Incidental Mutation 'R2024:Slfn9'
ID 220323
Institutional Source Beutler Lab
Gene Symbol Slfn9
Ensembl Gene ENSMUSG00000069793
Gene Name schlafen 9
Synonyms 9830137M10Rik
MMRRC Submission 040033-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R2024 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 82869216-82882656 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82872507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 743 (L743P)
Ref Sequence ENSEMBL: ENSMUSP00000090515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038211] [ENSMUST00000092840] [ENSMUST00000138797]
AlphaFold B1ARD6
Predicted Effect probably damaging
Transcript: ENSMUST00000038211
AA Change: L743P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044435
Gene: ENSMUSG00000069793
AA Change: L743P

DomainStartEndE-ValueType
low complexity region 28 44 N/A INTRINSIC
Pfam:AlbA_2 205 343 2.3e-17 PFAM
Pfam:DUF2075 592 766 9.7e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000092840
AA Change: L743P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090515
Gene: ENSMUSG00000069793
AA Change: L743P

DomainStartEndE-ValueType
low complexity region 28 44 N/A INTRINSIC
Pfam:AAA_4 205 344 1.6e-18 PFAM
Pfam:DUF2075 592 766 1.2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138797
SMART Domains Protein: ENSMUSP00000115273
Gene: ENSMUSG00000069793

DomainStartEndE-ValueType
low complexity region 28 44 N/A INTRINSIC
Pfam:AAA_4 205 344 3.8e-19 PFAM
Pfam:DUF2075 592 642 1.9e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183379
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 90.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid2 A G 15: 96,259,680 (GRCm39) D280G probably damaging Het
Atosa A G 9: 74,917,672 (GRCm39) D757G probably damaging Het
Azi2 C T 9: 117,878,390 (GRCm39) R77* probably null Het
Chd8 T C 14: 52,468,950 (GRCm39) D556G probably benign Het
Cit T C 5: 116,085,983 (GRCm39) M849T probably damaging Het
Cit T C 5: 116,143,899 (GRCm39) S1923P probably damaging Het
Col17a1 T A 19: 47,639,185 (GRCm39) H1120L probably benign Het
Col6a5 G T 9: 105,814,193 (GRCm39) H606Q unknown Het
Dnajc2 A C 5: 21,981,788 (GRCm39) H45Q probably damaging Het
Dpp6 A G 5: 27,914,457 (GRCm39) D514G possibly damaging Het
Dync2h1 A G 9: 7,129,062 (GRCm39) S1818P probably damaging Het
Efemp1 A T 11: 28,864,696 (GRCm39) Y250F possibly damaging Het
Emc1 G A 4: 139,088,257 (GRCm39) E342K possibly damaging Het
Fam3c T C 6: 22,329,592 (GRCm39) D45G probably benign Het
Fchsd2 A C 7: 100,847,740 (GRCm39) D210A possibly damaging Het
Flg T A 3: 93,186,722 (GRCm39) M58K probably damaging Het
Gabra5 G A 7: 57,138,698 (GRCm39) R117C probably damaging Het
Gm6741 G A 17: 91,544,309 (GRCm39) S24N probably benign Het
Grin2a T C 16: 9,462,107 (GRCm39) D675G possibly damaging Het
Hectd4 T G 5: 121,419,981 (GRCm39) V642G possibly damaging Het
Herc6 C T 6: 57,560,317 (GRCm39) T119M probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hmgcs2 T C 3: 98,206,530 (GRCm39) S371P probably damaging Het
Idua C T 5: 108,828,600 (GRCm39) A271V probably damaging Het
Inpp5d T A 1: 87,623,072 (GRCm39) C125* probably null Het
Krt14 C T 11: 100,098,044 (GRCm39) G80R unknown Het
Lama5 T C 2: 179,820,923 (GRCm39) Y3176C probably benign Het
Lce1k C T 3: 92,713,809 (GRCm39) C125Y unknown Het
Lig4 A T 8: 10,022,436 (GRCm39) L448Q probably damaging Het
Macf1 C T 4: 123,265,711 (GRCm39) A4821T probably damaging Het
Meioc C T 11: 102,566,184 (GRCm39) A600V probably benign Het
Mepe T C 5: 104,474,957 (GRCm39) S13P possibly damaging Het
Mms22l A G 4: 24,588,365 (GRCm39) Y999C probably damaging Het
Ncbp3 T A 11: 72,944,346 (GRCm39) M116K possibly damaging Het
Ndufa10 A G 1: 92,367,614 (GRCm39) Y339H probably damaging Het
Nkx3-1 T C 14: 69,428,266 (GRCm39) I38T probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Or4k49 T A 2: 111,495,168 (GRCm39) M199K possibly damaging Het
Padi6 T G 4: 140,456,279 (GRCm39) I572L possibly damaging Het
Pdss2 A T 10: 43,269,871 (GRCm39) N238I possibly damaging Het
Pkd1l2 A G 8: 117,746,272 (GRCm39) V1906A probably benign Het
Pom121 T C 5: 135,410,404 (GRCm39) probably benign Het
Psmd9 T C 5: 123,379,925 (GRCm39) F115L probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rai1 T C 11: 60,076,415 (GRCm39) F160L probably damaging Het
Rhbdl2 A T 4: 123,720,665 (GRCm39) R234S probably damaging Het
Rnase2a T A 14: 51,493,245 (GRCm39) Y40F probably damaging Het
Setd2 T C 9: 110,378,201 (GRCm39) V672A possibly damaging Het
Sgpp2 A G 1: 78,393,857 (GRCm39) I287V probably benign Het
Sh3pxd2a T C 19: 47,255,703 (GRCm39) E1033G probably benign Het
Slc5a9 G A 4: 111,747,728 (GRCm39) T284I probably damaging Het
Smchd1 T A 17: 71,677,923 (GRCm39) N1473I probably benign Het
Stx1b A T 7: 127,414,575 (GRCm39) D16E probably benign Het
Tectb T C 19: 55,170,361 (GRCm39) F71L probably damaging Het
Tmem220 T C 11: 66,924,979 (GRCm39) I138T possibly damaging Het
Tmtc4 T C 14: 123,158,677 (GRCm39) N682S probably benign Het
Tnc A G 4: 63,882,858 (GRCm39) V1921A probably damaging Het
Ubn1 T G 16: 4,882,487 (GRCm39) L316W probably damaging Het
Vwa5a T C 9: 38,647,357 (GRCm39) S579P probably damaging Het
Xdh A G 17: 74,228,300 (GRCm39) L367P possibly damaging Het
Zfp280b T C 10: 75,874,328 (GRCm39) L69S probably damaging Het
Zfp990 A C 4: 145,263,974 (GRCm39) Y324S possibly damaging Het
Other mutations in Slfn9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00900:Slfn9 APN 11 82,872,197 (GRCm39) nonsense probably null
IGL01340:Slfn9 APN 11 82,872,577 (GRCm39) missense probably benign 0.29
IGL01543:Slfn9 APN 11 82,878,775 (GRCm39) missense probably benign
IGL01735:Slfn9 APN 11 82,873,158 (GRCm39) missense probably damaging 1.00
IGL01778:Slfn9 APN 11 82,878,200 (GRCm39) missense probably damaging 0.98
IGL01863:Slfn9 APN 11 82,872,151 (GRCm39) missense probably benign 0.27
IGL01997:Slfn9 APN 11 82,878,503 (GRCm39) missense possibly damaging 0.80
IGL02380:Slfn9 APN 11 82,872,046 (GRCm39) missense probably benign 0.23
IGL02993:Slfn9 APN 11 82,872,022 (GRCm39) missense probably benign 0.18
R1463:Slfn9 UTSW 11 82,872,524 (GRCm39) missense possibly damaging 0.78
R1687:Slfn9 UTSW 11 82,872,983 (GRCm39) missense probably damaging 0.99
R1786:Slfn9 UTSW 11 82,872,133 (GRCm39) missense probably damaging 0.99
R1796:Slfn9 UTSW 11 82,872,781 (GRCm39) missense probably benign 0.00
R1870:Slfn9 UTSW 11 82,872,402 (GRCm39) missense probably benign
R1871:Slfn9 UTSW 11 82,872,402 (GRCm39) missense probably benign
R2004:Slfn9 UTSW 11 82,879,027 (GRCm39) missense probably benign 0.25
R2106:Slfn9 UTSW 11 82,878,506 (GRCm39) missense possibly damaging 0.89
R2140:Slfn9 UTSW 11 82,875,481 (GRCm39) missense possibly damaging 0.76
R3004:Slfn9 UTSW 11 82,872,590 (GRCm39) missense possibly damaging 0.94
R4293:Slfn9 UTSW 11 82,873,334 (GRCm39) missense probably benign 0.01
R4927:Slfn9 UTSW 11 82,872,216 (GRCm39) missense possibly damaging 0.47
R4950:Slfn9 UTSW 11 82,872,730 (GRCm39) missense probably benign
R5471:Slfn9 UTSW 11 82,873,613 (GRCm39) missense possibly damaging 0.85
R5543:Slfn9 UTSW 11 82,873,207 (GRCm39) missense probably damaging 1.00
R5576:Slfn9 UTSW 11 82,872,258 (GRCm39) missense probably benign
R5996:Slfn9 UTSW 11 82,878,310 (GRCm39) missense possibly damaging 0.67
R7272:Slfn9 UTSW 11 82,872,387 (GRCm39) missense probably benign 0.36
R7421:Slfn9 UTSW 11 82,878,562 (GRCm39) missense probably damaging 0.96
R7421:Slfn9 UTSW 11 82,872,197 (GRCm39) nonsense probably null
R7498:Slfn9 UTSW 11 82,873,013 (GRCm39) missense probably damaging 0.98
R7788:Slfn9 UTSW 11 82,873,467 (GRCm39) missense possibly damaging 0.85
R8286:Slfn9 UTSW 11 82,872,095 (GRCm39) missense probably damaging 0.99
R8304:Slfn9 UTSW 11 82,873,605 (GRCm39) missense probably benign 0.14
R8388:Slfn9 UTSW 11 82,878,112 (GRCm39) missense probably benign
R8678:Slfn9 UTSW 11 82,872,370 (GRCm39) missense probably benign 0.33
R8730:Slfn9 UTSW 11 82,878,194 (GRCm39) missense possibly damaging 0.80
R8914:Slfn9 UTSW 11 82,872,132 (GRCm39) missense probably damaging 0.99
R9050:Slfn9 UTSW 11 82,879,120 (GRCm39) missense probably benign 0.00
R9424:Slfn9 UTSW 11 82,878,211 (GRCm39) missense possibly damaging 0.75
R9576:Slfn9 UTSW 11 82,878,211 (GRCm39) missense possibly damaging 0.75
Z1176:Slfn9 UTSW 11 82,873,261 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCTTGGGGAGAATAGCCTTTAC -3'
(R):5'- CGCACTGAGGATGGAAACTG -3'

Sequencing Primer
(F):5'- CTTGGGGAGAATAGCCTTTACTCAAG -3'
(R):5'- CACTGAGGATGGAAACTGGTATG -3'
Posted On 2014-08-25