Incidental Mutation 'IGL02319:Rbm5'
ID288157
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbm5
Ensembl Gene ENSMUSG00000032580
Gene NameRNA binding motif protein 5
SynonymsD030069N10Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.944) question?
Stock #IGL02319
Quality Score
Status
Chromosome9
Chromosomal Location107740371-107770996 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 107743865 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 689 (L689*)
Ref Sequence ENSEMBL: ENSMUSP00000138379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035199] [ENSMUST00000182371] [ENSMUST00000182421] [ENSMUST00000182659]
Predicted Effect probably null
Transcript: ENSMUST00000035199
AA Change: L688*
SMART Domains Protein: ENSMUSP00000035199
Gene: ENSMUSG00000032580
AA Change: L688*

DomainStartEndE-ValueType
low complexity region 21 74 N/A INTRINSIC
RRM 99 174 5.98e-13 SMART
ZnF_RBZ 183 207 1.53e-6 SMART
RRM 232 311 9.5e-7 SMART
low complexity region 329 355 N/A INTRINSIC
low complexity region 362 385 N/A INTRINSIC
low complexity region 393 410 N/A INTRINSIC
low complexity region 425 446 N/A INTRINSIC
Blast:RRM_2 483 506 1e-5 BLAST
low complexity region 520 536 N/A INTRINSIC
low complexity region 569 581 N/A INTRINSIC
low complexity region 627 641 N/A INTRINSIC
ZnF_C2H2 647 672 5.2e0 SMART
coiled coil region 673 707 N/A INTRINSIC
G_patch 741 787 1.85e-21 SMART
Predicted Effect probably null
Transcript: ENSMUST00000182026
AA Change: L50*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182215
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182332
Predicted Effect probably benign
Transcript: ENSMUST00000182371
SMART Domains Protein: ENSMUSP00000138119
Gene: ENSMUSG00000032580

DomainStartEndE-ValueType
low complexity region 21 74 N/A INTRINSIC
SCOP:d1h6kx_ 96 138 6e-3 SMART
Blast:RRM 99 136 3e-19 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000182421
SMART Domains Protein: ENSMUSP00000138778
Gene: ENSMUSG00000032580

DomainStartEndE-ValueType
low complexity region 21 59 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000182659
AA Change: L689*
SMART Domains Protein: ENSMUSP00000138379
Gene: ENSMUSG00000032580
AA Change: L689*

DomainStartEndE-ValueType
low complexity region 21 74 N/A INTRINSIC
RRM 99 174 5.98e-13 SMART
ZnF_RBZ 183 207 1.53e-6 SMART
RRM 232 311 9.5e-7 SMART
low complexity region 329 355 N/A INTRINSIC
low complexity region 362 385 N/A INTRINSIC
low complexity region 393 410 N/A INTRINSIC
low complexity region 425 446 N/A INTRINSIC
Blast:RRM_2 483 506 1e-5 BLAST
low complexity region 520 536 N/A INTRINSIC
low complexity region 569 581 N/A INTRINSIC
low complexity region 627 641 N/A INTRINSIC
ZnF_C2H2 647 672 5.2e0 SMART
coiled coil region 673 707 N/A INTRINSIC
G_patch 741 787 1.85e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182792
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183307
Predicted Effect probably benign
Transcript: ENSMUST00000194400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194801
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 is a candidate tumor suppressor gene which encodes a nuclear RNA binding protein that is a component of the spliceosome A complex. The encoded protein plays a role in the induction of cell cycle arrest and apoptosis through pre-mRNA splicing of multiple target genes including the tumor suppressor protein p53. This gene is located within the tumor suppressor region 3p21.3, and may play a role in the inhibition of tumor transformation and progression of several malignancies including lung cancer. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit male infertility with azoospermia, male germ cell apoptosis, round spermatid arrest and spermatid differentiation arrest. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 T C 10: 106,948,750 Y537C probably damaging Het
Ambra1 A G 2: 91,886,920 H854R probably damaging Het
Atf7ip A G 6: 136,593,118 N981S probably benign Het
Atp6v1d A G 12: 78,861,456 S2P probably damaging Het
Cd59a A T 2: 104,114,028 I74F possibly damaging Het
Chek2 T C 5: 110,867,011 Y449H possibly damaging Het
Ctif C T 18: 75,521,873 probably benign Het
Dnaaf3 T C 7: 4,523,947 E403G probably damaging Het
Dock1 T G 7: 134,772,449 V608G possibly damaging Het
Fcf1 T C 12: 84,971,208 probably null Het
Fgf17 T G 14: 70,636,743 Q202P possibly damaging Het
Hnrnpm A T 17: 33,649,950 L501Q probably damaging Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Klra6 A T 6: 130,025,214 S2R probably damaging Het
Krtap19-9b T A 16: 88,932,114 Y33F unknown Het
Lpcat4 G A 2: 112,243,884 V264M probably damaging Het
Lyzl6 T C 11: 103,635,036 Y86C probably damaging Het
Myo18b T C 5: 112,791,139 K1669E probably damaging Het
Nbea A G 3: 55,985,738 V1558A probably damaging Het
Olfr1458 A G 19: 13,102,662 I214T probably benign Het
Olfr606 G A 7: 103,452,267 C310Y probably benign Het
Olfr643 A G 7: 104,058,933 I223T probably damaging Het
Olfr911-ps1 T A 9: 38,523,870 I46N probably damaging Het
Pex11b T C 3: 96,643,569 probably benign Het
Rd3 G T 1: 191,983,491 G76C probably null Het
Rgs16 A T 1: 153,742,106 I121F probably damaging Het
Tmem30a A T 9: 79,774,203 M264K probably damaging Het
Traf2 T C 2: 25,536,683 E127G probably damaging Het
Trmt11 A T 10: 30,560,873 D290E probably damaging Het
Wdr35 C A 12: 9,027,480 probably benign Het
Wnk2 A G 13: 49,061,438 S1211P possibly damaging Het
Other mutations in Rbm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02041:Rbm5 APN 9 107755846 unclassified probably benign
IGL02567:Rbm5 APN 9 107744274 missense probably damaging 1.00
IGL02868:Rbm5 APN 9 107749700 splice site probably benign
IGL02943:Rbm5 APN 9 107744343 missense probably damaging 1.00
IGL02959:Rbm5 APN 9 107754185 unclassified probably benign
IGL03029:Rbm5 APN 9 107754453 missense possibly damaging 0.46
PIT4403001:Rbm5 UTSW 9 107760336 missense probably damaging 1.00
R0001:Rbm5 UTSW 9 107742424 missense probably damaging 1.00
R0242:Rbm5 UTSW 9 107751708 splice site probably benign
R1170:Rbm5 UTSW 9 107742497 missense probably damaging 0.99
R1239:Rbm5 UTSW 9 107752966 unclassified probably benign
R1297:Rbm5 UTSW 9 107744242 missense probably damaging 1.00
R1719:Rbm5 UTSW 9 107743913 critical splice acceptor site probably null
R1764:Rbm5 UTSW 9 107767564 nonsense probably null
R1826:Rbm5 UTSW 9 107742414 missense probably damaging 0.98
R1863:Rbm5 UTSW 9 107750519 missense possibly damaging 0.70
R4112:Rbm5 UTSW 9 107765597 missense probably damaging 1.00
R4207:Rbm5 UTSW 9 107750483 missense probably benign
R4343:Rbm5 UTSW 9 107752196 missense probably damaging 1.00
R4441:Rbm5 UTSW 9 107749688 intron probably benign
R4621:Rbm5 UTSW 9 107754146 missense probably damaging 1.00
R4767:Rbm5 UTSW 9 107745213 missense probably damaging 1.00
R5090:Rbm5 UTSW 9 107760312 splice site probably benign
R5404:Rbm5 UTSW 9 107765553 missense probably damaging 1.00
R5876:Rbm5 UTSW 9 107760326 missense probably damaging 1.00
R5959:Rbm5 UTSW 9 107752140 missense probably benign 0.02
R5983:Rbm5 UTSW 9 107744942 missense probably damaging 1.00
R5984:Rbm5 UTSW 9 107744942 missense probably damaging 1.00
R7436:Rbm5 UTSW 9 107750394 intron probably null
R7447:Rbm5 UTSW 9 107746179 missense probably damaging 1.00
R7867:Rbm5 UTSW 9 107751731 missense probably benign 0.02
R7950:Rbm5 UTSW 9 107751731 missense probably benign 0.02
Posted On2015-04-16