Incidental Mutation 'R1764:Rbm5'
ID 193306
Institutional Source Beutler Lab
Gene Symbol Rbm5
Ensembl Gene ENSMUSG00000032580
Gene Name RNA binding motif protein 5
Synonyms D030069N10Rik
MMRRC Submission 039796-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.928) question?
Stock # R1764 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 107617694-107648228 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 107644763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 11 (Y11*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035199] [ENSMUST00000182022] [ENSMUST00000182304] [ENSMUST00000182371] [ENSMUST00000182421] [ENSMUST00000192130] [ENSMUST00000183248] [ENSMUST00000182659]
AlphaFold Q91YE7
Predicted Effect probably null
Transcript: ENSMUST00000035199
AA Change: Y54*
SMART Domains Protein: ENSMUSP00000035199
Gene: ENSMUSG00000032580
AA Change: Y54*

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: ENSMUST00000181993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182007
Predicted Effect probably null
Transcript: ENSMUST00000182022
AA Change: Y54*
SMART Domains Protein: ENSMUSP00000138390
Gene: ENSMUSG00000032580
AA Change: Y54*

DomainStartEndE-ValueType
low complexity region 21 74 N/A INTRINSIC
SCOP:d1h6kx_ 96 137 2e-3 SMART
Blast:RRM 99 137 3e-20 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182073
Predicted Effect probably null
Transcript: ENSMUST00000182304
AA Change: Y54*
SMART Domains Protein: ENSMUSP00000138380
Gene: ENSMUSG00000032580
AA Change: Y54*

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
PDB:2LKZ|A 231 251 5e-6 PDB
Predicted Effect probably null
Transcript: ENSMUST00000182371
AA Change: Y54*
SMART Domains Protein: ENSMUSP00000138119
Gene: ENSMUSG00000032580
AA Change: Y54*

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 null
Transcript: ENSMUST00000182421
AA Change: Y54*
SMART Domains Protein: ENSMUSP00000138778
Gene: ENSMUSG00000032580
AA Change: Y54*

DomainStartEndE-ValueType
low complexity region 21 59 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000192130
AA Change: Y54*
SMART Domains Protein: ENSMUSP00000142194
Gene: ENSMUSG00000032580
AA Change: Y54*

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 null
Transcript: ENSMUST00000183248
AA Change: Y54*
SMART Domains Protein: ENSMUSP00000138294
Gene: ENSMUSG00000032580
AA Change: Y54*

DomainStartEndE-ValueType
low complexity region 21 74 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000182659
AA Change: Y54*
SMART Domains Protein: ENSMUSP00000138379
Gene: ENSMUSG00000032580
AA Change: Y54*

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: ENSMUST00000193342
AA Change: Y11*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194573
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183307
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.2%
Validation Efficiency 94% (94/100)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A G 5: 109,884,655 (GRCm39) V401A probably benign Het
Abca7 G T 10: 79,844,784 (GRCm39) W1502L probably damaging Het
Adcy7 A G 8: 89,035,468 (GRCm39) E124G probably benign Het
Aif1l G A 2: 31,855,118 (GRCm39) E66K probably benign Het
Aldh8a1 A T 10: 21,271,392 (GRCm39) M373L probably benign Het
Alg6 T C 4: 99,629,815 (GRCm39) Y131H probably benign Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Arrdc4 A T 7: 68,391,622 (GRCm39) I215K probably damaging Het
Asb4 A G 6: 5,390,798 (GRCm39) probably null Het
Astn1 T C 1: 158,331,821 (GRCm39) I305T probably benign Het
Atp5f1b T A 10: 127,919,949 (GRCm39) probably benign Het
Atp8a1 C A 5: 67,788,910 (GRCm39) M1044I probably benign Het
Atp9b C T 18: 80,952,806 (GRCm39) probably null Het
Brd10 T A 19: 29,696,560 (GRCm39) T978S possibly damaging Het
Btaf1 A G 19: 36,928,518 (GRCm39) H113R probably benign Het
C87436 G T 6: 86,430,594 (GRCm39) C338F possibly damaging Het
Casz1 T C 4: 149,027,357 (GRCm39) probably benign Het
Cbr3 T A 16: 93,487,370 (GRCm39) H184Q probably damaging Het
Cct8l1 T C 5: 25,722,097 (GRCm39) S271P possibly damaging Het
Cdc34 A G 10: 79,521,174 (GRCm39) K77R probably benign Het
Cdc34 G T 10: 79,521,172 (GRCm39) probably null Het
Cdh20 A G 1: 104,862,070 (GRCm39) probably benign Het
Celsr3 A G 9: 108,706,157 (GRCm39) E880G probably damaging Het
Cers1 T G 8: 70,774,141 (GRCm39) probably null Het
Cntn5 T C 9: 9,673,988 (GRCm39) I705V probably benign Het
Dennd4c T A 4: 86,721,247 (GRCm39) D636E probably damaging Het
Dnah11 T C 12: 118,154,560 (GRCm39) E240G probably benign Het
Dnah2 T C 11: 69,314,369 (GRCm39) Y4100C probably damaging Het
Dpysl3 T C 18: 43,496,583 (GRCm39) E151G probably damaging Het
Efcab9 T G 11: 32,474,457 (GRCm39) T9P possibly damaging Het
Eif4g2 A T 7: 110,673,694 (GRCm39) F725Y probably damaging Het
Epha6 T A 16: 59,596,091 (GRCm39) I867F probably null Het
Erbin T C 13: 103,979,959 (GRCm39) probably benign Het
Evi5l A G 8: 4,253,560 (GRCm39) E468G probably damaging Het
Filip1l C T 16: 57,390,401 (GRCm39) R330W probably damaging Het
Fmo3 C T 1: 162,786,142 (GRCm39) V283M possibly damaging Het
Gabarapl1 A T 6: 129,510,481 (GRCm39) K24N possibly damaging Het
Gigyf1 C T 5: 137,520,770 (GRCm39) probably benign Het
Gm5581 T A 6: 131,158,362 (GRCm39) noncoding transcript Het
Gon4l G T 3: 88,799,906 (GRCm39) K850N probably damaging Het
Igf2bp3 C T 6: 49,085,980 (GRCm39) R233H probably damaging Het
Iqcf4 G A 9: 106,445,893 (GRCm39) R85C probably benign Het
Kalrn C T 16: 34,033,243 (GRCm39) R473Q probably damaging Het
Lmod2 T A 6: 24,603,376 (GRCm39) V117E probably damaging Het
Mapk11 A G 15: 89,028,594 (GRCm39) probably null Het
Mcm3 G A 1: 20,876,103 (GRCm39) R664C probably damaging Het
Mex3d A G 10: 80,222,770 (GRCm39) M162T probably benign Het
Mrgprb3 A G 7: 48,292,771 (GRCm39) I260T probably benign Het
Ncor2 G T 5: 125,105,679 (GRCm39) A1637D possibly damaging Het
Nedd4 T A 9: 72,638,189 (GRCm39) D441E probably damaging Het
Nek5 A T 8: 22,599,928 (GRCm39) C194S probably damaging Het
Nos1ap T C 1: 170,146,447 (GRCm39) D369G possibly damaging Het
Ntrk1 G T 3: 87,687,391 (GRCm39) T681K probably damaging Het
Or13a24 T C 7: 140,154,383 (GRCm39) W106R probably damaging Het
Or4f14 A G 2: 111,742,526 (GRCm39) F250L possibly damaging Het
Otogl C T 10: 107,735,322 (GRCm39) W154* probably null Het
Pcdh20 T C 14: 88,706,620 (GRCm39) T227A possibly damaging Het
Pcdhb17 T C 18: 37,620,324 (GRCm39) S705P probably damaging Het
Piezo2 T C 18: 63,257,713 (GRCm39) H335R possibly damaging Het
Pkn2 T C 3: 142,499,615 (GRCm39) Q954R probably damaging Het
Pramel23 C A 4: 143,424,840 (GRCm39) C201F probably benign Het
Prkcq G A 2: 11,237,442 (GRCm39) V74M probably damaging Het
Prkrip1 A T 5: 136,218,489 (GRCm39) probably null Het
Pttg1ip2 A T 5: 5,528,943 (GRCm39) I24N possibly damaging Het
Rb1cc1 A G 1: 6,284,904 (GRCm39) probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Ryr3 C A 2: 112,690,805 (GRCm39) V1082L probably damaging Het
Scart2 A G 7: 139,877,178 (GRCm39) E831G probably benign Het
Sel1l3 C A 5: 53,327,789 (GRCm39) E497* probably null Het
Serpina6 A T 12: 103,620,182 (GRCm39) I189N probably damaging Het
Serpinb11 A T 1: 107,304,532 (GRCm39) T166S probably benign Het
Skint7 T C 4: 111,839,270 (GRCm39) L188S probably benign Het
Slc25a45 C T 19: 5,934,958 (GRCm39) A269V probably damaging Het
Sltm A G 9: 70,469,082 (GRCm39) T114A probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Spen C A 4: 141,200,261 (GRCm39) V2766L probably damaging Het
Srgap2 T A 1: 131,247,275 (GRCm39) I445F possibly damaging Het
Stox2 A T 8: 47,647,051 (GRCm39) Y200* probably null Het
Strada C A 11: 106,055,010 (GRCm39) R384L probably damaging Het
Tctn2 G A 5: 124,757,094 (GRCm39) noncoding transcript Het
Tgfbr3l G T 8: 4,299,282 (GRCm39) R461L probably benign Het
Tmem65 A G 15: 58,661,998 (GRCm39) probably benign Het
Tpst1 G T 5: 130,143,343 (GRCm39) V294F possibly damaging Het
Trim23 A G 13: 104,335,126 (GRCm39) Y384C probably damaging Het
Ube3b C G 5: 114,542,678 (GRCm39) L512V possibly damaging Het
Ubxn4 T A 1: 128,183,916 (GRCm39) V92E probably damaging Het
Vmn2r57 A T 7: 41,050,067 (GRCm39) C561S probably damaging Het
Vwa8 A G 14: 79,145,635 (GRCm39) D104G probably damaging Het
Wdr25 T A 12: 108,992,364 (GRCm39) L73* probably null Het
Wnt9a G A 11: 59,221,728 (GRCm39) A209T probably benign Het
Zcchc17 A C 4: 130,223,388 (GRCm39) C133G probably damaging Het
Zdhhc18 T A 4: 133,335,987 (GRCm39) M375L probably benign Het
Zfhx3 T C 8: 109,678,276 (GRCm39) F3109L probably benign Het
Zfp202 T A 9: 40,121,762 (GRCm39) D286E probably benign Het
Zzef1 T C 11: 72,784,158 (GRCm39) L2021P probably benign Het
Other mutations in Rbm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02041:Rbm5 APN 9 107,633,045 (GRCm39) unclassified probably benign
IGL02319:Rbm5 APN 9 107,621,064 (GRCm39) nonsense probably null
IGL02567:Rbm5 APN 9 107,621,473 (GRCm39) missense probably damaging 1.00
IGL02868:Rbm5 APN 9 107,626,899 (GRCm39) splice site probably benign
IGL02943:Rbm5 APN 9 107,621,542 (GRCm39) missense probably damaging 1.00
IGL02959:Rbm5 APN 9 107,631,384 (GRCm39) unclassified probably benign
IGL03029:Rbm5 APN 9 107,631,652 (GRCm39) missense possibly damaging 0.46
PIT4403001:Rbm5 UTSW 9 107,637,535 (GRCm39) missense probably damaging 1.00
R0001:Rbm5 UTSW 9 107,619,623 (GRCm39) missense probably damaging 1.00
R0242:Rbm5 UTSW 9 107,628,907 (GRCm39) splice site probably benign
R1170:Rbm5 UTSW 9 107,619,696 (GRCm39) missense probably damaging 0.99
R1239:Rbm5 UTSW 9 107,630,165 (GRCm39) unclassified probably benign
R1297:Rbm5 UTSW 9 107,621,441 (GRCm39) missense probably damaging 1.00
R1719:Rbm5 UTSW 9 107,621,112 (GRCm39) critical splice acceptor site probably null
R1826:Rbm5 UTSW 9 107,619,613 (GRCm39) missense probably damaging 0.98
R1863:Rbm5 UTSW 9 107,627,718 (GRCm39) missense possibly damaging 0.70
R4112:Rbm5 UTSW 9 107,642,796 (GRCm39) missense probably damaging 1.00
R4207:Rbm5 UTSW 9 107,627,682 (GRCm39) missense probably benign
R4343:Rbm5 UTSW 9 107,629,395 (GRCm39) missense probably damaging 1.00
R4441:Rbm5 UTSW 9 107,626,887 (GRCm39) intron probably benign
R4621:Rbm5 UTSW 9 107,631,345 (GRCm39) missense probably damaging 1.00
R4767:Rbm5 UTSW 9 107,622,412 (GRCm39) missense probably damaging 1.00
R5090:Rbm5 UTSW 9 107,637,511 (GRCm39) splice site probably benign
R5404:Rbm5 UTSW 9 107,642,752 (GRCm39) missense probably damaging 1.00
R5876:Rbm5 UTSW 9 107,637,525 (GRCm39) missense probably damaging 1.00
R5959:Rbm5 UTSW 9 107,629,339 (GRCm39) missense probably benign 0.02
R5983:Rbm5 UTSW 9 107,622,141 (GRCm39) missense probably damaging 1.00
R5984:Rbm5 UTSW 9 107,622,141 (GRCm39) missense probably damaging 1.00
R7436:Rbm5 UTSW 9 107,627,593 (GRCm39) splice site probably null
R7447:Rbm5 UTSW 9 107,623,378 (GRCm39) missense probably damaging 1.00
R7867:Rbm5 UTSW 9 107,628,930 (GRCm39) missense probably benign 0.02
R9377:Rbm5 UTSW 9 107,627,252 (GRCm39) missense probably benign 0.07
R9602:Rbm5 UTSW 9 107,629,152 (GRCm39) missense probably benign
R9694:Rbm5 UTSW 9 107,622,152 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CAGCCTATCTTCTATAAGGGTGCATTGG -3'
(R):5'- TTTTCTCGCAGAGTGAGTAGAACAGAAC -3'

Sequencing Primer
(F):5'- AGTACTCAAAGGAGTCCATGTC -3'
(R):5'- ACGTAGTGGAAGATATGGTTCCATC -3'
Posted On 2014-05-23