Incidental Mutation 'IGL02719:Ddx47'
| ID |
304902 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ddx47
|
| Ensembl Gene |
ENSMUSG00000030204 |
| Gene Name |
DEAD box helicase 47 |
| Synonyms |
4930588A18Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
IGL02719
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
134988575-135000739 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 134994114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 131
(N131D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032326]
[ENSMUST00000130851]
[ENSMUST00000205244]
[ENSMUST00000205055]
|
| AlphaFold |
Q9CWX9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032326
AA Change: N222D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000032326
Gene: ENSMUSG00000030204
AA Change: N222D
| 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
AA Change: N40D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000115183
Gene: ENSMUSG00000030204
AA Change: N40D
| 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: N218D
|
| SMART Domains |
Protein: ENSMUSP00000119231
Gene: ENSMUSG00000030204
AA Change: N218D
| 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 |
probably benign
Transcript: ENSMUST00000205244
AA Change: N159D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000145139
Gene: ENSMUSG00000030204
AA Change: N159D
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
6 |
178 |
3e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205055
AA Change: N131D
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000145463
Gene: ENSMUSG00000030204
AA Change: N131D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
23 |
N/A |
INTRINSIC |
|
DEXDc
|
43 |
178 |
1.7e-9 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000204646
AA Change: N197D
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155277
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155698
|
| Coding Region Coverage |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
G |
5: 3,632,150 (GRCm39) |
D160G |
probably damaging |
Het |
| Aak1 |
A |
G |
6: 86,936,152 (GRCm39) |
|
probably benign |
Het |
| Anp32e |
A |
G |
3: 95,845,224 (GRCm39) |
|
probably benign |
Het |
| Aspscr1 |
T |
A |
11: 120,568,405 (GRCm39) |
L61Q |
probably damaging |
Het |
| Btrc |
A |
G |
19: 45,491,589 (GRCm39) |
I89M |
probably damaging |
Het |
| Ccdc175 |
G |
A |
12: 72,221,899 (GRCm39) |
T141M |
probably damaging |
Het |
| Cep70 |
G |
A |
9: 99,157,775 (GRCm39) |
V225I |
probably damaging |
Het |
| Cilk1 |
A |
G |
9: 78,047,301 (GRCm39) |
E67G |
probably damaging |
Het |
| Col4a1 |
T |
C |
8: 11,281,950 (GRCm39) |
|
probably benign |
Het |
| Cpne1 |
T |
C |
2: 155,920,137 (GRCm39) |
Y214C |
probably damaging |
Het |
| Crtc3 |
T |
C |
7: 80,268,406 (GRCm39) |
|
probably null |
Het |
| Cul2 |
C |
T |
18: 3,434,052 (GRCm39) |
A683V |
probably damaging |
Het |
| Dnah7b |
T |
G |
1: 46,138,768 (GRCm39) |
|
probably benign |
Het |
| Dnai2 |
T |
C |
11: 114,642,737 (GRCm39) |
L446P |
probably damaging |
Het |
| Ergic2 |
T |
C |
6: 148,106,317 (GRCm39) |
T58A |
possibly damaging |
Het |
| Erlin2 |
A |
G |
8: 27,519,703 (GRCm39) |
|
probably benign |
Het |
| Fermt2 |
T |
C |
14: 45,742,113 (GRCm39) |
T78A |
probably damaging |
Het |
| Flg2 |
G |
T |
3: 93,127,438 (GRCm39) |
G97* |
probably null |
Het |
| Gm7356 |
A |
G |
17: 14,221,537 (GRCm39) |
I164T |
probably damaging |
Het |
| Gucy1a2 |
T |
A |
9: 3,894,719 (GRCm39) |
|
probably benign |
Het |
| Heatr5b |
C |
T |
17: 79,122,969 (GRCm39) |
R670H |
probably damaging |
Het |
| Hspa4l |
T |
C |
3: 40,727,090 (GRCm39) |
V476A |
possibly damaging |
Het |
| Itpkc |
A |
T |
7: 26,927,475 (GRCm39) |
D146E |
possibly damaging |
Het |
| Kcnk3 |
T |
C |
5: 30,779,324 (GRCm39) |
F125L |
probably damaging |
Het |
| Kif12 |
T |
A |
4: 63,086,033 (GRCm39) |
M411L |
probably benign |
Het |
| Krtap24-1 |
T |
C |
16: 88,409,094 (GRCm39) |
S11G |
probably benign |
Het |
| Lilra6 |
A |
T |
7: 3,915,991 (GRCm39) |
H289Q |
possibly damaging |
Het |
| Musk |
A |
C |
4: 58,356,496 (GRCm39) |
N469H |
probably benign |
Het |
| Myom1 |
A |
G |
17: 71,413,349 (GRCm39) |
|
probably benign |
Het |
| Nagpa |
A |
G |
16: 5,019,357 (GRCm39) |
V46A |
possibly damaging |
Het |
| Or4k37 |
T |
A |
2: 111,159,590 (GRCm39) |
Y275* |
probably null |
Het |
| Or5h25 |
T |
A |
16: 58,930,536 (GRCm39) |
T146S |
probably benign |
Het |
| Or8g17 |
T |
C |
9: 38,930,312 (GRCm39) |
N175S |
probably benign |
Het |
| Parp6 |
T |
A |
9: 59,538,021 (GRCm39) |
V222E |
probably benign |
Het |
| Pde3b |
T |
A |
7: 114,105,483 (GRCm39) |
S472T |
probably damaging |
Het |
| Peak1 |
A |
G |
9: 56,134,490 (GRCm39) |
S1314P |
probably damaging |
Het |
| Pgc |
A |
G |
17: 48,039,792 (GRCm39) |
Y62C |
probably damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,278,665 (GRCm39) |
C189R |
probably damaging |
Het |
| Pla2g15 |
G |
T |
8: 106,886,828 (GRCm39) |
Q106H |
probably benign |
Het |
| Pla2g4c |
T |
A |
7: 13,064,019 (GRCm39) |
S93T |
probably damaging |
Het |
| Rbks |
G |
T |
5: 31,809,145 (GRCm39) |
|
probably benign |
Het |
| Retsat |
A |
G |
6: 72,580,642 (GRCm39) |
T207A |
possibly damaging |
Het |
| Slc25a32 |
A |
G |
15: 38,963,300 (GRCm39) |
Y174H |
probably benign |
Het |
| Slc35f2 |
T |
A |
9: 53,717,026 (GRCm39) |
|
probably benign |
Het |
| Snx19 |
A |
G |
9: 30,343,556 (GRCm39) |
N572S |
possibly damaging |
Het |
| Sos2 |
A |
G |
12: 69,663,958 (GRCm39) |
Y476H |
probably benign |
Het |
| Ssh2 |
A |
T |
11: 77,316,413 (GRCm39) |
N296I |
probably damaging |
Het |
| Sspo |
G |
T |
6: 48,459,601 (GRCm39) |
R3320L |
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,047,192 (GRCm39) |
I166V |
probably benign |
Het |
| Tpp2 |
T |
C |
1: 43,979,391 (GRCm39) |
V96A |
probably benign |
Het |
| Vmn2r3 |
A |
T |
3: 64,183,031 (GRCm39) |
W223R |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,146,089 (GRCm39) |
|
probably null |
Het |
| Zfr2 |
T |
A |
10: 81,080,546 (GRCm39) |
C407S |
probably damaging |
Het |
|
| Other mutations in Ddx47 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R4495:Ddx47
|
UTSW |
6 |
134,998,429 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation