Incidental Mutation 'R1826:Rbms3'
ID 206805
Institutional Source Beutler Lab
Gene Symbol Rbms3
Ensembl Gene ENSMUSG00000039607
Gene Name RNA binding motif, single stranded interacting protein
Synonyms 6720477E09Rik, 8430436O14Rik
MMRRC Submission 039853-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R1826 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 116401814-117701749 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 116651936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 137 (Y137F)
Ref Sequence ENSEMBL: ENSMUSP00000134528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044901] [ENSMUST00000068962] [ENSMUST00000111772] [ENSMUST00000111773] [ENSMUST00000164018] [ENSMUST00000174868] [ENSMUST00000172564] [ENSMUST00000173429]
AlphaFold Q8BWL5
Predicted Effect probably damaging
Transcript: ENSMUST00000044901
AA Change: Y138F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039706
Gene: ENSMUSG00000039607
AA Change: Y138F

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 probably damaging
Transcript: ENSMUST00000068962
AA Change: Y138F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066735
Gene: ENSMUSG00000039607
AA Change: Y138F

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 probably damaging
Transcript: ENSMUST00000111772
AA Change: Y138F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107402
Gene: ENSMUSG00000039607
AA Change: Y138F

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 probably damaging
Transcript: ENSMUST00000111773
AA Change: Y138F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107403
Gene: ENSMUSG00000039607
AA Change: Y138F

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 probably damaging
Transcript: ENSMUST00000164018
AA Change: Y187F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131371
Gene: ENSMUSG00000039607
AA Change: Y187F

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
Predicted Effect probably damaging
Transcript: ENSMUST00000174868
AA Change: Y138F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133621
Gene: ENSMUSG00000039607
AA Change: Y138F

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 probably damaging
Transcript: ENSMUST00000172564
AA Change: Y137F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134528
Gene: ENSMUSG00000039607
AA Change: Y137F

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 probably benign
Transcript: ENSMUST00000172469
SMART Domains Protein: ENSMUSP00000134172
Gene: ENSMUSG00000039607

DomainStartEndE-ValueType
Pfam:RRM_1 1 50 9.8e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173429
SMART Domains Protein: ENSMUSP00000133900
Gene: ENSMUSG00000039607

DomainStartEndE-ValueType
Blast:RRM 1 50 2e-29 BLAST
PDB:1X5O|A 1 60 3e-31 PDB
SCOP:d1h6kx_ 1 62 4e-9 SMART
Meta Mutation Damage Score 0.4637 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.0%
Validation Efficiency 95% (116/122)
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: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T C 19: 43,810,453 (GRCm39) S917P probably benign Het
Acsbg1 C T 9: 54,529,840 (GRCm39) V256M possibly damaging Het
Adam34 T A 8: 44,104,379 (GRCm39) D422V probably damaging Het
Adam6a T A 12: 113,509,742 (GRCm39) V705E possibly damaging Het
Adamts12 C A 15: 11,071,606 (GRCm39) P50Q probably benign Het
Arfgap3 C T 15: 83,187,303 (GRCm39) probably null Het
Aspg T A 12: 112,089,852 (GRCm39) D463E probably damaging Het
Atad2b G A 12: 5,024,094 (GRCm39) S73N probably benign Het
Atp11a T C 8: 12,896,154 (GRCm39) L788P probably damaging Het
B3gnt8 T C 7: 25,328,188 (GRCm39) F206S probably damaging Het
Baz2b T C 2: 59,799,077 (GRCm39) E349G probably benign Het
Bmp2k A T 5: 97,209,261 (GRCm39) probably benign Het
Camta2 A G 11: 70,574,134 (GRCm39) F128L probably damaging Het
Ccdc88a A T 11: 29,439,637 (GRCm39) Q30L possibly damaging Het
Cdh1 T C 8: 107,392,898 (GRCm39) M794T probably benign Het
Cdh5 A G 8: 104,857,723 (GRCm39) N383S possibly damaging Het
Cep85l T C 10: 53,224,908 (GRCm39) D227G possibly damaging Het
Clec4e A G 6: 123,260,591 (GRCm39) S156P probably damaging Het
Col10a1 G T 10: 34,270,645 (GRCm39) G206C probably damaging Het
Col4a2 T C 8: 11,363,509 (GRCm39) probably null Het
Copg2 A G 6: 30,789,777 (GRCm39) M517T probably benign Het
Cyp2f2 T A 7: 26,831,987 (GRCm39) L414Q probably damaging Het
Dact1 G A 12: 71,365,118 (GRCm39) G596D probably damaging Het
Dcaf13 T C 15: 38,982,294 (GRCm39) C87R probably damaging Het
Dchs1 T G 7: 105,406,834 (GRCm39) T2224P probably damaging Het
Dnah12 A G 14: 26,432,174 (GRCm39) M429V probably benign Het
Dppa2 G A 16: 48,137,711 (GRCm39) R231H probably damaging Het
Elavl4 T C 4: 110,108,489 (GRCm39) D78G probably damaging Het
Enthd1 T C 15: 80,358,482 (GRCm39) E346G probably damaging Het
Exoc3l A T 8: 106,020,250 (GRCm39) I225N probably damaging Het
Fasn C T 11: 120,699,325 (GRCm39) probably benign Het
Fbxl7 G A 15: 26,552,851 (GRCm39) R139C possibly damaging Het
Fbxw15 C A 9: 109,388,782 (GRCm39) probably null Het
Flnc A G 6: 29,455,184 (GRCm39) T1971A probably damaging Het
Fnip1 T G 11: 54,356,990 (GRCm39) V33G probably damaging Het
Foxn2 A G 17: 88,794,233 (GRCm39) E390G possibly damaging Het
Fry C T 5: 150,360,174 (GRCm39) S1940L possibly damaging Het
Fzd3 A T 14: 65,490,555 (GRCm39) D9E probably benign Het
Gabrd T C 4: 155,470,943 (GRCm39) Y255C probably damaging Het
Garem1 A T 18: 21,262,509 (GRCm39) F768L probably benign Het
Gas2 T A 7: 51,593,421 (GRCm39) L167Q probably damaging Het
Gm16391 A G 17: 76,591,418 (GRCm39) noncoding transcript Het
Gm1979 A T 5: 26,206,240 (GRCm39) N113K probably damaging Het
Gpr83 G T 9: 14,779,629 (GRCm39) C269F possibly damaging Het
Hdac4 T A 1: 91,912,421 (GRCm39) N352Y probably damaging Het
Hdac9 A G 12: 34,479,491 (GRCm39) probably benign Het
Hhipl2 G A 1: 183,217,253 (GRCm39) S673N probably benign Het
Iffo2 T A 4: 139,341,376 (GRCm39) S417T probably benign Het
Itgb5 G T 16: 33,685,930 (GRCm39) R90L possibly damaging Het
Jade1 T G 3: 41,567,648 (GRCm39) L572W probably damaging Het
Kcnh1 T A 1: 192,095,376 (GRCm39) M478K possibly damaging Het
Kcnma1 C A 14: 23,380,997 (GRCm39) D903Y probably damaging Het
Kcnq4 T A 4: 120,561,701 (GRCm39) H456L probably benign Het
Kif9 C A 9: 110,346,701 (GRCm39) T613K probably benign Het
Krt36 T G 11: 99,993,856 (GRCm39) probably benign Het
Kyat3 A T 3: 142,428,940 (GRCm39) D89V possibly damaging Het
Lnpep A T 17: 17,783,098 (GRCm39) F568I probably damaging Het
Lpl T C 8: 69,354,943 (GRCm39) F444L possibly damaging Het
Lrp1 A T 10: 127,389,576 (GRCm39) V3153E probably damaging Het
Lrrn1 A T 6: 107,544,529 (GRCm39) N109I probably benign Het
Ltn1 A G 16: 87,212,504 (GRCm39) Y686H probably damaging Het
Mcoln2 A C 3: 145,881,227 (GRCm39) D166A possibly damaging Het
Ms4a6b A T 19: 11,501,298 (GRCm39) I103F probably damaging Het
Mtmr10 T G 7: 63,987,214 (GRCm39) S585A probably benign Het
Mx1 T C 16: 97,256,837 (GRCm39) N114S possibly damaging Het
Mysm1 A T 4: 94,858,923 (GRCm39) N75K probably benign Het
Nkx1-1 A G 5: 33,591,277 (GRCm39) V15A unknown Het
Nlrp1a G A 11: 71,013,573 (GRCm39) T559I possibly damaging Het
Nlrp1a T A 11: 70,998,806 (GRCm39) probably benign Het
Oas1f A G 5: 120,993,652 (GRCm39) K288R probably benign Het
Or10q1 T A 19: 13,726,711 (GRCm39) D80E probably benign Het
Or55b3 A G 7: 102,126,720 (GRCm39) L119P probably damaging Het
Or9e1 T A 11: 58,732,257 (GRCm39) C106S probably benign Het
Pcdhb2 T A 18: 37,429,038 (GRCm39) V337D probably damaging Het
Pcdhb5 C T 18: 37,454,522 (GRCm39) R301* probably null Het
Phf12 T C 11: 77,915,780 (GRCm39) probably benign Het
Pik3c2a C T 7: 115,967,352 (GRCm39) D862N probably benign Het
Pkhd1l1 T A 15: 44,366,741 (GRCm39) L740I possibly damaging Het
Ppp1r9a A T 6: 5,111,060 (GRCm39) probably benign Het
Prg4 T C 1: 150,327,760 (GRCm39) D820G probably benign Het
Prmt9 C T 8: 78,282,303 (GRCm39) Q67* probably null Het
Prob1 T C 18: 35,786,628 (GRCm39) E542G possibly damaging Het
Pttg1 A G 11: 43,311,193 (GRCm39) V188A probably damaging Het
Rassf1 T A 9: 107,435,392 (GRCm39) L260H probably damaging Het
Rbm5 T A 9: 107,619,613 (GRCm39) Q766L probably damaging Het
Rccd1 T C 7: 79,969,966 (GRCm39) probably benign Het
Rnf182 G A 13: 43,822,010 (GRCm39) W187* probably null Het
S100a11 A T 3: 93,433,428 (GRCm39) I91F probably benign Het
Setd4 T A 16: 93,388,187 (GRCm39) K100* probably null Het
Simc1 T A 13: 54,672,452 (GRCm39) C267S probably benign Het
Slc16a1 G T 3: 104,558,255 (GRCm39) A91S probably benign Het
Slc36a1 A G 11: 55,111,279 (GRCm39) N133S probably benign Het
Ssxb16 T A X: 8,746,944 (GRCm39) Y133* probably null Het
Svil C T 18: 5,063,383 (GRCm39) P885S probably benign Het
Svop A T 5: 114,198,117 (GRCm39) probably null Het
Taar7d T C 10: 23,903,474 (GRCm39) Y119H probably damaging Het
Tasor2 T A 13: 3,631,759 (GRCm39) N914I probably damaging Het
Tgfb3 T C 12: 86,108,818 (GRCm39) T304A probably benign Het
Tmem94 C A 11: 115,684,039 (GRCm39) C786* probably null Het
Tnfrsf4 T A 4: 156,100,736 (GRCm39) probably null Het
Tns1 C A 1: 73,992,793 (GRCm39) M1I probably null Het
Trappc13 C T 13: 104,306,327 (GRCm39) probably null Het
Trim72 T C 7: 127,607,016 (GRCm39) F182L possibly damaging Het
Ttc6 T C 12: 57,707,033 (GRCm39) S647P probably benign Het
Tulp1 A G 17: 28,575,341 (GRCm39) L400P possibly damaging Het
Vegfc C T 8: 54,634,347 (GRCm39) T342M possibly damaging Het
Vit T A 17: 78,842,105 (GRCm39) V15E probably benign Het
Vps13d A T 4: 144,881,573 (GRCm39) M1334K probably damaging Het
Zfp280d T C 9: 72,206,062 (GRCm39) V23A probably damaging Het
Zfp608 A G 18: 55,031,648 (GRCm39) I764T probably benign Het
Zfp94 T C 7: 24,008,540 (GRCm39) Y33C probably damaging Het
Zfyve26 T A 12: 79,315,823 (GRCm39) I1218F 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
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
R5445:Rbms3 UTSW 9 117,080,853 (GRCm39) missense possibly damaging 0.74
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'- ATTCTATTGCTTTGGGCCCTAG -3'
(R):5'- TGGACTACCTCAGGCATTTGG -3'

Sequencing Primer
(F):5'- CTTTGGGCCCTAGATATTACAGAG -3'
(R):5'- GACTACCTCAGGCATTTGGAGCTATC -3'
Posted On 2014-06-23