Incidental Mutation 'IGL02028:Rbm19'
ID 184262
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbm19
Ensembl Gene ENSMUSG00000029594
Gene Name RNA binding motif protein 19
Synonyms 1200009A02Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02028
Quality Score
Status
Chromosome 5
Chromosomal Location 120254578-120337036 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120258301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 172 (D172G)
Ref Sequence ENSEMBL: ENSMUSP00000144339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031590] [ENSMUST00000202777]
AlphaFold Q8R3C6
Predicted Effect probably damaging
Transcript: ENSMUST00000031590
AA Change: D172G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031590
Gene: ENSMUSG00000029594
AA Change: D172G

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 noncoding transcript
Transcript: ENSMUST00000202388
Predicted Effect probably damaging
Transcript: ENSMUST00000202777
AA Change: D172G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144339
Gene: ENSMUSG00000029594
AA Change: D172G

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,473,442 (GRCm39) Y53C probably damaging Het
Acacb T A 5: 114,304,076 (GRCm39) D166E probably damaging Het
Akap8l T C 17: 32,557,495 (GRCm39) probably null Het
Arl6ip5 A G 6: 97,206,611 (GRCm39) Y97C probably damaging Het
Atad5 T A 11: 80,024,936 (GRCm39) S1772R probably benign Het
Ccdc106 A G 7: 5,062,645 (GRCm39) Q155R probably damaging Het
Ccdc33 T C 9: 57,983,861 (GRCm39) N446S probably benign Het
Cdh2 T C 18: 16,783,477 (GRCm39) D84G probably benign Het
Cntn6 A G 6: 104,836,387 (GRCm39) K918E probably damaging Het
Dock6 T C 9: 21,750,122 (GRCm39) D521G probably damaging Het
Dync2i1 C A 12: 116,219,681 (GRCm39) R87L probably benign Het
Etv6 C T 6: 134,225,696 (GRCm39) A309V probably benign Het
Ezh1 G T 11: 101,090,166 (GRCm39) H529Q probably damaging Het
Figla T C 6: 85,994,345 (GRCm39) L40P probably damaging Het
Gabra4 T A 5: 71,790,939 (GRCm39) Q301L probably damaging Het
Glt1d1 G A 5: 127,783,984 (GRCm39) V313M possibly damaging Het
Gm28778 T A 1: 53,357,120 (GRCm39) I94K possibly damaging Het
Gm4847 T C 1: 166,469,765 (GRCm39) K103E probably benign Het
Gne A G 4: 44,066,852 (GRCm39) S23P probably damaging Het
Hipk2 A G 6: 38,795,691 (GRCm39) C186R possibly damaging Het
Lrp1b C T 2: 41,401,464 (GRCm39) V283I probably damaging Het
Mcm10 A T 2: 5,013,511 (GRCm39) D40E possibly damaging Het
Morc2b T A 17: 33,356,387 (GRCm39) I462F possibly damaging Het
Myh1 T A 11: 67,101,441 (GRCm39) I711N probably damaging Het
Oit3 A G 10: 59,274,477 (GRCm39) F108L probably damaging Het
Or4f4b T C 2: 111,313,816 (GRCm39) F14L probably benign Het
Or8b49 T A 9: 38,505,715 (GRCm39) L66* probably null Het
Polr1g T C 7: 19,091,003 (GRCm39) K368R probably damaging Het
Ribc2 A G 15: 85,027,536 (GRCm39) D339G possibly damaging Het
Rras2 C A 7: 113,659,597 (GRCm39) V56L probably benign Het
Scn2a A G 2: 65,594,002 (GRCm39) E1617G probably damaging Het
Slc13a1 T A 6: 24,118,030 (GRCm39) M236L probably benign Het
Snrnp27 C T 6: 86,659,955 (GRCm39) R13H unknown Het
Srgap2 T C 1: 131,224,173 (GRCm39) K92E probably damaging Het
Suco T C 1: 161,684,428 (GRCm39) K231E possibly damaging Het
Tll2 C A 19: 41,087,088 (GRCm39) E588* probably null Het
Tmem215 A T 4: 40,473,940 (GRCm39) I6L possibly damaging Het
Tnc A C 4: 63,884,909 (GRCm39) probably benign Het
Tob1 G A 11: 94,105,052 (GRCm39) G196D probably benign Het
Ubtfl1 T A 9: 18,320,849 (GRCm39) Y126N possibly damaging Het
Uck1 G T 2: 32,148,149 (GRCm39) Q192K probably damaging Het
Vdac3-ps1 A G 13: 18,205,469 (GRCm39) noncoding transcript Het
Vmn1r88 C T 7: 12,911,719 (GRCm39) S25L probably benign Het
Vmn2r109 T G 17: 20,761,342 (GRCm39) I672L probably benign Het
Vmn2r23 T C 6: 123,718,819 (GRCm39) F724S probably damaging Het
Vmn2r54 A T 7: 12,366,088 (GRCm39) F282Y probably damaging Het
Vmn2r82 A T 10: 79,215,057 (GRCm39) I347F probably benign Het
Wasf2 G A 4: 132,923,112 (GRCm39) R474H probably damaging Het
Zmym5 T C 14: 57,041,617 (GRCm39) H162R possibly damaging Het
Other mutations in Rbm19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01443:Rbm19 APN 5 120,281,503 (GRCm39) splice site probably benign
IGL01750:Rbm19 APN 5 120,256,857 (GRCm39) missense probably benign 0.00
IGL01830:Rbm19 APN 5 120,262,760 (GRCm39) missense possibly damaging 0.95
IGL02262:Rbm19 APN 5 120,281,470 (GRCm39) missense probably damaging 0.99
IGL03030:Rbm19 APN 5 120,269,311 (GRCm39) missense probably damaging 1.00
IGL03094:Rbm19 APN 5 120,261,023 (GRCm39) missense probably damaging 1.00
N/A:Rbm19 UTSW 5 120,282,162 (GRCm39) missense probably damaging 0.99
PIT4812001:Rbm19 UTSW 5 120,266,315 (GRCm39) missense possibly damaging 0.91
R0190:Rbm19 UTSW 5 120,282,111 (GRCm39) missense probably benign 0.30
R0350:Rbm19 UTSW 5 120,266,372 (GRCm39) missense possibly damaging 0.75
R0594:Rbm19 UTSW 5 120,266,381 (GRCm39) critical splice donor site probably null
R0924:Rbm19 UTSW 5 120,264,269 (GRCm39) missense probably benign 0.11
R0930:Rbm19 UTSW 5 120,264,269 (GRCm39) missense probably benign 0.11
R0963:Rbm19 UTSW 5 120,268,799 (GRCm39) missense possibly damaging 0.83
R1144:Rbm19 UTSW 5 120,261,081 (GRCm39) missense possibly damaging 0.87
R1438:Rbm19 UTSW 5 120,260,961 (GRCm39) missense probably benign 0.01
R1441:Rbm19 UTSW 5 120,269,241 (GRCm39) missense probably damaging 1.00
R1458:Rbm19 UTSW 5 120,282,094 (GRCm39) missense probably benign 0.00
R1518:Rbm19 UTSW 5 120,278,345 (GRCm39) small deletion probably benign
R1992:Rbm19 UTSW 5 120,271,948 (GRCm39) critical splice donor site probably null
R2029:Rbm19 UTSW 5 120,258,307 (GRCm39) missense possibly damaging 0.85
R3055:Rbm19 UTSW 5 120,271,075 (GRCm39) missense probably damaging 1.00
R4356:Rbm19 UTSW 5 120,278,427 (GRCm39) missense possibly damaging 0.72
R4808:Rbm19 UTSW 5 120,256,839 (GRCm39) missense probably damaging 0.99
R4817:Rbm19 UTSW 5 120,271,799 (GRCm39) intron probably benign
R4857:Rbm19 UTSW 5 120,270,898 (GRCm39) splice site probably benign
R4963:Rbm19 UTSW 5 120,279,631 (GRCm39) missense probably damaging 1.00
R5812:Rbm19 UTSW 5 120,279,642 (GRCm39) missense probably damaging 1.00
R5857:Rbm19 UTSW 5 120,271,007 (GRCm39) missense probably damaging 1.00
R5878:Rbm19 UTSW 5 120,270,932 (GRCm39) missense probably damaging 1.00
R5976:Rbm19 UTSW 5 120,278,372 (GRCm39) missense probably benign 0.01
R6345:Rbm19 UTSW 5 120,265,105 (GRCm39) missense possibly damaging 0.87
R6489:Rbm19 UTSW 5 120,258,195 (GRCm39) missense probably benign 0.06
R6495:Rbm19 UTSW 5 120,257,745 (GRCm39) missense probably damaging 1.00
R7081:Rbm19 UTSW 5 120,261,216 (GRCm39) critical splice donor site probably null
R7181:Rbm19 UTSW 5 120,254,532 (GRCm39) unclassified probably benign
R7307:Rbm19 UTSW 5 120,324,283 (GRCm39) missense possibly damaging 0.55
R8058:Rbm19 UTSW 5 120,278,440 (GRCm39) critical splice donor site probably null
R8432:Rbm19 UTSW 5 120,313,991 (GRCm39) missense probably damaging 1.00
R8696:Rbm19 UTSW 5 120,265,132 (GRCm39) missense probably damaging 0.98
R8910:Rbm19 UTSW 5 120,271,844 (GRCm39) missense probably damaging 1.00
R9261:Rbm19 UTSW 5 120,256,810 (GRCm39) missense probably damaging 1.00
R9424:Rbm19 UTSW 5 120,278,345 (GRCm39) small deletion probably benign
R9507:Rbm19 UTSW 5 120,265,232 (GRCm39) critical splice donor site probably null
R9695:Rbm19 UTSW 5 120,335,986 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07