Incidental Mutation 'R6139:Snupn'
ID 488491
Institutional Source Beutler Lab
Gene Symbol Snupn
Ensembl Gene ENSMUSG00000055334
Gene Name snurportin 1
Synonyms 0610031A09Rik, Rnut1
MMRRC Submission 044286-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.946) question?
Stock # R6139 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 56858162-56890490 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 56890108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 310 (Q310K)
Ref Sequence ENSEMBL: ENSMUSP00000067200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068856]
AlphaFold Q80W37
Predicted Effect possibly damaging
Transcript: ENSMUST00000068856
AA Change: Q310K

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000067200
Gene: ENSMUSG00000055334
AA Change: Q310K

DomainStartEndE-ValueType
Pfam:Snurportin1 25 64 2.4e-21 PFAM
low complexity region 73 88 N/A INTRINSIC
Meta Mutation Damage Score 0.1232 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 100% (50/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik A G 11: 117,697,150 (GRCm39) T250A probably damaging Het
Acacb T C 5: 114,350,713 (GRCm39) I1074T probably damaging Het
Acsl6 C A 11: 54,231,368 (GRCm39) P462T probably damaging Het
Aebp1 A G 11: 5,821,842 (GRCm39) D747G probably damaging Het
Antxr2 A C 5: 98,125,565 (GRCm39) probably null Het
Arhgap35 T C 7: 16,297,392 (GRCm39) T558A possibly damaging Het
Asap1 T A 15: 64,038,388 (GRCm39) I223F possibly damaging Het
C2cd5 A C 6: 142,980,784 (GRCm39) D669E probably damaging Het
Casz1 C T 4: 149,036,154 (GRCm39) T1472M probably damaging Het
Catsper4 A G 4: 133,945,177 (GRCm39) L154P probably damaging Het
Cep350 T C 1: 155,829,025 (GRCm39) E293G probably benign Het
Cma1 T A 14: 56,180,157 (GRCm39) probably null Het
Ddx42 C T 11: 106,130,843 (GRCm39) A439V probably damaging Het
Disp2 T A 2: 118,621,143 (GRCm39) L625Q probably damaging Het
Dnah1 T C 14: 31,007,984 (GRCm39) D2141G probably benign Het
Dsp T C 13: 38,376,382 (GRCm39) I1389T probably damaging Het
Fam81a A T 9: 70,010,100 (GRCm39) probably null Het
Fsip2 A G 2: 82,821,388 (GRCm39) D5707G possibly damaging Het
Gcnt4 G A 13: 97,083,360 (GRCm39) V219I probably benign Het
Gk2 A G 5: 97,604,139 (GRCm39) V233A probably benign Het
Grm1 T C 10: 10,622,075 (GRCm39) probably benign Het
Gsap T A 5: 21,486,538 (GRCm39) V649D probably damaging Het
Kif1b G A 4: 149,321,989 (GRCm39) H977Y possibly damaging Het
Ktn1 T A 14: 47,963,672 (GRCm39) probably null Het
Lgals12 T A 19: 7,581,742 (GRCm39) T29S probably benign Het
Me3 G T 7: 89,282,108 (GRCm39) probably benign Het
Mgst3 T G 1: 167,205,874 (GRCm39) K35T possibly damaging Het
Mtmr9 T C 14: 63,767,227 (GRCm39) R354G probably benign Het
Myh11 T C 16: 14,033,738 (GRCm39) E1059G probably damaging Het
Nr4a2 T A 2: 56,998,701 (GRCm39) H408L probably damaging Het
Or56b35 A T 7: 104,963,453 (GRCm39) T81S probably damaging Het
Or5ak23 A T 2: 85,244,690 (GRCm39) F178I probably damaging Het
Pds5b T A 5: 150,724,242 (GRCm39) L1275Q possibly damaging Het
Pfkfb4 A G 9: 108,856,825 (GRCm39) Y412C probably damaging Het
Pop1 T A 15: 34,529,204 (GRCm39) C745S probably benign Het
Ptpn14 T G 1: 189,583,362 (GRCm39) S736R probably benign Het
Rdh9 A T 10: 127,612,606 (GRCm39) T85S possibly damaging Het
Rnf223 T C 4: 156,217,260 (GRCm39) C212R probably damaging Het
Rnf39 A G 17: 37,254,230 (GRCm39) E84G probably damaging Het
Sfmbt1 T A 14: 30,533,375 (GRCm39) V584D probably damaging Het
Slc12a5 T A 2: 164,834,231 (GRCm39) S728T probably damaging Het
Slc16a12 T A 19: 34,648,295 (GRCm39) probably null Het
St7 T C 6: 17,694,353 (GRCm39) L48P probably damaging Het
Thsd7a T C 6: 12,379,572 (GRCm39) N951D possibly damaging Het
Ttn G A 2: 76,682,413 (GRCm39) R959* probably null Het
Ugt2b36 A T 5: 87,240,030 (GRCm39) D118E probably benign Het
Vmn2r7 G A 3: 64,623,339 (GRCm39) T327I probably damaging Het
Wdr70 T C 15: 8,108,735 (GRCm39) D137G probably benign Het
Wrn A T 8: 33,843,360 (GRCm39) M14K probably damaging Het
Xpot T A 10: 121,447,613 (GRCm39) E283V probably benign Het
Other mutations in Snupn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02820:Snupn APN 9 56,870,332 (GRCm39) missense probably benign
IGL02931:Snupn APN 9 56,864,364 (GRCm39) missense probably benign 0.02
R1160:Snupn UTSW 9 56,864,389 (GRCm39) missense probably benign 0.28
R4569:Snupn UTSW 9 56,885,346 (GRCm39) missense probably benign 0.22
R4570:Snupn UTSW 9 56,885,346 (GRCm39) missense probably benign 0.22
R5318:Snupn UTSW 9 56,864,345 (GRCm39) missense probably damaging 1.00
R6140:Snupn UTSW 9 56,890,108 (GRCm39) missense possibly damaging 0.82
R6141:Snupn UTSW 9 56,890,108 (GRCm39) missense possibly damaging 0.82
R6208:Snupn UTSW 9 56,890,247 (GRCm39) missense probably damaging 0.99
R6625:Snupn UTSW 9 56,890,054 (GRCm39) missense probably benign 0.01
R7278:Snupn UTSW 9 56,890,028 (GRCm39) missense probably damaging 1.00
R8251:Snupn UTSW 9 56,888,137 (GRCm39) missense probably damaging 1.00
R9290:Snupn UTSW 9 56,882,547 (GRCm39) missense possibly damaging 0.94
R9458:Snupn UTSW 9 56,890,039 (GRCm39) missense possibly damaging 0.72
R9729:Snupn UTSW 9 56,877,915 (GRCm39) missense possibly damaging 0.57
X0025:Snupn UTSW 9 56,877,632 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- TCTACAGGTAGATGGGCTGCTC -3'
(R):5'- CCTGGGTTTGGAAAGAATGCTC -3'

Sequencing Primer
(F):5'- AGATGGGCTGCTCTTCTACCATAAAC -3'
(R):5'- GGTCACTAATGGCTATCATCACTG -3'
Posted On 2017-10-10