Incidental Mutation 'IGL02880:Ddx6'
| ID |
362788 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02880
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
44516189-44552028 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 44524194 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 |
noncoding transcript
Transcript: ENSMUST00000214898
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217034
|
| 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. 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankzf1 |
T |
C |
1: 75,169,312 (GRCm39) |
S73P |
probably benign |
Het |
| Camsap3 |
T |
C |
8: 3,653,913 (GRCm39) |
Y517H |
probably damaging |
Het |
| Catsperg1 |
C |
T |
7: 28,894,910 (GRCm39) |
M562I |
possibly damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,283,310 (GRCm39) |
D7G |
probably benign |
Het |
| Ccdc65 |
A |
C |
15: 98,606,973 (GRCm39) |
N60T |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
| Col19a1 |
A |
G |
1: 24,365,054 (GRCm39) |
|
probably benign |
Het |
| Dync1i1 |
G |
A |
6: 5,966,821 (GRCm39) |
|
probably null |
Het |
| Eml6 |
T |
C |
11: 29,699,959 (GRCm39) |
N1726D |
probably benign |
Het |
| Exosc10 |
T |
C |
4: 148,660,640 (GRCm39) |
S706P |
probably damaging |
Het |
| Fcamr |
C |
T |
1: 130,741,071 (GRCm39) |
P497S |
probably benign |
Het |
| Galntl6 |
T |
C |
8: 58,257,306 (GRCm39) |
E477G |
probably benign |
Het |
| Gatd1 |
T |
G |
7: 140,990,951 (GRCm39) |
Q65H |
possibly damaging |
Het |
| Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
| Lag3 |
A |
G |
6: 124,882,434 (GRCm39) |
L354S |
probably benign |
Het |
| Lrp1 |
A |
C |
10: 127,376,091 (GRCm39) |
V4342G |
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,651,517 (GRCm39) |
I491V |
probably benign |
Het |
| Scrib |
A |
G |
15: 75,937,973 (GRCm39) |
L291P |
probably damaging |
Het |
| Shoc2 |
T |
C |
19: 54,019,525 (GRCm39) |
Y523H |
probably benign |
Het |
| Slc47a2 |
C |
T |
11: 61,198,366 (GRCm39) |
G443E |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,654,024 (GRCm39) |
|
probably benign |
Het |
| Stra6l |
C |
T |
4: 45,885,278 (GRCm39) |
T582M |
possibly damaging |
Het |
| Tmem144 |
G |
A |
3: 79,734,929 (GRCm39) |
T163I |
probably benign |
Het |
| Tnfrsf17 |
T |
C |
16: 11,137,622 (GRCm39) |
Y120H |
probably damaging |
Het |
| Tspan3 |
G |
T |
9: 56,053,800 (GRCm39) |
Q184K |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,628,270 (GRCm39) |
V14630D |
possibly damaging |
Het |
| Zfp236 |
T |
A |
18: 82,642,584 (GRCm39) |
N1054I |
probably benign |
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 |
|
R0278:Ddx6
|
UTSW |
9 |
44,542,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1330:Ddx6
|
UTSW |
9 |
44,539,070 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation