Incidental Mutation 'IGL00500:Slfn8'
ID88892
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: 0.060) question?
Stock #IGL00500
Quality Score
Status
Chromosome11
Chromosomal Location83002158-83020810 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 83013484 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 360 (D360V)
Ref Sequence ENSEMBL: ENSMUSP00000149800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038141] [ENSMUST00000092838] [ENSMUST00000108152] [ENSMUST00000130822] [ENSMUST00000215239]
Predicted Effect possibly damaging
Transcript: ENSMUST00000038141
AA Change: D360V

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: D360V

DomainStartEndE-ValueType
Pfam:AAA_4 205 343 1.6e-18 PFAM
Pfam:DUF2075 592 766 5.8e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000092838
AA Change: D360V

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: D360V

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: D360V

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103787
Gene: ENSMUSG00000035208
AA Change: D360V

DomainStartEndE-ValueType
Pfam:AAA_4 205 343 4.1e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000130822
AA Change: D360V

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114417
Gene: ENSMUSG00000035208
AA Change: D360V

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: D360V

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 A G 7: 119,784,344 E576G probably damaging Het
Adnp A G 2: 168,183,323 V684A possibly damaging Het
Agl A G 3: 116,772,820 W965R probably damaging Het
AI467606 G A 7: 127,092,333 V27I probably benign Het
Ankrd34b G A 13: 92,438,787 G176R probably benign Het
Atp2a1 C T 7: 126,447,216 W72* probably null Het
Atp6v1a T C 16: 44,111,583 Q114R probably benign Het
B4galt2 A T 4: 117,877,181 L257Q probably damaging Het
Chrna10 A T 7: 102,112,408 C325* probably null Het
Clip2 A G 5: 134,500,157 probably benign Het
Crocc2 C T 1: 93,217,044 Q1437* probably null Het
Csmd1 C T 8: 15,921,139 V3059M probably damaging Het
Cst10 C A 2: 149,405,581 S72R probably damaging Het
Dapk1 A G 13: 60,760,804 D1077G probably damaging Het
Dhx9 T C 1: 153,465,748 T585A probably damaging Het
Fam210a G A 18: 68,275,783 T152I possibly damaging Het
Fbn1 T A 2: 125,317,516 Q2214L probably damaging Het
Fpr1 T A 17: 17,877,001 Q242L probably benign Het
G2e3 A G 12: 51,353,798 probably null Het
Gcdh C T 8: 84,888,517 probably benign Het
Gm18856 T C 13: 13,965,734 probably benign Het
Itgb2 T A 10: 77,564,724 W724R probably damaging Het
Klhl2 T C 8: 64,749,086 T519A probably benign Het
Krtap12-1 G T 10: 77,720,980 C119F possibly damaging Het
Nrap T A 19: 56,372,909 K369N probably damaging Het
Nrg1 T A 8: 31,822,314 probably null Het
Plekhh3 T A 11: 101,165,693 probably null Het
Ppm1b A G 17: 85,003,284 S289G probably damaging Het
Prol1 A T 5: 88,328,691 *313C probably null Het
Rab40c T C 17: 25,885,085 E111G probably damaging Het
Skint11 T A 4: 114,194,709 C85S probably benign Het
Slc9a2 G A 1: 40,763,583 E598K possibly damaging Het
Sspo C A 6: 48,497,421 C4925* probably null Het
Vps8 A G 16: 21,442,334 T75A possibly damaging Het
Wfdc12 A T 2: 164,190,250 I40N probably damaging Het
Zfp608 T A 18: 54,988,333 T61S probably benign Het
Other mutations in Slfn8
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03286:Slfn8 APN 11 83013468 missense probably damaging 0.99
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 splice site probably null
R6925:Slfn8 UTSW 11 83013417 nonsense probably null
R7065:Slfn8 UTSW 11 83016968 missense probably benign 0.01
R7380:Slfn8 UTSW 11 83003740 missense not run
R7414:Slfn8 UTSW 11 83016792 nonsense probably null
R7819:Slfn8 UTSW 11 83004255 missense probably damaging 1.00
R8425:Slfn8 UTSW 11 83004615 missense possibly damaging 0.80
R8517:Slfn8 UTSW 11 83004142 missense possibly damaging 0.68
X0021:Slfn8 UTSW 11 83016928 missense possibly damaging 0.69
Z1177:Slfn8 UTSW 11 83003533 missense probably benign 0.11
Posted On2013-12-03