Incidental Mutation 'R3861:Ddx50'
| ID |
276358 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx50
|
| Ensembl Gene |
ENSMUSG00000020076 |
| Gene Name |
DExD box helicase 50 |
| Synonyms |
RH-II/Gubeta, GU2, 4933429B04Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 50, 8430408E17Rik |
| MMRRC Submission |
040788-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
R3861 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
62451674-62486997 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 62478725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 154
(V154L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020270
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020270]
|
| AlphaFold |
Q99MJ9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020270
AA Change: V154L
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020270
Gene: ENSMUSG00000020076
AA Change: V154L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
65 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
66 |
104 |
3e-8 |
BLAST |
|
low complexity region
|
105 |
122 |
N/A |
INTRINSIC |
|
DEXDc
|
153 |
354 |
1.97e-52 |
SMART |
|
HELICc
|
398 |
480 |
1.8e-28 |
SMART |
|
low complexity region
|
558 |
564 |
N/A |
INTRINSIC |
|
Pfam:GUCT
|
568 |
662 |
3.7e-31 |
PFAM |
|
low complexity region
|
674 |
728 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218158
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218372
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220370
|
| Meta Mutation Damage Score |
0.2981 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (55/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box enzyme that may be involved in ribosomal RNA synthesis or processing. This gene and DDX21, also called RH-II/GuA, have similar genomic structures and are in tandem orientation on chromosome 10, suggesting that the two genes arose by gene duplication in evolution. This gene has pseudogenes on chromosomes 2, 3 and 4. Alternative splicing of this gene generates multiple transcript variants, but the full length nature of all the other variants but one has not been defined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730507C01Rik |
G |
A |
12: 18,583,411 (GRCm39) |
S157N |
probably benign |
Het |
| A830018L16Rik |
T |
C |
1: 11,658,778 (GRCm39) |
|
probably benign |
Het |
| Akip1 |
C |
T |
7: 109,306,613 (GRCm39) |
|
probably benign |
Het |
| Anxa5 |
T |
C |
3: 36,504,807 (GRCm39) |
T252A |
probably benign |
Het |
| Arhgef10l |
A |
G |
4: 140,242,798 (GRCm39) |
F1072L |
possibly damaging |
Het |
| Armc1 |
C |
T |
3: 19,189,196 (GRCm39) |
R186Q |
probably damaging |
Het |
| Atxn2l |
A |
T |
7: 126,101,123 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
A |
G |
6: 23,355,860 (GRCm39) |
I849T |
probably damaging |
Het |
| Ccdc28a |
T |
A |
10: 18,100,743 (GRCm39) |
Q28L |
probably damaging |
Het |
| Cdh4 |
T |
A |
2: 179,515,890 (GRCm39) |
V356D |
probably damaging |
Het |
| Chd8 |
T |
A |
14: 52,474,578 (GRCm39) |
Q151L |
probably benign |
Het |
| Chgb |
T |
A |
2: 132,635,064 (GRCm39) |
H335Q |
probably damaging |
Het |
| Col19a1 |
G |
A |
1: 24,365,098 (GRCm39) |
P506S |
probably damaging |
Het |
| Col5a2 |
T |
C |
1: 45,419,397 (GRCm39) |
T1228A |
probably damaging |
Het |
| Cpxm2 |
A |
G |
7: 131,656,648 (GRCm39) |
V538A |
probably benign |
Het |
| Cramp1 |
A |
T |
17: 25,216,588 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
T |
C |
6: 18,423,832 (GRCm39) |
R831G |
probably benign |
Het |
| Cyp4f17 |
A |
G |
17: 32,747,078 (GRCm39) |
D436G |
probably damaging |
Het |
| Dcaf6 |
A |
T |
1: 165,256,838 (GRCm39) |
N48K |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,943,820 (GRCm39) |
|
probably benign |
Het |
| Dnm3 |
T |
A |
1: 162,138,974 (GRCm39) |
I395L |
possibly damaging |
Het |
| Elp2 |
C |
T |
18: 24,739,977 (GRCm39) |
R68C |
probably benign |
Het |
| Frg1 |
A |
T |
8: 41,860,820 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
G |
T |
2: 82,815,120 (GRCm39) |
D3618Y |
probably damaging |
Het |
| Gabra2 |
T |
C |
5: 71,130,886 (GRCm39) |
D314G |
probably damaging |
Het |
| Gramd1a |
A |
C |
7: 30,835,365 (GRCm39) |
D407E |
possibly damaging |
Het |
| Grm5 |
T |
A |
7: 87,779,202 (GRCm39) |
S881T |
possibly damaging |
Het |
| Ikbkb |
T |
A |
8: 23,168,852 (GRCm39) |
I216F |
possibly damaging |
Het |
| Kif3a |
T |
C |
11: 53,488,805 (GRCm39) |
V634A |
probably benign |
Het |
| Ltbp1 |
A |
T |
17: 75,666,333 (GRCm39) |
Y1342F |
possibly damaging |
Het |
| Mia2 |
G |
T |
12: 59,155,807 (GRCm39) |
V508L |
probably benign |
Het |
| Mtus2 |
C |
T |
5: 148,250,223 (GRCm39) |
T155M |
probably damaging |
Het |
| Napepld |
A |
T |
5: 21,888,287 (GRCm39) |
V54E |
probably benign |
Het |
| Nlrc4 |
T |
C |
17: 74,752,616 (GRCm39) |
E589G |
probably benign |
Het |
| Nphp3 |
G |
T |
9: 103,916,525 (GRCm39) |
|
probably benign |
Het |
| Nr2f1 |
T |
A |
13: 78,343,794 (GRCm39) |
R10* |
probably null |
Het |
| Nsfl1c |
C |
A |
2: 151,352,824 (GRCm39) |
|
probably null |
Het |
| Or14a258 |
A |
G |
7: 86,035,331 (GRCm39) |
V179A |
possibly damaging |
Het |
| Pcdhgc3 |
A |
G |
18: 37,941,581 (GRCm39) |
T661A |
probably damaging |
Het |
| Pdzrn3 |
A |
G |
6: 101,149,332 (GRCm39) |
V332A |
possibly damaging |
Het |
| Pip4p2 |
A |
G |
4: 14,902,506 (GRCm39) |
N169S |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,271,151 (GRCm39) |
C3134Y |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,036,894 (GRCm39) |
V1131A |
probably damaging |
Het |
| Rccd1 |
T |
C |
7: 79,970,116 (GRCm39) |
E167G |
probably benign |
Het |
| Ror1 |
T |
C |
4: 100,265,120 (GRCm39) |
I198T |
possibly damaging |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Scly |
C |
T |
1: 91,230,573 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
T |
C |
11: 106,216,950 (GRCm39) |
|
probably benign |
Het |
| Sh3rf2 |
T |
C |
18: 42,286,384 (GRCm39) |
S594P |
probably damaging |
Het |
| Slc19a1 |
G |
A |
10: 76,877,809 (GRCm39) |
V115M |
possibly damaging |
Het |
| Slc26a6 |
A |
T |
9: 108,731,395 (GRCm39) |
|
probably benign |
Het |
| Smg7 |
C |
T |
1: 152,728,349 (GRCm39) |
R439K |
probably null |
Het |
| Spata31e3 |
T |
C |
13: 50,400,887 (GRCm39) |
K480E |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,013,253 (GRCm39) |
R2815G |
probably damaging |
Het |
| Trim75 |
G |
A |
8: 65,435,479 (GRCm39) |
R324C |
probably damaging |
Het |
| Ucp3 |
T |
C |
7: 100,129,458 (GRCm39) |
S98P |
probably benign |
Het |
| Zscan29 |
G |
C |
2: 120,991,212 (GRCm39) |
R859G |
probably benign |
Het |
|
| Other mutations in Ddx50 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01517:Ddx50
|
APN |
10 |
62,482,911 (GRCm39) |
missense |
probably benign |
|
|
IGL01955:Ddx50
|
APN |
10 |
62,482,962 (GRCm39) |
missense |
probably benign |
|
|
IGL02677:Ddx50
|
APN |
10 |
62,452,072 (GRCm39) |
missense |
unknown |
|
|
IGL03169:Ddx50
|
APN |
10 |
62,457,166 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03372:Ddx50
|
APN |
10 |
62,479,109 (GRCm39) |
missense |
probably benign |
0.11 |
|
K7371:Ddx50
|
UTSW |
10 |
62,457,289 (GRCm39) |
start codon destroyed |
probably null |
|
|
R0123:Ddx50
|
UTSW |
10 |
62,457,156 (GRCm39) |
splice site |
probably benign |
|
|
R0134:Ddx50
|
UTSW |
10 |
62,457,156 (GRCm39) |
splice site |
probably benign |
|
|
R0318:Ddx50
|
UTSW |
10 |
62,478,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0731:Ddx50
|
UTSW |
10 |
62,452,028 (GRCm39) |
missense |
unknown |
|
|
R1244:Ddx50
|
UTSW |
10 |
62,478,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1429:Ddx50
|
UTSW |
10 |
62,482,847 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R2005:Ddx50
|
UTSW |
10 |
62,476,243 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2924:Ddx50
|
UTSW |
10 |
62,463,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3803:Ddx50
|
UTSW |
10 |
62,475,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4169:Ddx50
|
UTSW |
10 |
62,476,549 (GRCm39) |
nonsense |
probably null |
|
|
R4917:Ddx50
|
UTSW |
10 |
62,463,450 (GRCm39) |
nonsense |
probably null |
|
|
R4918:Ddx50
|
UTSW |
10 |
62,463,450 (GRCm39) |
nonsense |
probably null |
|
|
R4951:Ddx50
|
UTSW |
10 |
62,469,899 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4962:Ddx50
|
UTSW |
10 |
62,478,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5102:Ddx50
|
UTSW |
10 |
62,476,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5403:Ddx50
|
UTSW |
10 |
62,482,809 (GRCm39) |
missense |
probably benign |
|
|
R5648:Ddx50
|
UTSW |
10 |
62,452,049 (GRCm39) |
missense |
unknown |
|
|
R5899:Ddx50
|
UTSW |
10 |
62,476,596 (GRCm39) |
nonsense |
probably null |
|
|
R6127:Ddx50
|
UTSW |
10 |
62,457,342 (GRCm39) |
splice site |
probably null |
|
|
R6244:Ddx50
|
UTSW |
10 |
62,457,345 (GRCm39) |
splice site |
probably null |
|
|
R8098:Ddx50
|
UTSW |
10 |
62,460,922 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8163:Ddx50
|
UTSW |
10 |
62,475,678 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8257:Ddx50
|
UTSW |
10 |
62,452,299 (GRCm39) |
splice site |
probably benign |
|
|
R8272:Ddx50
|
UTSW |
10 |
62,457,256 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8356:Ddx50
|
UTSW |
10 |
62,457,287 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8537:Ddx50
|
UTSW |
10 |
62,478,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8540:Ddx50
|
UTSW |
10 |
62,476,569 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8759:Ddx50
|
UTSW |
10 |
62,452,021 (GRCm39) |
missense |
unknown |
|
|
R8995:Ddx50
|
UTSW |
10 |
62,469,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9001:Ddx50
|
UTSW |
10 |
62,475,728 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9691:Ddx50
|
UTSW |
10 |
62,476,524 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9799:Ddx50
|
UTSW |
10 |
62,469,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Ddx50
|
UTSW |
10 |
62,460,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAACCGTTACCTTTGGTGAGCG -3'
(R):5'- GCTGACTTTATACAACTTTGATGCC -3'
Sequencing Primer
(F):5'- CCGGGCTTGAGCAATTAA -3'
(R):5'- ATACAACTTTGATGCCTTTTCTGAC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation