Incidental Mutation 'R5445:Rbms3'
ID 427413
Institutional Source Beutler Lab
Gene Symbol Rbms3
Ensembl Gene ENSMUSG00000039607
Gene Name RNA binding motif, single stranded interacting protein
Synonyms 6720477E09Rik, 8430436O14Rik
MMRRC Submission 043010-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R5445 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 116401814-117701749 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 117080853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 6 (D6V)
Ref Sequence ENSEMBL: ENSMUSP00000133621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044901] [ENSMUST00000068962] [ENSMUST00000111772] [ENSMUST00000111773] [ENSMUST00000172564] [ENSMUST00000174868] [ENSMUST00000164018]
AlphaFold Q8BWL5
Predicted Effect possibly damaging
Transcript: ENSMUST00000044901
AA Change: D6V

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000039706
Gene: ENSMUSG00000039607
AA Change: D6V

DomainStartEndE-ValueType
low complexity region 27 49 N/A INTRINSIC
RRM 57 125 1.2e-17 SMART
RRM 136 208 1.49e-13 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000068962
AA Change: D6V

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000066735
Gene: ENSMUSG00000039607
AA Change: D6V

DomainStartEndE-ValueType
low complexity region 27 49 N/A INTRINSIC
RRM 57 125 1.2e-17 SMART
RRM 136 208 1.49e-13 SMART
low complexity region 384 394 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000069095
Predicted Effect noncoding transcript
Transcript: ENSMUST00000084824
Predicted Effect possibly damaging
Transcript: ENSMUST00000111772
AA Change: D6V

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107402
Gene: ENSMUSG00000039607
AA Change: D6V

DomainStartEndE-ValueType
low complexity region 27 49 N/A INTRINSIC
RRM 57 125 1.2e-17 SMART
RRM 136 208 1.49e-13 SMART
low complexity region 385 395 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111773
AA Change: D6V

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107403
Gene: ENSMUSG00000039607
AA Change: D6V

DomainStartEndE-ValueType
low complexity region 27 49 N/A INTRINSIC
RRM 57 125 1.2e-17 SMART
RRM 136 208 1.49e-13 SMART
low complexity region 401 411 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174276
Predicted Effect probably benign
Transcript: ENSMUST00000172564
AA Change: D6V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134528
Gene: ENSMUSG00000039607
AA Change: D6V

DomainStartEndE-ValueType
low complexity region 26 48 N/A INTRINSIC
RRM 56 124 1.2e-17 SMART
RRM 135 204 4.78e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000174868
AA Change: D6V

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000133621
Gene: ENSMUSG00000039607
AA Change: D6V

DomainStartEndE-ValueType
low complexity region 27 49 N/A INTRINSIC
RRM 57 125 1.2e-17 SMART
RRM 136 208 1.49e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172075
Predicted Effect probably benign
Transcript: ENSMUST00000164018
SMART Domains Protein: ENSMUSP00000131371
Gene: ENSMUSG00000039607

DomainStartEndE-ValueType
low complexity region 76 98 N/A INTRINSIC
RRM 106 174 1.2e-17 SMART
RRM 185 257 1.49e-13 SMART
low complexity region 433 443 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA-binding protein that belongs to the c-myc gene single-strand binding protein family. 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. The encoded protein was isolated by virtue of its binding to an upstream element of the alpha2(I) collagen promoter. The observation that this protein localizes mostly in the cytoplasm suggests that it may be involved in a cytoplasmic function such as controlling RNA metabolism, rather than transcription. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,978,557 (GRCm39) D300E probably damaging Het
Apbb1ip T C 2: 22,725,960 (GRCm39) V244A possibly damaging Het
Arhgap32 T C 9: 32,159,678 (GRCm39) S232P probably benign Het
Atf7ip G A 6: 136,564,255 (GRCm39) V833M probably damaging Het
Casp7 A G 19: 56,421,770 (GRCm39) probably null Het
Ccdc9b T C 2: 118,590,067 (GRCm39) D259G probably damaging Het
Celsr2 T A 3: 108,299,974 (GRCm39) E2911D probably benign Het
Cep350 T C 1: 155,770,469 (GRCm39) D1807G probably benign Het
Cfap251 C T 5: 123,425,240 (GRCm39) T294M probably damaging Het
Chrd A G 16: 20,557,660 (GRCm39) T753A possibly damaging Het
Clasp2 A G 9: 113,733,014 (GRCm39) D971G probably damaging Het
Cnnm2 A G 19: 46,865,727 (GRCm39) T772A possibly damaging Het
Cntn1 A T 15: 92,192,958 (GRCm39) N687Y probably damaging Het
Col6a3 G A 1: 90,709,761 (GRCm39) R1812* probably null Het
Dsc2 T C 18: 20,168,360 (GRCm39) I700V possibly damaging Het
Flt3 G A 5: 147,291,905 (GRCm39) Q540* probably null Het
Fmo4 T A 1: 162,632,842 (GRCm39) I170F probably benign Het
Fra10ac1 T A 19: 38,207,910 (GRCm39) D72V possibly damaging Het
Garin2 G A 12: 78,761,890 (GRCm39) E185K probably damaging Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Gm2381 T G 7: 42,469,425 (GRCm39) H233P probably damaging Het
Gm5148 T A 3: 37,768,995 (GRCm39) Q75L probably damaging Het
Gm8369 T C 19: 11,482,170 (GRCm39) V27A possibly damaging Het
Gpr157 T C 4: 150,186,825 (GRCm39) S318P probably benign Het
Hectd4 G A 5: 121,404,337 (GRCm39) V405M probably benign Het
Hemgn T C 4: 46,400,738 (GRCm39) R41G probably benign Het
Hhipl1 T A 12: 108,294,467 (GRCm39) L791Q probably damaging Het
Hjurp T G 1: 88,194,038 (GRCm39) K290T probably benign Het
Ifi207 T C 1: 173,555,363 (GRCm39) E773G probably damaging Het
Kcnh6 T C 11: 105,914,685 (GRCm39) Y697H probably damaging Het
Lonrf2 T C 1: 38,846,234 (GRCm39) T313A probably benign Het
Lrba G T 3: 86,275,902 (GRCm39) V1757L probably benign Het
Lrrc24 T C 15: 76,600,306 (GRCm39) T278A probably benign Het
Ltbp2 T C 12: 84,856,428 (GRCm39) I679V probably null Het
Mapk4 G T 18: 74,064,073 (GRCm39) T383K probably benign Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Mia3 A G 1: 183,117,471 (GRCm39) V208A probably benign Het
Myo15a C A 11: 60,411,603 (GRCm39) C3234* probably null Het
Nlrp1b G T 11: 71,108,701 (GRCm39) Q267K probably benign Het
Nphp3 A G 9: 103,881,922 (GRCm39) K37E probably damaging Het
Nwd2 T C 5: 63,962,681 (GRCm39) M755T probably damaging Het
Or10u4 T A 10: 129,802,158 (GRCm39) H137L probably benign Het
Or52ac1 A G 7: 104,246,028 (GRCm39) F120S probably damaging Het
Or5p58 A G 7: 107,693,949 (GRCm39) V276A possibly damaging Het
Pdlim5 C T 3: 142,058,495 (GRCm39) R83K probably null Het
Plekha5 A T 6: 140,498,459 (GRCm39) R173* probably null Het
Pramel25 T A 4: 143,521,707 (GRCm39) V441E possibly damaging Het
Rhoq A T 17: 87,271,755 (GRCm39) Y57F probably benign Het
Rrm1 A T 7: 102,100,230 (GRCm39) T204S possibly damaging Het
Slf1 A T 13: 77,239,323 (GRCm39) I447N probably benign Het
Smarcc2 T A 10: 128,323,943 (GRCm39) probably benign Het
Spdye4c C T 2: 128,438,484 (GRCm39) Q281* probably null Het
Tert T A 13: 73,792,403 (GRCm39) M890K probably benign Het
Tln1 C A 4: 43,543,905 (GRCm39) R1198L probably benign Het
Tmco4 A G 4: 138,748,178 (GRCm39) M253V probably damaging Het
Usp19 G T 9: 108,375,119 (GRCm39) V782F possibly damaging Het
Usp33 T A 3: 152,080,260 (GRCm39) S464T probably damaging Het
Usp47 A T 7: 111,673,928 (GRCm39) Y397F probably damaging Het
Vmn1r12 A G 6: 57,136,466 (GRCm39) T144A probably benign Het
Vmn2r90 A T 17: 17,954,386 (GRCm39) H850L probably benign Het
Zfhx3 A T 8: 109,682,842 (GRCm39) Q3427L unknown Het
Zfp236 G T 18: 82,700,281 (GRCm39) Q63K probably benign Het
Zfp7 T A 15: 76,775,054 (GRCm39) C365* probably null Het
Zfp786 T C 6: 47,796,619 (GRCm39) E773G probably damaging Het
Other mutations in Rbms3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00917:Rbms3 APN 9 116,939,183 (GRCm39) missense probably damaging 0.99
IGL01859:Rbms3 APN 9 116,788,606 (GRCm39) missense probably damaging 1.00
IGL01962:Rbms3 APN 9 116,524,879 (GRCm39) splice site probably benign
IGL03034:Rbms3 APN 9 117,080,879 (GRCm39) utr 5 prime probably benign
PIT4810001:Rbms3 UTSW 9 116,885,861 (GRCm39) missense probably damaging 0.98
R0862:Rbms3 UTSW 9 117,458,860 (GRCm39) splice site probably benign
R0864:Rbms3 UTSW 9 117,458,860 (GRCm39) splice site probably benign
R0939:Rbms3 UTSW 9 116,939,028 (GRCm39) critical splice donor site probably null
R1796:Rbms3 UTSW 9 116,548,401 (GRCm39) missense probably damaging 1.00
R1808:Rbms3 UTSW 9 116,651,894 (GRCm39) missense probably damaging 1.00
R1826:Rbms3 UTSW 9 116,651,936 (GRCm39) missense probably damaging 1.00
R2213:Rbms3 UTSW 9 116,788,534 (GRCm39) critical splice donor site probably null
R3719:Rbms3 UTSW 9 116,411,930 (GRCm39) missense probably benign 0.11
R3935:Rbms3 UTSW 9 116,465,459 (GRCm39) missense probably damaging 1.00
R4270:Rbms3 UTSW 9 116,885,816 (GRCm39) missense probably damaging 1.00
R4822:Rbms3 UTSW 9 116,773,441 (GRCm39) intron probably benign
R4943:Rbms3 UTSW 9 116,507,573 (GRCm39) intron probably benign
R5997:Rbms3 UTSW 9 116,548,457 (GRCm39) missense probably damaging 1.00
R6848:Rbms3 UTSW 9 117,080,809 (GRCm39) missense probably damaging 1.00
R6944:Rbms3 UTSW 9 116,939,173 (GRCm39) missense probably damaging 0.99
R7205:Rbms3 UTSW 9 116,415,085 (GRCm39) critical splice donor site probably null
R7419:Rbms3 UTSW 9 116,651,894 (GRCm39) missense probably damaging 1.00
R8267:Rbms3 UTSW 9 116,885,823 (GRCm39) missense possibly damaging 0.86
R8984:Rbms3 UTSW 9 116,524,886 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AGAGAAAGCTACACTCCGGG -3'
(R):5'- CACGGTGTTGGAACTAGTGAGG -3'

Sequencing Primer
(F):5'- AAAGCTACACTCCGGGGCTTC -3'
(R):5'- GCTGGAGTCTGAGAAGCCTC -3'
Posted On 2016-09-01