Incidental Mutation 'R3782:Ddx5'
| ID |
272092 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx5
|
| Ensembl Gene |
ENSMUSG00000020719 |
| Gene Name |
DEAD box helicase 5 |
| Synonyms |
2600009A06Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 5, Hlr1, p68 |
| MMRRC Submission |
040751-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3782 (G1)
|
| Quality Score |
220 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
106671181-106680011 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106675346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 330
(I330V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021062
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018516]
[ENSMUST00000021062]
[ENSMUST00000103068]
[ENSMUST00000123339]
[ENSMUST00000127061]
[ENSMUST00000133426]
[ENSMUST00000127481]
[ENSMUST00000129585]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018516
|
| SMART Domains |
Protein: ENSMUSP00000018516
Gene: ENSMUSG00000018372
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
389 |
407 |
N/A |
INTRINSIC |
|
coiled coil region
|
584 |
633 |
N/A |
INTRINSIC |
|
coiled coil region
|
701 |
793 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021062
AA Change: I330V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000021062
Gene: ENSMUSG00000020719
AA Change: I330V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
24 |
86 |
9e-31 |
BLAST |
|
DEXDc
|
113 |
316 |
7.67e-64 |
SMART |
|
HELICc
|
355 |
436 |
3.57e-32 |
SMART |
|
low complexity region
|
477 |
496 |
N/A |
INTRINSIC |
|
Pfam:P68HR
|
498 |
532 |
8e-20 |
PFAM |
|
Pfam:P68HR
|
551 |
583 |
5.2e-20 |
PFAM |
|
low complexity region
|
592 |
603 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103068
|
| SMART Domains |
Protein: ENSMUSP00000099357
Gene: ENSMUSG00000018372
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
346 |
364 |
N/A |
INTRINSIC |
|
coiled coil region
|
541 |
590 |
N/A |
INTRINSIC |
|
coiled coil region
|
658 |
750 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000106778
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000106779
|
| SMART Domains |
Protein: ENSMUSP00000102391
Gene: ENSMUSG00000020719
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
24 |
86 |
3e-38 |
BLAST |
|
PDB:4A4D|A
|
52 |
86 |
4e-17 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123339
|
| SMART Domains |
Protein: ENSMUSP00000121733
Gene: ENSMUSG00000020719
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
24 |
86 |
7e-37 |
BLAST |
|
Pfam:DEAD
|
118 |
161 |
1.8e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127061
|
| SMART Domains |
Protein: ENSMUSP00000117441
Gene: ENSMUSG00000020718
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
PDB:1G5I|D
|
17 |
170 |
1e-100 |
PDB |
|
SCOP:d1g5ha2
|
41 |
163 |
1e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133426
AA Change: I330V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000138237
Gene: ENSMUSG00000020719
AA Change: I330V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
24 |
86 |
2e-31 |
BLAST |
|
DEXDc
|
113 |
316 |
7.67e-64 |
SMART |
|
Pfam:Helicase_C
|
359 |
406 |
1.6e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151741
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175392
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130172
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175532
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130019
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127481
|
| SMART Domains |
Protein: ENSMUSP00000138184
Gene: ENSMUSG00000020719
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
24 |
70 |
2e-26 |
BLAST |
|
PDB:4A4D|A
|
52 |
70 |
3e-7 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129585
|
| SMART Domains |
Protein: ENSMUSP00000116859
Gene: ENSMUSG00000020719
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
24 |
86 |
8e-37 |
BLAST |
|
Pfam:DEAD
|
118 |
183 |
7.2e-15 |
PFAM |
|
| Meta Mutation Damage Score |
0.0719 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (42/42) |
| 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 is a RNA-dependent ATPase, and also a proliferation-associated nuclear antigen, specifically reacting with the simian virus 40 tumor antigen. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a reporter/null allele die around E11.5 displaying blood vessel malformations. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aimp2 |
T |
A |
5: 143,843,517 (GRCm39) |
K24N |
possibly damaging |
Het |
| Atf6 |
A |
T |
1: 170,622,336 (GRCm39) |
Y428* |
probably null |
Het |
| BC034090 |
T |
C |
1: 155,102,024 (GRCm39) |
E80G |
probably damaging |
Het |
| Calcr |
T |
C |
6: 3,700,193 (GRCm39) |
T263A |
possibly damaging |
Het |
| Cdh20 |
T |
A |
1: 109,976,734 (GRCm39) |
V133E |
probably benign |
Het |
| Cpsf3 |
A |
C |
12: 21,350,067 (GRCm39) |
E262A |
possibly damaging |
Het |
| Dlg5 |
A |
G |
14: 24,240,378 (GRCm39) |
|
probably benign |
Het |
| Enam |
A |
T |
5: 88,650,674 (GRCm39) |
S653C |
probably damaging |
Het |
| Fndc3b |
A |
T |
3: 27,514,135 (GRCm39) |
V682D |
possibly damaging |
Het |
| Guf1 |
A |
T |
5: 69,724,495 (GRCm39) |
M396L |
probably benign |
Het |
| H2-Q10 |
A |
G |
17: 35,781,915 (GRCm39) |
Y179C |
possibly damaging |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Hpgd |
G |
A |
8: 56,751,453 (GRCm39) |
V94M |
probably damaging |
Het |
| Ktn1 |
G |
A |
14: 47,943,860 (GRCm39) |
|
probably benign |
Het |
| Lama5 |
T |
G |
2: 179,836,356 (GRCm39) |
H1165P |
possibly damaging |
Het |
| Lrrfip1 |
A |
G |
1: 91,039,911 (GRCm39) |
T205A |
possibly damaging |
Het |
| Mcm7 |
G |
A |
5: 138,162,998 (GRCm39) |
R385W |
probably damaging |
Het |
| Mgat4c |
A |
G |
10: 102,224,782 (GRCm39) |
E332G |
probably benign |
Het |
| Mpp7 |
A |
T |
18: 7,351,085 (GRCm39) |
H537Q |
probably damaging |
Het |
| Mx1 |
T |
C |
16: 97,253,195 (GRCm39) |
D380G |
possibly damaging |
Het |
| Nckap5 |
T |
A |
1: 125,952,811 (GRCm39) |
Q1183L |
possibly damaging |
Het |
| Nkx1-2 |
A |
G |
7: 132,199,161 (GRCm39) |
V200A |
probably damaging |
Het |
| Nr3c2 |
T |
A |
8: 77,812,313 (GRCm39) |
|
probably null |
Het |
| Nsmce1 |
C |
T |
7: 125,085,549 (GRCm39) |
V47I |
probably benign |
Het |
| Nudt3 |
A |
G |
17: 27,799,782 (GRCm39) |
S134P |
possibly damaging |
Het |
| Or1e26 |
C |
A |
11: 73,479,839 (GRCm39) |
G242C |
probably damaging |
Het |
| Or1e26 |
A |
T |
11: 73,480,194 (GRCm39) |
Y123* |
probably null |
Het |
| Or5g9 |
G |
A |
2: 85,552,040 (GRCm39) |
C97Y |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,042,892 (GRCm39) |
T2325A |
probably benign |
Het |
| Phactr4 |
A |
T |
4: 132,095,178 (GRCm39) |
|
probably null |
Het |
| Rnf7l |
T |
A |
10: 63,257,472 (GRCm39) |
H16L |
probably benign |
Het |
| Serpinb6d |
T |
A |
13: 33,848,097 (GRCm39) |
D20E |
probably benign |
Het |
| Spta1 |
A |
T |
1: 174,035,880 (GRCm39) |
Y1062F |
probably damaging |
Het |
| Ssc5d |
A |
G |
7: 4,945,790 (GRCm39) |
T941A |
probably benign |
Het |
| Taf11 |
A |
G |
17: 28,122,167 (GRCm39) |
|
probably benign |
Het |
| Tax1bp1 |
A |
G |
6: 52,716,533 (GRCm39) |
H286R |
probably damaging |
Het |
| Tmem62 |
T |
A |
2: 120,807,948 (GRCm39) |
W57R |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,790,301 (GRCm39) |
Y235C |
possibly damaging |
Het |
| Vmn2r22 |
T |
A |
6: 123,627,591 (GRCm39) |
K2* |
probably null |
Het |
| Vmn2r74 |
A |
G |
7: 85,605,322 (GRCm39) |
V442A |
probably benign |
Het |
|
| Other mutations in Ddx5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02110:Ddx5
|
APN |
11 |
106,675,835 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02975:Ddx5
|
APN |
11 |
106,672,711 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03037:Ddx5
|
APN |
11 |
106,672,930 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03046:Ddx5
|
UTSW |
11 |
106,675,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0544:Ddx5
|
UTSW |
11 |
106,673,288 (GRCm39) |
unclassified |
probably benign |
|
|
R1186:Ddx5
|
UTSW |
11 |
106,674,805 (GRCm39) |
splice site |
probably null |
|
|
R1464:Ddx5
|
UTSW |
11 |
106,675,711 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1464:Ddx5
|
UTSW |
11 |
106,675,711 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1839:Ddx5
|
UTSW |
11 |
106,675,723 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3781:Ddx5
|
UTSW |
11 |
106,675,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4968:Ddx5
|
UTSW |
11 |
106,674,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4973:Ddx5
|
UTSW |
11 |
106,675,833 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4995:Ddx5
|
UTSW |
11 |
106,676,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5839:Ddx5
|
UTSW |
11 |
106,673,032 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6263:Ddx5
|
UTSW |
11 |
106,679,139 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6314:Ddx5
|
UTSW |
11 |
106,679,347 (GRCm39) |
unclassified |
probably benign |
|
|
R6341:Ddx5
|
UTSW |
11 |
106,676,368 (GRCm39) |
splice site |
probably null |
|
|
R6707:Ddx5
|
UTSW |
11 |
106,673,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7424:Ddx5
|
UTSW |
11 |
106,673,006 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7910:Ddx5
|
UTSW |
11 |
106,675,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8145:Ddx5
|
UTSW |
11 |
106,672,911 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8849:Ddx5
|
UTSW |
11 |
106,675,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTATATCACAGCGCATGATTCC -3'
(R):5'- ACTTGCTTGGCTTGCATGAG -3'
Sequencing Primer
(F):5'- CTAGCCCCAGATCAAAGTAC -3'
(R):5'- TTGGCTTGCATGAGGAAAACACTC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation