Incidental Mutation 'IGL02505:Rbm34'
ID296293
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbm34
Ensembl Gene ENSMUSG00000033931
Gene NameRNA binding motif protein 34
Synonyms4930547K05Rik, D8Ertd233e
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02505
Quality Score
Status
Chromosome8
Chromosomal Location126947172-126971071 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 126949321 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 395 (I395V)
Ref Sequence ENSEMBL: ENSMUSP00000148473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045994] [ENSMUST00000179857] [ENSMUST00000212618] [ENSMUST00000212771]
Predicted Effect probably benign
Transcript: ENSMUST00000045994
AA Change: I415V

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000048450
Gene: ENSMUSG00000033931
AA Change: I415V

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: ENSMUST00000083703
Predicted Effect probably benign
Transcript: ENSMUST00000179857
SMART Domains Protein: ENSMUSP00000136493
Gene: ENSMUSG00000093904

DomainStartEndE-ValueType
Pfam:MAS20 10 124 3.8e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212618
AA Change: I395V

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000212771
Coding Region Coverage
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 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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab C A 9: 63,616,814 L68M probably damaging Het
Abca13 T G 11: 9,581,498 L4575W probably damaging Het
Abcb11 A T 2: 69,245,761 V1201D probably damaging Het
Aldoa G T 7: 126,795,994 A252E probably damaging Het
Ap1b1 C T 11: 5,031,700 A536V probably benign Het
Arhgef3 A G 14: 27,394,000 H233R possibly damaging Het
Arhgef40 A T 14: 52,000,863 E1266D probably damaging Het
Atp1a4 C T 1: 172,235,075 V622M probably damaging Het
Aup1 A G 6: 83,055,277 T142A probably benign Het
Bcl6 A T 16: 23,977,569 I36N probably damaging Het
Best1 A G 19: 9,989,150 S358P probably damaging Het
Cadps T G 14: 12,449,759 Q1150P probably damaging Het
Capn5 T A 7: 98,131,196 E322D possibly damaging Het
Ccdc94 G T 17: 55,962,051 G53V probably damaging Het
Cd300ld2 A T 11: 115,013,687 M118K probably benign Het
Cdh9 T C 15: 16,855,989 L705P probably damaging Het
Cep170b T G 12: 112,743,070 N436K probably damaging Het
Chil6 T A 3: 106,405,962 I24F probably benign Het
Chmp2a T A 7: 13,033,855 K48* probably null Het
Col19a1 C T 1: 24,300,584 probably benign Het
Cops7b C A 1: 86,592,321 Q65K probably benign Het
Cyp2e1 T A 7: 140,769,156 L133H probably damaging Het
Dirc2 G T 16: 35,735,558 D177E probably benign Het
Dkc1 T C X: 75,108,733 probably benign Het
Erlec1 A G 11: 30,950,767 Y134H probably damaging Het
F8 C A X: 75,379,598 probably benign Het
Fus G A 7: 127,981,507 R252Q possibly damaging Het
Fzd3 A T 14: 65,253,106 D9E probably benign Het
Gm15821 T C 17: 34,214,285 probably benign Het
Gm5117 C A 8: 31,738,316 noncoding transcript Het
H2afy A G 13: 56,074,330 V336A probably damaging Het
H2-Q6 A G 17: 35,425,176 I45V probably benign Het
Hectd1 A G 12: 51,800,713 probably null Het
Ifi204 T C 1: 173,755,654 K333E probably benign Het
Ildr1 G A 16: 36,716,164 G185D probably damaging Het
Itgb2 G A 10: 77,547,218 D141N probably damaging Het
Kdm1b G T 13: 47,060,855 D226Y probably damaging Het
Krt77 A G 15: 101,860,946 L460P probably damaging Het
Lamp3 A G 16: 19,655,457 I389T possibly damaging Het
Mars C A 10: 127,304,244 E414* probably null Het
Mpg T C 11: 32,230,042 V190A probably damaging Het
Myh15 A G 16: 49,117,263 I742M possibly damaging Het
Nell2 A T 15: 95,296,263 probably benign Het
Nmur1 T C 1: 86,386,335 D370G probably benign Het
Npsr1 A G 9: 24,098,282 E28G probably benign Het
Olfr569 T C 7: 102,887,607 E182G probably damaging Het
Olfr679 A T 7: 105,086,333 I206L probably benign Het
Olfr8 G T 10: 78,955,933 V243F probably benign Het
Olfr876 G A 9: 37,804,331 C140Y probably benign Het
Pdzrn3 T C 6: 101,151,938 N589S possibly damaging Het
Pkd1l3 T C 8: 109,633,216 L901P probably damaging Het
Plekhg1 G T 10: 3,957,139 K685N probably damaging Het
Prim1 T A 10: 128,029,783 *419R probably null Het
Ptk2b G T 14: 66,154,243 N905K probably damaging Het
Rfx1 A G 8: 84,095,809 E912G possibly damaging Het
Rngtt T C 4: 33,337,936 V253A possibly damaging Het
Slc2a9 A G 5: 38,436,659 Y169H possibly damaging Het
Susd4 C A 1: 182,892,080 T420K probably benign Het
Tdrd3 G A 14: 87,511,682 G676D probably damaging Het
Tec T C 5: 72,789,244 K47E probably damaging Het
Tenm2 C A 11: 36,051,916 G1308* probably null Het
Tmprss15 A T 16: 78,987,741 D675E probably benign Het
Vmn1r84 A G 7: 12,362,419 C104R probably damaging Het
Vmn2r49 T A 7: 9,976,451 M785L probably benign Het
Vmn2r85 G T 10: 130,425,580 T296K probably damaging Het
Wdr3 C T 3: 100,151,974 S343N probably benign Het
Zfp143 A T 7: 110,091,786 M515L possibly damaging Het
Zfp735 A G 11: 73,689,800 I42V probably benign Het
Zswim5 A T 4: 116,962,552 M385L probably benign Het
Other mutations in Rbm34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Rbm34 APN 8 126969986 missense probably benign 0.10
IGL03166:Rbm34 APN 8 126970856 missense probably damaging 1.00
R0081:Rbm34 UTSW 8 126949484 missense probably damaging 0.99
R1186:Rbm34 UTSW 8 126965447 nonsense probably null
R1257:Rbm34 UTSW 8 126970893 missense possibly damaging 0.45
R1867:Rbm34 UTSW 8 126970881 missense probably benign 0.17
R1868:Rbm34 UTSW 8 126970881 missense probably benign 0.17
R4008:Rbm34 UTSW 8 126949287 missense probably benign 0.00
R4395:Rbm34 UTSW 8 126949381 missense probably benign 0.03
R4823:Rbm34 UTSW 8 126970905 missense probably benign 0.01
R4903:Rbm34 UTSW 8 126951337 missense possibly damaging 0.71
R4964:Rbm34 UTSW 8 126951337 missense possibly damaging 0.71
R4966:Rbm34 UTSW 8 126951337 missense possibly damaging 0.71
R5605:Rbm34 UTSW 8 126949419 missense probably benign 0.05
R5734:Rbm34 UTSW 8 126970130 critical splice acceptor site probably null
R6515:Rbm34 UTSW 8 126961932 missense possibly damaging 0.48
Posted On2015-04-16