Incidental Mutation 'IGL01773:Slfn5'
ID153727
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slfn5
Ensembl Gene ENSMUSG00000054404
Gene Nameschlafen 5
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL01773
Quality Score
Status
Chromosome11
Chromosomal Location82951349-82964840 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 82961331 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 761 (E761V)
Ref Sequence ENSEMBL: ENSMUSP00000103792 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067443] [ENSMUST00000108157] [ENSMUST00000108158]
Predicted Effect probably damaging
Transcript: ENSMUST00000067443
AA Change: E761V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064819
Gene: ENSMUSG00000054404
AA Change: E761V

DomainStartEndE-ValueType
Pfam:AlbA_2 187 319 4.7e-13 PFAM
low complexity region 537 547 N/A INTRINSIC
Pfam:DUF2075 567 743 4.7e-8 PFAM
transmembrane domain 848 870 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108157
AA Change: E761V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103792
Gene: ENSMUSG00000054404
AA Change: E761V

DomainStartEndE-ValueType
Pfam:AAA_4 187 320 1.9e-15 PFAM
low complexity region 537 547 N/A INTRINSIC
Pfam:DUF2075 567 739 9.4e-9 PFAM
transmembrane domain 848 870 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108158
SMART Domains Protein: ENSMUSP00000103793
Gene: ENSMUSG00000054404

DomainStartEndE-ValueType
Pfam:AAA_4 187 320 3.4e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127074
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216469
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1s C A 1: 136,118,753 H1775Q probably benign Het
Calcrl A G 2: 84,370,443 Y86H probably benign Het
Ccdc63 T C 5: 122,113,145 K401E possibly damaging Het
Col9a1 A G 1: 24,205,066 T127A probably benign Het
Cpq T A 15: 33,212,850 F5Y probably benign Het
Cuzd1 T A 7: 131,314,885 M282L probably damaging Het
Ddx10 C A 9: 53,204,130 D635Y possibly damaging Het
Ect2l T C 10: 18,161,504 D382G probably damaging Het
Ganc T C 2: 120,459,884 S901P possibly damaging Het
Gpr179 G A 11: 97,341,366 R671C probably benign Het
Isl2 T C 9: 55,544,220 L219P probably damaging Het
Mfsd13a T C 19: 46,369,294 S296P possibly damaging Het
Mtmr7 A T 8: 40,581,419 L287Q probably damaging Het
Olfr1355 A G 10: 78,879,936 T255A possibly damaging Het
Olfr607 T G 7: 103,461,014 M60L possibly damaging Het
Olfr741 T C 14: 50,485,773 F105S probably damaging Het
Olfr945 A G 9: 39,258,534 I46T probably damaging Het
Pik3c3 T A 18: 30,277,102 F130I probably damaging Het
Rab3gap1 T A 1: 127,918,221 S277R possibly damaging Het
Rassf9 A G 10: 102,545,633 K290R probably benign Het
Rnaseh2a A T 8: 84,965,138 V136D probably damaging Het
Rnf39 C T 17: 36,945,436 S140L possibly damaging Het
Sbno2 A G 10: 80,057,831 V1212A probably damaging Het
Slc4a10 A T 2: 62,190,757 I50F probably damaging Het
Sptlc1 A G 13: 53,377,298 Y18H probably damaging Het
Tfam A G 10: 71,236,975 M9T possibly damaging Het
Tmem186 A G 16: 8,635,977 L140P probably damaging Het
Try4 A T 6: 41,305,026 N182I probably damaging Het
Vmn1r209 C T 13: 22,806,280 C80Y probably damaging Het
Vmn2r104 A T 17: 20,040,668 S498T probably benign Het
Other mutations in Slfn5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Slfn5 APN 11 82956981 missense probably damaging 0.97
IGL03026:Slfn5 APN 11 82956561 missense probably benign
IGL03368:Slfn5 APN 11 82956385 missense possibly damaging 0.88
R0531:Slfn5 UTSW 11 82961040 missense probably damaging 0.99
R0690:Slfn5 UTSW 11 82961403 missense probably damaging 1.00
R0939:Slfn5 UTSW 11 82961338 missense probably benign 0.04
R1005:Slfn5 UTSW 11 82960158 missense probably damaging 1.00
R1214:Slfn5 UTSW 11 82960091 missense probably benign 0.01
R1978:Slfn5 UTSW 11 82956616 missense probably benign 0.17
R4092:Slfn5 UTSW 11 82961067 missense probably damaging 1.00
R4620:Slfn5 UTSW 11 82961652 missense probably damaging 1.00
R4789:Slfn5 UTSW 11 82956400 missense probably benign 0.00
R5113:Slfn5 UTSW 11 82961696 missense probably benign 0.01
R5120:Slfn5 UTSW 11 82960928 missense probably damaging 1.00
R5262:Slfn5 UTSW 11 82956670 missense possibly damaging 0.56
R5307:Slfn5 UTSW 11 82956385 missense probably damaging 0.96
R5451:Slfn5 UTSW 11 82960086 missense probably damaging 1.00
R5498:Slfn5 UTSW 11 82957147 missense possibly damaging 0.84
R5651:Slfn5 UTSW 11 82960664 missense probably benign 0.00
R5777:Slfn5 UTSW 11 82961004 missense probably damaging 0.99
R5906:Slfn5 UTSW 11 82957276 missense probably benign 0.37
R5934:Slfn5 UTSW 11 82956592 missense probably damaging 1.00
R6521:Slfn5 UTSW 11 82960415 missense probably damaging 0.99
R6543:Slfn5 UTSW 11 82958666 splice site probably null
R6681:Slfn5 UTSW 11 82956378 missense possibly damaging 0.73
R7129:Slfn5 UTSW 11 82961150 nonsense probably null
R7309:Slfn5 UTSW 11 82956703 missense probably damaging 1.00
R7478:Slfn5 UTSW 11 82960616 missense probably damaging 1.00
R7573:Slfn5 UTSW 11 82958759 missense probably damaging 1.00
R7610:Slfn5 UTSW 11 82961484 missense probably damaging 1.00
R7834:Slfn5 UTSW 11 82960452 missense possibly damaging 0.88
R7917:Slfn5 UTSW 11 82960452 missense possibly damaging 0.88
R8205:Slfn5 UTSW 11 82960718 missense probably benign 0.04
R8264:Slfn5 UTSW 11 82956550 missense probably damaging 1.00
Posted On2014-02-04