Incidental Mutation 'R1187:Slfn8'
ID 102283
Institutional Source Beutler Lab
Gene Symbol Slfn8
Ensembl Gene ENSMUSG00000035208
Gene Name schlafen 8
Synonyms
MMRRC Submission 039259-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R1187 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 82892984-82911636 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 82894314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 775 (V775E)
Ref Sequence ENSEMBL: ENSMUSP00000090513 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038141] [ENSMUST00000092838] [ENSMUST00000108152] [ENSMUST00000130822] [ENSMUST00000215239]
AlphaFold B1ARD8
Predicted Effect probably damaging
Transcript: ENSMUST00000038141
AA Change: V775E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: V775E

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: V775E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: V775E

DomainStartEndE-ValueType
Pfam:AlbA_2 205 341 1.4e-17 PFAM
Pfam:DUF2075 592 767 2.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108152
SMART Domains Protein: ENSMUSP00000103787
Gene: ENSMUSG00000035208

DomainStartEndE-ValueType
Pfam:AAA_4 205 343 4.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130822
SMART Domains Protein: ENSMUSP00000114417
Gene: ENSMUSG00000035208

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 probably benign
Transcript: ENSMUST00000215239
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.1%
  • 20x: 89.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G T 11: 9,478,981 (GRCm39) M4276I probably benign Het
Apol7b A T 15: 77,307,603 (GRCm39) F297L possibly damaging Het
Capsl C T 15: 9,457,807 (GRCm39) R9W probably damaging Het
Catsperb T C 12: 101,591,991 (GRCm39) V1107A probably benign Het
Cip2a T A 16: 48,820,656 (GRCm39) N132K probably damaging Het
Clca3a1 T C 3: 144,715,504 (GRCm39) I544M probably benign Het
Cma2 T C 14: 56,210,280 (GRCm39) V55A probably benign Het
Col10a1 A T 10: 34,270,834 (GRCm39) I269F probably benign Het
Col26a1 G A 5: 136,773,020 (GRCm39) H385Y probably damaging Het
Ctdp1 A G 18: 80,492,702 (GRCm39) Y598H probably damaging Het
Dnajc1 A G 2: 18,289,520 (GRCm39) S296P probably benign Het
Dvl2 A T 11: 69,896,962 (GRCm39) T250S probably benign Het
Etv1 A G 12: 38,915,563 (GRCm39) Y410C probably damaging Het
Krcc1 A T 6: 71,261,612 (GRCm39) K215* probably null Het
Lrr1 A T 12: 69,221,796 (GRCm39) T313S probably benign Het
Lrrc7 T A 3: 157,866,039 (GRCm39) E1234V probably damaging Het
Mepe G A 5: 104,486,114 (GRCm39) R418H probably damaging Het
Myrfl G A 10: 116,667,447 (GRCm39) T331I probably damaging Het
Nbeal1 T C 1: 60,233,687 (GRCm39) W26R probably damaging Het
Nsrp1 G A 11: 76,936,853 (GRCm39) P448S probably benign Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Olfml2a A G 2: 38,849,825 (GRCm39) N514D probably damaging Het
Or2l5 T C 16: 19,333,796 (GRCm39) T197A probably benign Het
Or2y17 T G 11: 49,231,417 (GRCm39) D19E probably damaging Het
Pcdhb1 C T 18: 37,398,597 (GRCm39) R183C probably damaging Het
Phf14 T G 6: 11,941,495 (GRCm39) C41G probably damaging Het
Pkhd1l1 T C 15: 44,361,447 (GRCm39) V499A possibly damaging Het
Plcb4 A G 2: 135,810,314 (GRCm39) I638V probably benign Het
Ppp4c T A 7: 126,385,372 (GRCm39) I296F probably benign Het
Prkdc T C 16: 15,577,610 (GRCm39) V2388A probably damaging Het
Rgl1 T C 1: 152,420,184 (GRCm39) D353G probably benign Het
Rnf19b T G 4: 128,969,360 (GRCm39) probably null Het
Ryr3 C T 2: 112,788,521 (GRCm39) D190N probably damaging Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sema3e G A 5: 14,282,098 (GRCm39) M411I probably damaging Het
Sgsh A T 11: 119,237,404 (GRCm39) Y403* probably null Het
Sh2d7 T A 9: 54,448,471 (GRCm39) L164Q probably benign Het
Smgc G A 15: 91,744,798 (GRCm39) G287S probably damaging Het
Soat1 T A 1: 156,261,745 (GRCm39) Y421F probably damaging Het
Sri T C 5: 8,109,416 (GRCm39) Y52H probably damaging Het
Stat4 C A 1: 52,115,836 (GRCm39) Q259K probably damaging Het
Trpm5 A G 7: 142,628,206 (GRCm39) L1023P probably damaging Het
Ush1c T A 7: 45,858,338 (GRCm39) N650I probably benign Het
Vmn2r8 G T 5: 108,951,085 (GRCm39) S120* probably null Het
Zbed6 G A 1: 133,586,941 (GRCm39) T132I probably damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp629 A G 7: 127,209,401 (GRCm39) S803P probably benign Het
Zfp629 T C 7: 127,211,059 (GRCm39) K250R probably damaging Het
Zfp758 T A 17: 22,594,171 (GRCm39) I187N probably benign Het
Zfp85 T A 13: 67,897,835 (GRCm39) K79I 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
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
R4773:Slfn8 UTSW 11 82,908,219 (GRCm39) missense probably damaging 1.00
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'- CTTTCCAGTCCTGAGAATCGACGG -3'
(R):5'- TCACGCCAGTATCCAAGGGAAGAG -3'

Sequencing Primer
(F):5'- TCGACGGATGCTGTCAAAC -3'
(R):5'- GCTCACACAAGTAGTACGCAATG -3'
Posted On 2014-01-15