Incidental Mutation 'IGL03286:Slfn8'
ID415728
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slfn8
Ensembl Gene ENSMUSG00000035208
Gene Nameschlafen 8
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL03286
Quality Score
Status
Chromosome11
Chromosomal Location83002158-83020810 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 83013468 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 365 (F365L)
Ref Sequence ENSEMBL: ENSMUSP00000114417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038141] [ENSMUST00000092838] [ENSMUST00000108152] [ENSMUST00000130822] [ENSMUST00000215239]
Predicted Effect probably damaging
Transcript: ENSMUST00000038141
AA Change: F365L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: F365L

DomainStartEndE-ValueType
Pfam:AAA_4 205 343 1.6e-18 PFAM
Pfam:DUF2075 592 766 5.8e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000092838
AA Change: F365L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: F365L

DomainStartEndE-ValueType
Pfam:AlbA_2 205 341 1.4e-17 PFAM
Pfam:DUF2075 592 767 2.2e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108152
AA Change: F365L

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103787
Gene: ENSMUSG00000035208
AA Change: F365L

DomainStartEndE-ValueType
Pfam:AAA_4 205 343 4.1e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000130822
AA Change: F365L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114417
Gene: ENSMUSG00000035208
AA Change: F365L

DomainStartEndE-ValueType
Pfam:AAA_4 205 343 3.7e-19 PFAM
SCOP:d1ly1a_ 593 625 4e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131883
SMART Domains Protein: ENSMUSP00000121831
Gene: ENSMUSG00000035208

DomainStartEndE-ValueType
Pfam:AlbA_2 27 163 1.8e-15 PFAM
SCOP:d1ly1a_ 370 402 2e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000215239
AA Change: F365L

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 G A 1: 58,049,384 G110S probably benign Het
Arhgap32 T C 9: 32,259,520 S1548P probably benign Het
Cacna1s A G 1: 136,077,659 D147G probably benign Het
Calcoco2 A G 11: 96,103,272 V116A possibly damaging Het
Chd5 A T 4: 152,385,495 M1842L probably benign Het
Comt T C 16: 18,411,740 D73G probably damaging Het
Ctnna1 A G 18: 35,175,153 I175M probably benign Het
Dnah6 A T 6: 73,083,085 Y2839N probably damaging Het
Dph7 T A 2: 24,966,616 H193Q probably damaging Het
Eif2b5 A G 16: 20,502,262 D258G probably damaging Het
Eml5 T C 12: 98,860,503 D630G probably damaging Het
Ext2 C T 2: 93,707,272 V590M probably damaging Het
Fchsd2 T C 7: 101,259,775 probably null Het
Gm13272 A G 4: 88,780,349 Q167R probably benign Het
Gm21834 A G 17: 57,741,927 V98A possibly damaging Het
Grid1 T A 14: 35,520,685 probably benign Het
H2-DMa T A 17: 34,137,109 probably null Het
Ighv5-17 T G 12: 113,859,177 E108A possibly damaging Het
Invs A G 4: 48,382,261 T144A probably benign Het
Ipo9 A G 1: 135,407,078 probably benign Het
Itga4 A T 2: 79,289,362 Y504F probably damaging Het
Krt5 A G 15: 101,707,548 F544S unknown Het
Larp4 A G 15: 99,986,086 Y67C probably damaging Het
Msh2 T C 17: 87,682,667 M261T possibly damaging Het
Nav1 A T 1: 135,454,536 C1367S probably benign Het
Nox4 T A 7: 87,370,141 probably benign Het
Noxa1 A G 2: 25,085,720 probably null Het
Olfr1450 A C 19: 12,954,168 Y193S probably benign Het
Olfr414 A C 1: 174,431,177 I250L probably benign Het
Pde4d T A 13: 109,954,506 probably benign Het
Pdlim2 C T 14: 70,174,476 G36S possibly damaging Het
Plekhm2 A G 4: 141,634,347 S262P possibly damaging Het
Pnpla6 C A 8: 3,531,473 T582K probably damaging Het
Rap1b A T 10: 117,818,575 L120* probably null Het
Rft1 C T 14: 30,661,366 T121I probably benign Het
Scn1a A G 2: 66,277,576 I1613T probably damaging Het
Slc47a2 T G 11: 61,342,467 E79A possibly damaging Het
Slc9a4 A G 1: 40,580,768 I85V probably null Het
Smcr8 T A 11: 60,778,027 probably benign Het
Sntb1 T C 15: 55,792,046 D258G possibly damaging Het
Sorbs1 A G 19: 40,344,414 I520T probably damaging Het
Sptbn2 T C 19: 4,747,832 S1896P probably damaging Het
Sptlc3 G A 2: 139,589,659 G367D probably damaging Het
Stab1 C T 14: 31,159,326 probably benign Het
Tars2 T C 3: 95,754,755 probably benign Het
Tchhl1 C T 3: 93,471,123 A378V probably benign Het
Tet3 A T 6: 83,375,778 F1012Y probably damaging Het
Tuba8 A G 6: 121,222,954 D199G possibly damaging Het
Vmn2r110 T A 17: 20,584,206 T151S possibly damaging Het
Xirp2 T C 2: 67,516,310 I2965T probably damaging Het
Zfp688 T A 7: 127,419,531 M141L probably benign Het
Other mutations in Slfn8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Slfn8 APN 11 83013484 missense possibly damaging 0.75
IGL01418:Slfn8 APN 11 83004636 missense probably damaging 1.00
IGL01620:Slfn8 APN 11 83004233 nonsense probably null
IGL01875:Slfn8 APN 11 83004079 missense probably benign 0.30
IGL01896:Slfn8 APN 11 83003696 missense probably damaging 1.00
IGL01929:Slfn8 APN 11 83003405 nonsense probably null
IGL02111:Slfn8 APN 11 83004498 missense probably damaging 1.00
IGL02136:Slfn8 APN 11 83003465 nonsense probably null
IGL02165:Slfn8 APN 11 83017196 missense probably benign 0.00
IGL02645:Slfn8 APN 11 83003554 missense possibly damaging 0.82
IGL02682:Slfn8 APN 11 83003691 missense probably damaging 1.00
IGL02689:Slfn8 APN 11 83017108 missense probably damaging 1.00
IGL02948:Slfn8 APN 11 83003252 missense probably damaging 0.99
IGL03037:Slfn8 APN 11 83003252 missense probably damaging 0.99
IGL03185:Slfn8 APN 11 83017507 missense probably benign 0.01
IGL03243:Slfn8 APN 11 83003707 missense probably damaging 1.00
R0295:Slfn8 UTSW 11 83003343 nonsense probably null
R0368:Slfn8 UTSW 11 83017132 missense probably damaging 1.00
R0382:Slfn8 UTSW 11 83004556 missense probably damaging 1.00
R0655:Slfn8 UTSW 11 83003821 missense probably benign 0.35
R0894:Slfn8 UTSW 11 83003581 missense probably benign 0.07
R1006:Slfn8 UTSW 11 83003511 missense possibly damaging 0.69
R1181:Slfn8 UTSW 11 83016745 missense probably benign 0.19
R1187:Slfn8 UTSW 11 83003488 missense probably damaging 1.00
R1501:Slfn8 UTSW 11 83003180 missense probably damaging 0.99
R1646:Slfn8 UTSW 11 83016886 missense probably damaging 1.00
R1909:Slfn8 UTSW 11 83003621 nonsense probably null
R2005:Slfn8 UTSW 11 83004150 missense probably damaging 1.00
R2363:Slfn8 UTSW 11 83004094 missense probably damaging 1.00
R3780:Slfn8 UTSW 11 83017454 missense probably benign 0.13
R3890:Slfn8 UTSW 11 83004444 missense possibly damaging 0.68
R3917:Slfn8 UTSW 11 83016993 nonsense probably null
R4559:Slfn8 UTSW 11 83004744 missense probably damaging 1.00
R4684:Slfn8 UTSW 11 83017506 missense probably benign 0.10
R4767:Slfn8 UTSW 11 83003197 missense possibly damaging 0.66
R4773:Slfn8 UTSW 11 83017393 missense probably damaging 1.00
R4859:Slfn8 UTSW 11 83017714 start codon destroyed probably null 0.99
R4916:Slfn8 UTSW 11 83016878 missense probably damaging 1.00
R4939:Slfn8 UTSW 11 83003285 missense probably benign 0.01
R5107:Slfn8 UTSW 11 83017150 missense probably damaging 0.99
R5130:Slfn8 UTSW 11 83003821 missense probably benign 0.35
R5165:Slfn8 UTSW 11 83017127 missense probably damaging 0.99
R5238:Slfn8 UTSW 11 83013388 missense probably damaging 0.96
R5282:Slfn8 UTSW 11 83017724 critical splice acceptor site probably null
R5311:Slfn8 UTSW 11 83004084 missense probably damaging 1.00
R5499:Slfn8 UTSW 11 83004216 missense probably damaging 0.99
R5617:Slfn8 UTSW 11 83004721 missense probably benign 0.01
R5782:Slfn8 UTSW 11 83017041 missense probably damaging 0.98
R5823:Slfn8 UTSW 11 83016736 missense probably benign 0.01
R5886:Slfn8 UTSW 11 83003334 missense probably benign 0.09
R5933:Slfn8 UTSW 11 83003335 missense probably benign 0.00
R6151:Slfn8 UTSW 11 83017321 missense probably damaging 1.00
R6163:Slfn8 UTSW 11 83003864 makesense probably null
R6191:Slfn8 UTSW 11 83016800 missense possibly damaging 0.72
R6419:Slfn8 UTSW 11 83004055 unclassified probably null
R6925:Slfn8 UTSW 11 83013417 nonsense probably null
R7065:Slfn8 UTSW 11 83016968 missense probably benign 0.01
X0021:Slfn8 UTSW 11 83016928 missense possibly damaging 0.69
Posted On2016-08-02