Incidental Mutation 'R6515:Rbm34'
ID 520609
Institutional Source Beutler Lab
Gene Symbol Rbm34
Ensembl Gene ENSMUSG00000033931
Gene Name RNA binding motif protein 34
Synonyms 4930547K05Rik, D8Ertd233e
MMRRC Submission 044642-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6515 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 127673922-127697799 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 127688682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 217 (S217T)
Ref Sequence ENSEMBL: ENSMUSP00000048450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045994] [ENSMUST00000212618]
AlphaFold Q8C5L7
Predicted Effect possibly damaging
Transcript: ENSMUST00000045994
AA Change: S217T

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000048450
Gene: ENSMUSG00000033931
AA Change: S217T

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
low complexity region 41 53 N/A INTRINSIC
low complexity region 83 91 N/A INTRINSIC
low complexity region 124 136 N/A INTRINSIC
low complexity region 140 152 N/A INTRINSIC
RRM 190 280 5.33e-10 SMART
RRM 292 364 5.2e-22 SMART
internal_repeat_2 394 404 6.88e-5 PROSPERO
internal_repeat_2 401 411 6.88e-5 PROSPERO
low complexity region 423 442 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212583
Predicted Effect probably benign
Transcript: ENSMUST00000212618
Meta Mutation Damage Score 0.2910 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 100% (41/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RNA-binding motif family of RNA recognition motif proteins. The encoded protein contains an RNA-binding domain made up of two RNA recognition motif subdomains referred to as RNA recognition motif-1 and RNA recognition motif-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1s3 T C 1: 79,592,044 (GRCm39) D102G probably damaging Het
Apcdd1 T A 18: 63,084,910 (GRCm39) M369K probably damaging Het
Atp4a A G 7: 30,411,903 (GRCm39) K46R possibly damaging Het
Bcl9l A G 9: 44,419,171 (GRCm39) probably null Het
Cabyr A G 18: 12,887,340 (GRCm39) S324G possibly damaging Het
Casp8ap2 A G 4: 32,646,423 (GRCm39) D1832G possibly damaging Het
Cdk4 C T 10: 126,902,052 (GRCm39) P256S probably null Het
Cnot6l C A 5: 96,309,537 (GRCm39) probably benign Het
Cox17 C A 16: 38,167,557 (GRCm39) A32E probably damaging Het
Cyp27b1 G T 10: 126,884,119 (GRCm39) probably benign Het
Enpp2 T A 15: 54,723,489 (GRCm39) N628I possibly damaging Het
Ggcx T C 6: 72,402,815 (GRCm39) C258R probably benign Het
Hbb-bh1 T C 7: 103,491,974 (GRCm39) D80G probably damaging Het
Hoxb5 A T 11: 96,195,908 (GRCm39) D252V probably damaging Het
Hspa4l A G 3: 40,736,014 (GRCm39) D545G possibly damaging Het
Hspa5 T A 2: 34,662,416 (GRCm39) V28E probably benign Het
Ifit1bl1 T C 19: 34,571,899 (GRCm39) Y186C probably damaging Het
Itpr3 C T 17: 27,310,344 (GRCm39) A403V probably benign Het
Kif19b T C 5: 140,480,779 (GRCm39) S970P possibly damaging Het
Klra17 A T 6: 129,808,462 (GRCm39) I257N probably damaging Het
Megf6 C T 4: 154,343,376 (GRCm39) H662Y possibly damaging Het
Mfsd6 T C 1: 52,700,120 (GRCm39) K676R probably damaging Het
Nutm1 A C 2: 112,086,665 (GRCm39) L22R probably benign Het
Oas1f T C 5: 120,986,497 (GRCm39) V150A probably damaging Het
Or10ak13 T C 4: 118,639,467 (GRCm39) Y105C probably benign Het
Or4f62 T C 2: 111,986,710 (GRCm39) L138P probably benign Het
Pik3ap1 A G 19: 41,364,585 (GRCm39) Y45H probably benign Het
Pnlip T C 19: 58,661,547 (GRCm39) S79P probably damaging Het
Ppfia3 T C 7: 44,989,657 (GRCm39) D1185G possibly damaging Het
Pphln1-ps1 G A 16: 13,494,820 (GRCm39) probably benign Het
Rbm44 T C 1: 91,092,860 (GRCm39) I820T probably damaging Het
Rnf151 A T 17: 24,935,391 (GRCm39) L180Q probably benign Het
Sec24d G A 3: 123,136,719 (GRCm39) R484Q possibly damaging Het
Spop C A 11: 95,376,761 (GRCm39) D271E possibly damaging Het
Svep1 C T 4: 58,088,280 (GRCm39) G1723D probably damaging Het
Tenm3 G C 8: 48,870,257 (GRCm39) Q179E probably benign Het
Thap12 A G 7: 98,356,302 (GRCm39) E63G probably damaging Het
Thsd7a T A 6: 12,501,085 (GRCm39) T441S possibly damaging Het
Tle6 G A 10: 81,427,810 (GRCm39) H482Y probably damaging Het
Tmem184a A G 5: 139,794,193 (GRCm39) F177L probably benign Het
Uggt2 A T 14: 119,315,131 (GRCm39) S313T possibly damaging Het
Unc13a A G 8: 72,100,584 (GRCm39) I1068T probably benign Het
Xirp1 T C 9: 119,845,983 (GRCm39) R967G probably benign Het
Other mutations in Rbm34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Rbm34 APN 8 127,696,736 (GRCm39) missense probably benign 0.10
IGL02505:Rbm34 APN 8 127,676,071 (GRCm39) missense probably benign 0.08
IGL03166:Rbm34 APN 8 127,697,606 (GRCm39) missense probably damaging 1.00
R0081:Rbm34 UTSW 8 127,676,234 (GRCm39) missense probably damaging 0.99
R1186:Rbm34 UTSW 8 127,692,197 (GRCm39) nonsense probably null
R1257:Rbm34 UTSW 8 127,697,643 (GRCm39) missense possibly damaging 0.45
R1867:Rbm34 UTSW 8 127,697,631 (GRCm39) missense probably benign 0.17
R1868:Rbm34 UTSW 8 127,697,631 (GRCm39) missense probably benign 0.17
R4008:Rbm34 UTSW 8 127,676,037 (GRCm39) missense probably benign 0.00
R4395:Rbm34 UTSW 8 127,676,131 (GRCm39) missense probably benign 0.03
R4823:Rbm34 UTSW 8 127,697,655 (GRCm39) missense probably benign 0.01
R4903:Rbm34 UTSW 8 127,678,087 (GRCm39) missense possibly damaging 0.71
R4964:Rbm34 UTSW 8 127,678,087 (GRCm39) missense possibly damaging 0.71
R4966:Rbm34 UTSW 8 127,678,087 (GRCm39) missense possibly damaging 0.71
R5605:Rbm34 UTSW 8 127,676,169 (GRCm39) missense probably benign 0.05
R5734:Rbm34 UTSW 8 127,696,880 (GRCm39) critical splice acceptor site probably null
R8263:Rbm34 UTSW 8 127,692,139 (GRCm39) missense probably benign 0.03
R8544:Rbm34 UTSW 8 127,696,821 (GRCm39) missense probably benign 0.00
R8915:Rbm34 UTSW 8 127,679,908 (GRCm39) splice site probably benign
R8957:Rbm34 UTSW 8 127,692,208 (GRCm39) missense probably benign 0.00
R9005:Rbm34 UTSW 8 127,686,332 (GRCm39) missense possibly damaging 0.65
R9131:Rbm34 UTSW 8 127,679,928 (GRCm39) missense probably damaging 0.97
R9635:Rbm34 UTSW 8 127,696,872 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGGTGAGAAACAGTCCCCTG -3'
(R):5'- CACACTTGATTCTGGAATGGCC -3'

Sequencing Primer
(F):5'- CTGCCTACTCTGACAGCAG -3'
(R):5'- CCTGGAACTCACTTTGTAGAACAGG -3'
Posted On 2018-06-06