Incidental Mutation 'IGL03410:Rnps1'
ID 421774
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnps1
Ensembl Gene ENSMUSG00000034681
Gene Name RNA binding protein with serine rich domain 1
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03410
Quality Score
Status
Chromosome 17
Chromosomal Location 24633620-24644872 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 24640835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024946] [ENSMUST00000088512] [ENSMUST00000115371] [ENSMUST00000163717]
AlphaFold Q99M28
Predicted Effect probably benign
Transcript: ENSMUST00000024946
SMART Domains Protein: ENSMUSP00000024946
Gene: ENSMUSG00000024132

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
Pfam:ECH_1 39 288 3.2e-96 PFAM
Pfam:ECH_2 44 289 5.1e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000088512
SMART Domains Protein: ENSMUSP00000085867
Gene: ENSMUSG00000034681

DomainStartEndE-ValueType
low complexity region 30 46 N/A INTRINSIC
low complexity region 55 157 N/A INTRINSIC
RRM 162 236 5.12e-21 SMART
low complexity region 243 305 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115371
SMART Domains Protein: ENSMUSP00000111028
Gene: ENSMUSG00000034681

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
low complexity region 32 134 N/A INTRINSIC
RRM 139 213 5.12e-21 SMART
low complexity region 220 282 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163717
SMART Domains Protein: ENSMUSP00000126345
Gene: ENSMUSG00000034681

DomainStartEndE-ValueType
low complexity region 30 46 N/A INTRINSIC
low complexity region 55 157 N/A INTRINSIC
RRM 162 236 5.12e-21 SMART
low complexity region 243 305 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. This protein contains many serine residues. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,220,728 (GRCm39) V409E probably damaging Het
1700086D15Rik A G 11: 65,043,393 (GRCm39) probably benign Het
Apba1 A G 19: 23,914,945 (GRCm39) N715S possibly damaging Het
Arfgef3 G T 10: 18,476,238 (GRCm39) A1527D probably damaging Het
Cmtm2a G T 8: 105,010,501 (GRCm39) P133T probably damaging Het
Cyp2d9 T C 15: 82,340,900 (GRCm39) V483A probably benign Het
Dclre1b T A 3: 103,715,456 (GRCm39) D14V probably damaging Het
Dock5 T C 14: 68,083,535 (GRCm39) I125V probably benign Het
Dok3 G T 13: 55,672,044 (GRCm39) Y211* probably null Het
Fat4 T C 3: 38,945,325 (GRCm39) V1406A probably damaging Het
Fbn2 A G 18: 58,183,315 (GRCm39) F1790S possibly damaging Het
Gm4787 A T 12: 81,425,948 (GRCm39) M70K probably damaging Het
Gulp1 A T 1: 44,747,777 (GRCm39) D10V probably damaging Het
Hagh T C 17: 25,079,916 (GRCm39) probably benign Het
Htt A G 5: 34,956,789 (GRCm39) E206G probably damaging Het
Hyou1 A G 9: 44,299,355 (GRCm39) E682G probably benign Het
Ift56 T C 6: 38,362,435 (GRCm39) L70P probably damaging Het
Igkv4-59 G T 6: 69,415,450 (GRCm39) A35E probably damaging Het
Krt78 A G 15: 101,862,421 (GRCm39) V80A probably damaging Het
Lars2 G A 9: 123,247,841 (GRCm39) A333T possibly damaging Het
Lrrc4 G A 6: 28,830,515 (GRCm39) R367W probably damaging Het
Med1 A T 11: 98,080,009 (GRCm39) M44K possibly damaging Het
Mep1a T A 17: 43,788,986 (GRCm39) probably null Het
Mmrn1 A G 6: 60,952,819 (GRCm39) I367V probably benign Het
Myo18a T C 11: 77,738,830 (GRCm39) L1677P probably damaging Het
Neb T C 2: 52,209,717 (GRCm39) T246A probably benign Het
Nkiras1 A G 14: 18,280,073 (GRCm38) R155G probably benign Het
Nrip1 T C 16: 76,089,379 (GRCm39) N726S probably benign Het
Nyap2 A G 1: 81,219,156 (GRCm39) T393A possibly damaging Het
Oprm1 A T 10: 6,780,051 (GRCm39) I238F probably damaging Het
Or4b1b A G 2: 90,112,557 (GRCm39) Y121H probably damaging Het
Or4b1d G A 2: 89,969,489 (GRCm39) probably benign Het
Or5m11b T A 2: 85,805,764 (GRCm39) M59K probably damaging Het
Pcnx2 T A 8: 126,613,779 (GRCm39) E557D probably damaging Het
Pole A G 5: 110,472,425 (GRCm39) I1563V probably benign Het
Pramel21 C A 4: 143,341,851 (GRCm39) H93Q probably benign Het
Prdx3 T G 19: 60,859,848 (GRCm39) probably benign Het
Rgsl1 C T 1: 153,669,501 (GRCm39) R295K probably null Het
Rhbdl2 T A 4: 123,723,463 (GRCm39) L289* probably null Het
Rpgrip1 A G 14: 52,395,823 (GRCm39) probably benign Het
Ryr2 A T 13: 11,603,033 (GRCm39) Y4518N probably damaging Het
Scyl3 A G 1: 163,772,436 (GRCm39) N296S probably damaging Het
Sipa1l3 G A 7: 29,047,964 (GRCm39) T1308M probably damaging Het
Slc39a9 A G 12: 80,691,662 (GRCm39) D3G probably damaging Het
Slc4a9 A G 18: 36,662,740 (GRCm39) E165G probably benign Het
Slc6a3 A T 13: 73,686,776 (GRCm39) I48F probably benign Het
Stxbp3 C T 3: 108,709,476 (GRCm39) C354Y probably damaging Het
Terb1 C A 8: 105,199,674 (GRCm39) probably benign Het
Tfrc G A 16: 32,443,649 (GRCm39) probably null Het
Toporsl A C 4: 52,611,134 (GRCm39) R342S probably benign Het
Ube2d3 T A 3: 135,170,978 (GRCm39) W141R probably damaging Het
Vps13b G T 15: 35,910,486 (GRCm39) V3417L probably benign Het
Other mutations in Rnps1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01339:Rnps1 APN 17 24,641,273 (GRCm39) missense probably damaging 1.00
IGL01433:Rnps1 APN 17 24,643,519 (GRCm39) critical splice donor site probably null
IGL01984:Rnps1 APN 17 24,643,371 (GRCm39) splice site probably benign
unbalanced UTSW 17 24,641,142 (GRCm39) missense probably damaging 1.00
R0594:Rnps1 UTSW 17 24,643,411 (GRCm39) missense probably damaging 0.99
R1397:Rnps1 UTSW 17 24,631,031 (GRCm39) unclassified probably benign
R1938:Rnps1 UTSW 17 24,639,364 (GRCm39) missense unknown
R2321:Rnps1 UTSW 17 24,641,142 (GRCm39) missense probably damaging 1.00
R3085:Rnps1 UTSW 17 24,631,393 (GRCm39) unclassified probably benign
R3086:Rnps1 UTSW 17 24,631,393 (GRCm39) unclassified probably benign
R4296:Rnps1 UTSW 17 24,644,089 (GRCm39) unclassified probably benign
R5159:Rnps1 UTSW 17 24,637,486 (GRCm39) missense unknown
R5193:Rnps1 UTSW 17 24,637,517 (GRCm39) missense probably benign 0.23
R5753:Rnps1 UTSW 17 24,637,138 (GRCm39) intron probably benign
R7378:Rnps1 UTSW 17 24,637,504 (GRCm39) missense unknown
R7403:Rnps1 UTSW 17 24,644,061 (GRCm39) missense unknown
R7690:Rnps1 UTSW 17 24,637,168 (GRCm39) missense unknown
R8104:Rnps1 UTSW 17 24,643,484 (GRCm39) missense unknown
R8425:Rnps1 UTSW 17 24,637,143 (GRCm39) missense unknown
R8936:Rnps1 UTSW 17 24,641,176 (GRCm39) missense probably damaging 1.00
R9005:Rnps1 UTSW 17 24,637,496 (GRCm39) missense unknown
R9109:Rnps1 UTSW 17 24,637,573 (GRCm39) missense unknown
Posted On 2016-08-02