Incidental Mutation 'R4773:Slfn8'
ID 367696
Institutional Source Beutler Lab
Gene Symbol Slfn8
Ensembl Gene ENSMUSG00000035208
Gene Name schlafen 8
Synonyms
MMRRC Submission 042411-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R4773 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 82892984-82911636 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82908219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 108 (V108A)
Ref Sequence ENSEMBL: ENSMUSP00000040060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038141] [ENSMUST00000092838] [ENSMUST00000108152] [ENSMUST00000130822] [ENSMUST00000215239]
AlphaFold B1ARD8
Predicted Effect probably damaging
Transcript: ENSMUST00000038141
AA Change: V108A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: V108A

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: V108A

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: V108A

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: V108A

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103787
Gene: ENSMUSG00000035208
AA Change: V108A

DomainStartEndE-ValueType
Pfam:AAA_4 205 343 4.1e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000130822
AA Change: V108A

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114417
Gene: ENSMUSG00000035208
AA Change: V108A

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: V108A

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.7052 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 100% (89/89)
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230009I02Rik A G 11: 50,982,089 (GRCm39) noncoding transcript Het
Actl7b T C 4: 56,740,972 (GRCm39) I129V probably benign Het
Adipor2 A G 6: 119,336,047 (GRCm39) L225P probably benign Het
Arhgap25 A G 6: 87,473,053 (GRCm39) F35L probably benign Het
Asah2 A T 19: 32,030,258 (GRCm39) M138K probably damaging Het
Asxl1 T A 2: 153,243,905 (GRCm39) M1486K probably damaging Het
B4galt4 T A 16: 38,572,658 (GRCm39) S114R probably benign Het
Brpf3 T G 17: 29,040,233 (GRCm39) S885A probably benign Het
Cacna1g G T 11: 94,302,298 (GRCm39) H1944N possibly damaging Het
Cby2 T A 14: 75,820,546 (GRCm39) Y393F probably damaging Het
Ccdc110 G A 8: 46,396,245 (GRCm39) C712Y probably damaging Het
Ccdc175 A T 12: 72,182,822 (GRCm39) I399N probably damaging Het
Cct8l1 A T 5: 25,722,754 (GRCm39) T490S probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Copa A G 1: 171,932,787 (GRCm39) N371D probably damaging Het
Cpeb1 A T 7: 81,005,695 (GRCm39) H381Q probably benign Het
Cyp2d40 T A 15: 82,645,763 (GRCm39) I81F possibly damaging Het
Dscc1 A T 15: 54,943,654 (GRCm39) D405E probably benign Het
Ece1 A G 4: 137,672,464 (GRCm39) D369G probably benign Het
Exd2 T C 12: 80,522,592 (GRCm39) V17A possibly damaging Het
Fam111a A T 19: 12,565,772 (GRCm39) N507I possibly damaging Het
Flnc T C 6: 29,445,038 (GRCm39) V719A possibly damaging Het
Fscb C T 12: 64,520,464 (GRCm39) G334D probably damaging Het
Glud1 T C 14: 34,043,782 (GRCm39) probably null Het
Gm8126 T A 14: 43,119,072 (GRCm39) Y180* probably null Het
Grip2 G A 6: 91,759,413 (GRCm39) P347L possibly damaging Het
H1f3 T C 13: 23,739,576 (GRCm39) S105P probably damaging Het
H60b C T 10: 22,164,644 (GRCm39) probably benign Het
Iqca1l A G 5: 24,755,596 (GRCm39) probably null Het
Itga6 T C 2: 71,652,788 (GRCm39) V217A probably benign Het
Kndc1 G A 7: 139,503,946 (GRCm39) W1083* probably null Het
Limch1 A T 5: 67,184,850 (GRCm39) D613V probably damaging Het
Lpl T A 8: 69,349,403 (GRCm39) C310S probably damaging Het
Marchf1 T A 8: 66,839,876 (GRCm39) C220S probably benign Het
Mbd5 A C 2: 49,164,623 (GRCm39) H308P probably damaging Het
Med13 T C 11: 86,167,746 (GRCm39) D2003G probably damaging Het
Mettl16 T A 11: 74,708,127 (GRCm39) V442D possibly damaging Het
Mstn A T 1: 53,101,267 (GRCm39) T115S probably benign Het
Mtcl2 G T 2: 156,872,489 (GRCm39) Q953K probably benign Het
Nfil3 A G 13: 53,122,050 (GRCm39) S285P probably damaging Het
Odad4 C A 11: 100,440,742 (GRCm39) N74K probably benign Het
Or10j3 A C 1: 173,031,796 (GRCm39) Y291S probably damaging Het
Or51a24 A G 7: 103,733,502 (GRCm39) S262P probably damaging Het
Otof A G 5: 30,552,026 (GRCm39) V321A probably benign Het
Pcdha8 G T 18: 37,127,626 (GRCm39) A703S probably damaging Het
Pcdhb18 A G 18: 37,623,507 (GRCm39) Y279C probably damaging Het
Pdgfa T C 5: 138,979,051 (GRCm39) D51G probably benign Het
Pdzd8 A G 19: 59,289,292 (GRCm39) Y703H probably damaging Het
Pecr G T 1: 72,306,594 (GRCm39) P229Q probably damaging Het
Phkg1 G T 5: 129,902,114 (GRCm39) probably null Het
Plxnb2 A T 15: 89,051,150 (GRCm39) H356Q probably benign Het
Polr1b T C 2: 128,947,248 (GRCm39) I191T probably benign Het
Ppp4r3a A G 12: 101,049,026 (GRCm39) L35P possibly damaging Het
Rasa2 C T 9: 96,426,470 (GRCm39) G792D probably benign Het
Rps11-ps4 T C 12: 51,344,406 (GRCm39) noncoding transcript Het
Sema3g A G 14: 30,942,666 (GRCm39) D89G probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Smg9 T A 7: 24,107,019 (GRCm39) M221K possibly damaging Het
Sos1 A G 17: 80,705,660 (GRCm39) S1304P probably damaging Het
Sqle C A 15: 59,189,688 (GRCm39) A110E possibly damaging Het
Stab2 G A 10: 86,743,235 (GRCm39) Q1154* probably null Het
Taf4b A G 18: 14,937,577 (GRCm39) T217A probably benign Het
Tex15 T C 8: 34,072,760 (GRCm39) V2769A probably benign Het
Tmem156 A T 5: 65,237,502 (GRCm39) C53S probably damaging Het
Tmtc3 T A 10: 100,293,001 (GRCm39) K452N possibly damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tph1 T C 7: 46,306,376 (GRCm39) E195G probably damaging Het
Trpc6 T A 9: 8,609,852 (GRCm39) Y107N possibly damaging Het
Tsga10 G A 1: 37,874,606 (GRCm39) T93I probably damaging Het
Ttn T A 2: 76,571,778 (GRCm39) N26372Y probably damaging Het
Tubd1 T C 11: 86,446,128 (GRCm39) L256P possibly damaging Het
Txnrd2 C G 16: 18,259,569 (GRCm39) A126G probably benign Het
Vmn1r210 T G 13: 23,011,374 (GRCm39) K304T probably benign Het
Vps25 T C 11: 101,149,655 (GRCm39) S160P probably benign Het
Vrk3 T A 7: 44,424,900 (GRCm39) D438E probably benign Het
Vwa5b1 A G 4: 138,309,066 (GRCm39) L708P probably benign Het
Washc3 C T 10: 88,055,124 (GRCm39) Q105* probably null Het
Wdr83os T A 8: 85,807,410 (GRCm39) probably benign Het
Wwc1 T C 11: 35,758,123 (GRCm39) H741R probably benign Het
Zan T C 5: 137,434,575 (GRCm39) probably benign Het
Zdhhc4 A T 5: 143,311,931 (GRCm39) L14I possibly damaging Het
Zfp568 T A 7: 29,697,195 (GRCm39) D38E probably damaging Het
Other mutations in Slfn8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Slfn8 APN 11 82,904,310 (GRCm39) missense possibly damaging 0.75
IGL01418:Slfn8 APN 11 82,895,462 (GRCm39) missense probably damaging 1.00
IGL01620:Slfn8 APN 11 82,895,059 (GRCm39) nonsense probably null
IGL01875:Slfn8 APN 11 82,894,905 (GRCm39) missense probably benign 0.30
IGL01896:Slfn8 APN 11 82,894,522 (GRCm39) missense probably damaging 1.00
IGL01929:Slfn8 APN 11 82,894,231 (GRCm39) nonsense probably null
IGL02111:Slfn8 APN 11 82,895,324 (GRCm39) missense probably damaging 1.00
IGL02136:Slfn8 APN 11 82,894,291 (GRCm39) nonsense probably null
IGL02165:Slfn8 APN 11 82,908,022 (GRCm39) missense probably benign 0.00
IGL02645:Slfn8 APN 11 82,894,380 (GRCm39) missense possibly damaging 0.82
IGL02682:Slfn8 APN 11 82,894,517 (GRCm39) missense probably damaging 1.00
IGL02689:Slfn8 APN 11 82,907,934 (GRCm39) missense probably damaging 1.00
IGL02948:Slfn8 APN 11 82,894,078 (GRCm39) missense probably damaging 0.99
IGL03037:Slfn8 APN 11 82,894,078 (GRCm39) missense probably damaging 0.99
IGL03185:Slfn8 APN 11 82,908,333 (GRCm39) missense probably benign 0.01
IGL03243:Slfn8 APN 11 82,894,533 (GRCm39) missense probably damaging 1.00
IGL03286:Slfn8 APN 11 82,904,294 (GRCm39) missense probably damaging 0.99
seven_dwarfs UTSW 11 82,894,160 (GRCm39) missense probably benign 0.09
vanwinkle UTSW 11 82,908,219 (GRCm39) missense probably damaging 1.00
R0295:Slfn8 UTSW 11 82,894,169 (GRCm39) nonsense probably null
R0368:Slfn8 UTSW 11 82,907,958 (GRCm39) missense probably damaging 1.00
R0382:Slfn8 UTSW 11 82,895,382 (GRCm39) missense probably damaging 1.00
R0655:Slfn8 UTSW 11 82,894,647 (GRCm39) missense probably benign 0.35
R0894:Slfn8 UTSW 11 82,894,407 (GRCm39) missense probably benign 0.07
R1006:Slfn8 UTSW 11 82,894,337 (GRCm39) missense possibly damaging 0.69
R1181:Slfn8 UTSW 11 82,907,571 (GRCm39) missense probably benign 0.19
R1187:Slfn8 UTSW 11 82,894,314 (GRCm39) missense probably damaging 1.00
R1501:Slfn8 UTSW 11 82,894,006 (GRCm39) missense probably damaging 0.99
R1646:Slfn8 UTSW 11 82,907,712 (GRCm39) missense probably damaging 1.00
R1909:Slfn8 UTSW 11 82,894,447 (GRCm39) nonsense probably null
R2005:Slfn8 UTSW 11 82,894,976 (GRCm39) missense probably damaging 1.00
R2363:Slfn8 UTSW 11 82,894,920 (GRCm39) missense probably damaging 1.00
R3780:Slfn8 UTSW 11 82,908,280 (GRCm39) missense probably benign 0.13
R3890:Slfn8 UTSW 11 82,895,270 (GRCm39) missense possibly damaging 0.68
R3917:Slfn8 UTSW 11 82,907,819 (GRCm39) nonsense probably null
R4559:Slfn8 UTSW 11 82,895,570 (GRCm39) missense probably damaging 1.00
R4684:Slfn8 UTSW 11 82,908,332 (GRCm39) missense probably benign 0.10
R4767:Slfn8 UTSW 11 82,894,023 (GRCm39) missense possibly damaging 0.66
R4859:Slfn8 UTSW 11 82,908,540 (GRCm39) start codon destroyed probably null 0.99
R4916:Slfn8 UTSW 11 82,907,704 (GRCm39) missense probably damaging 1.00
R4939:Slfn8 UTSW 11 82,894,111 (GRCm39) missense probably benign 0.01
R5107:Slfn8 UTSW 11 82,907,976 (GRCm39) missense probably damaging 0.99
R5130:Slfn8 UTSW 11 82,894,647 (GRCm39) missense probably benign 0.35
R5165:Slfn8 UTSW 11 82,907,953 (GRCm39) missense probably damaging 0.99
R5238:Slfn8 UTSW 11 82,904,214 (GRCm39) missense probably damaging 0.96
R5282:Slfn8 UTSW 11 82,908,550 (GRCm39) critical splice acceptor site probably null
R5311:Slfn8 UTSW 11 82,894,910 (GRCm39) missense probably damaging 1.00
R5499:Slfn8 UTSW 11 82,895,042 (GRCm39) missense probably damaging 0.99
R5617:Slfn8 UTSW 11 82,895,547 (GRCm39) missense probably benign 0.01
R5782:Slfn8 UTSW 11 82,907,867 (GRCm39) missense probably damaging 0.98
R5823:Slfn8 UTSW 11 82,907,562 (GRCm39) missense probably benign 0.01
R5886:Slfn8 UTSW 11 82,894,160 (GRCm39) missense probably benign 0.09
R5933:Slfn8 UTSW 11 82,894,161 (GRCm39) missense probably benign 0.00
R6151:Slfn8 UTSW 11 82,908,147 (GRCm39) missense probably damaging 1.00
R6163:Slfn8 UTSW 11 82,894,690 (GRCm39) makesense probably null
R6191:Slfn8 UTSW 11 82,907,626 (GRCm39) missense possibly damaging 0.72
R6419:Slfn8 UTSW 11 82,894,881 (GRCm39) splice site probably null
R6925:Slfn8 UTSW 11 82,904,243 (GRCm39) nonsense probably null
R7065:Slfn8 UTSW 11 82,907,794 (GRCm39) missense probably benign 0.01
R7380:Slfn8 UTSW 11 82,894,566 (GRCm39) missense not run
R7414:Slfn8 UTSW 11 82,907,618 (GRCm39) nonsense probably null
R7819:Slfn8 UTSW 11 82,895,081 (GRCm39) missense probably damaging 1.00
R8425:Slfn8 UTSW 11 82,895,441 (GRCm39) missense possibly damaging 0.80
R8517:Slfn8 UTSW 11 82,894,968 (GRCm39) missense possibly damaging 0.68
R8804:Slfn8 UTSW 11 82,907,639 (GRCm39) missense possibly damaging 0.94
R8814:Slfn8 UTSW 11 82,907,505 (GRCm39) missense possibly damaging 0.95
R9069:Slfn8 UTSW 11 82,907,902 (GRCm39) missense probably damaging 1.00
R9233:Slfn8 UTSW 11 82,894,422 (GRCm39) missense probably damaging 1.00
R9457:Slfn8 UTSW 11 82,908,532 (GRCm39) missense probably benign
R9678:Slfn8 UTSW 11 82,907,723 (GRCm39) missense probably damaging 1.00
R9708:Slfn8 UTSW 11 82,894,267 (GRCm39) missense probably benign 0.00
R9764:Slfn8 UTSW 11 82,907,838 (GRCm39) missense probably damaging 1.00
X0021:Slfn8 UTSW 11 82,907,754 (GRCm39) missense possibly damaging 0.69
Z1177:Slfn8 UTSW 11 82,894,359 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- GCTGTTCTGACACATGGCTC -3'
(R):5'- GGCTGCTTGTGCTCTGTTAAAC -3'

Sequencing Primer
(F):5'- GACACATGGCTCTCGGAATTTTAGC -3'
(R):5'- GCTCTGTTAAACTCTGGAGGAG -3'
Posted On 2015-12-29