Incidental Mutation 'R6925:Slfn8'
ID 541109
Institutional Source Beutler Lab
Gene Symbol Slfn8
Ensembl Gene ENSMUSG00000035208
Gene Name schlafen 8
Synonyms
MMRRC Submission 045043-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R6925 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 83002158-83020810 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 83013417 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 382 (Y382*)
Ref Sequence ENSEMBL: ENSMUSP00000149800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038141] [ENSMUST00000092838] [ENSMUST00000108152] [ENSMUST00000130822] [ENSMUST00000215239]
AlphaFold B1ARD8
Predicted Effect probably null
Transcript: ENSMUST00000038141
AA Change: Y382*
SMART Domains Protein: ENSMUSP00000040060
Gene: ENSMUSG00000035208
AA Change: Y382*

DomainStartEndE-ValueType
Pfam:AAA_4 205 343 1.6e-18 PFAM
Pfam:DUF2075 592 766 5.8e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000092838
AA Change: Y382*
SMART Domains Protein: ENSMUSP00000090513
Gene: ENSMUSG00000035208
AA Change: Y382*

DomainStartEndE-ValueType
Pfam:AlbA_2 205 341 1.4e-17 PFAM
Pfam:DUF2075 592 767 2.2e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108152
AA Change: Y382*
SMART Domains Protein: ENSMUSP00000103787
Gene: ENSMUSG00000035208
AA Change: Y382*

DomainStartEndE-ValueType
Pfam:AAA_4 205 343 4.1e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000130822
AA Change: Y382*
SMART Domains Protein: ENSMUSP00000114417
Gene: ENSMUSG00000035208
AA Change: Y382*

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 null
Transcript: ENSMUST00000215239
AA Change: Y382*
Meta Mutation Damage Score 0.9645 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (91/91)
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A G 7: 131,222,707 (GRCm38) Q177R possibly damaging Het
Acat1 A T 9: 53,592,029 (GRCm38) V170E probably benign Het
Atp2b2 T A 6: 113,760,720 (GRCm38) I902F probably damaging Het
Cacna1d A G 14: 30,051,637 (GRCm38) V1697A probably benign Het
Ccdc14 T A 16: 34,690,749 (GRCm38) F31Y probably benign Het
Ccdc17 T A 4: 116,598,210 (GRCm38) V250E probably damaging Het
Cct7 A G 6: 85,459,182 (GRCm38) N25S probably damaging Het
Cep19 G C 16: 32,103,942 (GRCm38) G9R probably damaging Het
Ces5a A T 8: 93,523,057 (GRCm38) probably null Het
Chd1l T G 3: 97,582,826 (GRCm38) E471A probably damaging Het
Chd6 A G 2: 161,013,127 (GRCm38) I787T probably damaging Het
Cntnap5c A C 17: 58,395,266 (GRCm38) T1194P probably benign Het
Col6a3 T A 1: 90,816,002 (GRCm38) M208L probably benign Het
Coro7 A T 16: 4,628,674 (GRCm38) probably null Het
Csrnp2 T C 15: 100,481,958 (GRCm38) K484R probably benign Het
Cyp2c39 T A 19: 39,513,195 (GRCm38) V64E probably damaging Het
Ddr2 T C 1: 169,998,132 (GRCm38) K300E probably benign Het
Ddx56 T C 11: 6,263,980 (GRCm38) E393G probably damaging Het
Diaph1 A C 18: 37,853,679 (GRCm38) Y1084* probably null Het
Disp1 A T 1: 183,086,478 (GRCm38) F1459L probably benign Het
Dnajc8 G A 4: 132,544,113 (GRCm38) A80T probably damaging Het
Elfn1 T A 5: 139,971,685 (GRCm38) M148K probably benign Het
Emcn T A 3: 137,419,002 (GRCm38) I154N probably damaging Het
Enah T A 1: 181,905,899 (GRCm38) probably null Het
Enah C G 1: 181,905,898 (GRCm38) probably null Het
Ep300 C A 15: 81,649,981 (GRCm38) Q2080K probably benign Het
Epha2 T A 4: 141,308,757 (GRCm38) M168K probably benign Het
Ercc6 T A 14: 32,562,608 (GRCm38) I776N probably damaging Het
Fan1 T A 7: 64,372,486 (GRCm38) N340Y probably damaging Het
Fat4 G T 3: 38,996,204 (GRCm38) probably null Het
G3bp1 A G 11: 55,497,960 (GRCm38) R333G possibly damaging Het
Gm3604 A G 13: 62,369,390 (GRCm38) F385L probably benign Het
Gm5800 T C 14: 51,713,700 (GRCm38) I147M possibly damaging Het
Hipk1 A G 3: 103,778,245 (GRCm38) F18S unknown Het
Ighv3-8 A T 12: 114,322,330 (GRCm38) C131S probably benign Het
Il23r T G 6: 67,423,493 (GRCm38) T618P probably damaging Het
Il31ra G A 13: 112,527,529 (GRCm38) T538I possibly damaging Het
Kcns2 A G 15: 34,839,913 (GRCm38) D474G unknown Het
Klc4 T C 17: 46,636,229 (GRCm38) T407A possibly damaging Het
Klra5 C T 6: 129,911,457 (GRCm38) S2N probably benign Het
Krt10 T C 11: 99,388,851 (GRCm38) Y161C probably damaging Het
Kxd1 A T 8: 70,523,278 (GRCm38) M1K probably null Het
Lgals1 A C 15: 78,928,040 (GRCm38) D27A possibly damaging Het
Lgr5 T C 10: 115,466,346 (GRCm38) S308G probably benign Het
Lrp1 G A 10: 127,556,988 (GRCm38) S2736L probably benign Het
Lrpap1 G T 5: 35,102,536 (GRCm38) H73N probably benign Het
Mcpt1 C A 14: 56,019,065 (GRCm38) T86K probably damaging Het
Megf6 A T 4: 154,254,587 (GRCm38) D527V probably damaging Het
Mical3 A T 6: 120,959,390 (GRCm38) S1392T probably benign Het
Mmp2 A T 8: 92,839,382 (GRCm38) D437V probably damaging Het
Mob4 T A 1: 55,152,722 (GRCm38) Y166* probably null Het
Mrap2 G A 9: 87,182,474 (GRCm38) M89I possibly damaging Het
Mug1 G A 6: 121,881,787 (GRCm38) A1155T probably damaging Het
Myh2 G T 11: 67,193,218 (GRCm38) A1556S probably benign Het
Nfatc3 A G 8: 106,119,322 (GRCm38) D1028G probably benign Het
Ngef T G 1: 87,503,263 (GRCm38) probably null Het
Nlrp1a A T 11: 71,092,513 (GRCm38) L1209Q probably null Het
Npr2 C T 4: 43,647,553 (GRCm38) R819C probably damaging Het
Nsd2 A T 5: 33,879,110 (GRCm38) D646V probably damaging Het
Nsun7 A G 5: 66,277,072 (GRCm38) H252R probably damaging Het
Olfr267 A T 4: 58,785,647 (GRCm38) I25N possibly damaging Het
Olfr447 T A 6: 42,911,857 (GRCm38) C111* probably null Het
Olfr642 C T 7: 104,049,740 (GRCm38) V205I probably benign Het
Olfr951 A T 9: 39,393,860 (GRCm38) Q20L probably benign Het
Olfr951 G T 9: 39,393,861 (GRCm38) Q20H probably benign Het
Pcdhga2 A T 18: 37,670,585 (GRCm38) D494V probably damaging Het
Pcsk2 A G 2: 143,813,747 (GRCm38) E617G probably damaging Het
Pdc T C 1: 150,333,180 (GRCm38) I138T probably damaging Het
Phc2 T A 4: 128,748,134 (GRCm38) S750T probably damaging Het
Pkd2l1 T A 19: 44,191,508 (GRCm38) N88Y possibly damaging Het
Plcl1 C T 1: 55,406,598 (GRCm38) R71* probably null Het
Prag1 C A 8: 36,103,894 (GRCm38) L544M probably damaging Het
Prkg2 A G 5: 98,966,510 (GRCm38) probably null Het
Psd2 G A 18: 35,979,711 (GRCm38) S153N probably damaging Het
Rab11fip1 A T 8: 27,152,972 (GRCm38) S600T probably damaging Het
Rbms1 T G 2: 60,762,304 (GRCm38) T222P probably benign Het
Socs4 T A 14: 47,289,738 (GRCm38) C43* probably null Het
Sorl1 T A 9: 42,033,626 (GRCm38) T868S probably damaging Het
St6gal1 A G 16: 23,356,213 (GRCm38) Y267C probably damaging Het
Syne1 A G 10: 5,126,682 (GRCm38) V6879A probably benign Het
Syne2 C A 12: 75,854,132 (GRCm38) H22N possibly damaging Het
Tmeff2 T A 1: 50,928,021 (GRCm38) L25Q probably damaging Het
Tmprss11g G T 5: 86,487,426 (GRCm38) D396E probably benign Het
Tmprss11g T A 5: 86,487,436 (GRCm38) H393L probably benign Het
Vmn2r23 A G 6: 123,704,553 (GRCm38) E140G probably damaging Het
Wapl T C 14: 34,677,363 (GRCm38) S130P probably benign Het
Zeb2 T A 2: 44,994,529 (GRCm38) K982M probably damaging Het
Zfhx3 C G 8: 108,956,821 (GRCm38) H3631D unknown Het
Zfp719 T C 7: 43,590,706 (GRCm38) S573P probably damaging Het
Zfp979 A T 4: 147,613,542 (GRCm38) C237S possibly damaging Het
Other mutations in Slfn8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Slfn8 APN 11 83,013,484 (GRCm38) missense possibly damaging 0.75
IGL01418:Slfn8 APN 11 83,004,636 (GRCm38) missense probably damaging 1.00
IGL01620:Slfn8 APN 11 83,004,233 (GRCm38) nonsense probably null
IGL01875:Slfn8 APN 11 83,004,079 (GRCm38) missense probably benign 0.30
IGL01896:Slfn8 APN 11 83,003,696 (GRCm38) missense probably damaging 1.00
IGL01929:Slfn8 APN 11 83,003,405 (GRCm38) nonsense probably null
IGL02111:Slfn8 APN 11 83,004,498 (GRCm38) missense probably damaging 1.00
IGL02136:Slfn8 APN 11 83,003,465 (GRCm38) nonsense probably null
IGL02165:Slfn8 APN 11 83,017,196 (GRCm38) missense probably benign 0.00
IGL02645:Slfn8 APN 11 83,003,554 (GRCm38) missense possibly damaging 0.82
IGL02682:Slfn8 APN 11 83,003,691 (GRCm38) missense probably damaging 1.00
IGL02689:Slfn8 APN 11 83,017,108 (GRCm38) missense probably damaging 1.00
IGL02948:Slfn8 APN 11 83,003,252 (GRCm38) missense probably damaging 0.99
IGL03037:Slfn8 APN 11 83,003,252 (GRCm38) missense probably damaging 0.99
IGL03185:Slfn8 APN 11 83,017,507 (GRCm38) missense probably benign 0.01
IGL03243:Slfn8 APN 11 83,003,707 (GRCm38) missense probably damaging 1.00
IGL03286:Slfn8 APN 11 83,013,468 (GRCm38) missense probably damaging 0.99
seven_dwarfs UTSW 11 83,003,334 (GRCm38) missense probably benign 0.09
vanwinkle UTSW 11 83,017,393 (GRCm38) missense probably damaging 1.00
R0295:Slfn8 UTSW 11 83,003,343 (GRCm38) nonsense probably null
R0368:Slfn8 UTSW 11 83,017,132 (GRCm38) missense probably damaging 1.00
R0382:Slfn8 UTSW 11 83,004,556 (GRCm38) missense probably damaging 1.00
R0655:Slfn8 UTSW 11 83,003,821 (GRCm38) missense probably benign 0.35
R0894:Slfn8 UTSW 11 83,003,581 (GRCm38) missense probably benign 0.07
R1006:Slfn8 UTSW 11 83,003,511 (GRCm38) missense possibly damaging 0.69
R1181:Slfn8 UTSW 11 83,016,745 (GRCm38) missense probably benign 0.19
R1187:Slfn8 UTSW 11 83,003,488 (GRCm38) missense probably damaging 1.00
R1501:Slfn8 UTSW 11 83,003,180 (GRCm38) missense probably damaging 0.99
R1646:Slfn8 UTSW 11 83,016,886 (GRCm38) missense probably damaging 1.00
R1909:Slfn8 UTSW 11 83,003,621 (GRCm38) nonsense probably null
R2005:Slfn8 UTSW 11 83,004,150 (GRCm38) missense probably damaging 1.00
R2363:Slfn8 UTSW 11 83,004,094 (GRCm38) missense probably damaging 1.00
R3780:Slfn8 UTSW 11 83,017,454 (GRCm38) missense probably benign 0.13
R3890:Slfn8 UTSW 11 83,004,444 (GRCm38) missense possibly damaging 0.68
R3917:Slfn8 UTSW 11 83,016,993 (GRCm38) nonsense probably null
R4559:Slfn8 UTSW 11 83,004,744 (GRCm38) missense probably damaging 1.00
R4684:Slfn8 UTSW 11 83,017,506 (GRCm38) missense probably benign 0.10
R4767:Slfn8 UTSW 11 83,003,197 (GRCm38) missense possibly damaging 0.66
R4773:Slfn8 UTSW 11 83,017,393 (GRCm38) missense probably damaging 1.00
R4859:Slfn8 UTSW 11 83,017,714 (GRCm38) start codon destroyed probably null 0.99
R4916:Slfn8 UTSW 11 83,016,878 (GRCm38) missense probably damaging 1.00
R4939:Slfn8 UTSW 11 83,003,285 (GRCm38) missense probably benign 0.01
R5107:Slfn8 UTSW 11 83,017,150 (GRCm38) missense probably damaging 0.99
R5130:Slfn8 UTSW 11 83,003,821 (GRCm38) missense probably benign 0.35
R5165:Slfn8 UTSW 11 83,017,127 (GRCm38) missense probably damaging 0.99
R5238:Slfn8 UTSW 11 83,013,388 (GRCm38) missense probably damaging 0.96
R5282:Slfn8 UTSW 11 83,017,724 (GRCm38) critical splice acceptor site probably null
R5311:Slfn8 UTSW 11 83,004,084 (GRCm38) missense probably damaging 1.00
R5499:Slfn8 UTSW 11 83,004,216 (GRCm38) missense probably damaging 0.99
R5617:Slfn8 UTSW 11 83,004,721 (GRCm38) missense probably benign 0.01
R5782:Slfn8 UTSW 11 83,017,041 (GRCm38) missense probably damaging 0.98
R5823:Slfn8 UTSW 11 83,016,736 (GRCm38) missense probably benign 0.01
R5886:Slfn8 UTSW 11 83,003,334 (GRCm38) missense probably benign 0.09
R5933:Slfn8 UTSW 11 83,003,335 (GRCm38) missense probably benign 0.00
R6151:Slfn8 UTSW 11 83,017,321 (GRCm38) missense probably damaging 1.00
R6163:Slfn8 UTSW 11 83,003,864 (GRCm38) makesense probably null
R6191:Slfn8 UTSW 11 83,016,800 (GRCm38) missense possibly damaging 0.72
R6419:Slfn8 UTSW 11 83,004,055 (GRCm38) splice site probably null
R7065:Slfn8 UTSW 11 83,016,968 (GRCm38) missense probably benign 0.01
R7380:Slfn8 UTSW 11 83,003,740 (GRCm38) missense not run
R7414:Slfn8 UTSW 11 83,016,792 (GRCm38) nonsense probably null
R7819:Slfn8 UTSW 11 83,004,255 (GRCm38) missense probably damaging 1.00
R8425:Slfn8 UTSW 11 83,004,615 (GRCm38) missense possibly damaging 0.80
R8517:Slfn8 UTSW 11 83,004,142 (GRCm38) missense possibly damaging 0.68
R8804:Slfn8 UTSW 11 83,016,813 (GRCm38) missense possibly damaging 0.94
R8814:Slfn8 UTSW 11 83,016,679 (GRCm38) missense possibly damaging 0.95
R9069:Slfn8 UTSW 11 83,017,076 (GRCm38) missense probably damaging 1.00
R9233:Slfn8 UTSW 11 83,003,596 (GRCm38) missense probably damaging 1.00
R9457:Slfn8 UTSW 11 83,017,706 (GRCm38) missense probably benign
R9678:Slfn8 UTSW 11 83,016,897 (GRCm38) missense probably damaging 1.00
R9708:Slfn8 UTSW 11 83,003,441 (GRCm38) missense probably benign 0.00
R9764:Slfn8 UTSW 11 83,017,012 (GRCm38) missense probably damaging 1.00
X0021:Slfn8 UTSW 11 83,016,928 (GRCm38) missense possibly damaging 0.69
Z1177:Slfn8 UTSW 11 83,003,533 (GRCm38) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- TCAGACTTTGGTAGCCCCATG -3'
(R):5'- TCTGGATCAAGTTTCAGCTTCC -3'

Sequencing Primer
(F):5'- GCCCCATGCTAGATGACTTCAAG -3'
(R):5'- AAGTTTCAGCTTCCTTTCTTTGTGG -3'
Posted On 2018-11-28