Incidental Mutation 'IGL01997:Slfn9'
ID182095
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: 0.072) question?
Stock #IGL01997
Quality Score
Status
Chromosome11
Chromosomal Location82978390-82991830 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 82987677 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 209 (I209V)
Ref Sequence ENSEMBL: ENSMUSP00000115273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038211] [ENSMUST00000092840] [ENSMUST00000138797]
Predicted Effect possibly damaging
Transcript: ENSMUST00000038211
AA Change: I209V

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000044435
Gene: ENSMUSG00000069793
AA Change: I209V

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 possibly damaging
Transcript: ENSMUST00000092840
AA Change: I209V

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000090515
Gene: ENSMUSG00000069793
AA Change: I209V

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 possibly damaging
Transcript: ENSMUST00000138797
AA Change: I209V

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115273
Gene: ENSMUSG00000069793
AA Change: I209V

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 G A 1: 179,755,462 T83I probably damaging Het
Aoah A T 13: 20,999,938 M391L probably benign Het
Apc A G 18: 34,315,423 T1757A probably benign Het
B4galt5 A G 2: 167,301,341 Y388H probably benign Het
Cyp3a25 A T 5: 145,994,956 M114K possibly damaging Het
Dcbld1 A G 10: 52,317,110 E246G probably damaging Het
Fstl4 T A 11: 53,163,054 Y404* probably null Het
Gnat3 G T 5: 17,999,723 E125* probably null Het
Hspa5 C T 2: 34,772,315 probably benign Het
Krt72 A G 15: 101,784,880 S200P probably damaging Het
Mab21l3 G A 3: 101,818,639 T347I probably damaging Het
Map2k7 A G 8: 4,243,442 E104G probably benign Het
Map3k9 T C 12: 81,772,697 D261G probably damaging Het
Mepe C T 5: 104,337,600 P202L probably damaging Het
Mill1 G A 7: 18,255,889 G32D probably damaging Het
Mmp20 T G 9: 7,639,260 M143R probably benign Het
Mms19 A T 19: 41,956,531 L302H probably damaging Het
Myh13 T A 11: 67,367,166 I1728K probably benign Het
Nsun2 C T 13: 69,623,246 P290L probably damaging Het
Nwd2 A T 5: 63,804,595 R507S probably damaging Het
Os9 T A 10: 127,119,443 H147L probably benign Het
Piezo1 T C 8: 122,488,331 probably benign Het
Plekhf1 A T 7: 38,221,328 V272D probably damaging Het
Pnisr T C 4: 21,871,537 I419T possibly damaging Het
Ppp1r3d G T 2: 178,413,654 T185K possibly damaging Het
Ppp2r2a C T 14: 67,016,519 S400N probably benign Het
Rpl21 T C 5: 146,835,608 I96T probably benign Het
S1pr3 C T 13: 51,419,715 R311W probably damaging Het
Senp5 T C 16: 31,963,470 K736R probably damaging Het
Traf3ip1 T A 1: 91,507,570 probably null Het
Tyk2 A G 9: 21,110,494 F879L probably damaging Het
Vmn2r53 T C 7: 12,582,446 D482G possibly damaging Het
Vmn2r65 A G 7: 84,940,770 F646S probably damaging Het
Vps13b T A 15: 35,709,224 S1772R probably damaging Het
Vwde C T 6: 13,215,706 C117Y probably damaging Het
Zfyve26 T C 12: 79,244,400 I2144V 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
IGL01778:Slfn9 APN 11 82987374 missense probably damaging 0.98
IGL01863:Slfn9 APN 11 82981325 missense probably benign 0.27
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
Posted On2014-05-07