Incidental Mutation 'R6432:Rbm14'
ID 518613
Institutional Source Beutler Lab
Gene Symbol Rbm14
Ensembl Gene ENSMUSG00000006456
Gene Name RNA binding motif protein 14
Synonyms 1300007E16Rik, PSP2, p16
MMRRC Submission 044570-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6432 (G1)
Quality Score 148.008
Status Validated
Chromosome 19
Chromosomal Location 4850597-4861662 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to T at 4853191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006625] [ENSMUST00000113793] [ENSMUST00000172000] [ENSMUST00000178353] [ENSMUST00000180008] [ENSMUST00000179909]
AlphaFold Q8C2Q3
Predicted Effect unknown
Transcript: ENSMUST00000006625
AA Change: A397D
SMART Domains Protein: ENSMUSP00000006625
Gene: ENSMUSG00000006456
AA Change: A397D

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: A397D
SMART Domains Protein: ENSMUSP00000109424
Gene: ENSMUSG00000006456
AA Change: A397D

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: ENSMUST00000180008
SMART Domains Protein: ENSMUSP00000137466
Gene: ENSMUSG00000006456

DomainStartEndE-ValueType
RRM 2 69 1.96e-17 SMART
Pfam:RRM_1 81 118 6e-7 PFAM
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.3%
Validation Efficiency 100% (42/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora3 T A 3: 105,814,991 (GRCm39) L101* probably null Het
Atf7ip2 T C 16: 10,022,534 (GRCm39) I71T probably damaging Het
Atp2c1 A G 9: 105,322,512 (GRCm39) C206R probably damaging Het
Cacna1d A G 14: 29,845,411 (GRCm39) L606P probably damaging Het
Cass4 T C 2: 172,269,639 (GRCm39) F574L probably damaging Het
Cdcp3 G A 7: 130,846,601 (GRCm39) probably null Het
Col17a1 C A 19: 47,668,847 (GRCm39) E126* probably null Het
Cxadr A C 16: 78,122,147 (GRCm39) D49A probably damaging Het
Dact1 T C 12: 71,365,327 (GRCm39) S703P probably damaging Het
Dchs2 T A 3: 83,178,425 (GRCm39) H1159Q possibly damaging Het
Dnmt3a T A 12: 3,952,399 (GRCm39) F697I probably damaging Het
Dnpep T A 1: 75,292,022 (GRCm39) K199N probably benign Het
Ear2 G T 14: 44,340,660 (GRCm39) C106F probably damaging Het
Gnl2 A T 4: 124,946,353 (GRCm39) I525F possibly damaging Het
Hsph1 C A 5: 149,542,441 (GRCm39) K692N probably damaging Het
Itga6 T A 2: 71,664,116 (GRCm39) C489S possibly damaging Het
Kdm2b C T 5: 123,018,254 (GRCm39) C1007Y probably damaging Het
Ly6m T C 15: 74,751,813 (GRCm39) T74A probably benign Het
Mast4 T C 13: 103,042,185 (GRCm39) S22G possibly damaging Het
Ms4a12 A G 19: 11,192,376 (GRCm39) *264Q probably null Het
Myh8 G T 11: 67,189,405 (GRCm39) A1194S probably benign Het
Ncapd3 T A 9: 26,955,805 (GRCm39) N131K probably damaging Het
Or10g6 T C 9: 39,933,824 (GRCm39) I45T probably damaging Het
Or5w13 A T 2: 87,523,872 (GRCm39) M118K probably damaging Het
Rnf130 T A 11: 49,986,617 (GRCm39) C320* probably null Het
Rnf5 A G 17: 34,821,101 (GRCm39) V77A possibly damaging Het
Sh3pxd2a G T 19: 47,258,366 (GRCm39) P418T probably damaging Het
Shank3 G T 15: 89,387,616 (GRCm39) V262F possibly damaging Het
Six5 T A 7: 18,830,696 (GRCm39) V441E probably damaging Het
Tbc1d9b T A 11: 50,037,155 (GRCm39) I268N probably benign Het
Terb1 G A 8: 105,212,078 (GRCm39) T301I possibly damaging Het
Tnxb A C 17: 34,936,891 (GRCm39) D2820A probably damaging Het
Tram2 C T 1: 21,074,457 (GRCm39) E242K possibly damaging Het
Trps1 T C 15: 50,694,793 (GRCm39) K210E probably damaging Het
Tulp2 T A 7: 45,168,012 (GRCm39) D141E probably benign Het
Umodl1 C T 17: 31,205,121 (GRCm39) T572I probably benign Het
Upf2 C A 2: 5,984,588 (GRCm39) A501E unknown Het
Vmn2r102 A G 17: 19,901,483 (GRCm39) T537A possibly damaging Het
Wdr11 T A 7: 129,208,242 (GRCm39) D332E possibly damaging Het
Wdr38 A G 2: 38,890,723 (GRCm39) N199S probably damaging Het
Zfp672 T A 11: 58,207,758 (GRCm39) I188F possibly damaging Het
Other mutations in Rbm14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Rbm14 APN 19 4,852,576 (GRCm39) intron probably benign
IGL00430:Rbm14 APN 19 4,861,454 (GRCm39) missense probably damaging 1.00
IGL02226:Rbm14 APN 19 4,851,745 (GRCm39) unclassified probably benign
R1732:Rbm14 UTSW 19 4,853,495 (GRCm39) missense probably benign 0.03
R1840:Rbm14 UTSW 19 4,851,823 (GRCm39) intron probably benign
R2044:Rbm14 UTSW 19 4,853,905 (GRCm39) missense possibly damaging 0.90
R2362:Rbm14 UTSW 19 4,851,735 (GRCm39) unclassified probably benign
R4656:Rbm14 UTSW 19 4,861,463 (GRCm39) missense probably damaging 1.00
R4771:Rbm14 UTSW 19 4,852,671 (GRCm39) intron probably benign
R5081:Rbm14 UTSW 19 4,852,823 (GRCm39) missense probably benign 0.23
R5729:Rbm14 UTSW 19 4,852,577 (GRCm39) intron probably benign
R6905:Rbm14 UTSW 19 4,853,264 (GRCm39) intron probably benign
R9498:Rbm14 UTSW 19 4,853,495 (GRCm39) missense probably benign 0.03
R9568:Rbm14 UTSW 19 4,861,464 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCAGCTGGGTCTGAACAACTG -3'
(R):5'- TGCTTCCTATGGTAACCAGCC -3'

Sequencing Primer
(F):5'- TCTGAACAACTGGTTGAGCC -3'
(R):5'- ATGGTAACCAGCCATCCTCTTATGG -3'
Posted On 2018-05-24