Incidental Mutation 'R1183:Rbpms'
ID 101751
Institutional Source Beutler Lab
Gene Symbol Rbpms
Ensembl Gene ENSMUSG00000031586
Gene Name RNA binding protein gene with multiple splicing
Synonyms 2700019M19Rik, hermes, 2010300K22Rik
MMRRC Submission 039255-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.656) question?
Stock # R1183 (G1)
Quality Score 199
Status Not validated
Chromosome 8
Chromosomal Location 34272671-34419891 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 34294100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 214 (Q214H)
Ref Sequence ENSEMBL: ENSMUSP00000033995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033994] [ENSMUST00000033995] [ENSMUST00000053251] [ENSMUST00000182256] [ENSMUST00000183336] [ENSMUST00000191473] [ENSMUST00000182987] [ENSMUST00000183062] [ENSMUST00000183088]
AlphaFold Q9WVB0
Predicted Effect probably benign
Transcript: ENSMUST00000033994
SMART Domains Protein: ENSMUSP00000033994
Gene: ENSMUSG00000031586

DomainStartEndE-ValueType
RRM 25 97 7.84e-8 SMART
low complexity region 149 172 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000033995
AA Change: Q214H

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000033995
Gene: ENSMUSG00000031586
AA Change: Q214H

DomainStartEndE-ValueType
RRM 25 97 7.84e-8 SMART
low complexity region 149 172 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000053251
SMART Domains Protein: ENSMUSP00000055813
Gene: ENSMUSG00000031586

DomainStartEndE-ValueType
RRM 25 97 7.84e-8 SMART
low complexity region 149 172 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182184
Predicted Effect probably benign
Transcript: ENSMUST00000182256
SMART Domains Protein: ENSMUSP00000138140
Gene: ENSMUSG00000031586

DomainStartEndE-ValueType
low complexity region 45 68 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182926
Predicted Effect probably benign
Transcript: ENSMUST00000183336
SMART Domains Protein: ENSMUSP00000138533
Gene: ENSMUSG00000031586

DomainStartEndE-ValueType
low complexity region 12 35 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191473
SMART Domains Protein: ENSMUSP00000140387
Gene: ENSMUSG00000031586

DomainStartEndE-ValueType
RRM 25 97 7.84e-8 SMART
low complexity region 149 172 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182987
SMART Domains Protein: ENSMUSP00000138483
Gene: ENSMUSG00000031586

DomainStartEndE-ValueType
RRM 25 97 7.84e-8 SMART
low complexity region 149 172 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183062
SMART Domains Protein: ENSMUSP00000138726
Gene: ENSMUSG00000031586

DomainStartEndE-ValueType
low complexity region 45 63 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231786
Predicted Effect probably benign
Transcript: ENSMUST00000183088
SMART Domains Protein: ENSMUSP00000138420
Gene: ENSMUSG00000031586

DomainStartEndE-ValueType
RRM 23 95 7.84e-8 SMART
low complexity region 147 159 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 88.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RNA recognition motif family of RNA-binding proteins. The RNA recognition motif is between 80-100 amino acids in length and family members contain one to four copies of the motif. The RNA recognition motif consists of two short stretches of conserved sequence, as well as a few highly conserved hydrophobic residues. The encoded protein has a single, putative RNA recognition motif in its N-terminus. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T G 8: 111,768,206 (GRCm39) Y192* probably null Het
Abcc6 T C 7: 45,634,677 (GRCm39) Y1100C probably damaging Het
Adamtsl2 T C 2: 26,974,092 (GRCm39) W132R probably damaging Het
Adgra2 T A 8: 27,604,416 (GRCm39) V497E probably damaging Het
Adtrp T G 13: 41,981,813 (GRCm39) probably benign Het
Alg9 T A 9: 50,700,833 (GRCm39) L201Q possibly damaging Het
Ap4e1 T A 2: 126,856,121 (GRCm39) I84K probably damaging Het
Atrnl1 T C 19: 57,638,725 (GRCm39) S288P probably damaging Het
Bltp1 T A 3: 36,949,452 (GRCm39) L366Q possibly damaging Het
Cacna1a A G 8: 85,306,846 (GRCm39) D1367G probably damaging Het
Card19 C T 13: 49,358,727 (GRCm39) R82Q probably damaging Het
Cep128 T C 12: 91,292,372 (GRCm39) I226V possibly damaging Het
Ces1f A C 8: 93,994,633 (GRCm39) D259E probably benign Het
Ckap5 T A 2: 91,416,611 (GRCm39) M1072K probably benign Het
Dcpp2 T A 17: 24,119,468 (GRCm39) V94D probably benign Het
Dnah2 T C 11: 69,337,474 (GRCm39) D3209G possibly damaging Het
Dsg1c A G 18: 20,416,255 (GRCm39) T719A probably damaging Het
Dsp G A 13: 38,375,716 (GRCm39) W1167* probably null Het
Eml5 T C 12: 98,758,305 (GRCm39) I1874V probably benign Het
Epg5 A G 18: 78,003,926 (GRCm39) T645A probably damaging Het
F2rl2 T C 13: 95,837,621 (GRCm39) L222S probably damaging Het
Fam114a1 T A 5: 65,191,731 (GRCm39) C495S probably damaging Het
Fbn1 A T 2: 125,163,537 (GRCm39) D2106E probably benign Het
Fgf14 T A 14: 124,913,936 (GRCm39) N65I probably benign Het
Fip1l1 T C 5: 74,755,763 (GRCm39) Y497H probably damaging Het
Fn1 A C 1: 71,625,404 (GRCm39) D2376E probably damaging Het
Foxd2 T C 4: 114,764,662 (GRCm39) T453A possibly damaging Het
Galnt1 G T 18: 24,404,647 (GRCm39) W328L probably damaging Het
Gapt A G 13: 110,490,372 (GRCm39) V97A possibly damaging Het
Gatad1 A G 5: 3,693,707 (GRCm39) V154A possibly damaging Het
Gdf15 A G 8: 71,084,202 (GRCm39) F21L probably benign Het
Igdcc4 T C 9: 65,029,182 (GRCm39) F273S possibly damaging Het
Invs A T 4: 48,421,725 (GRCm39) R786W possibly damaging Het
Itfg1 T G 8: 86,507,152 (GRCm39) E236A probably benign Het
Jak3 A T 8: 72,137,194 (GRCm39) I752F probably damaging Het
Kcnip3 C A 2: 127,306,985 (GRCm39) G144W probably damaging Het
Kctd19 T C 8: 106,109,598 (GRCm39) H925R probably benign Het
Kdr C T 5: 76,107,511 (GRCm39) A1011T probably damaging Het
Kif13b C A 14: 65,019,826 (GRCm39) H1398Q probably benign Het
Lrp4 A T 2: 91,307,864 (GRCm39) probably null Het
Lrtm2 T C 6: 119,297,846 (GRCm39) D65G probably benign Het
Lyz1 A G 10: 117,128,715 (GRCm39) L10P probably damaging Het
Metap2 A T 10: 93,706,046 (GRCm39) N245K probably damaging Het
Mms19 T C 19: 41,943,270 (GRCm39) D297G possibly damaging Het
Mocs3 A G 2: 168,073,573 (GRCm39) D340G possibly damaging Het
Mtfr1l A G 4: 134,256,436 (GRCm39) L243P probably damaging Het
Mtss1 A G 15: 58,842,897 (GRCm39) I105T probably damaging Het
Myo18a T C 11: 77,748,571 (GRCm39) S1967P probably damaging Het
Ncor2 T C 5: 125,100,585 (GRCm39) N2248S possibly damaging Het
Nfatc2 T C 2: 168,432,008 (GRCm39) D35G possibly damaging Het
Nup210l T A 3: 90,067,252 (GRCm39) M764K probably benign Het
Or10a3n A G 7: 108,492,948 (GRCm39) L222P probably damaging Het
Otof T C 5: 30,529,256 (GRCm39) S1753G probably damaging Het
Otog G A 7: 45,939,179 (GRCm39) V2070I probably benign Het
Piezo2 A G 18: 63,219,824 (GRCm39) V961A probably damaging Het
Pofut1 C T 2: 153,103,158 (GRCm39) S169L probably benign Het
Ppp1r10 T A 17: 36,240,335 (GRCm39) S542T possibly damaging Het
Prpf8 T C 11: 75,381,156 (GRCm39) Y219H possibly damaging Het
Ptges3l T C 11: 101,312,731 (GRCm39) D113G possibly damaging Het
Pycr3 G A 15: 75,790,647 (GRCm39) L71F probably benign Het
Ramp3 A G 11: 6,624,867 (GRCm39) K54E possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Robo4 C A 9: 37,319,348 (GRCm39) D565E probably damaging Het
S100a1 C T 3: 90,418,641 (GRCm39) V58I probably benign Het
Setx T A 2: 29,070,104 (GRCm39) D2636E probably benign Het
Sun2 A T 15: 79,612,669 (GRCm39) V417E probably damaging Het
Tbccd1 T C 16: 22,660,519 (GRCm39) N99S probably benign Het
Tex15 A G 8: 34,064,893 (GRCm39) D1441G probably benign Het
Tmc2 T A 2: 130,089,896 (GRCm39) M627K probably damaging Het
Trim32 A G 4: 65,532,628 (GRCm39) Y395C probably benign Het
Trpm2 A G 10: 77,759,398 (GRCm39) Y1129H probably damaging Het
Trpm8 A T 1: 88,275,813 (GRCm39) R470S probably damaging Het
Tsg101 G T 7: 46,539,372 (GRCm39) D389E probably benign Het
Ubn1 T C 16: 4,882,406 (GRCm39) L46P probably damaging Het
Ubr5 T C 15: 37,997,419 (GRCm39) I1745V possibly damaging Het
Usp20 T C 2: 30,901,797 (GRCm39) Y521H probably benign Het
Vmn1r159 A T 7: 22,543,019 (GRCm39) H4Q probably null Het
Vmn2r27 T A 6: 124,177,491 (GRCm39) E504D probably benign Het
Wdr72 A T 9: 74,086,867 (GRCm39) I612F probably benign Het
Zbtb8a T C 4: 129,251,520 (GRCm39) H317R possibly damaging Het
Zfp507 T C 7: 35,494,315 (GRCm39) S243G probably damaging Het
Zfp764 A G 7: 127,005,419 (GRCm39) W73R probably damaging Het
Zmym4 A T 4: 126,819,632 (GRCm39) D90E probably damaging Het
Other mutations in Rbpms
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4354001:Rbpms UTSW 8 34,296,866 (GRCm39) missense possibly damaging 0.61
R0637:Rbpms UTSW 8 34,296,864 (GRCm39) missense probably damaging 1.00
R2850:Rbpms UTSW 8 34,324,405 (GRCm39) missense possibly damaging 0.94
R6722:Rbpms UTSW 8 34,324,421 (GRCm39) missense probably damaging 1.00
R7576:Rbpms UTSW 8 34,356,416 (GRCm39) missense probably damaging 1.00
R7689:Rbpms UTSW 8 34,354,387 (GRCm39) missense possibly damaging 0.58
R7699:Rbpms UTSW 8 34,354,391 (GRCm39) missense probably damaging 1.00
R7763:Rbpms UTSW 8 34,279,481 (GRCm39) missense probably benign
R7909:Rbpms UTSW 8 34,354,387 (GRCm39) missense probably damaging 1.00
R9374:Rbpms UTSW 8 34,294,173 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- ACCTCGGCTCCAAAATTGTAGCAC -3'
(R):5'- GGCTCACCAGAGACTTGCTCTTAC -3'

Sequencing Primer
(F):5'- CAAAATTGTAGCACCGTGAAAAC -3'
(R):5'- AGCCCAACACACCTGTCTTT -3'
Posted On 2014-01-15