Incidental Mutation 'R2347:Ddx6'
| ID |
246009 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2347 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
44516189-44552028 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44518888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 67
(K67E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170489]
[ENSMUST00000217034]
|
| AlphaFold |
P54823 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170489
AA Change: K67E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000128421
Gene: ENSMUSG00000032097
AA Change: K67E
| 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
AA Change: K67E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 12 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ces1a |
C |
T |
8: 93,751,947 (GRCm39) |
V396M |
probably benign |
Het |
| Fut2 |
T |
C |
7: 45,299,752 (GRCm39) |
D340G |
probably damaging |
Het |
| Gm128 |
A |
G |
3: 95,148,241 (GRCm39) |
Y18H |
probably benign |
Het |
| Gon4l |
A |
G |
3: 88,770,824 (GRCm39) |
D502G |
probably damaging |
Het |
| Lman2 |
T |
A |
13: 55,500,812 (GRCm39) |
N129I |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or12j2 |
T |
A |
7: 139,916,060 (GRCm39) |
M95K |
probably damaging |
Het |
| Or4c52 |
G |
T |
2: 89,845,958 (GRCm39) |
R228L |
possibly damaging |
Het |
| Or8g21 |
A |
T |
9: 38,905,805 (GRCm39) |
*309K |
probably null |
Het |
| Pappa2 |
C |
A |
1: 158,592,613 (GRCm39) |
C1588F |
probably damaging |
Het |
| Piwil2 |
T |
C |
14: 70,646,366 (GRCm39) |
D390G |
probably damaging |
Het |
| Rest |
A |
G |
5: 77,416,440 (GRCm39) |
Y218C |
probably damaging |
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 |
|
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 |
|
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'- AAGAGACACCTGTGCAGCTAAC -3'
(R):5'- TGCTGGGTCGATTACAATGG -3'
Sequencing Primer
(F):5'- CAGAGAACCCTGTTATCATGGGTC -3'
(R):5'- TGGCAGGTCACACACTACTTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation