Incidental Mutation 'IGL01830:Rbm19'
ID154774
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbm19
Ensembl Gene ENSMUSG00000029594
Gene NameRNA binding motif protein 19
Synonyms1200009A02Rik
Accession Numbers

Genbank: NM_028762 ; MGI: 1921361

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01830
Quality Score
Status
Chromosome5
Chromosomal Location120116465-120198981 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 120124695 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Threonine at position 307 (K307T)
Ref Sequence ENSEMBL: ENSMUSP00000031590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031590] [ENSMUST00000202777]
PDB Structure
Solution structure of the N-terminal RNA binding domain from hypothetical protein BAB23448 [SOLUTION NMR]
Solution structure of the second RNA binding domain from hypothetical protein BAB23448 [SOLUTION NMR]
Solution structure of the penultimate RNA recognition motif of hypothetical RNA-binding protein RBM19 [SOLUTION NMR]
Solution structure of the C-terminal RNA recognition motif of hypothetical RNA-binding protein RBM19 [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000031590
AA Change: K307T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031590
Gene: ENSMUSG00000029594
AA Change: K307T

DomainStartEndE-ValueType
RRM 3 75 7.64e-20 SMART
Pfam:RRM_u2 81 277 1.7e-10 PFAM
RRM 294 364 9.14e-9 SMART
RRM 401 474 6.4e-22 SMART
RRM 585 652 1.6e-4 SMART
coiled coil region 694 717 N/A INTRINSIC
RRM 723 799 4.59e-23 SMART
RRM 825 900 9.4e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201527
Predicted Effect possibly damaging
Transcript: ENSMUST00000202777
AA Change: K307T

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144339
Gene: ENSMUSG00000029594
AA Change: K307T

DomainStartEndE-ValueType
RRM 3 75 3.3e-22 SMART
Pfam:RRM_u2 81 269 1.2e-6 PFAM
RRM 294 364 3.9e-11 SMART
RRM 401 474 2.7e-24 SMART
RRM 585 652 7e-7 SMART
coiled coil region 694 717 N/A INTRINSIC
RRM 723 799 2e-25 SMART
Pfam:RRM_6 826 865 1.1e-3 PFAM
Pfam:RRM_1 826 870 8.5e-6 PFAM
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 nucleolar protein that contains six RNA-binding motifs. The encoded protein may be involved in regulating ribosome biogenesis. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Apr 2009]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit failure to undergo compaction, growth arrest at the morula stage, and apoptosis such that no embryos are observed at E6.5. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Gene trapped(10)

Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg C A 16: 22,899,029 P252Q probably damaging Het
Anks4b T A 7: 120,173,996 N26K probably damaging Het
Arrdc5 C T 17: 56,294,652 V158I probably damaging Het
Catsper2 T C 2: 121,407,362 D179G probably damaging Het
Cd44 T C 2: 102,842,258 probably benign Het
Ceacam3 T A 7: 17,155,000 D231E possibly damaging Het
Cep57l1 C T 10: 41,728,653 C160Y probably benign Het
Chek2 T A 5: 110,873,508 L528Q probably benign Het
Ciita T C 16: 10,521,051 L973P probably damaging Het
Dock2 A T 11: 34,691,917 L637* probably null Het
Fsip2 A C 2: 82,984,929 I3669L probably benign Het
Gapvd1 A G 2: 34,688,956 V1218A probably benign Het
Gip T C 11: 96,028,724 L91S possibly damaging Het
Gp2 T C 7: 119,451,542 D322G probably damaging Het
Ift172 A G 5: 31,285,292 V177A probably damaging Het
Kng2 T C 16: 22,988,051 D466G probably damaging Het
Lpar5 G A 6: 125,081,822 A169T probably benign Het
Med13 C T 11: 86,288,928 probably benign Het
Meiob T A 17: 24,835,131 C391S probably benign Het
Mgat5 A G 1: 127,412,132 T417A probably damaging Het
Myo1b A T 1: 51,797,465 L279* probably null Het
Myo1g T A 11: 6,514,522 K513* probably null Het
Nxpe2 A T 9: 48,326,494 S154T probably damaging Het
Ogn C T 13: 49,609,247 Q22* probably null Het
Olfr1259 A G 2: 89,943,431 L228S probably benign Het
Pacs2 A T 12: 113,056,954 K316* probably null Het
Pelo T A 13: 115,088,595 I365F probably damaging Het
Phf3 G A 1: 30,814,067 Q1021* probably null Het
Pik3r4 A G 9: 105,644,955 D240G probably damaging Het
Pknox1 T C 17: 31,595,310 M203T probably benign Het
Pld1 T C 3: 28,048,004 probably benign Het
Rabgef1 G T 5: 130,212,066 C342F possibly damaging Het
Sdcbp2 T A 2: 151,589,574 I289N probably damaging Het
Slc5a12 G A 2: 110,597,806 G69R probably damaging Het
Spag1 C A 15: 36,221,559 S599R probably benign Het
Ubr4 A T 4: 139,472,500 D4565V probably damaging Het
Usp34 G A 11: 23,436,020 R2149H probably damaging Het
Vmn1r225 T C 17: 20,502,455 S53P probably damaging Het
Xrcc1 T A 7: 24,573,342 probably benign Het
Other mutations in Rbm19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01443:Rbm19 APN 5 120143438 splice site probably benign
IGL01750:Rbm19 APN 5 120118792 missense probably benign 0.00
IGL02028:Rbm19 APN 5 120120236 missense probably damaging 1.00
IGL02262:Rbm19 APN 5 120143405 missense probably damaging 0.99
IGL03030:Rbm19 APN 5 120131246 missense probably damaging 1.00
IGL03094:Rbm19 APN 5 120122958 missense probably damaging 1.00
N/A:Rbm19 UTSW 5 120144097 missense probably damaging 0.99
PIT4812001:Rbm19 UTSW 5 120128250 missense possibly damaging 0.91
R0190:Rbm19 UTSW 5 120144046 missense probably benign 0.30
R0350:Rbm19 UTSW 5 120128307 missense possibly damaging 0.75
R0594:Rbm19 UTSW 5 120128316 critical splice donor site probably null
R0924:Rbm19 UTSW 5 120126204 missense probably benign 0.11
R0930:Rbm19 UTSW 5 120126204 missense probably benign 0.11
R0963:Rbm19 UTSW 5 120130734 missense possibly damaging 0.83
R1144:Rbm19 UTSW 5 120123016 missense possibly damaging 0.87
R1438:Rbm19 UTSW 5 120122896 missense probably benign 0.01
R1441:Rbm19 UTSW 5 120131176 missense probably damaging 1.00
R1458:Rbm19 UTSW 5 120144029 missense probably benign 0.00
R1518:Rbm19 UTSW 5 120140280 small deletion probably benign
R1992:Rbm19 UTSW 5 120133883 critical splice donor site probably null
R2029:Rbm19 UTSW 5 120120242 missense possibly damaging 0.85
R3055:Rbm19 UTSW 5 120133010 missense probably damaging 1.00
R4356:Rbm19 UTSW 5 120140362 missense possibly damaging 0.72
R4808:Rbm19 UTSW 5 120118774 missense probably damaging 0.99
R4817:Rbm19 UTSW 5 120133734 intron probably benign
R4857:Rbm19 UTSW 5 120132833 splice site probably benign
R4963:Rbm19 UTSW 5 120141566 missense probably damaging 1.00
R5812:Rbm19 UTSW 5 120141577 missense probably damaging 1.00
R5857:Rbm19 UTSW 5 120132942 missense probably damaging 1.00
R5878:Rbm19 UTSW 5 120132867 missense probably damaging 1.00
R5976:Rbm19 UTSW 5 120140307 missense probably benign 0.01
R6345:Rbm19 UTSW 5 120127040 missense possibly damaging 0.87
R6489:Rbm19 UTSW 5 120120130 missense probably benign 0.06
R6495:Rbm19 UTSW 5 120119680 missense probably damaging 1.00
R7081:Rbm19 UTSW 5 120123151 critical splice donor site probably null
R7181:Rbm19 UTSW 5 120116467 unclassified probably benign
R7307:Rbm19 UTSW 5 120186218 missense possibly damaging 0.55
Posted On2014-02-04