Incidental Mutation 'R5081:Rbm14'
ID387159
Institutional Source Beutler Lab
Gene Symbol Rbm14
Ensembl Gene ENSMUSG00000006456
Gene NameRNA binding motif protein 14
SynonymsPSP2, 1300007E16Rik, p16
MMRRC Submission 042670-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5081 (G1)
Quality Score215
Status Validated
Chromosome19
Chromosomal Location4800569-4811634 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 4802795 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 520 (S520P)
Ref Sequence ENSEMBL: ENSMUSP00000006625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006625] [ENSMUST00000113793] [ENSMUST00000172000] [ENSMUST00000178353] [ENSMUST00000179909] [ENSMUST00000180008]
Predicted Effect probably benign
Transcript: ENSMUST00000006625
AA Change: S520P

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000006625
Gene: ENSMUSG00000006456
AA Change: S520P

DomainStartEndE-ValueType
RRM 2 69 1.96e-17 SMART
RRM 80 145 2.52e-20 SMART
low complexity region 212 225 N/A INTRINSIC
low complexity region 287 304 N/A INTRINSIC
low complexity region 346 357 N/A INTRINSIC
low complexity region 368 458 N/A INTRINSIC
low complexity region 483 511 N/A INTRINSIC
low complexity region 519 532 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000113793
AA Change: S520P
SMART Domains Protein: ENSMUSP00000109424
Gene: ENSMUSG00000006456
AA Change: S520P

DomainStartEndE-ValueType
RRM 2 69 1.96e-17 SMART
RRM 80 145 2.52e-20 SMART
low complexity region 212 225 N/A INTRINSIC
low complexity region 287 304 N/A INTRINSIC
low complexity region 346 357 N/A INTRINSIC
low complexity region 368 458 N/A INTRINSIC
low complexity region 483 511 N/A INTRINSIC
low complexity region 519 532 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172000
SMART Domains Protein: ENSMUSP00000128810
Gene: ENSMUSG00000096370

DomainStartEndE-ValueType
RRM 2 69 1.96e-17 SMART
Pfam:RRM_1 81 116 1.5e-5 PFAM
RRM 119 184 5.4e-20 SMART
RRM 195 260 4.77e-21 SMART
ZnF_C2HC 277 293 1.75e-5 SMART
low complexity region 343 362 N/A INTRINSIC
low complexity region 399 412 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177776
Predicted Effect probably benign
Transcript: ENSMUST00000178353
SMART Domains Protein: ENSMUSP00000136599
Gene: ENSMUSG00000096370

DomainStartEndE-ValueType
RRM 2 69 1.96e-17 SMART
Pfam:RRM_1 81 118 5.6e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178404
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178699
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178727
Predicted Effect probably benign
Transcript: ENSMUST00000179909
SMART Domains Protein: ENSMUSP00000136623
Gene: ENSMUSG00000096370

DomainStartEndE-ValueType
RRM 2 69 1.96e-17 SMART
RRM 80 138 1.83e0 SMART
ZnF_C2HC 136 152 1.75e-5 SMART
low complexity region 202 221 N/A INTRINSIC
low complexity region 258 271 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000180008
SMART Domains Protein: ENSMUSP00000137466
Gene: ENSMUSG00000006456

DomainStartEndE-ValueType
RRM 2 69 1.96e-17 SMART
Pfam:RRM_1 81 118 6e-7 PFAM
Meta Mutation Damage Score 0.0731 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 93% (65/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ribonucleoprotein that functions as a general nuclear coactivator, and an RNA splicing modulator. This protein contains two RNA recognition motifs (RRM) at the N-terminus, and multiple hexapeptide repeat domain at the C-terminus that interacts with thyroid hormone receptor-binding protein (TRBP), and is required for transcription activation. Alternatively spliced transcript variants encoding different isoforms (with opposing effects on transcription) have been described for this gene. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 G A 5: 30,903,059 R141Q probably damaging Het
AI593442 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 9: 52,677,814 probably benign Het
Aig1 A G 10: 13,801,900 I116T probably benign Het
Alox12 A T 11: 70,255,314 probably null Het
Ap3s1 T A 18: 46,754,430 D43E probably benign Het
Arhgap35 A G 7: 16,565,134 M2T possibly damaging Het
Asah2 T A 19: 32,014,308 E451V probably benign Het
Ash1l T G 3: 88,984,717 I1301S probably damaging Het
Ass1 G A 2: 31,488,653 probably null Het
Ccpg1 A G 9: 72,999,078 T39A possibly damaging Het
Cd101 T A 3: 101,003,705 Y879F possibly damaging Het
Cdc23 C A 18: 34,651,689 V7L unknown Het
Cdh23 T C 10: 60,436,807 T530A possibly damaging Het
Cep68 G T 11: 20,238,477 Q643K probably damaging Het
Ces1c A G 8: 93,127,569 S113P probably damaging Het
Cnga4 T C 7: 105,407,025 I278T probably benign Het
Col1a1 A G 11: 94,951,576 D1440G unknown Het
Cspp1 A G 1: 10,047,466 I48V possibly damaging Het
Ctsj T A 13: 61,003,850 S85C possibly damaging Het
Cyp39a1 C A 17: 43,746,597 D442E probably damaging Het
Dock3 A T 9: 106,991,093 F664Y probably damaging Het
Gpcpd1 A T 2: 132,547,702 H244Q probably benign Het
Gtf3a T A 5: 146,951,282 V131E probably benign Het
Gtpbp3 A T 8: 71,490,382 R147W probably damaging Het
H2-Ke6 G A 17: 34,027,578 probably benign Het
H2-Oa A T 17: 34,094,370 I132F probably damaging Het
Idi1 T A 13: 8,887,927 C91* probably null Het
Itga11 A G 9: 62,755,196 I484V probably benign Het
Kpna3 C T 14: 61,391,245 S101N probably damaging Het
Larp4 G A 15: 99,973,017 probably benign Het
Mink1 T C 11: 70,605,144 L390P probably damaging Het
Morc1 T G 16: 48,502,352 S337R probably benign Het
Myo10 A G 15: 25,785,940 R1236G probably damaging Het
Nkx3-1 T C 14: 69,191,947 I138T possibly damaging Het
Nnt T C 13: 119,366,400 N489S probably damaging Het
Nrcam A T 12: 44,570,353 I711F probably benign Het
Ntrk3 A G 7: 78,577,774 S4P probably damaging Het
Obsl1 T C 1: 75,487,963 T1605A possibly damaging Het
Olfr346 A G 2: 36,688,643 I214V possibly damaging Het
Olfr851 A G 9: 19,497,261 E171G probably benign Het
Pank1 T C 19: 34,878,916 H54R probably benign Het
Pgm2l1 A G 7: 100,268,265 I530V probably benign Het
Psmd2 A G 16: 20,661,655 T709A probably benign Het
Qsox1 G T 1: 155,812,835 probably benign Het
Rbm15b G A 9: 106,884,921 R683C probably benign Het
Rhbdd2 T A 5: 135,636,022 V69D probably damaging Het
Sart1 T C 19: 5,388,548 E27G possibly damaging Het
Scn4a G A 11: 106,348,727 P153L probably damaging Het
Serpinb6d A T 13: 33,671,247 R301S probably benign Het
Sf3a2 C A 10: 80,804,441 probably benign Het
Syne1 T C 10: 5,047,767 D400G probably benign Het
Tenm2 T C 11: 36,024,633 S2025G possibly damaging Het
Ttc16 A T 2: 32,767,976 D476E probably damaging Het
Ttc9c A T 19: 8,816,032 C81* probably null Het
Ulk2 G A 11: 61,803,662 P474L probably damaging Het
Vmn1r66 A G 7: 10,274,795 C104R probably damaging Het
Vwa2 C T 19: 56,909,320 H686Y probably damaging Het
Other mutations in Rbm14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Rbm14 APN 19 4802548 intron probably benign
IGL00430:Rbm14 APN 19 4811426 missense probably damaging 1.00
IGL02226:Rbm14 APN 19 4801717 unclassified probably benign
R1732:Rbm14 UTSW 19 4803467 missense probably benign 0.03
R1840:Rbm14 UTSW 19 4801795 intron probably benign
R2044:Rbm14 UTSW 19 4803877 missense possibly damaging 0.90
R2362:Rbm14 UTSW 19 4801707 unclassified probably benign
R4656:Rbm14 UTSW 19 4811435 missense probably damaging 1.00
R4771:Rbm14 UTSW 19 4802643 intron probably benign
R5729:Rbm14 UTSW 19 4802549 intron probably benign
R6432:Rbm14 UTSW 19 4803163 intron probably benign
R6905:Rbm14 UTSW 19 4803236 intron probably benign
Predicted Primers PCR Primer
(F):5'- TGTTCAGACACTCACCCTCATG -3'
(R):5'- ACCAGTTGTTCAGACCCAGC -3'

Sequencing Primer
(F):5'- GGCATACAGTACCTTTTTGACATGGC -3'
(R):5'- CAGTTGTTCAGACCCAGCTGAATAG -3'
Posted On2016-06-06