Incidental Mutation 'IGL03166:Rbm34'
ID411650
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 #IGL03166
Quality Score
Status
Chromosome8
Chromosomal Location126947172-126971071 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 126970856 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 35 (Q35R)
Ref Sequence ENSEMBL: ENSMUSP00000148473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045994] [ENSMUST00000212618]
Predicted Effect probably damaging
Transcript: ENSMUST00000045994
AA Change: Q35R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048450
Gene: ENSMUSG00000033931
AA Change: Q35R

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 damaging
Transcript: ENSMUST00000212618
AA Change: Q35R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110079O15Rik A C 1: 87,475,211 probably benign Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Ankfn1 G T 11: 89,538,438 A40D probably benign Het
Arhgap20 T A 9: 51,849,777 I940K possibly damaging Het
Arhgap24 T C 5: 102,875,686 probably benign Het
Bdp1 T C 13: 100,035,800 T2103A probably benign Het
Cep350 A G 1: 155,863,600 S2166P possibly damaging Het
Dlg2 T C 7: 91,900,730 probably benign Het
Fam160b2 A T 14: 70,590,176 C160S probably damaging Het
Fyco1 A T 9: 123,828,387 L908H probably benign Het
Gprc5b C A 7: 118,983,999 A216S probably benign Het
Lamc1 A G 1: 153,332,301 V80A probably benign Het
Lilra6 T C 7: 3,912,627 I370V possibly damaging Het
Lim2 T A 7: 43,430,623 C11* probably null Het
Lrp1b T A 2: 41,111,038 H2058L probably damaging Het
Lrp3 G T 7: 35,202,480 L659I probably benign Het
Lrrc8a T G 2: 30,255,365 S64A probably benign Het
Lsr C T 7: 30,962,097 probably null Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Man2c1 T A 9: 57,139,098 V479E probably damaging Het
Mtf2 T A 5: 108,106,720 D462E probably benign Het
Mx2 T C 16: 97,546,790 I205T probably damaging Het
Nos1 T A 5: 117,914,452 probably benign Het
Olfr78 T C 7: 102,742,047 N319D probably benign Het
Optc C T 1: 133,903,792 probably benign Het
Orm1 C A 4: 63,344,594 probably benign Het
Pdzd8 T C 19: 59,300,508 E820G probably damaging Het
Pkp1 A T 1: 135,878,124 M612K probably damaging Het
Pno1 T A 11: 17,204,513 probably null Het
Ryr3 A T 2: 112,641,112 Y4564* probably null Het
Slc34a3 T C 2: 25,232,174 I140V probably damaging Het
Slc43a1 T C 2: 84,857,356 I419T possibly damaging Het
Sltm C A 9: 70,542,969 A17E possibly damaging Het
Smpdl3b T C 4: 132,741,531 D125G probably benign Het
Supt3 G T 17: 44,923,219 A48S probably damaging Het
Tlr3 A G 8: 45,402,928 F72L probably benign Het
Trim36 T C 18: 46,212,321 E15G probably benign Het
Tubb4b-ps1 A T 5: 7,179,965 probably benign Het
Vmn2r68 T C 7: 85,222,123 T651A probably benign Het
Wdr76 G T 2: 121,534,306 V462F possibly damaging Het
Wnk2 C A 13: 49,071,044 G1112* probably null Het
Zfp868 A C 8: 69,612,314 C123W probably damaging Het
Zyg11b T A 4: 108,265,889 M294L probably benign Het
Other mutations in Rbm34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Rbm34 APN 8 126969986 missense probably benign 0.10
IGL02505:Rbm34 APN 8 126949321 missense probably benign 0.08
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 On2016-08-02