Incidental Mutation 'R2362:Rbm14'
| ID |
247198 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm14
|
| Ensembl Gene |
ENSMUSG00000006456 |
| Gene Name |
RNA binding motif protein 14 |
| Synonyms |
1300007E16Rik, PSP2, p16 |
| MMRRC Submission |
040343-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2362 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
4850597-4861662 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 4851735 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: D634G
|
| SMART Domains |
Protein: ENSMUSP00000006625
Gene: ENSMUSG00000006456
AA Change: D634G
| 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: ENSMUST00000113793
|
| SMART Domains |
Protein: ENSMUSP00000109424
Gene: ENSMUSG00000006456
| 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 |
|
| Meta Mutation Damage Score |
0.0758 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
100% (35/35) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
A |
T |
6: 132,604,442 (GRCm39) |
M1K |
probably null |
Het |
| Aadat |
A |
G |
8: 60,985,332 (GRCm39) |
|
probably benign |
Het |
| Acsm5 |
T |
C |
7: 119,127,649 (GRCm39) |
|
probably benign |
Het |
| Avl9 |
A |
T |
6: 56,713,555 (GRCm39) |
N271I |
probably benign |
Het |
| Ccdc30 |
T |
A |
4: 119,181,253 (GRCm39) |
N636I |
probably damaging |
Het |
| Cdr2 |
T |
G |
7: 120,569,554 (GRCm39) |
I62L |
possibly damaging |
Het |
| Ceacam23 |
T |
G |
7: 17,636,398 (GRCm39) |
|
noncoding transcript |
Het |
| Clk3 |
T |
C |
9: 57,661,902 (GRCm39) |
I382V |
possibly damaging |
Het |
| Ctsr |
T |
A |
13: 61,310,610 (GRCm39) |
E45V |
probably damaging |
Het |
| Cyp2b19 |
A |
G |
7: 26,463,802 (GRCm39) |
Y318C |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,878,745 (GRCm39) |
N578S |
probably damaging |
Het |
| Dlg5 |
A |
T |
14: 24,208,755 (GRCm39) |
M817K |
probably benign |
Het |
| Dtx4 |
A |
G |
19: 12,469,899 (GRCm39) |
V76A |
probably damaging |
Het |
| Eps15 |
T |
C |
4: 109,218,427 (GRCm39) |
V430A |
probably benign |
Het |
| Fhip2b |
A |
G |
14: 70,823,805 (GRCm39) |
Y568H |
probably benign |
Het |
| Fxyd5 |
T |
C |
7: 30,735,896 (GRCm39) |
N104S |
probably benign |
Het |
| Ift122 |
A |
G |
6: 115,861,311 (GRCm39) |
D193G |
probably damaging |
Het |
| Lrrcc1 |
A |
G |
3: 14,628,084 (GRCm39) |
E542G |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,411,393 (GRCm39) |
|
probably benign |
Het |
| Ndst3 |
T |
A |
3: 123,346,327 (GRCm39) |
Y234F |
possibly damaging |
Het |
| Or5b120 |
A |
T |
19: 13,479,872 (GRCm39) |
H55L |
probably damaging |
Het |
| Pes1 |
T |
C |
11: 3,927,123 (GRCm39) |
F429S |
probably damaging |
Het |
| Polr3e |
C |
G |
7: 120,541,787 (GRCm39) |
D623E |
probably damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,585,098 (GRCm39) |
Y1494H |
probably damaging |
Het |
| Rnf103 |
A |
G |
6: 71,487,001 (GRCm39) |
D544G |
probably benign |
Het |
| Slc10a7 |
A |
G |
8: 79,236,261 (GRCm39) |
I20V |
probably damaging |
Het |
| Sort1 |
C |
T |
3: 108,253,981 (GRCm39) |
T549I |
possibly damaging |
Het |
| Stambpl1 |
G |
A |
19: 34,213,754 (GRCm39) |
V328I |
probably benign |
Het |
| Thbd |
A |
G |
2: 148,248,284 (GRCm39) |
L528P |
probably damaging |
Het |
| Wbp11 |
A |
T |
6: 136,801,330 (GRCm39) |
M63K |
probably damaging |
Het |
| Wdr11 |
T |
A |
7: 129,236,560 (GRCm39) |
I1178N |
probably benign |
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 |
|
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 |
|
|
R6432:Rbm14
|
UTSW |
19 |
4,853,191 (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'- TGATAACCTGGGTCTGCACC -3'
(R):5'- ACCAACTGTTTGAGACAAATCTGG -3'
Sequencing Primer
(F):5'- GGTCTGCACCCTACCCTAC -3'
(R):5'- TTGAGACAAATCTGGTATACCCTCC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation