Incidental Mutation 'R8104:Rnps1'
ID 630670
Institutional Source Beutler Lab
Gene Symbol Rnps1
Ensembl Gene ENSMUSG00000034681
Gene Name RNA binding protein with serine rich domain 1
Synonyms
MMRRC Submission 067535-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8104 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 24633620-24644872 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24643484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 262 (M262K)
Ref Sequence ENSEMBL: ENSMUSP00000085867 (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 unknown
Transcript: ENSMUST00000088512
AA Change: M262K
SMART Domains Protein: ENSMUSP00000085867
Gene: ENSMUSG00000034681
AA Change: M262K

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 unknown
Transcript: ENSMUST00000115371
AA Change: M239K
SMART Domains Protein: ENSMUSP00000111028
Gene: ENSMUSG00000034681
AA Change: M239K

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 unknown
Transcript: ENSMUST00000163717
AA Change: M262K
SMART Domains Protein: ENSMUSP00000126345
Gene: ENSMUSG00000034681
AA Change: M262K

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
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 98.6%
  • 20x: 94.6%
Validation Efficiency 98% (54/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg2 C A 17: 57,152,443 (GRCm39) L666F probably benign Het
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
Apoc3 T G 9: 46,144,585 (GRCm39) D79A probably damaging Het
Arfgap1 T A 2: 180,621,022 (GRCm39) probably null Het
Ascc1 T C 10: 59,843,551 (GRCm39) S38P probably benign Het
Asl C T 5: 130,040,791 (GRCm39) E389K probably benign Het
Atat1 A T 17: 36,215,008 (GRCm39) I215K probably benign Het
Bod1l A T 5: 41,991,075 (GRCm39) L160* probably null Het
Cbl C A 9: 44,069,836 (GRCm39) S637I possibly damaging Het
Ccdc112 A C 18: 46,420,720 (GRCm39) S343R probably benign Het
Cr1l A G 1: 194,799,925 (GRCm39) S250P possibly damaging Het
Cspg4b T A 13: 113,456,263 (GRCm39) F770I Het
Dlgap3 A G 4: 127,129,947 (GRCm39) E907G probably damaging Het
Dsp A T 13: 38,352,600 (GRCm39) E159D probably benign Het
Ech1 G A 7: 28,524,728 (GRCm39) probably benign Het
Erbin G T 13: 103,971,485 (GRCm39) N710K possibly damaging Het
Fbxw28 A T 9: 109,155,357 (GRCm39) probably null Het
Gm4871 G C 5: 144,969,012 (GRCm39) D100E probably damaging Het
Got1l1 A G 8: 27,687,619 (GRCm39) I388T probably damaging Het
Ing5 T A 1: 93,744,166 (GRCm39) N184K probably damaging Het
Izumo3 A T 4: 92,035,145 (GRCm39) L24* probably null Het
Lig1 T C 7: 13,020,491 (GRCm39) V99A possibly damaging Het
Mbtps1 A G 8: 120,255,794 (GRCm39) Y488H possibly damaging Het
Muc5ac A G 7: 141,358,520 (GRCm39) Y1240C possibly damaging Het
Nav3 T C 10: 109,594,828 (GRCm39) T1458A probably damaging Het
Nedd1 T C 10: 92,527,778 (GRCm39) E472G probably damaging Het
Nod2 A T 8: 89,391,685 (GRCm39) H664L possibly damaging Het
Ntrk3 A G 7: 78,227,450 (GRCm39) S28P probably damaging Het
Or14a257 A G 7: 86,138,231 (GRCm39) F176S probably damaging Het
Or1i2 C T 10: 78,448,242 (GRCm39) V78I probably benign Het
Or2ag17 T A 7: 106,390,338 (GRCm39) probably benign Het
Or2ag17 C A 7: 106,390,337 (GRCm39) probably benign Het
Or6c66b T A 10: 129,376,826 (GRCm39) M140K probably benign Het
Pcdha4 G T 18: 37,087,106 (GRCm39) G430W probably damaging Het
Pcnx1 T A 12: 82,030,385 (GRCm39) Y1114* probably null Het
Pde6a T A 18: 61,364,566 (GRCm39) D207E probably damaging Het
Plekhg1 T A 10: 3,902,326 (GRCm39) I540N Het
Pnp2 A T 14: 51,197,099 (GRCm39) I62F probably benign Het
Rarg C A 15: 102,148,334 (GRCm39) D258Y probably damaging Het
Scaf11 T C 15: 96,316,483 (GRCm39) D1027G probably benign Het
Serpina3a A T 12: 104,079,110 (GRCm39) probably benign Het
Slc25a1 A G 16: 17,744,297 (GRCm39) probably null Het
Slc44a3 A C 3: 121,291,521 (GRCm39) V365G probably benign Het
Slc45a3 T C 1: 131,904,754 (GRCm39) F26L probably benign Het
Slc9a2 T A 1: 40,757,809 (GRCm39) I116K probably damaging Het
Stk36 T A 1: 74,665,756 (GRCm39) S700T probably benign Het
Tekt3 A G 11: 62,968,945 (GRCm39) D224G probably benign Het
Tgtp1 A T 11: 48,877,841 (GRCm39) I288N probably damaging Het
Ttn C T 2: 76,710,567 (GRCm39) V8485M unknown Het
Tubg1 G T 11: 101,014,854 (GRCm39) A199S probably benign Het
Uso1 T A 5: 92,306,280 (GRCm39) I79K probably damaging Het
Utp20 C T 10: 88,593,766 (GRCm39) D2215N probably damaging Het
Wdr43 C T 17: 71,923,350 (GRCm39) A32V probably benign Het
Zfp704 T C 3: 9,630,301 (GRCm39) D170G 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
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
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
Predicted Primers PCR Primer
(F):5'- ACTTCCCTGACATAGATGGGG -3'
(R):5'- CCTGCTTGTCAACACCACAG -3'

Sequencing Primer
(F):5'- TACAACAAGGTGGCTACTGAGTCTC -3'
(R):5'- GTCAACACCACAGATTTTGACTGTC -3'
Posted On 2020-06-30