Incidental Mutation 'R3055:Shfl'
ID 265129
Institutional Source Beutler Lab
Gene Symbol Shfl
Ensembl Gene ENSMUSG00000038884
Gene Name shiftless antiviral inhibitor of ribosomal frameshifting
Synonyms A230050P20Rik
MMRRC Submission 040564-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3055 (G1)
Quality Score 108
Status Not validated
Chromosome 9
Chromosomal Location 20779938-20785603 bp(+) (GRCm39)
Type of Mutation small deletion (1 aa in frame mutation)
DNA Base Change (assembly) AGAGGAGGAGGAGGAGGAGGAGGAGGA to AGAGGAGGAGGAGGAGGAGGAGGA at 20785013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000045384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043726] [ENSMUST00000043911]
AlphaFold Q8CAK3
Predicted Effect probably benign
Transcript: ENSMUST00000043726
SMART Domains Protein: ENSMUSP00000035784
Gene: ENSMUSG00000038742

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
coiled coil region 51 77 N/A INTRINSIC
coiled coil region 126 164 N/A INTRINSIC
low complexity region 180 197 N/A INTRINSIC
FBG 242 455 7.15e-88 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000043911
SMART Domains Protein: ENSMUSP00000045384
Gene: ENSMUSG00000038884

DomainStartEndE-ValueType
Pfam:UPF0515 16 272 1.3e-127 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175820
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176142
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176990
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177067
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik A G 14: 4,348,878 (GRCm38) E13G probably damaging Het
5730596B20Rik A T 6: 52,156,108 (GRCm39) probably benign Het
Aadacl4fm4 A G 4: 144,401,268 (GRCm39) I72T probably benign Het
Abca16 A G 7: 120,035,074 (GRCm39) M287V probably benign Het
Abca7 G A 10: 79,835,581 (GRCm39) R283H probably damaging Het
Acad11 A G 9: 103,953,535 (GRCm39) I126V probably damaging Het
Ahrr A G 13: 74,373,006 (GRCm39) V148A probably damaging Het
Aldh1l2 T C 10: 83,338,336 (GRCm39) K528E probably benign Het
Atp6v0a2 T A 5: 124,765,209 (GRCm39) probably benign Het
Atxn10 A G 15: 85,271,206 (GRCm39) D248G probably benign Het
Bard1 A G 1: 71,127,390 (GRCm39) V73A possibly damaging Het
Catsper3 T C 13: 55,956,709 (GRCm39) S376P unknown Het
Ccdc150 A G 1: 54,328,001 (GRCm39) N361S possibly damaging Het
Cxcr6 A T 9: 123,639,529 (GRCm39) I177F probably damaging Het
Ddx25 A G 9: 35,462,647 (GRCm39) V246A probably damaging Het
Drd4 T C 7: 140,874,392 (GRCm39) V319A probably damaging Het
Dscam G A 16: 96,602,555 (GRCm39) T629I probably damaging Het
Evi5l C T 8: 4,241,603 (GRCm39) R311* probably null Het
Fxr1 A G 3: 34,103,333 (GRCm39) E221G probably damaging Het
Gldn A T 9: 54,245,807 (GRCm39) T453S probably damaging Het
Ighm T A 12: 113,382,596 (GRCm39) probably benign Het
Ints12 G A 3: 132,815,126 (GRCm39) M444I possibly damaging Het
Lgr5 T A 10: 115,302,028 (GRCm39) probably benign Het
Mier3 T A 13: 111,827,837 (GRCm39) D7E probably damaging Het
Mms19 A T 19: 41,938,527 (GRCm39) probably benign Het
Mrpl20 G T 4: 155,888,329 (GRCm39) V43F possibly damaging Het
Muc5b G T 7: 141,417,778 (GRCm39) V3575F probably damaging Het
Naip5 T C 13: 100,358,386 (GRCm39) Y950C probably benign Het
Or4d2 A G 11: 87,784,198 (GRCm39) V184A possibly damaging Het
Or5t9 T C 2: 86,659,471 (GRCm39) F125S possibly damaging Het
Or8b12b G T 9: 37,684,489 (GRCm39) C178F probably damaging Het
Pkd1l2 T A 8: 117,795,054 (GRCm39) probably null Het
Prune2 A G 19: 17,102,407 (GRCm39) E2522G probably damaging Het
Radil T C 5: 142,481,161 (GRCm39) T549A possibly damaging Het
Radx T A X: 138,412,306 (GRCm39) V439E possibly damaging Het
Rasa2 G A 9: 96,493,526 (GRCm39) L53F possibly damaging Het
Rasgrf2 A G 13: 92,165,583 (GRCm39) F306L probably damaging Het
Rbm19 C T 5: 120,271,075 (GRCm39) R633C probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc4a4 T A 5: 89,280,366 (GRCm39) L353H probably damaging Het
Slc4a4 T C 5: 89,373,807 (GRCm39) V971A probably damaging Het
Stil T A 4: 114,871,266 (GRCm39) probably benign Het
Tjp3 T C 10: 81,116,341 (GRCm39) K251R probably benign Het
Ugt2b35 A T 5: 87,149,457 (GRCm39) Y236F probably benign Het
Utp14b T A 1: 78,642,442 (GRCm39) D113E possibly damaging Het
Vmn1r121 G A 7: 20,832,390 (GRCm39) Q17* probably null Het
Vmn2r28 A T 7: 5,484,391 (GRCm39) L603Q probably damaging Het
Vps13b A G 15: 35,646,507 (GRCm39) E1537G probably damaging Het
Xrcc4 T C 13: 90,210,196 (GRCm39) T83A probably benign Het
Yae1d1 T C 13: 18,167,827 (GRCm39) E22G probably damaging Het
Other mutations in Shfl
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0669:Shfl UTSW 9 20,785,013 (GRCm39) small deletion probably benign
R0943:Shfl UTSW 9 20,784,258 (GRCm39) missense possibly damaging 0.81
R1500:Shfl UTSW 9 20,785,013 (GRCm39) small deletion probably benign
R2483:Shfl UTSW 9 20,784,473 (GRCm39) missense possibly damaging 0.93
R2848:Shfl UTSW 9 20,784,868 (GRCm39) missense probably damaging 0.98
R5089:Shfl UTSW 9 20,780,212 (GRCm39) start codon destroyed probably benign 0.02
R5710:Shfl UTSW 9 20,784,192 (GRCm39) missense possibly damaging 0.46
R7720:Shfl UTSW 9 20,780,155 (GRCm39) start gained probably benign
R7726:Shfl UTSW 9 20,784,461 (GRCm39) missense possibly damaging 0.89
R7863:Shfl UTSW 9 20,782,672 (GRCm39) missense possibly damaging 0.57
Predicted Primers PCR Primer
(F):5'- AGCAACTCTCCTTCCCCTAGAG -3'
(R):5'- GCGTACTCTCTGAAGAAAGCTG -3'

Sequencing Primer
(F):5'- TAGAGCCCCATGTGCCTG -3'
(R):5'- CTGAAGAAAGCTGTTATGTTGACCCG -3'
Posted On 2015-02-05