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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |