Incidental Mutation 'IGL01452:Ddx19b'
| ID |
84672 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ddx19b
|
| Ensembl Gene |
ENSMUSG00000033658 |
| Gene Name |
DEAD box helicase 19b |
| Synonyms |
4921519L13Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 19b, 2810457M08Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01452
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
111729820-111758383 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111747620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 105
(S105P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040241]
[ENSMUST00000065784]
|
| AlphaFold |
Q8BZY3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040241
AA Change: S90P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000038551
Gene: ENSMUSG00000033658
AA Change: S90P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DEXDc
|
5 |
44 |
1e-12 |
BLAST |
|
low complexity region
|
45 |
55 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
57 |
99 |
4e-11 |
BLAST |
|
DEXDc
|
111 |
310 |
2.94e-42 |
SMART |
|
HELICc
|
347 |
434 |
2.59e-29 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065784
AA Change: S105P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000066806
Gene: ENSMUSG00000033658
AA Change: S105P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
70 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
72 |
114 |
5e-11 |
BLAST |
|
DEXDc
|
126 |
325 |
2.94e-42 |
SMART |
|
HELICc
|
362 |
449 |
2.59e-29 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175346
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which exhibits RNA-dependent ATPase and ATP-dependent RNA-unwinding activities. This protein is recruited to the cytoplasmic fibrils of the nuclear pore complex, where it participates in the export of mRNA from the nucleus. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bltp1 |
T |
A |
3: 37,050,457 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,733,515 (GRCm39) |
N344D |
probably damaging |
Het |
| Cd300ld2 |
G |
A |
11: 114,903,428 (GRCm39) |
|
probably benign |
Het |
| Dpf3 |
C |
A |
12: 83,316,263 (GRCm39) |
R336L |
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,836,181 (GRCm39) |
S720P |
probably damaging |
Het |
| Foxj3 |
T |
C |
4: 119,478,825 (GRCm39) |
L427P |
unknown |
Het |
| Hdac11 |
A |
G |
6: 91,144,843 (GRCm39) |
D157G |
probably damaging |
Het |
| Klk13 |
G |
T |
7: 43,376,060 (GRCm39) |
R245L |
possibly damaging |
Het |
| Med25 |
C |
T |
7: 44,532,255 (GRCm39) |
M367I |
possibly damaging |
Het |
| Mindy3 |
G |
A |
2: 12,360,083 (GRCm39) |
|
probably benign |
Het |
| Mtf2 |
C |
T |
5: 108,228,809 (GRCm39) |
P42S |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,371,292 (GRCm39) |
L3269F |
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Pcnx2 |
A |
G |
8: 126,564,771 (GRCm39) |
S1041P |
probably damaging |
Het |
| Pcnx4 |
G |
T |
12: 72,621,174 (GRCm39) |
G998V |
possibly damaging |
Het |
| Ptprk |
G |
A |
10: 28,450,913 (GRCm39) |
|
probably null |
Het |
| Scn9a |
A |
G |
2: 66,357,416 (GRCm39) |
F951L |
probably damaging |
Het |
| Septin11 |
A |
C |
5: 93,309,063 (GRCm39) |
K248Q |
possibly damaging |
Het |
| Src |
T |
A |
2: 157,304,903 (GRCm39) |
Y151N |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,091,176 (GRCm39) |
M119K |
possibly damaging |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,656,475 (GRCm39) |
|
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
|
| Other mutations in Ddx19b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02089:Ddx19b
|
APN |
8 |
111,735,477 (GRCm39) |
splice site |
probably benign |
|
|
IGL02445:Ddx19b
|
APN |
8 |
111,735,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02756:Ddx19b
|
APN |
8 |
111,737,910 (GRCm39) |
splice site |
probably benign |
|
|
R0411:Ddx19b
|
UTSW |
8 |
111,750,596 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0483:Ddx19b
|
UTSW |
8 |
111,735,310 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1510:Ddx19b
|
UTSW |
8 |
111,742,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1797:Ddx19b
|
UTSW |
8 |
111,739,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1969:Ddx19b
|
UTSW |
8 |
111,734,890 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1981:Ddx19b
|
UTSW |
8 |
111,735,975 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1982:Ddx19b
|
UTSW |
8 |
111,735,975 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3771:Ddx19b
|
UTSW |
8 |
111,747,613 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4190:Ddx19b
|
UTSW |
8 |
111,737,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4191:Ddx19b
|
UTSW |
8 |
111,737,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4193:Ddx19b
|
UTSW |
8 |
111,737,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5132:Ddx19b
|
UTSW |
8 |
111,749,040 (GRCm39) |
missense |
probably benign |
|
|
R5435:Ddx19b
|
UTSW |
8 |
111,735,458 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7980:Ddx19b
|
UTSW |
8 |
111,738,077 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8062:Ddx19b
|
UTSW |
8 |
111,747,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8265:Ddx19b
|
UTSW |
8 |
111,735,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8899:Ddx19b
|
UTSW |
8 |
111,737,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9136:Ddx19b
|
UTSW |
8 |
111,734,906 (GRCm39) |
missense |
probably benign |
|
|
R9598:Ddx19b
|
UTSW |
8 |
111,747,673 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Ddx19b
|
UTSW |
8 |
111,742,207 (GRCm39) |
missense |
probably benign |
0.37 |
|
| Posted On |
2013-11-11 |
Incidental Mutation