Incidental Mutation 'R4008:Rbm34'
| ID |
311569 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm34
|
| Ensembl Gene |
ENSMUSG00000033931 |
| Gene Name |
RNA binding motif protein 34 |
| Synonyms |
4930547K05Rik, D8Ertd233e |
| MMRRC Submission |
040946-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4008 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
127673922-127697799 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127676037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 426
(K426R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045994]
[ENSMUST00000179857]
[ENSMUST00000212618]
[ENSMUST00000212771]
|
| AlphaFold |
Q8C5L7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045994
AA Change: K426R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000048450
Gene: ENSMUSG00000033931
AA Change: K426R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
152 |
N/A |
INTRINSIC |
|
RRM
|
190 |
280 |
5.33e-10 |
SMART |
|
RRM
|
292 |
364 |
5.2e-22 |
SMART |
|
internal_repeat_2
|
394 |
404 |
6.88e-5 |
PROSPERO |
|
internal_repeat_2
|
401 |
411 |
6.88e-5 |
PROSPERO |
|
low complexity region
|
423 |
442 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083703
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179857
|
| SMART Domains |
Protein: ENSMUSP00000136493
Gene: ENSMUSG00000093904
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAS20
|
10 |
124 |
3.8e-50 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000212618
AA Change: K406R
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212771
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
97% (32/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RNA-binding motif family of RNA recognition motif proteins. The encoded protein contains an RNA-binding domain made up of two RNA recognition motif subdomains referred to as RNA recognition motif-1 and RNA recognition motif-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
A |
2: 155,399,548 (GRCm39) |
L529Q |
probably damaging |
Het |
| Adsl |
T |
C |
15: 80,850,357 (GRCm39) |
S359P |
probably benign |
Het |
| Batf2 |
G |
A |
19: 6,221,378 (GRCm39) |
E63K |
probably damaging |
Het |
| Chd1l |
A |
T |
3: 97,477,718 (GRCm39) |
M679K |
probably benign |
Het |
| Clvs2 |
G |
A |
10: 33,419,458 (GRCm39) |
H199Y |
probably damaging |
Het |
| F830045P16Rik |
A |
T |
2: 129,305,467 (GRCm39) |
N302K |
probably damaging |
Het |
| H2-K2 |
G |
A |
17: 34,218,525 (GRCm39) |
|
probably benign |
Het |
| Ifit2 |
G |
T |
19: 34,551,445 (GRCm39) |
M328I |
probably benign |
Het |
| Larp7 |
T |
C |
3: 127,334,519 (GRCm39) |
D490G |
probably benign |
Het |
| Map9 |
T |
C |
3: 82,266,390 (GRCm39) |
Y12H |
probably damaging |
Het |
| Mn1 |
G |
T |
5: 111,568,035 (GRCm39) |
E668D |
probably benign |
Het |
| Mrps18c |
T |
C |
5: 100,950,982 (GRCm39) |
|
probably benign |
Het |
| Npdc1 |
T |
A |
2: 25,298,992 (GRCm39) |
Y237* |
probably null |
Het |
| Oprm1 |
A |
G |
10: 6,782,520 (GRCm39) |
M388V |
probably benign |
Het |
| Or10ag57 |
A |
T |
2: 87,218,924 (GRCm39) |
I292F |
possibly damaging |
Het |
| Or4n5 |
A |
G |
14: 50,132,464 (GRCm39) |
L265P |
probably benign |
Het |
| Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
| Pkn2 |
T |
C |
3: 142,516,219 (GRCm39) |
D568G |
possibly damaging |
Het |
| Pwp1 |
A |
G |
10: 85,717,898 (GRCm39) |
T279A |
possibly damaging |
Het |
| Rabep2 |
C |
A |
7: 126,044,546 (GRCm39) |
D547E |
probably damaging |
Het |
| Rgs14 |
T |
G |
13: 55,517,726 (GRCm39) |
L8V |
probably damaging |
Het |
| Ripor2 |
A |
G |
13: 24,880,521 (GRCm39) |
H407R |
probably benign |
Het |
| Serpina3a |
A |
T |
12: 104,084,902 (GRCm39) |
D99V |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc39a12 |
T |
C |
2: 14,456,928 (GRCm39) |
F603L |
probably damaging |
Het |
| Smg5 |
T |
C |
3: 88,256,465 (GRCm39) |
S244P |
probably benign |
Het |
| St3gal3 |
T |
C |
4: 117,797,637 (GRCm39) |
I252V |
probably benign |
Het |
| Tars3 |
T |
A |
7: 65,327,876 (GRCm39) |
D528E |
probably damaging |
Het |
| Try10 |
A |
G |
6: 41,333,608 (GRCm39) |
T118A |
probably benign |
Het |
| Tshr |
C |
T |
12: 91,504,268 (GRCm39) |
S402L |
probably benign |
Het |
|
| Other mutations in Rbm34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00516:Rbm34
|
APN |
8 |
127,696,736 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02505:Rbm34
|
APN |
8 |
127,676,071 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03166:Rbm34
|
APN |
8 |
127,697,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0081:Rbm34
|
UTSW |
8 |
127,676,234 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1186:Rbm34
|
UTSW |
8 |
127,692,197 (GRCm39) |
nonsense |
probably null |
|
|
R1257:Rbm34
|
UTSW |
8 |
127,697,643 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R1867:Rbm34
|
UTSW |
8 |
127,697,631 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1868:Rbm34
|
UTSW |
8 |
127,697,631 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4395:Rbm34
|
UTSW |
8 |
127,676,131 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4823:Rbm34
|
UTSW |
8 |
127,697,655 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4903:Rbm34
|
UTSW |
8 |
127,678,087 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4964:Rbm34
|
UTSW |
8 |
127,678,087 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4966:Rbm34
|
UTSW |
8 |
127,678,087 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5605:Rbm34
|
UTSW |
8 |
127,676,169 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5734:Rbm34
|
UTSW |
8 |
127,696,880 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6515:Rbm34
|
UTSW |
8 |
127,688,682 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8263:Rbm34
|
UTSW |
8 |
127,692,139 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8544:Rbm34
|
UTSW |
8 |
127,696,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8915:Rbm34
|
UTSW |
8 |
127,679,908 (GRCm39) |
splice site |
probably benign |
|
|
R8957:Rbm34
|
UTSW |
8 |
127,692,208 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9005:Rbm34
|
UTSW |
8 |
127,686,332 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9131:Rbm34
|
UTSW |
8 |
127,679,928 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9635:Rbm34
|
UTSW |
8 |
127,696,872 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTGACCATTTGAACACTTATCC -3'
(R):5'- ACTGAGAGTCATGCGTTCTG -3'
Sequencing Primer
(F):5'- TTCTAAGAACAAGGCTTCAAAGAAG -3'
(R):5'- GAGAGTCATGCGTTCTGTTAATAAAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation