Incidental Mutation 'R1438:Rbm19'
ID 160757
Institutional Source Beutler Lab
Gene Symbol Rbm19
Ensembl Gene ENSMUSG00000029594
Gene Name RNA binding motif protein 19
Synonyms 1200009A02Rik
MMRRC Submission 039493-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1438 (G1)
Quality Score 142
Status Validated
Chromosome 5
Chromosomal Location 120254578-120337036 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120260961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 195 (E195G)
Ref Sequence ENSEMBL: ENSMUSP00000144339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031590] [ENSMUST00000202777]
AlphaFold Q8R3C6
Predicted Effect probably benign
Transcript: ENSMUST00000031590
AA Change: E195G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000031590
Gene: ENSMUSG00000029594
AA Change: E195G

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 benign
Transcript: ENSMUST00000202777
AA Change: E195G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000144339
Gene: ENSMUSG00000029594
AA Change: E195G

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
Meta Mutation Damage Score 0.0695 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.3%
Validation Efficiency 99% (80/81)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A T 5: 137,552,871 (GRCm39) I67F probably damaging Het
Adam24 A T 8: 41,134,431 (GRCm39) N633I probably benign Het
Adgrg6 T C 10: 14,344,585 (GRCm39) S123G possibly damaging Het
Afdn T A 17: 14,075,652 (GRCm39) F940L probably damaging Het
Ahrr A T 13: 74,372,987 (GRCm39) Y26* probably null Het
Akap1 C A 11: 88,735,577 (GRCm39) G362* probably null Het
Aox3 A T 1: 58,192,337 (GRCm39) T536S probably benign Het
Boc A T 16: 44,309,109 (GRCm39) probably null Het
Cchcr1 T C 17: 35,841,457 (GRCm39) probably null Het
Cct2 A T 10: 116,890,897 (GRCm39) probably benign Het
Cd84 A T 1: 171,679,685 (GRCm39) Y121F probably damaging Het
Cecr2 T A 6: 120,738,433 (GRCm39) C275* probably null Het
Chchd3 C A 6: 32,985,503 (GRCm39) probably benign Het
Ckmt2 A T 13: 92,007,971 (GRCm39) probably benign Het
Col5a3 T C 9: 20,691,253 (GRCm39) K1131E probably damaging Het
Dek A T 13: 47,241,647 (GRCm39) S306T probably benign Het
Dhx32 T C 7: 133,339,069 (GRCm39) E322G possibly damaging Het
Dlg5 T A 14: 24,204,673 (GRCm39) D941V possibly damaging Het
Dnah10 A G 5: 124,876,009 (GRCm39) N2559S probably benign Het
Dnajc3 A G 14: 119,205,518 (GRCm39) T171A probably benign Het
Eftud2 G T 11: 102,750,868 (GRCm39) F308L probably damaging Het
Elp6 T C 9: 110,143,123 (GRCm39) F95S probably damaging Het
Emsy C T 7: 98,270,613 (GRCm39) V450I possibly damaging Het
Exoc3 A T 13: 74,338,298 (GRCm39) M362K probably damaging Het
Fat2 A T 11: 55,178,637 (GRCm39) D1474E probably damaging Het
Fcgbp T A 7: 27,803,158 (GRCm39) C1587* probably null Het
Fosl2 T A 5: 32,304,329 (GRCm39) L88Q probably damaging Het
Fsd2 T C 7: 81,198,621 (GRCm39) D381G probably benign Het
Golim4 A C 3: 75,863,440 (GRCm39) S56A probably damaging Het
Gpr39 T C 1: 125,800,093 (GRCm39) probably benign Het
Gucy1b2 T C 14: 62,651,770 (GRCm39) I409V probably damaging Het
Hivep1 A G 13: 42,311,596 (GRCm39) T1279A probably benign Het
Ifit1bl2 T A 19: 34,596,569 (GRCm39) Q349L possibly damaging Het
Kcnc1 A T 7: 46,077,691 (GRCm39) I498F possibly damaging Het
Kctd21 T A 7: 96,996,704 (GRCm39) I59N probably damaging Het
Lama5 T A 2: 179,824,593 (GRCm39) T2577S probably benign Het
Mief2 G T 11: 60,621,140 (GRCm39) R9M possibly damaging Het
Mmp3 T C 9: 7,453,705 (GRCm39) V442A probably benign Het
Nkapd1 C A 9: 50,518,972 (GRCm39) K213N possibly damaging Het
Nrxn3 C T 12: 90,298,909 (GRCm39) R477W probably damaging Het
Or12e7 A G 2: 87,288,336 (GRCm39) T276A probably benign Het
Or7a41 T A 10: 78,871,122 (GRCm39) V164E possibly damaging Het
Parp1 A G 1: 180,418,807 (GRCm39) T656A probably benign Het
Pcdhb19 A G 18: 37,631,015 (GRCm39) D270G probably damaging Het
Phlpp1 A G 1: 106,101,142 (GRCm39) D470G possibly damaging Het
Prdm1 T C 10: 44,318,124 (GRCm39) E248G probably benign Het
Prtg C T 9: 72,818,032 (GRCm39) probably benign Het
Ptpn1 T C 2: 167,818,529 (GRCm39) Y424H probably damaging Het
Ptprr T C 10: 116,092,109 (GRCm39) V369A probably damaging Het
Rai1 T G 11: 60,076,221 (GRCm39) V95G probably benign Het
Rasal3 T A 17: 32,612,509 (GRCm39) probably null Het
Rhbdd3 T A 11: 5,053,332 (GRCm39) L44Q probably damaging Het
Ripply2 T C 9: 86,901,713 (GRCm39) W80R probably damaging Het
Rnf183 A G 4: 62,346,760 (GRCm39) C13R probably damaging Het
Rorb A G 19: 18,932,417 (GRCm39) L367P probably damaging Het
Rpl7a-ps5 C T 17: 58,146,135 (GRCm39) probably benign Het
Rreb1 A G 13: 38,114,581 (GRCm39) N647D probably benign Het
Rtn1 A T 12: 72,351,187 (GRCm39) S341T probably damaging Het
Ryr3 T C 2: 112,588,046 (GRCm39) S2632G probably benign Het
Scube1 A G 15: 83,499,227 (GRCm39) C633R possibly damaging Het
Sdk1 A T 5: 142,024,078 (GRCm39) I723F probably damaging Het
Sec23a A T 12: 59,048,796 (GRCm39) C109S probably damaging Het
Septin11 T C 5: 93,296,287 (GRCm39) F60L probably damaging Het
Sgf29 G A 7: 126,271,063 (GRCm39) probably null Het
Skint5 A G 4: 113,413,308 (GRCm39) probably benign Het
Smo G A 6: 29,755,482 (GRCm39) V385I possibly damaging Het
Tada2a G A 11: 84,000,837 (GRCm39) T76I probably damaging Het
Tas2r118 T A 6: 23,969,422 (GRCm39) H213L possibly damaging Het
Thoc5 A T 11: 4,861,427 (GRCm39) probably benign Het
Tmem33 T A 5: 67,424,634 (GRCm39) probably null Het
Top1mt A G 15: 75,546,247 (GRCm39) L78P probably damaging Het
Uvssa T A 5: 33,571,228 (GRCm39) probably benign Het
Vmn2r50 A T 7: 9,784,062 (GRCm39) C137* probably null Het
Vmn2r81 A G 10: 79,129,691 (GRCm39) T861A probably benign Het
Wnt3 A T 11: 103,699,077 (GRCm39) N61I probably damaging Het
Zswim9 A G 7: 13,011,144 (GRCm39) I68T possibly damaging Het
Zzef1 T C 11: 72,803,771 (GRCm39) I2535T probably 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
IGL02028:Rbm19 APN 5 120,258,301 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGACATGCACAGTCCAGCGTTC -3'
(R):5'- TGTAACCCAAGCCCAGTGTATCCTC -3'

Sequencing Primer
(F):5'- AGTCCAGCGTTCCCAGTC -3'
(R):5'- cagatagatagacaggcagacag -3'
Posted On 2014-03-14