Incidental Mutation 'IGL00430:Rbm14'
| ID |
13779 |
| 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 # |
IGL00430
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
4850597-4861662 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4861454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 28
(V28A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006625]
[ENSMUST00000113793]
[ENSMUST00000172000]
[ENSMUST00000178353]
[ENSMUST00000179909]
[ENSMUST00000180008]
|
| AlphaFold |
Q8C2Q3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006625
AA Change: V28A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000006625
Gene: ENSMUSG00000006456
AA Change: V28A
| 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 damaging
Transcript: ENSMUST00000113793
AA Change: V28A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109424
Gene: ENSMUSG00000006456
AA Change: V28A
| 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 damaging
Transcript: ENSMUST00000172000
AA Change: V28A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128810
Gene: ENSMUSG00000096370
AA Change: V28A
| 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 |
probably damaging
Transcript: ENSMUST00000178353
AA Change: V28A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136599
Gene: ENSMUSG00000096370
AA Change: V28A
| 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: ENSMUST00000178727
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179909
AA Change: V28A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136623
Gene: ENSMUSG00000096370
AA Change: V28A
| 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 damaging
Transcript: ENSMUST00000180008
AA Change: V28A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137466
Gene: ENSMUSG00000006456
AA Change: V28A
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
A |
19: 43,772,641 (GRCm39) |
S17N |
probably benign |
Het |
| Atp2a1 |
C |
T |
7: 126,046,388 (GRCm39) |
W72* |
probably null |
Het |
| Baz2b |
C |
A |
2: 59,743,139 (GRCm39) |
A1611S |
probably benign |
Het |
| Cep290 |
A |
T |
10: 100,344,586 (GRCm39) |
I475L |
probably benign |
Het |
| Cpsf4l |
C |
T |
11: 113,600,044 (GRCm39) |
|
probably benign |
Het |
| Crispld2 |
A |
T |
8: 120,760,299 (GRCm39) |
R408S |
probably damaging |
Het |
| Cyp3a25 |
A |
T |
5: 145,930,170 (GRCm39) |
M145K |
probably damaging |
Het |
| Dexi |
A |
T |
16: 10,360,309 (GRCm39) |
D82E |
probably benign |
Het |
| Epyc |
A |
T |
10: 97,517,009 (GRCm39) |
K282N |
probably benign |
Het |
| Ercc6l2 |
G |
T |
13: 64,006,133 (GRCm39) |
V588F |
probably damaging |
Het |
| Galnt14 |
C |
T |
17: 73,801,227 (GRCm39) |
V532I |
probably damaging |
Het |
| Grk1 |
C |
A |
8: 13,463,128 (GRCm39) |
Y383* |
probably null |
Het |
| Gtpbp1 |
G |
T |
15: 79,603,337 (GRCm39) |
G609W |
possibly damaging |
Het |
| Hadha |
C |
T |
5: 30,325,145 (GRCm39) |
V682M |
possibly damaging |
Het |
| Igdcc3 |
A |
C |
9: 65,089,301 (GRCm39) |
D499A |
probably damaging |
Het |
| Kcna10 |
T |
G |
3: 107,102,044 (GRCm39) |
V225G |
probably damaging |
Het |
| Kcnh4 |
T |
C |
11: 100,648,480 (GRCm39) |
T75A |
possibly damaging |
Het |
| Lama4 |
A |
G |
10: 38,921,700 (GRCm39) |
E407G |
possibly damaging |
Het |
| Mrpl13 |
T |
A |
15: 55,403,597 (GRCm39) |
K105N |
probably damaging |
Het |
| Pcdhb2 |
A |
T |
18: 37,429,516 (GRCm39) |
|
probably null |
Het |
| Pck2 |
C |
T |
14: 55,781,401 (GRCm39) |
A209V |
probably benign |
Het |
| Plce1 |
A |
G |
19: 38,713,461 (GRCm39) |
E1243G |
probably damaging |
Het |
| Plekhh2 |
A |
T |
17: 84,829,203 (GRCm39) |
M25L |
probably benign |
Het |
| Rasef |
G |
A |
4: 73,689,662 (GRCm39) |
Q117* |
probably null |
Het |
| Rcan2 |
A |
G |
17: 44,147,275 (GRCm39) |
T38A |
probably benign |
Het |
| Rin1 |
A |
G |
19: 5,101,404 (GRCm39) |
N96S |
probably benign |
Het |
| Rrp12 |
A |
G |
19: 41,865,773 (GRCm39) |
|
probably null |
Het |
| Slco1a6 |
A |
T |
6: 142,047,377 (GRCm39) |
C404* |
probably null |
Het |
| St6galnac3 |
T |
C |
3: 153,215,040 (GRCm39) |
N38S |
probably benign |
Het |
| Top2b |
T |
A |
14: 16,422,692 (GRCm38) |
S1376R |
probably benign |
Het |
| Trip11 |
T |
C |
12: 101,852,406 (GRCm39) |
I553V |
probably benign |
Het |
| Trip12 |
T |
G |
1: 84,741,582 (GRCm39) |
H559P |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,263,841 (GRCm39) |
L1063* |
probably null |
Het |
| Zmym6 |
T |
A |
4: 126,995,742 (GRCm39) |
C269* |
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 |
|
|
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 |
|
|
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 |
2012-12-06 |
Incidental Mutation