Incidental Mutation 'R1611:Slfnl1'
ID 176785
Institutional Source Beutler Lab
Gene Symbol Slfnl1
Ensembl Gene ENSMUSG00000047518
Gene Name schlafen like 1
Synonyms 4933406A14Rik
MMRRC Submission 039648-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R1611 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 120389446-120393858 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120390574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 75 (E75G)
Ref Sequence ENSEMBL: ENSMUSP00000050896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000087] [ENSMUST00000062990] [ENSMUST00000064991] [ENSMUST00000106298] [ENSMUST00000106301]
AlphaFold Q8BHW9
Predicted Effect probably benign
Transcript: ENSMUST00000000087
SMART Domains Protein: ENSMUSP00000000087
Gene: ENSMUSG00000000085

DomainStartEndE-ValueType
MBT 28 126 2.47e-48 SMART
MBT 134 235 1.36e-45 SMART
low complexity region 268 285 N/A INTRINSIC
low complexity region 301 340 N/A INTRINSIC
Pfam:DUF3588 354 468 4.3e-50 PFAM
SAM 594 662 1.8e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000062990
AA Change: E75G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000050896
Gene: ENSMUSG00000047518
AA Change: E75G

DomainStartEndE-ValueType
low complexity region 24 36 N/A INTRINSIC
low complexity region 149 173 N/A INTRINSIC
Pfam:AlbA_2 224 359 2.1e-30 PFAM
coiled coil region 369 401 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000064991
SMART Domains Protein: ENSMUSP00000069813
Gene: ENSMUSG00000000085

DomainStartEndE-ValueType
MBT 28 126 2.47e-48 SMART
MBT 134 235 1.36e-45 SMART
low complexity region 268 285 N/A INTRINSIC
low complexity region 301 340 N/A INTRINSIC
Pfam:DUF3588 357 465 5.8e-39 PFAM
SAM 594 662 1.57e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106298
SMART Domains Protein: ENSMUSP00000101905
Gene: ENSMUSG00000000085

DomainStartEndE-ValueType
MBT 28 126 2.47e-48 SMART
MBT 134 235 1.36e-45 SMART
low complexity region 268 285 N/A INTRINSIC
low complexity region 301 340 N/A INTRINSIC
Pfam:DUF3588 354 468 4.3e-50 PFAM
SAM 594 662 1.8e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106301
SMART Domains Protein: ENSMUSP00000101908
Gene: ENSMUSG00000000085

DomainStartEndE-ValueType
MBT 28 126 2.47e-48 SMART
MBT 134 235 1.36e-45 SMART
low complexity region 268 285 N/A INTRINSIC
low complexity region 301 340 N/A INTRINSIC
Pfam:DUF3588 354 468 4.7e-50 PFAM
SAM 594 662 1.57e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133169
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133290
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136801
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144862
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144555
Meta Mutation Damage Score 0.0759 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.9%
Validation Efficiency 97% (75/77)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A T 11: 54,216,390 (GRCm39) I186F possibly damaging Het
Actr6 T A 10: 89,568,064 (GRCm39) K14* probably null Het
Adgrv1 A T 13: 81,707,236 (GRCm39) V1390E probably damaging Het
Akap1 C T 11: 88,736,104 (GRCm39) R186K probably benign Het
Alg10b T A 15: 90,109,984 (GRCm39) V99D probably damaging Het
Atp2c1 C T 9: 105,320,051 (GRCm39) G407S probably damaging Het
Atp9a T C 2: 168,515,489 (GRCm39) M401V probably damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Bclaf1 T C 10: 20,198,998 (GRCm39) probably benign Het
Bcr T A 10: 74,961,034 (GRCm39) probably null Het
Bivm T C 1: 44,165,907 (GRCm39) I119T possibly damaging Het
Cacna1h A G 17: 25,600,445 (GRCm39) I1632T probably damaging Het
Capn9 G A 8: 125,338,251 (GRCm39) V537M possibly damaging Het
Cdk11b G A 4: 155,726,032 (GRCm39) probably benign Het
Cdk18 T A 1: 132,050,113 (GRCm39) I21F probably damaging Het
Cep85l T C 10: 53,224,777 (GRCm39) T271A probably benign Het
Chrm5 T C 2: 112,309,532 (GRCm39) N528S possibly damaging Het
Cpsf6 T A 10: 117,197,733 (GRCm39) probably benign Het
Cpt1c T C 7: 44,609,536 (GRCm39) T689A probably benign Het
D030068K23Rik T C 8: 109,975,935 (GRCm39) Y64C unknown Het
Ddb1 T A 19: 10,604,128 (GRCm39) probably null Het
Ddb1 T A 19: 10,590,252 (GRCm39) C260S probably damaging Het
Depdc5 C A 5: 33,148,297 (GRCm39) Q1478K probably damaging Het
Diaph1 A C 18: 38,033,755 (GRCm39) M247R unknown Het
Dnai3 T C 3: 145,801,113 (GRCm39) Y115C probably damaging Het
Dusp8 T C 7: 141,636,694 (GRCm39) S299G probably benign Het
Erbb4 C A 1: 68,079,547 (GRCm39) G1178C probably damaging Het
Exoc7 A T 11: 116,186,091 (GRCm39) I370N possibly damaging Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Gm12353 T A 4: 19,631,843 (GRCm39) Y27* probably null Het
Gnl1 C T 17: 36,298,441 (GRCm39) T395I probably damaging Het
Hpse2 G A 19: 42,777,504 (GRCm39) T554I probably damaging Het
Hsd17b11 T C 5: 104,157,765 (GRCm39) I116V probably benign Het
Inava G A 1: 136,143,855 (GRCm39) P527L probably damaging Het
Kif24 A T 4: 41,423,552 (GRCm39) V233E probably benign Het
Klhl5 A G 5: 65,321,992 (GRCm39) T673A probably benign Het
Kmt2c C A 5: 25,564,309 (GRCm39) probably null Het
Lipg T C 18: 75,081,130 (GRCm39) N317S possibly damaging Het
Lpin1 A T 12: 16,627,219 (GRCm39) L109Q probably null Het
Lyst A G 13: 13,809,482 (GRCm39) E384G probably damaging Het
Mical2 T A 7: 111,980,671 (GRCm39) I105N probably damaging Het
Muc4 C T 16: 32,569,804 (GRCm39) T288I possibly damaging Het
Naa35 G T 13: 59,776,747 (GRCm39) R574L probably benign Het
Ncor2 T C 5: 125,187,084 (GRCm39) probably benign Het
Nedd9 T A 13: 41,470,406 (GRCm39) D249V probably benign Het
Nsg1 T A 5: 38,296,060 (GRCm39) K38* probably null Het
Nup155 T A 15: 8,159,644 (GRCm39) D518E probably damaging Het
Or5i1 T A 2: 87,612,968 (GRCm39) I28N probably benign Het
Ovol1 T A 19: 5,601,098 (GRCm39) H231L probably damaging Het
Parg A G 14: 31,960,527 (GRCm39) I586V probably damaging Het
Pde7b T C 10: 20,310,236 (GRCm39) N242S probably benign Het
Pias3 T A 3: 96,607,013 (GRCm39) probably null Het
Pramel13 A T 4: 144,119,382 (GRCm39) V395E probably benign Het
Ptprf A G 4: 118,093,430 (GRCm39) V404A probably benign Het
Rigi T C 4: 40,223,862 (GRCm39) Y339C probably damaging Het
Rnf145 T C 11: 44,442,625 (GRCm39) L259P probably damaging Het
Rps6ka5 C G 12: 100,537,111 (GRCm39) V540L possibly damaging Het
Ryr3 C T 2: 112,483,850 (GRCm39) D3966N possibly damaging Het
Samd9l A T 6: 3,373,771 (GRCm39) S1163R probably benign Het
Serpinb9g T C 13: 33,676,857 (GRCm39) I213T possibly damaging Het
Sil1 A T 18: 35,402,141 (GRCm39) V331E possibly damaging Het
Ski A G 4: 155,244,395 (GRCm39) F410S probably damaging Het
Slc25a25 C T 2: 32,310,391 (GRCm39) E123K probably damaging Het
Sp1 T A 15: 102,339,370 (GRCm39) I436N probably damaging Het
Taf4b A T 18: 14,977,526 (GRCm39) E766V probably null Het
Tgfbr1 A G 4: 47,396,526 (GRCm39) Y180C probably damaging Het
Ube4a T C 9: 44,868,035 (GRCm39) probably benign Het
Vmn2r1 T A 3: 64,011,958 (GRCm39) C606* probably null Het
Zfp341 C A 2: 154,487,623 (GRCm39) H702Q probably damaging Het
Other mutations in Slfnl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Slfnl1 APN 4 120,390,553 (GRCm39) missense probably damaging 0.96
R1672:Slfnl1 UTSW 4 120,392,972 (GRCm39) missense probably damaging 0.99
R2001:Slfnl1 UTSW 4 120,390,424 (GRCm39) missense probably benign 0.08
R2919:Slfnl1 UTSW 4 120,390,275 (GRCm39) unclassified probably benign
R4928:Slfnl1 UTSW 4 120,392,882 (GRCm39) missense probably damaging 1.00
R6108:Slfnl1 UTSW 4 120,390,558 (GRCm39) missense probably benign 0.00
R7414:Slfnl1 UTSW 4 120,392,451 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATGAGCCTCAGAAAGAGATCAGCG -3'
(R):5'- TCCCTGTGGTGTAAGGACTCCAAG -3'

Sequencing Primer
(F):5'- GAGTCTCCTGTGATGTCCCAG -3'
(R):5'- TCACTCAACACCAGCTCCTTG -3'
Posted On 2014-04-24