Incidental Mutation 'R5616:Snurf'
ID 439534
Institutional Source Beutler Lab
Gene Symbol Snurf
Ensembl Gene ENSMUSG00000102627
Gene Name SNRPN upstream reading frame
Synonyms
MMRRC Submission 043159-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.204) question?
Stock # R5616 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 59645197-59654797 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 59649133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 15 (E15K)
Ref Sequence ENSEMBL: ENSMUSP00000141531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059305] [ENSMUST00000098402] [ENSMUST00000179360] [ENSMUST00000189432] [ENSMUST00000194059]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000059305
SMART Domains Protein: ENSMUSP00000055941
Gene: ENSMUSG00000102252

DomainStartEndE-ValueType
Sm 7 82 9.25e-25 SMART
low complexity region 93 119 N/A INTRINSIC
low complexity region 148 164 N/A INTRINSIC
low complexity region 169 209 N/A INTRINSIC
low complexity region 212 240 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098402
SMART Domains Protein: ENSMUSP00000096003
Gene: ENSMUSG00000102252

DomainStartEndE-ValueType
Sm 7 82 9.25e-25 SMART
low complexity region 93 119 N/A INTRINSIC
low complexity region 148 164 N/A INTRINSIC
low complexity region 169 209 N/A INTRINSIC
low complexity region 212 240 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000179360
AA Change: E15K

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000136053
Gene: ENSMUSG00000000948
AA Change: E15K

DomainStartEndE-ValueType
Pfam:SNURF 1 70 4.4e-50 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000189432
AA Change: E15K

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000194059
AA Change: E15K

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141531
Gene: ENSMUSG00000102627
AA Change: E15K

DomainStartEndE-ValueType
Pfam:SNURF 1 70 4.4e-50 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a highly basic protein localized to the nucleus. The evolutionarily constrained open reading frame is found on a bicistronic transcript which has a downstream ORF encoding the small nuclear ribonucleoprotein polypeptide N (Snrpn). The upstream coding region utilizes the first three exons of the transcript, a region that has been identified as an imprinting center. Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region but the full-length nature of these transcripts has not been determined. The 5' UTR of this gene has been identified as an imprinting center. Alternative splicing or deletion caused by a translocation event in this paternally-expressed region in human and mouse is responsible for Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. The function of this protein is not yet known. [provided by RefSeq, Jul 2008]
PHENOTYPE: This marker is part of a bicistronic gene with Snrpn. All alleles are listed on the Snrpn detail page. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 A T 3: 121,566,009 (GRCm39) D443E probably benign Het
Arhgef5 A G 6: 43,252,874 (GRCm39) D1037G probably benign Het
B3glct T A 5: 149,653,399 (GRCm39) L148* probably null Het
Cacna1e G A 1: 154,317,940 (GRCm39) P1481S probably damaging Het
Cacna1h C A 17: 25,596,641 (GRCm39) R117L probably damaging Het
Cct6b A T 11: 82,632,175 (GRCm39) V271E probably damaging Het
Cenpf A G 1: 189,389,483 (GRCm39) S1450P probably damaging Het
Cul1 G A 6: 47,500,722 (GRCm39) R707H probably damaging Het
Dcakd A G 11: 102,885,831 (GRCm39) L191P possibly damaging Het
Dhx32 T C 7: 133,322,957 (GRCm39) *612W probably null Het
Disp1 T A 1: 182,869,913 (GRCm39) T836S probably benign Het
Dppa4 T A 16: 48,111,393 (GRCm39) V126D probably damaging Het
Fam98b A G 2: 117,098,267 (GRCm39) T246A possibly damaging Het
Fkbp4 A T 6: 128,410,517 (GRCm39) V273E probably damaging Het
Gpr31b A G 17: 13,270,831 (GRCm39) Y113H probably damaging Het
Gpr33 T C 12: 52,070,377 (GRCm39) I221V probably damaging Het
Klhl1 A G 14: 96,755,729 (GRCm39) F9L probably benign Het
Larp4b T A 13: 9,208,695 (GRCm39) N449K probably damaging Het
Loxhd1 T C 18: 77,492,647 (GRCm39) S1363P probably damaging Het
Lrrc8a T C 2: 30,145,366 (GRCm39) V60A probably benign Het
Matn3 A G 12: 8,998,195 (GRCm39) H51R probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mtrf1 T C 14: 79,638,885 (GRCm39) C6R possibly damaging Het
Myh6 T C 14: 55,194,038 (GRCm39) S784G probably benign Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Nipal3 T C 4: 135,179,715 (GRCm39) Y401C probably benign Het
Pcdhb20 A G 18: 37,637,585 (GRCm39) E37G probably damaging Het
Pelp1 G A 11: 70,285,688 (GRCm39) P727S possibly damaging Het
Prkca T C 11: 107,869,169 (GRCm39) D472G possibly damaging Het
Ptprg A G 14: 12,122,120 (GRCm38) H328R probably benign Het
Rtl1 C T 12: 109,559,173 (GRCm39) E889K unknown Het
Rubcn T C 16: 32,647,293 (GRCm39) D715G possibly damaging Het
Sptbn5 G A 2: 119,876,965 (GRCm39) probably benign Het
Srp72 T G 5: 77,135,781 (GRCm39) L237R probably damaging Het
Syne3 T C 12: 104,921,937 (GRCm39) E406G probably damaging Het
Tgm2 A G 2: 157,970,640 (GRCm39) S340P probably damaging Het
Trim41 GCCTAGGCGCCCA G 11: 48,698,192 (GRCm39) probably benign Het
Tsc22d1 T C 14: 76,653,657 (GRCm39) probably benign Het
Tsc22d2 G T 3: 58,324,583 (GRCm39) probably benign Het
Vmn1r42 T C 6: 89,822,084 (GRCm39) I162V possibly damaging Het
Vmn2r59 A G 7: 41,708,191 (GRCm39) probably null Het
Wnt3 T C 11: 103,703,596 (GRCm39) probably null Het
Other mutations in Snurf
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4676:Snurf UTSW 7 59,645,270 (GRCm39) missense probably benign 0.32
R5564:Snurf UTSW 7 59,645,282 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GGTTGAAATGGTAAAAGCTGACTTC -3'
(R):5'- TCATTTAGCCTAGACTGACCCC -3'

Sequencing Primer
(F):5'- GGTAAAAGCTGACTTCTGTTCAAAC -3'
(R):5'- CTTGGAACTAACTCTGTAGACCAGG -3'
Posted On 2016-11-08