Incidental Mutation 'R1160:Snupn'
Institutional Source Beutler Lab
Gene Symbol Snupn
Ensembl Gene ENSMUSG00000055334
Gene Namesnurportin 1
Synonyms0610031A09Rik, Rnut1
MMRRC Submission 039233-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.952) question?
Stock #R1160 (G1)
Quality Score173
Status Not validated
Chromosomal Location56950878-56983206 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 56957105 bp
Amino Acid Change Cysteine to Tryptophan at position 29 (C29W)
Ref Sequence ENSEMBL: ENSMUSP00000067200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068856]
Predicted Effect probably benign
Transcript: ENSMUST00000068856
AA Change: C29W

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000067200
Gene: ENSMUSG00000055334
AA Change: C29W

Pfam:Snurportin1 25 64 2.4e-21 PFAM
low complexity region 73 88 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.3%
  • 10x: 92.7%
  • 20x: 81.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear import of the spliceosomal snRNPs U1, U2, U4 and U5, is dependent on the presence of a complex nuclear localization signal. The latter is composed of the 5'-2,2,7-terminal trimethylguanosine (m3G) cap structure of the U snRNA and the Sm core domain. The protein encoded by this gene interacts specifically with m3G-cap and functions as an snRNP-specific nuclear import receptor. Alternatively spliced transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810403A07Rik C A 3: 88,708,862 P452Q probably damaging Het
Agap1 G T 1: 89,843,154 K622N probably damaging Het
Ap3b2 A T 7: 81,466,169 probably null Het
Arl5b T C 2: 15,069,837 V43A probably benign Het
Astn1 T C 1: 158,600,365 V702A possibly damaging Het
Bach1 T C 16: 87,715,434 V15A probably benign Het
Cacna1c C T 6: 118,612,625 R1446H probably damaging Het
Ccar2 C T 14: 70,139,769 V774M probably benign Het
Dcaf5 T C 12: 80,340,215 D379G possibly damaging Het
Dcpp1 T A 17: 23,881,431 I45K possibly damaging Het
Ddx17 T A 15: 79,541,087 S128C probably damaging Het
Eml3 A G 19: 8,933,250 N192S probably benign Het
Epha3 T G 16: 63,773,068 D219A probably damaging Het
Fhod3 C T 18: 24,985,236 A210V probably damaging Het
Klhl5 A G 5: 65,141,340 N154S probably benign Het
Lrif1 A G 3: 106,732,717 N373D possibly damaging Het
Map3k20 A G 2: 72,441,520 N664S probably benign Het
Olfr625-ps1 A G 7: 103,682,861 N38D possibly damaging Het
Parp14 G A 16: 35,856,760 A946V probably benign Het
Pdia3 G A 2: 121,432,377 G275S probably damaging Het
Pglyrp4 T A 3: 90,728,831 probably null Het
Pole A G 5: 110,295,253 E349G possibly damaging Het
Ptprj A G 2: 90,444,524 Y1165H probably damaging Het
Rasd1 T A 11: 59,964,721 I29F possibly damaging Het
Scamp3 T C 3: 89,181,198 F237S probably damaging Het
Sccpdh T G 1: 179,684,210 D82E probably benign Het
Slc19a3 A C 1: 83,022,692 H201Q possibly damaging Het
Slc5a4a G A 10: 76,178,161 A401T possibly damaging Het
Sorbs2 A G 8: 45,770,576 Y222C probably damaging Het
Sox17 A T 1: 4,491,852 V310E probably damaging Het
Srgap1 T A 10: 121,855,477 Y284F probably benign Het
Srpk1 C A 17: 28,599,774 V363F probably benign Het
Syt13 T A 2: 92,943,042 probably null Het
Taf2 A G 15: 55,071,397 V45A probably benign Het
Tal1 A T 4: 115,068,616 D294V probably damaging Het
Tbl2 A G 5: 135,159,392 T347A probably benign Het
Tet3 A G 6: 83,404,452 S110P probably benign Het
Tmem132a A G 19: 10,858,574 V864A probably damaging Het
Trak1 T C 9: 121,392,007 I80T probably benign Het
Trappc6b G A 12: 59,050,278 T86I probably damaging Het
Usf3 T A 16: 44,218,547 I1130N probably damaging Het
Xirp2 T C 2: 67,509,887 V824A possibly damaging Het
Zfp810 T C 9: 22,278,532 Y360C possibly damaging Het
Zmiz1 T A 14: 25,654,512 V685E probably damaging Het
Zp2 A T 7: 120,136,045 D368E probably damaging Het
Other mutations in Snupn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02820:Snupn APN 9 56963048 missense probably benign
IGL02931:Snupn APN 9 56957080 missense probably benign 0.02
R4569:Snupn UTSW 9 56978062 missense probably benign 0.22
R4570:Snupn UTSW 9 56978062 missense probably benign 0.22
R5318:Snupn UTSW 9 56957061 missense probably damaging 1.00
R6139:Snupn UTSW 9 56982824 missense possibly damaging 0.82
R6140:Snupn UTSW 9 56982824 missense possibly damaging 0.82
R6141:Snupn UTSW 9 56982824 missense possibly damaging 0.82
R6208:Snupn UTSW 9 56982963 missense probably damaging 0.99
R6625:Snupn UTSW 9 56982770 missense probably benign 0.01
R7278:Snupn UTSW 9 56982744 missense probably damaging 1.00
R8251:Snupn UTSW 9 56980853 missense probably damaging 1.00
X0025:Snupn UTSW 9 56970348 missense possibly damaging 0.85
Predicted Primers
Posted On2014-01-15