Incidental Mutation 'R8362:Rbms1'
ID 645983
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 067808-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8362 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 60580537-60793536 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 60793083 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 9 (M9I)
Ref Sequence ENSEMBL: ENSMUSP00000028347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028347]
AlphaFold Q91W59
Predicted Effect probably benign
Transcript: ENSMUST00000028347
AA Change: M9I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000028347
Gene: ENSMUSG00000026970
AA Change: M9I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009A15Rik T A 19: 8,867,395 (GRCm39) S65T probably damaging Het
Abcb1b A T 5: 8,848,758 (GRCm39) N6I probably benign Het
Abr A T 11: 76,369,954 (GRCm39) I145N probably benign Het
Alcam A T 16: 52,115,387 (GRCm39) Y244N probably damaging Het
Amotl1 G A 9: 14,556,218 (GRCm39) A36V probably benign Het
Ankrd11 A T 8: 123,618,797 (GRCm39) L1685Q probably damaging Het
Ascc3 A C 10: 50,518,692 (GRCm39) Q332H possibly damaging Het
Cdc42bpa C T 1: 179,989,690 (GRCm39) L1720F probably damaging Het
Clec4b1 T C 6: 123,027,602 (GRCm39) S20P probably benign Het
Cpt1a C T 19: 3,420,744 (GRCm39) R401* probably null Het
Dnah12 T A 14: 26,576,788 (GRCm39) Y3013N probably damaging Het
Dop1a G A 9: 86,395,941 (GRCm39) R801H probably benign Het
Flywch1 G T 17: 23,975,682 (GRCm39) T520N probably damaging Het
Fndc1 A G 17: 8,001,207 (GRCm39) S190P unknown Het
Gabra1 G T 11: 42,066,831 (GRCm39) Q28K probably benign Het
Gria2 T C 3: 80,615,197 (GRCm39) M428V possibly damaging Het
H13 T A 2: 152,528,311 (GRCm39) I220N unknown Het
Hars2 T A 18: 36,923,228 (GRCm39) F412L probably benign Het
Hecw2 A T 1: 54,079,650 (GRCm39) M1K probably null Het
Homer1 T A 13: 93,502,797 (GRCm39) S192T unknown Het
Itga2b T A 11: 102,352,189 (GRCm39) D464V probably damaging Het
Ivd T A 2: 118,708,422 (GRCm39) C379S probably damaging Het
Khdc3 A T 9: 73,010,848 (GRCm39) N233Y possibly damaging Het
Lrrc37 A G 11: 103,506,163 (GRCm39) V1935A probably benign Het
Lrrfip1 T A 1: 90,981,423 (GRCm39) L15Q probably damaging Het
Megf8 C A 7: 25,039,943 (GRCm39) P986Q probably benign Het
Morc2b G T 17: 33,357,295 (GRCm39) T159K possibly damaging Het
Nudt5 A G 2: 5,858,322 (GRCm39) probably null Het
Or6c211 G T 10: 129,506,100 (GRCm39) A96E possibly damaging Het
Paqr5 A T 9: 61,879,945 (GRCm39) Y116* probably null Het
Pcnx1 A C 12: 82,013,830 (GRCm39) S623R Het
Polr1a T C 6: 71,941,651 (GRCm39) V1053A probably benign Het
Ptprt A T 2: 161,393,667 (GRCm39) D1252E probably damaging Het
Qser1 A G 2: 104,620,246 (GRCm39) S189P probably damaging Het
Rasal1 C T 5: 120,813,485 (GRCm39) R620W probably damaging Het
Ska3 T C 14: 58,054,105 (GRCm39) N282D probably benign Het
Slc25a24 T A 3: 109,065,878 (GRCm39) I245N possibly damaging Het
Slc26a4 C T 12: 31,594,506 (GRCm39) V281I probably benign Het
Smg8 A T 11: 86,968,881 (GRCm39) Y958* probably null Het
Spata31 A G 13: 65,070,044 (GRCm39) T731A possibly damaging Het
Spg11 G T 2: 121,948,842 (GRCm39) A3D unknown Het
Srgap1 A G 10: 121,691,383 (GRCm39) Y284H possibly damaging Het
Stt3b A G 9: 115,083,988 (GRCm39) I396T probably damaging Het
Tnxb A G 17: 34,931,946 (GRCm39) T2160A probably damaging Het
Tprg1l G C 4: 154,244,815 (GRCm39) T91S possibly damaging Het
Ush2a G A 1: 188,689,650 (GRCm39) V5071I probably damaging Het
Vmn2r60 T A 7: 41,844,954 (GRCm39) N772K probably damaging Het
Vmn2r81 T A 10: 79,103,283 (GRCm39) W159R probably benign Het
Vmn2r93 G A 17: 18,546,353 (GRCm39) V742I probably benign Het
Zc3h13 C A 14: 75,561,909 (GRCm39) H654N unknown Het
Zfp516 T C 18: 83,005,019 (GRCm39) L641P probably benign Het
Zfp623 T C 15: 75,819,488 (GRCm39) V148A probably 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
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
R8542:Rbms1 UTSW 2 60,612,265 (GRCm39) missense probably damaging 1.00
R9228:Rbms1 UTSW 2 60,610,087 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTAGCAACCCCAGCACTTGC -3'
(R):5'- TTGATCACTCCTAGCTGGGC -3'

Sequencing Primer
(F):5'- GGTCCCTTCCTTTGGCGACCGTT -3'
(R):5'- TTGGCAGCTCGGGTACAGTC -3'
Posted On 2020-09-02