 N308K probably benign Het
Xdh T C 17: 73,900,280 E986G probably benign Het
Zfp770 T C 2: 114,196,238 D450G probably damaging Het
Zw10 T G 9: 49,069,615 S438R probably benign Het
Other mutations in Slfn9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00900:Slfn9 APN 11 82981371 nonsense probably null
IGL01340:Slfn9 APN 11 82981751 missense probably benign 0.29
IGL01543:Slfn9 APN 11 82987949 missense probably benign
IGL01735:Slfn9 APN 11 82982332 missense probably damaging 1.00
IGL01863:Slfn9 APN 11 82981325 missense probably benign 0.27
IGL01997:Slfn9 APN 11 82987677 missense possibly damaging 0.80
IGL02380:Slfn9 APN 11 82981220 missense probably benign 0.23
IGL02993:Slfn9 APN 11 82981196 missense probably benign 0.18
R1463:Slfn9 UTSW 11 82981698 missense possibly damaging 0.78
R1687:Slfn9 UTSW 11 82982157 missense probably damaging 0.99
R1786:Slfn9 UTSW 11 82981307 missense probably damaging 0.99
R1796:Slfn9 UTSW 11 82981955 missense probably benign 0.00
R1870:Slfn9 UTSW 11 82981576 missense probably benign
R1871:Slfn9 UTSW 11 82981576 missense probably benign
R2004:Slfn9 UTSW 11 82988201 missense probably benign 0.25
R2024:Slfn9 UTSW 11 82981681 missense probably damaging 1.00
R2106:Slfn9 UTSW 11 82987680 missense possibly damaging 0.89
R2140:Slfn9 UTSW 11 82984655 missense possibly damaging 0.76
R3004:Slfn9 UTSW 11 82981764 missense possibly damaging 0.94
R4293:Slfn9 UTSW 11 82982508 missense probably benign 0.01
R4927:Slfn9 UTSW 11 82981390 missense possibly damaging 0.47
R4950:Slfn9 UTSW 11 82981904 missense probably benign
R5471:Slfn9 UTSW 11 82982787 missense possibly damaging 0.85
R5543:Slfn9 UTSW 11 82982381 missense probably damaging 1.00
R5576:Slfn9 UTSW 11 82981432 missense probably benign
R5996:Slfn9 UTSW 11 82987484 missense possibly damaging 0.67
R7272:Slfn9 UTSW 11 82981561 missense probably benign 0.36
R7421:Slfn9 UTSW 11 82981371 nonsense probably null
R7421:Slfn9 UTSW 11 82987736 missense probably damaging 0.96
R7498:Slfn9 UTSW 11 82982187 missense probably damaging 0.98
R7788:Slfn9 UTSW 11 82982641 missense possibly damaging 0.85
R8286:Slfn9 UTSW 11 82981269 missense probably damaging 0.99
R8304:Slfn9 UTSW 11 82982779 missense probably benign 0.14
R8388:Slfn9 UTSW 11 82987286 missense probably benign
Z1176:Slfn9 UTSW 11 82982435 missense probably benign 0.01
Posted On2014-02-04