Incidental Mutation 'IGL02565:Rbms1'
ID 298776
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbms1
Ensembl Gene ENSMUSG00000026970
Gene Name RNA binding motif, single stranded interacting protein 1
Synonyms MSSP-3, 2600014B10Rik, MSSP-2, YC1, MSSP-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02565
Quality Score
Status
Chromosome 2
Chromosomal Location 60580537-60793536 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60590123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 305 (Y305H)
Ref Sequence ENSEMBL: ENSMUSP00000131306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028347] [ENSMUST00000112509] [ENSMUST00000164147]
AlphaFold Q91W59
Predicted Effect probably benign
Transcript: ENSMUST00000028347
SMART Domains Protein: ENSMUSP00000028347
Gene: ENSMUSG00000026970

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: Y274H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108128
Gene: ENSMUSG00000026970
AA Change: Y274H

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: Y305H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131306
Gene: ENSMUSG00000026970
AA Change: Y305H

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 126,302,677 (GRCm39) S205R probably benign Het
Adora3 A G 3: 105,815,128 (GRCm39) T293A probably benign Het
App T C 16: 84,822,308 (GRCm39) probably null Het
Asap1 A G 15: 64,001,014 (GRCm39) probably benign Het
Brinp3 T A 1: 146,777,770 (GRCm39) V739E probably damaging Het
Bsn A G 9: 107,990,487 (GRCm39) V1755A probably damaging Het
Clmp A C 9: 40,683,711 (GRCm39) D147A probably damaging Het
Cntn5 A T 9: 10,145,343 (GRCm39) C122* probably null Het
Ctsb T G 14: 63,375,859 (GRCm39) C198G probably null Het
Cyld A T 8: 89,467,919 (GRCm39) R702S probably damaging Het
Cyp4v3 A G 8: 45,773,674 (GRCm39) V165A possibly damaging Het
Dpy19l4 C A 4: 11,309,440 (GRCm39) V59F probably benign Het
Eml1 A T 12: 108,472,779 (GRCm39) T196S probably damaging Het
Fam111a T A 19: 12,564,318 (GRCm39) D22E probably damaging Het
Gigyf2 A G 1: 87,369,858 (GRCm39) H1150R probably damaging Het
Grk5 T G 19: 61,057,809 (GRCm39) F170V probably damaging Het
Heatr5a A C 12: 51,997,882 (GRCm39) V339G possibly damaging Het
Hgd T A 16: 37,435,749 (GRCm39) D153E possibly damaging Het
Ift70b A G 2: 75,768,247 (GRCm39) Y169H probably benign Het
Igdcc3 T A 9: 65,087,470 (GRCm39) L336Q probably damaging Het
Jph2 T C 2: 163,239,265 (GRCm39) E61G probably damaging Het
Ktn1 A T 14: 47,910,391 (GRCm39) probably benign Het
Lrch3 T A 16: 32,826,084 (GRCm39) D634E probably benign Het
Marchf6 T C 15: 31,490,712 (GRCm39) probably benign Het
Misp T A 10: 79,662,177 (GRCm39) I198N probably benign Het
Mmp14 C T 14: 54,678,014 (GRCm39) P545L probably benign Het
Mon1b G T 8: 114,365,455 (GRCm39) R261L possibly damaging Het
Muc5b T C 7: 141,411,604 (GRCm39) S1517P unknown Het
Nae1 A T 8: 105,237,841 (GRCm39) N518K probably damaging Het
Pglyrp4 A T 3: 90,642,794 (GRCm39) D225V probably benign Het
Pgpep1 A G 8: 71,105,119 (GRCm39) I47T probably damaging Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Pitpnc1 G A 11: 107,187,059 (GRCm39) T88I probably damaging Het
Poldip2 T C 11: 78,408,678 (GRCm39) I181T probably damaging Het
Ppfia2 T C 10: 106,699,247 (GRCm39) probably null Het
Rasal1 A G 5: 120,814,845 (GRCm39) probably benign Het
Rnf123 A C 9: 107,929,411 (GRCm39) probably null Het
Sec14l3 G A 11: 4,026,237 (GRCm39) probably benign Het
Slc2a10 A C 2: 165,357,000 (GRCm39) D220A probably damaging Het
Slc38a8 T C 8: 120,212,300 (GRCm39) T348A probably damaging Het
Slc4a5 T C 6: 83,276,487 (GRCm39) V1104A probably benign Het
Snrpe T C 1: 133,536,704 (GRCm39) probably benign Het
Th C A 7: 142,453,647 (GRCm39) V18F probably damaging Het
Ubqln5 G A 7: 103,778,279 (GRCm39) Q182* probably null Het
Unc5c T C 3: 141,509,680 (GRCm39) V646A probably damaging Het
Wasf1 A G 10: 40,812,128 (GRCm39) N306D possibly damaging Het
Other mutations in Rbms1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00813:Rbms1 APN 2 60,628,049 (GRCm39) missense probably damaging 1.00
IGL01131:Rbms1 APN 2 60,589,180 (GRCm39) missense probably benign 0.00
IGL02662:Rbms1 APN 2 60,592,650 (GRCm39) missense probably damaging 1.00
ANU74:Rbms1 UTSW 2 60,628,060 (GRCm39) missense probably damaging 1.00
R0077:Rbms1 UTSW 2 60,589,179 (GRCm39) missense possibly damaging 0.48
R0279:Rbms1 UTSW 2 60,672,754 (GRCm39) missense probably damaging 0.99
R0718:Rbms1 UTSW 2 60,672,756 (GRCm39) missense probably damaging 0.99
R1582:Rbms1 UTSW 2 60,589,179 (GRCm39) missense possibly damaging 0.48
R2151:Rbms1 UTSW 2 60,592,392 (GRCm39) splice site probably null
R4812:Rbms1 UTSW 2 60,623,113 (GRCm39) missense possibly damaging 0.74
R5109:Rbms1 UTSW 2 60,612,284 (GRCm39) missense probably damaging 1.00
R6925:Rbms1 UTSW 2 60,592,648 (GRCm39) missense probably benign 0.03
R7513:Rbms1 UTSW 2 60,589,165 (GRCm39) missense probably damaging 1.00
R8362:Rbms1 UTSW 2 60,793,083 (GRCm39) missense probably benign 0.01
R8542:Rbms1 UTSW 2 60,612,265 (GRCm39) missense probably damaging 1.00
R9228:Rbms1 UTSW 2 60,610,087 (GRCm39) missense probably benign
Posted On 2015-04-16