Incidental Mutation 'IGL02226:Rbm14'
| ID |
285355 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rbm14
|
| Ensembl Gene |
ENSMUSG00000006456 |
| Gene Name |
RNA binding motif protein 14 |
| Synonyms |
1300007E16Rik, PSP2, p16 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02226
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
4850597-4861662 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 4851745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006625]
[ENSMUST00000113793]
[ENSMUST00000172000]
[ENSMUST00000178353]
[ENSMUST00000179909]
[ENSMUST00000180008]
|
| AlphaFold |
Q8C2Q3 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000006625
AA Change: S631P
|
| SMART Domains |
Protein: ENSMUSP00000006625
Gene: ENSMUSG00000006456
AA Change: S631P
| 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: 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 |
|
| 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 |
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
T |
C |
12: 53,057,250 (GRCm39) |
|
probably benign |
Het |
| Ankrd11 |
G |
A |
8: 123,618,984 (GRCm39) |
R1602W |
probably damaging |
Het |
| Arhgap23 |
G |
T |
11: 97,342,426 (GRCm39) |
R236L |
probably benign |
Het |
| Aurkaip1 |
T |
C |
4: 155,917,028 (GRCm39) |
V92A |
probably benign |
Het |
| Cdh20 |
A |
T |
1: 104,881,816 (GRCm39) |
|
probably benign |
Het |
| Ctnnd2 |
A |
G |
15: 30,847,482 (GRCm39) |
N691S |
probably benign |
Het |
| Ddx24 |
A |
C |
12: 103,390,717 (GRCm39) |
D2E |
possibly damaging |
Het |
| Dennd5b |
A |
G |
6: 148,934,799 (GRCm39) |
S691P |
probably benign |
Het |
| Dhrs3 |
C |
T |
4: 144,650,519 (GRCm39) |
R248W |
possibly damaging |
Het |
| Dlgap1 |
T |
C |
17: 70,823,029 (GRCm39) |
S5P |
probably damaging |
Het |
| Dnai4 |
A |
T |
4: 102,947,595 (GRCm39) |
I227K |
probably benign |
Het |
| Ep300 |
A |
T |
15: 81,497,613 (GRCm39) |
M510L |
unknown |
Het |
| Fbxo25 |
T |
C |
8: 13,973,922 (GRCm39) |
|
probably benign |
Het |
| Gm3252 |
A |
T |
14: 4,743,741 (GRCm38) |
K193M |
possibly damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,267,162 (GRCm39) |
|
probably null |
Het |
| Helz2 |
T |
C |
2: 180,873,483 (GRCm39) |
D2337G |
probably damaging |
Het |
| Idh1 |
A |
T |
1: 65,201,081 (GRCm39) |
M290K |
probably damaging |
Het |
| Layn |
T |
C |
9: 50,985,317 (GRCm39) |
S80G |
probably damaging |
Het |
| Ltbp4 |
C |
T |
7: 27,006,359 (GRCm39) |
E1440K |
probably damaging |
Het |
| Mri1 |
T |
C |
8: 84,982,924 (GRCm39) |
T166A |
probably damaging |
Het |
| Myod1 |
C |
T |
7: 46,027,730 (GRCm39) |
T290I |
probably benign |
Het |
| Nfat5 |
T |
A |
8: 108,078,154 (GRCm39) |
L431* |
probably null |
Het |
| Nle1 |
A |
T |
11: 82,795,133 (GRCm39) |
Y299* |
probably null |
Het |
| Nlrp4c |
T |
A |
7: 6,069,828 (GRCm39) |
F576L |
possibly damaging |
Het |
| Nudt21 |
G |
T |
8: 94,746,329 (GRCm39) |
S123* |
probably null |
Het |
| Plekhg1 |
A |
C |
10: 3,895,916 (GRCm39) |
D436A |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,326,732 (GRCm39) |
V222A |
probably damaging |
Het |
| Ppp4r3c1 |
A |
C |
X: 88,975,518 (GRCm39) |
D226E |
probably damaging |
Het |
| Scfd1 |
T |
A |
12: 51,436,164 (GRCm39) |
|
probably benign |
Het |
| Slc34a2 |
A |
G |
5: 53,225,073 (GRCm39) |
T405A |
probably benign |
Het |
| Slc39a9 |
T |
A |
12: 80,691,695 (GRCm39) |
M14K |
probably damaging |
Het |
| Slc39a9 |
G |
A |
12: 80,691,696 (GRCm39) |
M14I |
probably damaging |
Het |
| Spast |
G |
A |
17: 74,679,334 (GRCm39) |
|
probably benign |
Het |
| Spen |
T |
C |
4: 141,205,457 (GRCm39) |
R1057G |
unknown |
Het |
| Sptbn4 |
T |
G |
7: 27,065,132 (GRCm39) |
T2056P |
probably damaging |
Het |
| Ssrp1 |
T |
C |
2: 84,870,705 (GRCm39) |
L148P |
probably damaging |
Het |
| Tdrd6 |
T |
A |
17: 43,938,093 (GRCm39) |
H985L |
probably damaging |
Het |
| Tmem44 |
A |
G |
16: 30,358,199 (GRCm39) |
|
probably benign |
Het |
| Vmn2r116 |
T |
A |
17: 23,603,808 (GRCm39) |
L11Q |
probably null |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation