Incidental Mutation 'R8542:Rbms1'
ID 659403
Institutional Source Beutler Lab
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
MMRRC Submission 068507-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8542 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 60580537-60793536 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 60612265 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 165 (V165G)
Ref Sequence ENSEMBL: ENSMUSP00000131306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028347] [ENSMUST00000112509] [ENSMUST00000164147]
AlphaFold Q91W59
Predicted Effect probably damaging
Transcript: ENSMUST00000028347
AA Change: V167G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028347
Gene: ENSMUSG00000026970
AA Change: V167G

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 damaging
Transcript: ENSMUST00000112509
AA Change: V134G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108128
Gene: ENSMUSG00000026970
AA Change: V134G

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 probably damaging
Transcript: ENSMUST00000164147
AA Change: V165G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131306
Gene: ENSMUSG00000026970
AA Change: V165G

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (58/58)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,634,369 (GRCm39) T634A probably benign Het
Abca12 C T 1: 71,349,047 (GRCm39) probably null Het
Acsl5 A G 19: 55,280,259 (GRCm39) T511A probably damaging Het
Alkbh1 A G 12: 87,478,275 (GRCm39) F212S probably damaging Het
Ankrd35 A G 3: 96,589,353 (GRCm39) I191V probably damaging Het
Apmap T C 2: 150,428,385 (GRCm39) Q254R probably benign Het
Atp10b A G 11: 43,121,208 (GRCm39) D957G probably benign Het
Bag6 G A 17: 35,363,334 (GRCm39) G725S probably damaging Het
Braf T C 6: 39,604,693 (GRCm39) H592R probably benign Het
Cilp A T 9: 65,185,405 (GRCm39) D500V probably damaging Het
Col27a1 T A 4: 63,239,662 (GRCm39) probably null Het
Defa3 T A 8: 21,778,179 (GRCm39) probably null Het
Dst C T 1: 34,231,688 (GRCm39) H3272Y possibly damaging Het
Egfl8 A G 17: 34,833,243 (GRCm39) C168R probably damaging Het
Eppk1 C T 15: 75,994,319 (GRCm39) R854Q probably benign Het
Gipc3 T A 10: 81,174,055 (GRCm39) M240L possibly damaging Het
Gm49368 T C 7: 127,679,433 (GRCm39) Y192H probably damaging Het
Ier5l A G 2: 30,362,948 (GRCm39) I359T possibly damaging Het
Impg1 C T 9: 80,312,080 (GRCm39) E168K probably damaging Het
Iqcn C A 8: 71,166,520 (GRCm39) probably null Het
Kcnq5 G A 1: 21,549,648 (GRCm39) R360C probably damaging Het
Kctd2 G T 11: 115,320,310 (GRCm39) probably benign Het
Kdm5b A T 1: 134,533,512 (GRCm39) M534L possibly damaging Het
Kif14 T A 1: 136,396,495 (GRCm39) V267D possibly damaging Het
Klra3 A T 6: 130,310,096 (GRCm39) probably null Het
Lmod1 T C 1: 135,292,221 (GRCm39) F359L possibly damaging Het
Mmp24 A G 2: 155,641,634 (GRCm39) E154G probably benign Het
Morc3 G T 16: 93,644,319 (GRCm39) probably null Het
Mtus2 A C 5: 148,240,408 (GRCm39) K85T probably damaging Het
Ncam1 G T 9: 49,419,898 (GRCm39) T806K probably damaging Het
Noc2l A G 4: 156,326,187 (GRCm39) T425A probably benign Het
Olfm3 A T 3: 114,916,196 (GRCm39) Q376L probably benign Het
Or52m2 A G 7: 102,263,872 (GRCm39) V108A probably benign Het
Pax5 A T 4: 44,570,071 (GRCm39) Y272N probably damaging Het
Pfkp G T 13: 6,631,557 (GRCm39) A166E possibly damaging Het
Pnpt1 C A 11: 29,082,773 (GRCm39) probably null Het
Prss40 A G 1: 34,596,967 (GRCm39) W76R probably damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rpl3l A G 17: 24,954,754 (GRCm39) D369G probably damaging Het
Sdr42e2 C A 7: 120,417,137 (GRCm39) P194Q probably damaging Het
Slc29a3 A G 10: 60,566,401 (GRCm39) S111P probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
St6galnac6 T A 2: 32,509,513 (GRCm39) I305N probably damaging Het
Tanc2 A G 11: 105,807,834 (GRCm39) E1288G probably damaging Het
Tdrd6 T C 17: 43,935,783 (GRCm39) E1755G probably damaging Het
Tenm4 A T 7: 96,461,139 (GRCm39) D895V probably damaging Het
Tmem190 T A 7: 4,787,157 (GRCm39) C120* probably null Het
Tmem209 C A 6: 30,497,237 (GRCm39) V318F probably damaging Het
Traf3ip3 T A 1: 192,876,851 (GRCm39) I196F probably damaging Het
Trpc4ap G C 2: 155,534,132 (GRCm39) P32R unknown Het
Usp20 T G 2: 30,901,636 (GRCm39) V467G possibly damaging Het
Vav3 A G 3: 109,410,787 (GRCm39) K206R probably damaging Het
Zbtb17 CCCCCACCTCCACAGACCCCA CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA 4: 141,194,139 (GRCm39) probably benign Het
Zfp629 C A 7: 127,210,364 (GRCm39) E482* probably null 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
IGL02565:Rbms1 APN 2 60,590,123 (GRCm39) missense probably benign
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
R9228:Rbms1 UTSW 2 60,610,087 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTAAGTCCACAGTACAACGGGC -3'
(R):5'- CAGCCTCGCTATGTAGTACTG -3'

Sequencing Primer
(F):5'- GTACAACGGGCTCCTATGAC -3'
(R):5'- CCTCGCTATGTAGTACTGAAAGGTC -3'
Posted On 2021-01-18