Incidental Mutation 'R5132:Ddx19b'
| ID |
395875 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx19b
|
| Ensembl Gene |
ENSMUSG00000033658 |
| Gene Name |
DEAD box helicase 19b |
| Synonyms |
4921519L13Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 19b, 2810457M08Rik |
| MMRRC Submission |
042720-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5132 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
111729820-111758383 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 111749040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 66
(D66E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040241]
[ENSMUST00000065784]
|
| AlphaFold |
Q8BZY3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040241
AA Change: D51E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038551
Gene: ENSMUSG00000033658
AA Change: D51E
| 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 benign
Transcript: ENSMUST00000065784
AA Change: D66E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000066806
Gene: ENSMUSG00000033658
AA Change: D66E
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
A |
T |
1: 156,469,402 (GRCm39) |
K785* |
probably null |
Het |
| Acad11 |
A |
T |
9: 104,003,791 (GRCm39) |
I628L |
probably benign |
Het |
| Ago1 |
T |
C |
4: 126,355,516 (GRCm39) |
I98V |
probably benign |
Het |
| Bach2 |
A |
G |
4: 32,563,396 (GRCm39) |
|
probably benign |
Het |
| Calr3 |
C |
T |
8: 73,185,212 (GRCm39) |
|
probably null |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Cdc42ep3 |
C |
T |
17: 79,642,803 (GRCm39) |
R39H |
probably damaging |
Het |
| Cyp2j5 |
T |
C |
4: 96,517,733 (GRCm39) |
Y493C |
probably damaging |
Het |
| Drosha |
A |
G |
15: 12,837,377 (GRCm39) |
D287G |
unknown |
Het |
| Gm8888 |
A |
G |
15: 96,664,892 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr25 |
G |
T |
1: 136,188,103 (GRCm39) |
A170E |
probably damaging |
Het |
| Gria1 |
A |
G |
11: 57,180,225 (GRCm39) |
Y656C |
probably damaging |
Het |
| Grik5 |
C |
T |
7: 24,764,629 (GRCm39) |
V145I |
probably benign |
Het |
| Htt |
T |
C |
5: 35,063,023 (GRCm39) |
V2885A |
possibly damaging |
Het |
| Larp6 |
A |
G |
9: 60,644,493 (GRCm39) |
E211G |
probably damaging |
Het |
| Magi1 |
C |
A |
6: 93,660,072 (GRCm39) |
|
probably null |
Het |
| Mtbp |
A |
G |
15: 55,421,965 (GRCm39) |
S63G |
possibly damaging |
Het |
| Ndor1 |
A |
T |
2: 25,137,781 (GRCm39) |
S513T |
probably benign |
Het |
| Nsd3 |
A |
G |
8: 26,168,855 (GRCm39) |
D670G |
possibly damaging |
Het |
| Or10ag56 |
A |
T |
2: 87,139,282 (GRCm39) |
M50L |
probably damaging |
Het |
| Or4k49 |
T |
A |
2: 111,495,344 (GRCm39) |
Y258N |
probably damaging |
Het |
| Or5e1 |
T |
C |
7: 108,354,477 (GRCm39) |
V138A |
probably damaging |
Het |
| Pcdh7 |
T |
C |
5: 57,885,463 (GRCm39) |
V1061A |
probably benign |
Het |
| Pdia4 |
A |
G |
6: 47,773,669 (GRCm39) |
I560T |
probably benign |
Het |
| Pomt2 |
A |
G |
12: 87,157,121 (GRCm39) |
F733L |
probably damaging |
Het |
| Pprc1 |
T |
C |
19: 46,061,121 (GRCm39) |
|
probably benign |
Het |
| Prkca |
T |
C |
11: 108,082,943 (GRCm39) |
|
probably benign |
Het |
| Pspc1 |
A |
T |
14: 56,960,707 (GRCm39) |
S473T |
probably benign |
Het |
| Rgs12 |
A |
G |
5: 35,147,156 (GRCm39) |
|
probably benign |
Het |
| Scn3a |
C |
T |
2: 65,298,548 (GRCm39) |
V1384I |
probably benign |
Het |
| Serpinb6a |
C |
T |
13: 34,102,305 (GRCm39) |
D307N |
probably benign |
Het |
| Smap2 |
T |
C |
4: 120,830,370 (GRCm39) |
E255G |
possibly damaging |
Het |
| Spmip6 |
A |
G |
4: 41,517,178 (GRCm39) |
|
probably benign |
Het |
| St7 |
A |
T |
6: 17,854,956 (GRCm39) |
I298F |
probably damaging |
Het |
| Tgm7 |
A |
G |
2: 120,934,700 (GRCm39) |
F93L |
probably damaging |
Het |
| Timm23 |
A |
T |
14: 31,915,902 (GRCm39) |
D56E |
probably damaging |
Het |
| Tmem170 |
A |
T |
8: 112,596,357 (GRCm39) |
M56K |
probably benign |
Het |
|
| Other mutations in Ddx19b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01452:Ddx19b
|
APN |
8 |
111,747,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTACCATAAGTTCAAGGCTAACTC -3'
(R):5'- CAGATAGGCAGTGTCTCGAAGC -3'
Sequencing Primer
(F):5'- CAACTGCATAGATTTGTAGGCCAGC -3'
(R):5'- CCCCCAGAATTAGAGTTGT -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation