Incidental Mutation 'R2863:Ddx6'
| ID |
253039 |
| 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 |
040453-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2863 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
44516189-44552028 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 44525553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 103
(L103F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170489]
[ENSMUST00000217034]
|
| AlphaFold |
P54823 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170489
AA Change: L103F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128421
Gene: ENSMUSG00000032097
AA Change: L103F
| 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 |
noncoding transcript
Transcript: ENSMUST00000215131
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217034
AA Change: L103F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.3589 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armh3 |
A |
T |
19: 45,874,396 (GRCm39) |
N592K |
probably damaging |
Het |
| Bag5 |
T |
C |
12: 111,677,029 (GRCm39) |
T265A |
probably benign |
Het |
| Bmper |
A |
G |
9: 23,395,237 (GRCm39) |
N656S |
probably benign |
Het |
| Boc |
A |
G |
16: 44,313,323 (GRCm39) |
S514P |
probably benign |
Het |
| Epb41l3 |
C |
T |
17: 69,517,316 (GRCm39) |
P115S |
probably benign |
Het |
| Exoc6 |
T |
C |
19: 37,641,861 (GRCm39) |
F709S |
probably benign |
Het |
| Fnip1 |
T |
C |
11: 54,393,250 (GRCm39) |
I562T |
probably damaging |
Het |
| Fxr2 |
T |
A |
11: 69,530,253 (GRCm39) |
I40N |
probably damaging |
Het |
| Ifna6 |
G |
C |
4: 88,746,099 (GRCm39) |
R149S |
probably benign |
Het |
| Ifna6 |
C |
A |
4: 88,746,086 (GRCm39) |
T145K |
probably benign |
Het |
| Ldb2 |
T |
C |
5: 44,637,666 (GRCm39) |
Q214R |
probably damaging |
Het |
| Mus81 |
T |
G |
19: 5,536,528 (GRCm39) |
Y146S |
probably damaging |
Het |
| Myh11 |
T |
C |
16: 14,057,290 (GRCm39) |
I335V |
probably benign |
Het |
| Nid2 |
G |
A |
14: 19,818,471 (GRCm39) |
E322K |
possibly damaging |
Het |
| Odad1 |
T |
C |
7: 45,597,736 (GRCm39) |
S549P |
probably benign |
Het |
| Ofcc1 |
A |
T |
13: 40,226,236 (GRCm39) |
S765R |
probably damaging |
Het |
| Ofcc1 |
T |
A |
13: 40,241,414 (GRCm39) |
H698L |
possibly damaging |
Het |
| Or8b56 |
T |
A |
9: 38,739,835 (GRCm39) |
F283I |
possibly damaging |
Het |
| Otog |
T |
G |
7: 45,918,730 (GRCm39) |
C935W |
probably damaging |
Het |
| Pcdhga3 |
T |
C |
18: 37,807,643 (GRCm39) |
V32A |
probably damaging |
Het |
| Phc3 |
C |
T |
3: 30,968,277 (GRCm39) |
D920N |
probably damaging |
Het |
| Pou6f1 |
A |
G |
15: 100,478,689 (GRCm39) |
|
probably null |
Het |
| Ppp4c |
A |
T |
7: 126,391,272 (GRCm39) |
I20N |
probably damaging |
Het |
| Prkag2 |
T |
A |
5: 25,226,790 (GRCm39) |
T156S |
probably benign |
Het |
| Psd |
T |
C |
19: 46,303,201 (GRCm39) |
D95G |
probably damaging |
Het |
| Riox2 |
A |
G |
16: 59,309,756 (GRCm39) |
D370G |
probably damaging |
Het |
| Spink14 |
T |
A |
18: 44,163,948 (GRCm39) |
C39S |
probably damaging |
Het |
| Tdrd9 |
T |
C |
12: 111,997,695 (GRCm39) |
V728A |
probably benign |
Het |
| Tgm2 |
T |
C |
2: 157,985,019 (GRCm39) |
E29G |
probably benign |
Het |
| Wdr35 |
T |
A |
12: 9,078,060 (GRCm39) |
Y1139* |
probably null |
Het |
| Wdr95 |
T |
A |
5: 149,505,321 (GRCm39) |
C367* |
probably null |
Het |
| Zfp35 |
T |
A |
18: 24,137,352 (GRCm39) |
D565E |
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 |
|
R2347:Ddx6
|
UTSW |
9 |
44,518,888 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TCCTCAGGGCAGTTTAAATAGGG -3'
(R):5'- TACCATGTTACACTATGGCTCC -3'
Sequencing Primer
(F):5'- GGGCAGTTTAAATAGGGATTAAAGC -3'
(R):5'- GAACTTACTCTGTAGACCAGGCTG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation