Incidental Mutation 'R1330:Ddx6'
| ID |
156147 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx6
|
| Ensembl Gene |
ENSMUSG00000032097 |
| Gene Name |
DEAD-box helicase 6 |
| Synonyms |
1110001P04Rik, HLR2, DEAD (Asp-Glu-Ala-Asp) box polypeptide 6, rck, C430015D01Rik, mRCK/P54, p54, E230023J21Rik |
| MMRRC Submission |
039395-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1330 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
44516189-44552028 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 44539070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170489]
[ENSMUST00000217034]
|
| AlphaFold |
P54823 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170489
|
| SMART Domains |
Protein: ENSMUSP00000128421
Gene: ENSMUSG00000032097
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
41 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
42 |
88 |
7e-18 |
BLAST |
|
DEXDc
|
115 |
312 |
3.67e-52 |
SMART |
|
HELICc
|
348 |
429 |
1.59e-29 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213697
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217034
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.2%
- 10x: 92.6%
- 20x: 82.0%
|
| Validation Efficiency |
100% (40/40) |
| 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. The protein is an RNA helicase found in P-bodies and stress granules, and functions in translation suppression and mRNA degradation. It is required for microRNA-induced gene silencing. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Mar 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
T |
C |
7: 42,097,018 (GRCm39) |
T98A |
probably benign |
Het |
| Adgre4 |
T |
A |
17: 56,085,814 (GRCm39) |
C38S |
probably benign |
Het |
| Adgrf3 |
T |
A |
5: 30,400,093 (GRCm39) |
T83S |
probably benign |
Het |
| Arhgef40 |
T |
C |
14: 52,227,613 (GRCm39) |
V453A |
probably benign |
Het |
| Art4 |
A |
T |
6: 136,831,339 (GRCm39) |
|
probably benign |
Het |
| Cdhr2 |
A |
G |
13: 54,882,081 (GRCm39) |
K1177R |
possibly damaging |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dolk |
A |
T |
2: 30,175,112 (GRCm39) |
V311E |
probably damaging |
Het |
| Dstyk |
A |
G |
1: 132,377,618 (GRCm39) |
N408S |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,637,116 (GRCm39) |
Y1049C |
possibly damaging |
Het |
| Eva1c |
A |
C |
16: 90,701,284 (GRCm39) |
E318D |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,395,468 (GRCm39) |
W1832R |
probably damaging |
Het |
| Jup |
A |
T |
11: 100,263,502 (GRCm39) |
I689N |
probably benign |
Het |
| Kcnh7 |
A |
G |
2: 62,607,755 (GRCm39) |
S609P |
possibly damaging |
Het |
| Lrch4 |
G |
A |
5: 137,636,051 (GRCm39) |
R368Q |
probably damaging |
Het |
| Ncbp1 |
G |
A |
4: 46,167,354 (GRCm39) |
V586M |
probably benign |
Het |
| Ncstn |
C |
T |
1: 171,899,092 (GRCm39) |
M346I |
probably damaging |
Het |
| Osbpl1a |
A |
G |
18: 13,015,251 (GRCm39) |
|
probably null |
Het |
| Pcdh12 |
A |
G |
18: 38,414,914 (GRCm39) |
V737A |
probably benign |
Het |
| Pds5b |
T |
A |
5: 150,684,542 (GRCm39) |
M600K |
probably damaging |
Het |
| Rbm25 |
A |
G |
12: 83,724,666 (GRCm39) |
D805G |
probably damaging |
Het |
| Rfx7 |
C |
T |
9: 72,524,547 (GRCm39) |
T579I |
probably benign |
Het |
| Rhod |
C |
A |
19: 4,476,182 (GRCm39) |
A190S |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Slc22a2 |
A |
C |
17: 12,805,699 (GRCm39) |
D150A |
possibly damaging |
Het |
| Spink11 |
A |
G |
18: 44,329,195 (GRCm39) |
I17T |
unknown |
Het |
| Tas1r2 |
A |
G |
4: 139,396,640 (GRCm39) |
I660V |
probably benign |
Het |
| Utp20 |
G |
A |
10: 88,637,051 (GRCm39) |
P720L |
probably damaging |
Het |
| Vmn1r1 |
A |
T |
1: 181,985,572 (GRCm39) |
L31H |
probably damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,718,963 (GRCm39) |
L772P |
probably damaging |
Het |
| Wap |
T |
C |
11: 6,586,818 (GRCm39) |
T94A |
unknown |
Het |
| Wdr47 |
T |
C |
3: 108,537,069 (GRCm39) |
S586P |
probably benign |
Het |
| Zfp318 |
A |
G |
17: 46,724,684 (GRCm39) |
Y2229C |
possibly damaging |
Het |
| Zfp429 |
T |
C |
13: 67,544,262 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ddx6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02561:Ddx6
|
APN |
9 |
44,545,465 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02880:Ddx6
|
APN |
9 |
44,524,194 (GRCm39) |
splice site |
probably benign |
|
|
R0278:Ddx6
|
UTSW |
9 |
44,542,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2001:Ddx6
|
UTSW |
9 |
44,518,831 (GRCm39) |
missense |
probably benign |
|
|
R2002:Ddx6
|
UTSW |
9 |
44,518,831 (GRCm39) |
missense |
probably benign |
|
|
R2124:Ddx6
|
UTSW |
9 |
44,535,816 (GRCm39) |
nonsense |
probably null |
|
|
R2177:Ddx6
|
UTSW |
9 |
44,539,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2347:Ddx6
|
UTSW |
9 |
44,518,888 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2863:Ddx6
|
UTSW |
9 |
44,525,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2865:Ddx6
|
UTSW |
9 |
44,525,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4584:Ddx6
|
UTSW |
9 |
44,535,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Ddx6
|
UTSW |
9 |
44,524,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5476:Ddx6
|
UTSW |
9 |
44,518,753 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6213:Ddx6
|
UTSW |
9 |
44,539,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6264:Ddx6
|
UTSW |
9 |
44,540,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6368:Ddx6
|
UTSW |
9 |
44,547,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6525:Ddx6
|
UTSW |
9 |
44,534,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6994:Ddx6
|
UTSW |
9 |
44,540,020 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7252:Ddx6
|
UTSW |
9 |
44,535,050 (GRCm39) |
splice site |
probably null |
|
|
R7463:Ddx6
|
UTSW |
9 |
44,540,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7706:Ddx6
|
UTSW |
9 |
44,538,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7752:Ddx6
|
UTSW |
9 |
44,538,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7784:Ddx6
|
UTSW |
9 |
44,541,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
RF004:Ddx6
|
UTSW |
9 |
44,535,789 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTATGCACTGCTAGGGGTTGTCC -3'
(R):5'- GGCATGGAACTCATGTAAACCAGGC -3'
Sequencing Primer
(F):5'- CCTGGTAACATTGTCTACATTAGAG -3'
(R):5'- cagagacctctgtgaatttgaag -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation