Incidental Mutation 'R5109:Rbms1'
ID 393715
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 042697-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5109 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 60580537-60793536 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 60612284 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 161 (L161F)
Ref Sequence ENSEMBL: ENSMUSP00000028347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028347] [ENSMUST00000112509] [ENSMUST00000164147]
AlphaFold Q91W59
Predicted Effect probably damaging
Transcript: ENSMUST00000028347
AA Change: L161F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028347
Gene: ENSMUSG00000026970
AA Change: L161F

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: L128F

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108128
Gene: ENSMUSG00000026970
AA Change: L128F

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: ENSMUST00000153555
Predicted Effect possibly damaging
Transcript: ENSMUST00000164147
AA Change: L159F

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000131306
Gene: ENSMUSG00000026970
AA Change: L159F

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
Meta Mutation Damage Score 0.1021 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.2%
Validation Efficiency 95% (78/82)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd17 T C 5: 90,391,395 (GRCm39) S1841G possibly damaging Het
Anxa10 T C 8: 62,516,093 (GRCm39) E193G possibly damaging Het
Ap3d1 T C 10: 80,545,284 (GRCm39) S1056G probably benign Het
Apbb1 T C 7: 105,214,242 (GRCm39) N62D probably damaging Het
Apobec2 A T 17: 48,730,022 (GRCm39) Y215N probably damaging Het
Apobec2 T A 17: 48,730,024 (GRCm39) Y214F probably damaging Het
Appl2 A T 10: 83,436,871 (GRCm39) V630E probably benign Het
Bud23 T C 5: 135,089,877 (GRCm39) probably benign Het
Cacna1b A T 2: 24,580,797 (GRCm39) M683K possibly damaging Het
Cbfa2t2 T A 2: 154,373,293 (GRCm39) D187E probably damaging Het
Cfap54 G T 10: 92,773,753 (GRCm39) F96L probably benign Het
Cimap1a A T 7: 140,429,461 (GRCm39) S197C probably benign Het
Crebbp A G 16: 3,906,295 (GRCm39) probably benign Het
Crocc C T 4: 140,755,722 (GRCm39) R1102Q probably damaging Het
Dcaf12 T C 4: 41,298,329 (GRCm39) D273G possibly damaging Het
Dchs1 T C 7: 105,414,221 (GRCm39) T865A probably benign Het
Dhfr A T 13: 92,491,788 (GRCm39) I8F probably damaging Het
Dnaja2 A T 8: 86,279,887 (GRCm39) F97L possibly damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Doc2b T C 11: 75,667,967 (GRCm39) D261G probably benign Het
Ear1 A G 14: 44,056,485 (GRCm39) Y128H probably benign Het
Elac2 T A 11: 64,883,142 (GRCm39) I171N probably damaging Het
Entpd3 C A 9: 120,395,380 (GRCm39) N454K possibly damaging Het
Flrt3 A G 2: 140,502,663 (GRCm39) S322P possibly damaging Het
Fn1 C T 1: 71,688,394 (GRCm39) C170Y probably damaging Het
Gabbr1 T A 17: 37,382,920 (GRCm39) probably benign Het
Gm7247 T G 14: 51,602,774 (GRCm39) S37A probably damaging Het
Gm8775 T A 3: 4,277,008 (GRCm39) noncoding transcript Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Gria4 A C 9: 4,472,168 (GRCm39) N440K probably damaging Het
H2-T22 T A 17: 36,350,113 (GRCm39) R334* probably null Het
Ift172 T C 5: 31,423,330 (GRCm39) D817G probably benign Het
Igkv9-124 T A 6: 67,919,348 (GRCm39) R21S possibly damaging Het
Itgam G A 7: 127,712,390 (GRCm39) V846I probably benign Het
Kif11 T A 19: 37,373,063 (GRCm39) M94K possibly damaging Het
Krtcap2 T C 3: 89,154,085 (GRCm39) V2A probably benign Het
Lrrc47 A G 4: 154,101,933 (GRCm39) D400G probably damaging Het
Man2a1 T A 17: 65,059,443 (GRCm39) V1110E probably benign Het
Mfsd9 T A 1: 40,813,365 (GRCm39) I317F probably damaging Het
Mindy4 A T 6: 55,193,730 (GRCm39) probably null Het
Mrpl53 A G 6: 83,086,541 (GRCm39) T82A probably damaging Het
Myo3b A G 2: 69,925,637 (GRCm39) K35E possibly damaging Het
Nalcn A G 14: 123,515,650 (GRCm39) V1717A possibly damaging Het
Ncoa2 A G 1: 13,257,070 (GRCm39) V143A probably damaging Het
Ndufa9 A C 6: 126,809,520 (GRCm39) probably null Het
Or10ag60 G A 2: 87,438,319 (GRCm39) G196R possibly damaging Het
Or10ag60 G A 2: 87,437,755 (GRCm39) A8T possibly damaging Het
Or12e9 A G 2: 87,201,878 (GRCm39) M1V probably null Het
Or5k17 A G 16: 58,746,422 (GRCm39) S171P probably benign Het
Or5p55 T C 7: 107,567,104 (GRCm39) S167P probably benign Het
Or6c202 T C 10: 128,996,106 (GRCm39) Y249C probably damaging Het
Or7g28 A T 9: 19,272,438 (GRCm39) I71N probably damaging Het
Or9g8 G A 2: 85,607,668 (GRCm39) V247M probably damaging Het
Pde4b G T 4: 102,458,741 (GRCm39) A466S probably damaging Het
Pfkfb3 A T 2: 11,491,162 (GRCm39) probably benign Het
Ppp1r21 A G 17: 88,866,268 (GRCm39) K355E probably damaging Het
Psme4 T A 11: 30,741,095 (GRCm39) Y90* probably null Het
Rdh16f2 A G 10: 127,702,672 (GRCm39) D83G probably damaging Het
Sec16b C T 1: 157,392,361 (GRCm39) R910* probably null Het
Sema4c CTGGGCTT C 1: 36,591,381 (GRCm39) probably null Het
Spata31e5 T C 1: 28,816,636 (GRCm39) I465M possibly damaging Het
Stambp A G 6: 83,540,803 (GRCm39) probably null Het
Tcf21 T C 10: 22,695,558 (GRCm39) N82S probably damaging Het
Tlr2 A T 3: 83,745,030 (GRCm39) V351D probably damaging Het
Tmem39a G A 16: 38,411,326 (GRCm39) G359D probably damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vmn2r17 C A 5: 109,577,342 (GRCm39) F464L probably benign Het
Vmn2r49 T A 7: 9,710,204 (GRCm39) T843S probably benign Het
Vmn2r7 T C 3: 64,598,088 (GRCm39) D823G probably null Het
Wrnip1 T A 13: 33,000,319 (GRCm39) L442Q probably damaging Het
Zbtb38 G T 9: 96,569,062 (GRCm39) S674Y probably damaging Het
Zfp639 T G 3: 32,574,585 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- CACAGTACAACGGGCTCCTATG -3'
(R):5'- ATACATACCCAGCCTCGCTATG -3'

Sequencing Primer
(F):5'- AACGGGCTCCTATGACCCTG -3'
(R):5'- CCTCGCTATGTAGTACTGAAAGGTC -3'
Posted On 2016-06-15