Incidental Mutation 'R4495:Ddx47'
| ID |
330930 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx47
|
| Ensembl Gene |
ENSMUSG00000030204 |
| Gene Name |
DEAD box helicase 47 |
| Synonyms |
4930588A18Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 |
| MMRRC Submission |
041583-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R4495 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
134988575-135000739 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 134998429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 375
(F375S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032326]
[ENSMUST00000130851]
[ENSMUST00000205244]
[ENSMUST00000205055]
|
| AlphaFold |
Q9CWX9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032326
AA Change: F375S
PolyPhen 2
Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000032326
Gene: ENSMUSG00000030204
AA Change: F375S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
23 |
N/A |
INTRINSIC |
|
DEXDc
|
43 |
241 |
6.38e-61 |
SMART |
|
HELICc
|
277 |
358 |
8.21e-32 |
SMART |
|
low complexity region
|
413 |
437 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123022
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130851
|
| SMART Domains |
Protein: ENSMUSP00000115183
Gene: ENSMUSG00000030204
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
23 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
30 |
59 |
9e-12 |
BLAST |
|
Pfam:Helicase_C
|
99 |
138 |
2.3e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131719
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134549
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000154558
AA Change: F322S
|
| SMART Domains |
Protein: ENSMUSP00000119231
Gene: ENSMUSG00000030204
AA Change: F322S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
20 |
N/A |
INTRINSIC |
|
DEXDc
|
40 |
238 |
6.38e-61 |
SMART |
|
HELICc
|
229 |
306 |
3.67e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155022
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155277
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000204646
AA Change: F350S
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205244
|
| SMART Domains |
Protein: ENSMUSP00000145139
Gene: ENSMUSG00000030204
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
6 |
178 |
3e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205055
|
| SMART Domains |
Protein: ENSMUSP00000145463
Gene: ENSMUSG00000030204
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
23 |
N/A |
INTRINSIC |
|
DEXDc
|
43 |
178 |
1.7e-9 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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 DEAD box protein family. 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. The protein encoded by this gene can shuttle between the nucleus and the cytoplasm, and has an RNA-independent ATPase activity. Two alternatively spliced transcript variants encoding distinct 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 |
|---|
| Calcr |
A |
T |
6: 3,708,484 (GRCm39) |
|
probably null |
Het |
| Cdh4 |
T |
C |
2: 179,422,182 (GRCm39) |
V102A |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,230,573 (GRCm39) |
E1505G |
probably benign |
Het |
| Cyp2b9 |
T |
A |
7: 25,900,180 (GRCm39) |
D329E |
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,124,792 (GRCm39) |
S154A |
probably benign |
Het |
| Fry |
G |
T |
5: 150,233,928 (GRCm39) |
E133D |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,322,034 (GRCm39) |
L4562P |
probably damaging |
Het |
| Ifnlr1 |
A |
T |
4: 135,433,079 (GRCm39) |
E505V |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,897,416 (GRCm39) |
E1050G |
possibly damaging |
Het |
| Kidins220 |
T |
A |
12: 25,088,301 (GRCm39) |
|
probably null |
Het |
| Klra10 |
T |
G |
6: 130,256,311 (GRCm39) |
E114D |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mrgpra3 |
T |
C |
7: 47,239,813 (GRCm39) |
I38V |
probably benign |
Het |
| Nfkb2 |
A |
G |
19: 46,296,878 (GRCm39) |
D316G |
probably damaging |
Het |
| Nrxn2 |
A |
T |
19: 6,581,429 (GRCm39) |
T412S |
probably benign |
Het |
| Or4k37 |
T |
A |
2: 111,159,365 (GRCm39) |
N200K |
probably benign |
Het |
| Palm3 |
C |
T |
8: 84,753,495 (GRCm39) |
R97C |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,099,445 (GRCm39) |
V848A |
probably benign |
Het |
| Prdx1 |
T |
C |
4: 116,556,416 (GRCm39) |
V188A |
probably benign |
Het |
| Prep |
T |
C |
10: 44,996,915 (GRCm39) |
F398L |
probably benign |
Het |
| Prlhr |
A |
T |
19: 60,455,519 (GRCm39) |
M349K |
probably benign |
Het |
| Rwdd2b |
T |
C |
16: 87,231,450 (GRCm39) |
T235A |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,111,146 (GRCm39) |
|
probably null |
Het |
| Sidt1 |
C |
T |
16: 44,102,841 (GRCm39) |
V295M |
probably damaging |
Het |
| Sla |
T |
C |
15: 66,673,361 (GRCm39) |
T10A |
probably benign |
Het |
| Slc22a20 |
A |
G |
19: 6,034,952 (GRCm39) |
S170P |
probably benign |
Het |
| Syt6 |
C |
A |
3: 103,494,876 (GRCm39) |
C280* |
probably null |
Het |
| Thbs2 |
A |
G |
17: 14,891,675 (GRCm39) |
I954T |
probably damaging |
Het |
| Tmprss11b |
T |
A |
5: 86,812,922 (GRCm39) |
K125* |
probably null |
Het |
| Ugt1a6a |
T |
A |
1: 88,066,905 (GRCm39) |
L237H |
probably damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Wdr53 |
A |
G |
16: 32,070,969 (GRCm39) |
T105A |
probably benign |
Het |
| Xkrx |
T |
C |
X: 133,051,745 (GRCm39) |
N302S |
possibly damaging |
Het |
| Zfp704 |
T |
A |
3: 9,536,137 (GRCm39) |
S128C |
probably benign |
Het |
| Zfp759 |
A |
G |
13: 67,286,989 (GRCm39) |
|
probably null |
Het |
| Zfyve16 |
A |
T |
13: 92,625,075 (GRCm39) |
D1494E |
probably benign |
Het |
|
| Other mutations in Ddx47 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02719:Ddx47
|
APN |
6 |
134,994,114 (GRCm39) |
missense |
probably benign |
0.06 |
|
PIT4466001:Ddx47
|
UTSW |
6 |
134,992,803 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0304:Ddx47
|
UTSW |
6 |
134,994,183 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0617:Ddx47
|
UTSW |
6 |
134,994,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1223:Ddx47
|
UTSW |
6 |
134,989,277 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1468:Ddx47
|
UTSW |
6 |
134,988,703 (GRCm39) |
splice site |
probably benign |
|
|
R2005:Ddx47
|
UTSW |
6 |
134,995,084 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2134:Ddx47
|
UTSW |
6 |
134,992,313 (GRCm39) |
nonsense |
probably null |
|
|
R2993:Ddx47
|
UTSW |
6 |
134,995,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3714:Ddx47
|
UTSW |
6 |
134,996,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4352:Ddx47
|
UTSW |
6 |
134,995,018 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4355:Ddx47
|
UTSW |
6 |
134,998,468 (GRCm39) |
missense |
probably benign |
|
|
R4664:Ddx47
|
UTSW |
6 |
134,989,319 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5527:Ddx47
|
UTSW |
6 |
134,988,657 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6119:Ddx47
|
UTSW |
6 |
135,000,318 (GRCm39) |
missense |
probably benign |
|
|
R7038:Ddx47
|
UTSW |
6 |
135,000,336 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7270:Ddx47
|
UTSW |
6 |
135,000,301 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8855:Ddx47
|
UTSW |
6 |
135,000,356 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8866:Ddx47
|
UTSW |
6 |
135,000,356 (GRCm39) |
missense |
probably benign |
0.06 |
|
X0026:Ddx47
|
UTSW |
6 |
135,000,352 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATGGGCTAGAATAACTGTGTCTG -3'
(R):5'- AACCTCAAGTGTCTGATGGGG -3'
Sequencing Primer
(F):5'- CACATGAATGTCTTGTGCCTGCAG -3'
(R):5'- CTGATGGGGTAAGGCCATC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation