Incidental Mutation 'IGL01339:Rnps1'
ID 74773
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 # IGL01339
Quality Score
Status
Chromosome 17
Chromosomal Location 24633620-24644872 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24641273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 224 (D224E)
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 damaging
Transcript: ENSMUST00000088512
AA Change: D224E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085867
Gene: ENSMUSG00000034681
AA Change: D224E

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 damaging
Transcript: ENSMUST00000115371
AA Change: D201E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111028
Gene: ENSMUSG00000034681
AA Change: D201E

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 damaging
Transcript: ENSMUST00000163717
AA Change: D224E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126345
Gene: ENSMUSG00000034681
AA Change: D224E

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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bahcc1 A G 11: 120,180,338 (GRCm39) T2565A probably damaging Het
C8a A C 4: 104,685,182 (GRCm39) F354V probably benign Het
Cadps C T 14: 12,486,543 (GRCm38) V876M possibly damaging Het
Chmp7 A T 14: 69,956,855 (GRCm39) I351N probably damaging Het
Clec7a A T 6: 129,442,449 (GRCm39) W193R probably damaging Het
Clint1 T C 11: 45,799,846 (GRCm39) V535A probably benign Het
Clu A G 14: 66,213,037 (GRCm39) E141G probably damaging Het
Cmah A T 13: 24,614,532 (GRCm39) D159V probably damaging Het
Cntn2 A T 1: 132,446,643 (GRCm39) probably null Het
Cox6a1 C A 5: 115,483,898 (GRCm39) probably benign Het
Cyp2d10 C T 15: 82,288,042 (GRCm39) A195T probably benign Het
Dnah10 G T 5: 124,854,276 (GRCm39) K1901N probably damaging Het
Dnai3 T C 3: 145,748,591 (GRCm39) Y841C probably benign Het
Dop1a G A 9: 86,433,730 (GRCm39) D2329N possibly damaging Het
Eipr1 A G 12: 28,914,770 (GRCm39) E308G probably damaging Het
Exoc4 T C 6: 33,282,335 (GRCm39) probably benign Het
Fancd2 A G 6: 113,530,713 (GRCm39) I449V probably benign Het
Fbn2 T C 18: 58,246,442 (GRCm39) T487A possibly damaging Het
Fbxo40 T C 16: 36,790,816 (GRCm39) E98G probably damaging Het
Folh1 G A 7: 86,375,306 (GRCm39) T527I probably damaging Het
Gls C T 1: 52,227,867 (GRCm39) D217N probably damaging Het
Gm6994 A G 14: 77,718,618 (GRCm39) probably benign Het
Gpr149 A T 3: 62,511,718 (GRCm39) W94R probably damaging Het
Gpr158 A G 2: 21,373,842 (GRCm39) D259G possibly damaging Het
Hcn2 T C 10: 79,564,902 (GRCm39) L438P probably damaging Het
Hgd A C 16: 37,452,092 (GRCm39) T374P possibly damaging Het
Ints3 A G 3: 90,322,463 (GRCm39) probably null Het
Kctd5 A T 17: 24,276,749 (GRCm39) V172E probably damaging Het
Lmcd1 A G 6: 112,287,586 (GRCm39) I91V probably benign Het
Lrrc37a A G 11: 103,388,763 (GRCm39) S2221P unknown Het
Ltk T A 2: 119,583,455 (GRCm39) D310V probably damaging Het
Luzp1 T A 4: 136,270,087 (GRCm39) M770K probably damaging Het
Mxd4 G A 5: 34,341,690 (GRCm39) probably benign Het
Mzb1 T A 18: 35,781,399 (GRCm39) H71L probably benign Het
Necap2 G A 4: 140,802,276 (GRCm39) T63I probably benign Het
Nefl A G 14: 68,323,931 (GRCm39) probably benign Het
Odam G A 5: 88,033,755 (GRCm39) probably null Het
Pcdh18 A G 3: 49,710,247 (GRCm39) I356T probably benign Het
Pcx T A 19: 4,670,263 (GRCm39) probably null Het
Pde2a T C 7: 101,156,366 (GRCm39) S593P probably benign Het
Rapgef3 A T 15: 97,655,940 (GRCm39) L359M probably damaging Het
Rb1 T C 14: 73,501,811 (GRCm39) probably null Het
Rbm44 A G 1: 91,096,686 (GRCm39) I976V probably benign Het
Rdh13 A T 7: 4,430,623 (GRCm39) S278R probably damaging Het
Rgma A G 7: 73,067,231 (GRCm39) E256G probably damaging Het
Rnf112 A T 11: 61,341,303 (GRCm39) D402E probably benign Het
Scn10a C T 9: 119,451,832 (GRCm39) V1364M probably damaging Het
Scn1a C T 2: 66,156,304 (GRCm39) R535H probably benign Het
Scn8a A T 15: 100,930,082 (GRCm39) D1431V probably benign Het
Setdb1 A T 3: 95,245,891 (GRCm39) L677* probably null Het
Slc17a8 T A 10: 89,427,106 (GRCm39) I148F probably damaging Het
Slx4ip T A 2: 136,885,975 (GRCm39) C98* probably null Het
Sptbn2 T G 19: 4,796,000 (GRCm39) Y1726* probably null Het
Tcof1 T C 18: 60,951,167 (GRCm39) probably benign Het
Tdrd3 G A 14: 87,718,230 (GRCm39) V210I possibly damaging Het
Tdrd9 G A 12: 112,006,868 (GRCm39) V911M probably damaging Het
Tmod4 G A 3: 95,035,608 (GRCm39) R252H probably benign Het
Tti1 G T 2: 157,851,050 (GRCm39) P63Q possibly damaging Het
Tuft1 A T 3: 94,535,594 (GRCm39) D109E probably damaging Het
Zcchc2 T C 1: 105,957,505 (GRCm39) S659P probably damaging Het
Other mutations in Rnps1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03410:Rnps1 APN 17 24,640,835 (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 2013-10-07