Incidental Mutation 'IGL01131:Rbms1'
ID50589
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbms1
Ensembl Gene ENSMUSG00000026970
Gene NameRNA binding motif, single stranded interacting protein 1
SynonymsMSSP-1, 2600014B10Rik, YC1, MSSP-2, MSSP-3
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01131
Quality Score
Status
Chromosome2
Chromosomal Location60750193-60963192 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 60758836 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 287 (M287V)
Ref Sequence ENSEMBL: ENSMUSP00000108128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028347] [ENSMUST00000112509] [ENSMUST00000164147]
Predicted Effect probably benign
Transcript: ENSMUST00000028347
AA Change: M304V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028347
Gene: ENSMUSG00000026970
AA Change: M304V

DomainStartEndE-ValueType
low complexity region 7 24 N/A INTRINSIC
low complexity region 36 54 N/A INTRINSIC
RRM 63 131 4.56e-18 SMART
RRM 142 213 2.43e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112509
AA Change: M287V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000108128
Gene: ENSMUSG00000026970
AA Change: M287V

DomainStartEndE-ValueType
low complexity region 3 21 N/A INTRINSIC
RRM 30 98 4.56e-18 SMART
RRM 109 180 2.43e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123046
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153555
Predicted Effect probably benign
Transcript: ENSMUST00000164147
AA Change: M318V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000131306
Gene: ENSMUSG00000026970
AA Change: M318V

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
low complexity region 34 52 N/A INTRINSIC
RRM 61 129 4.56e-18 SMART
RRM 140 211 2.43e-13 SMART
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 member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. Several transcript variants, resulting from alternative splicing and encoding different isoforms, have been described. A pseudogene for this locus is found on chromosome 12. [provided by RefSeq, Feb 2009]
PHENOTYPE: Only about half the expected number of mice homozygous for disruptions in this gene are produced in matings of heterozygotes. Embryo sizes are reduced. Females have smaller than normal uteri and decreased levels of progesterone during estrus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Adgrf5 G T 17: 43,422,509 D75Y possibly damaging Het
Cfap20 T C 8: 95,424,659 D18G probably damaging Het
Cpne3 T C 4: 19,543,318 D160G probably damaging Het
Ercc3 A G 18: 32,269,889 *784W probably null Het
Fam53b T C 7: 132,715,782 E377G probably damaging Het
Far2 T C 6: 148,150,598 V125A possibly damaging Het
Fasn T C 11: 120,814,619 E1192G probably benign Het
Irf5 A G 6: 29,536,103 E372G probably damaging Het
Kif2c C T 4: 117,172,365 V140M probably damaging Het
Klre1 T C 6: 129,584,170 F165L possibly damaging Het
Kmt2a C T 9: 44,821,170 probably benign Het
Lrp2 C T 2: 69,499,239 C1728Y probably damaging Het
Muc4 C A 16: 32,753,901 T1259N possibly damaging Het
Nlrp9b A G 7: 20,023,537 D233G probably damaging Het
Nuf2 T C 1: 169,522,364 probably benign Het
Nynrin A G 14: 55,872,685 K1750E probably damaging Het
Olfr1463 A G 19: 13,234,739 D163G probably benign Het
Parp4 C A 14: 56,585,760 probably benign Het
Rhox3c G A X: 37,470,329 R71K probably damaging Het
Rufy1 A G 11: 50,392,023 L638P probably damaging Het
Slc15a3 G A 19: 10,857,622 probably benign Het
Slc26a9 T C 1: 131,755,542 probably null Het
Slc6a13 A G 6: 121,321,641 Y150C probably damaging Het
Slitrk6 A T 14: 110,751,576 L233Q probably damaging Het
Ugt3a2 T A 15: 9,365,162 I287N probably damaging Het
Unc13c T C 9: 73,564,053 N1778S probably benign Het
Vmn1r212 T C 13: 22,883,159 N335D unknown Het
Wdfy1 C T 1: 79,713,872 V273I probably benign Het
Other mutations in Rbms1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00813:Rbms1 APN 2 60797705 missense probably damaging 1.00
IGL02565:Rbms1 APN 2 60759779 missense probably benign
IGL02662:Rbms1 APN 2 60762306 missense probably damaging 1.00
ANU74:Rbms1 UTSW 2 60797716 missense probably damaging 1.00
R0077:Rbms1 UTSW 2 60758835 missense possibly damaging 0.48
R0279:Rbms1 UTSW 2 60842410 missense probably damaging 0.99
R0718:Rbms1 UTSW 2 60842412 missense probably damaging 0.99
R1582:Rbms1 UTSW 2 60758835 missense possibly damaging 0.48
R2151:Rbms1 UTSW 2 60762048 splice site probably null
R4812:Rbms1 UTSW 2 60792769 missense possibly damaging 0.74
R5109:Rbms1 UTSW 2 60781940 missense probably damaging 1.00
R6925:Rbms1 UTSW 2 60762304 missense probably benign 0.03
Posted On2013-06-21