Incidental Mutation 'IGL02561:Ddx6'
| ID |
298668 |
| 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 # |
IGL02561
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
44516189-44552028 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44545465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 417
(T417I)
|
| 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: T417I
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128421
Gene: ENSMUSG00000032097
AA Change: T417I
| 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 damaging
Transcript: ENSMUST00000217034
AA Change: T417I
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217540
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
T |
A |
5: 105,125,536 (GRCm39) |
Q49L |
probably benign |
Het |
| Aifm2 |
A |
G |
10: 61,561,786 (GRCm39) |
D44G |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,228,366 (GRCm39) |
T2241A |
probably benign |
Het |
| Cntn4 |
C |
T |
6: 106,500,470 (GRCm39) |
P316S |
probably damaging |
Het |
| Ctnna2 |
G |
T |
6: 77,822,563 (GRCm39) |
S13R |
probably benign |
Het |
| Cyb5a |
G |
A |
18: 84,889,637 (GRCm39) |
G46D |
probably damaging |
Het |
| Daam1 |
T |
C |
12: 71,993,290 (GRCm39) |
V353A |
unknown |
Het |
| Fcgbp |
C |
T |
7: 27,800,599 (GRCm39) |
|
probably benign |
Het |
| Gdi2 |
T |
C |
13: 3,598,954 (GRCm39) |
I46T |
possibly damaging |
Het |
| Gm3629 |
T |
C |
14: 17,805,586 (GRCm39) |
|
probably benign |
Het |
| Grap2 |
A |
T |
15: 80,532,049 (GRCm39) |
|
probably benign |
Het |
| Gsto2 |
T |
C |
19: 47,874,629 (GRCm39) |
|
probably benign |
Het |
| Gtf2a1 |
A |
T |
12: 91,542,527 (GRCm39) |
D57E |
possibly damaging |
Het |
| Hif1a |
A |
G |
12: 73,988,980 (GRCm39) |
I622M |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,685,477 (GRCm39) |
T328A |
probably benign |
Het |
| Ighv1-54 |
T |
C |
12: 115,157,389 (GRCm39) |
K86R |
probably benign |
Het |
| Igkv4-55 |
C |
T |
6: 69,584,360 (GRCm39) |
S84N |
probably damaging |
Het |
| Ilvbl |
T |
C |
10: 78,412,978 (GRCm39) |
S167P |
probably benign |
Het |
| Kcnn2 |
A |
G |
18: 45,725,259 (GRCm39) |
I252V |
possibly damaging |
Het |
| Lss |
T |
C |
10: 76,376,264 (GRCm39) |
|
probably benign |
Het |
| Mlip |
C |
A |
9: 77,088,633 (GRCm39) |
|
probably null |
Het |
| Ncbp1 |
C |
T |
4: 46,159,711 (GRCm39) |
T408M |
possibly damaging |
Het |
| Notch4 |
A |
G |
17: 34,787,134 (GRCm39) |
|
probably benign |
Het |
| Npepps |
A |
T |
11: 97,120,675 (GRCm39) |
C528* |
probably null |
Het |
| Nxf2 |
T |
C |
X: 133,857,201 (GRCm39) |
T163A |
probably benign |
Het |
| Or4c119 |
T |
C |
2: 88,987,485 (GRCm39) |
I11M |
possibly damaging |
Het |
| Phka1 |
A |
T |
X: 101,641,895 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
T |
G |
5: 103,710,157 (GRCm39) |
L1564R |
probably damaging |
Het |
| Robo3 |
A |
G |
9: 37,338,387 (GRCm39) |
S343P |
possibly damaging |
Het |
| Smarca2 |
A |
G |
19: 26,693,582 (GRCm39) |
D1262G |
possibly damaging |
Het |
| Spns1 |
C |
T |
7: 125,972,941 (GRCm39) |
|
probably null |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Ttpal |
A |
G |
2: 163,449,369 (GRCm39) |
T75A |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,301,652 (GRCm39) |
T359A |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zic2 |
A |
T |
14: 122,715,957 (GRCm39) |
K360* |
probably null |
Het |
|
| Other mutations in Ddx6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation