Incidental Mutation 'R3086:Rnps1'
ID 346534
Institutional Source Beutler Lab
Gene Symbol Rnps1
Ensembl Gene ENSMUSG00000034681
Gene Name RNA binding protein with serine rich domain 1
Synonyms
MMRRC Submission 040575-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3086 (G1)
Quality Score 35
Status Validated
Chromosome 17
Chromosomal Location 24633620-24644872 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 24631393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039013] [ENSMUST00000079594] [ENSMUST00000088512] [ENSMUST00000115371] [ENSMUST00000117337] [ENSMUST00000163717]
AlphaFold Q99M28
Predicted Effect probably benign
Transcript: ENSMUST00000039013
SMART Domains Protein: ENSMUSP00000045285
Gene: ENSMUSG00000024130

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 21 469 2.1e-29 PFAM
AAA 558 740 5.17e-10 SMART
Pfam:ABC2_membrane_3 923 1323 1.8e-35 PFAM
AAA 1408 1592 1.64e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000079594
SMART Domains Protein: ENSMUSP00000078544
Gene: ENSMUSG00000024130

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 22 469 2.6e-28 PFAM
AAA 558 740 5.17e-10 SMART
Pfam:ABC2_membrane_3 923 1323 5.5e-39 PFAM
AAA 1408 1592 1.64e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000084725
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: ENSMUST00000117337
SMART Domains Protein: ENSMUSP00000113538
Gene: ENSMUSG00000024130

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 21 469 1.3e-29 PFAM
AAA 558 740 5.17e-10 SMART
Pfam:ABC2_membrane_3 761 1068 8.8e-29 PFAM
AAA 1153 1337 1.64e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181014
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180721
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181760
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180579
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (42/42)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310039H08Rik T C 17: 47,083,881 (GRCm39) L48P probably damaging Het
Adgra3 A T 5: 50,170,733 (GRCm39) probably null Het
Alms1 A G 6: 85,655,122 (GRCm39) R3223G probably benign Het
Bltp1 A G 3: 37,065,852 (GRCm39) D3483G possibly damaging Het
Cabyr T C 18: 12,884,023 (GRCm39) V170A probably damaging Het
Ces2b A T 8: 105,559,401 (GRCm39) D89V possibly damaging Het
Dhrs2 G T 14: 55,477,301 (GRCm39) V179L probably benign Het
Dlg5 T C 14: 24,216,258 (GRCm39) T595A probably damaging Het
Dock10 T C 1: 80,510,074 (GRCm39) N1585D possibly damaging Het
Dock4 T C 12: 40,781,862 (GRCm39) I689T probably benign Het
Fgfr4 G T 13: 55,315,205 (GRCm39) probably benign Het
Frk G A 10: 34,483,950 (GRCm39) G437D probably damaging Het
Frzb T G 2: 80,248,858 (GRCm39) I199L possibly damaging Het
Gsg1l C T 7: 125,490,852 (GRCm39) R284H probably benign Het
Helq A G 5: 100,921,858 (GRCm39) L782S probably benign Het
Kif20b T C 19: 34,907,115 (GRCm39) F128S probably damaging Het
Kifc2 T C 15: 76,551,452 (GRCm39) F725L probably benign Het
Lekr1 A G 3: 65,634,581 (GRCm39) noncoding transcript Het
Macf1 T A 4: 123,328,901 (GRCm39) M2490L probably benign Het
Megf8 T A 7: 25,048,444 (GRCm39) Y1706N probably damaging Het
N4bp2 A G 5: 65,948,396 (GRCm39) Y342C probably damaging Het
Nf1 T C 11: 79,437,812 (GRCm39) C2057R probably damaging Het
Or4f60 C A 2: 111,902,320 (GRCm39) G203* probably null Het
Or4k36 A G 2: 111,146,461 (GRCm39) I212M probably benign Het
Or6c88 G A 10: 129,407,276 (GRCm39) G251S probably damaging Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pcdha1 G C 18: 37,064,001 (GRCm39) E222Q possibly damaging Het
Prune2 A T 19: 17,098,777 (GRCm39) D1427V possibly damaging Het
Rsph4a G C 10: 33,785,198 (GRCm39) V370L probably damaging Het
Sema5b T A 16: 35,443,093 (GRCm39) S33T probably benign Het
Stk-ps2 A C 1: 46,068,236 (GRCm39) noncoding transcript Het
Tep1 A T 14: 51,064,511 (GRCm39) probably null Het
Tet1 T C 10: 62,715,400 (GRCm39) K132E probably benign Het
Tiam2 A G 17: 3,471,857 (GRCm39) K500E probably damaging Het
Tmem131l G T 3: 83,839,046 (GRCm39) R635S probably benign Het
Tmem68 T C 4: 3,569,594 (GRCm39) E32G possibly damaging Het
Vmn2r101 T A 17: 19,809,077 (GRCm39) probably null Het
Zfp780b A G 7: 27,663,055 (GRCm39) I500T probably damaging Het
Zfyve26 G T 12: 79,312,457 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- GGTACACTTGATTTATAAAGCCCAG -3'
(R):5'- ACCGAAGAAGCTGGGCTAAC -3'

Sequencing Primer
(F):5'- ATAAAGCCCAGGATATTTAGCAAC -3'
(R):5'- GGGCTAACAGCTTCTCCC -3'
Posted On 2015-09-29