Incidental Mutation 'IGL02226:Rbm14'
ID285355
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbm14
Ensembl Gene ENSMUSG00000006456
Gene NameRNA binding motif protein 14
SynonymsPSP2, 1300007E16Rik, p16
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02226
Quality Score
Status
Chromosome19
Chromosomal Location4800569-4811634 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 4801717 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006625] [ENSMUST00000113793] [ENSMUST00000172000] [ENSMUST00000178353] [ENSMUST00000179909] [ENSMUST00000180008]
Predicted Effect unknown
Transcript: ENSMUST00000006625
AA Change: S631P
SMART Domains Protein: ENSMUSP00000006625
Gene: ENSMUSG00000006456
AA Change: S631P

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: ENSMUST00000113793
SMART Domains Protein: ENSMUSP00000109424
Gene: ENSMUSG00000006456

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
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 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930415L06Rik A C X: 89,931,912 D226E probably damaging Het
Akap6 T C 12: 53,010,467 probably benign Het
Ankrd11 G A 8: 122,892,245 R1602W probably damaging Het
Arhgap23 G T 11: 97,451,600 R236L probably benign Het
Aurkaip1 T C 4: 155,832,571 V92A probably benign Het
Cdh20 A T 1: 104,954,091 probably benign Het
Ctnnd2 A G 15: 30,847,336 N691S probably benign Het
Ddx24 A C 12: 103,424,458 D2E possibly damaging Het
Dennd5b A G 6: 149,033,301 S691P probably benign Het
Dhrs3 C T 4: 144,923,949 R248W possibly damaging Het
Dlgap1 T C 17: 70,516,034 S5P probably damaging Het
Ep300 A T 15: 81,613,412 M510L unknown Het
Fbxo25 T C 8: 13,923,922 probably benign Het
Gm3252 A T 14: 4,743,741 K193M possibly damaging Het
Gtf3c1 T C 7: 125,667,990 probably null Het
Helz2 T C 2: 181,231,690 D2337G probably damaging Het
Idh1 A T 1: 65,161,922 M290K probably damaging Het
Layn T C 9: 51,074,017 S80G probably damaging Het
Ltbp4 C T 7: 27,306,934 E1440K probably damaging Het
Mri1 T C 8: 84,256,295 T166A probably damaging Het
Myod1 C T 7: 46,378,306 T290I probably benign Het
Nfat5 T A 8: 107,351,522 L431* probably null Het
Nle1 A T 11: 82,904,307 Y299* probably null Het
Nlrp4c T A 7: 6,066,829 F576L possibly damaging Het
Nudt21 G T 8: 94,019,701 S123* probably null Het
Plekhg1 A C 10: 3,945,916 D436A probably damaging Het
Plxna2 T C 1: 194,644,424 V222A probably damaging Het
Scfd1 T A 12: 51,389,381 probably benign Het
Slc34a2 A G 5: 53,067,731 T405A probably benign Het
Slc39a9 T A 12: 80,644,921 M14K probably damaging Het
Slc39a9 G A 12: 80,644,922 M14I probably damaging Het
Spast G A 17: 74,372,339 probably benign Het
Spen T C 4: 141,478,146 R1057G unknown Het
Sptbn4 T G 7: 27,365,707 T2056P probably damaging Het
Ssrp1 T C 2: 85,040,361 L148P probably damaging Het
Tdrd6 T A 17: 43,627,202 H985L probably damaging Het
Tmem44 A G 16: 30,539,381 probably benign Het
Vmn2r116 T A 17: 23,384,834 L11Q probably null Het
Wdr78 A T 4: 103,090,398 I227K probably benign 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
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
R5081:Rbm14 UTSW 19 4802795 missense probably benign 0.23
R5729:Rbm14 UTSW 19 4802549 intron probably benign
R6432:Rbm14 UTSW 19 4803163 intron probably benign
R6905:Rbm14 UTSW 19 4803236 intron probably benign
Posted On2015-04-16