Incidental Mutation 'IGL02191:Ddx59'
ID |
283871 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ddx59
|
Ensembl Gene |
ENSMUSG00000026404 |
Gene Name |
DEAD box helicase 59 |
Synonyms |
DEAD (Asp-Glu-Ala-Asp) box polypeptide 59, 4833411G06Rik, 1210002B07Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02191
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
136343009-136367896 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 136344896 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 189
(L189P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027655
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027655]
|
AlphaFold |
Q9DBN9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027655
AA Change: L189P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027655 Gene: ENSMUSG00000026404 AA Change: L189P
Domain | Start | End | E-Value | Type |
Pfam:zf-HIT
|
104 |
133 |
5.5e-11 |
PFAM |
DEXDc
|
222 |
420 |
5.43e-55 |
SMART |
HELICc
|
458 |
540 |
1.79e-23 |
SMART |
low complexity region
|
583 |
596 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129218
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181746
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194227
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn1 |
T |
C |
12: 80,220,883 (GRCm39) |
I642V |
probably benign |
Het |
Adam5 |
G |
A |
8: 25,302,439 (GRCm39) |
R185* |
probably null |
Het |
C2 |
T |
C |
17: 35,085,539 (GRCm39) |
I122V |
probably damaging |
Het |
Camsap1 |
A |
G |
2: 25,819,892 (GRCm39) |
I1531T |
probably damaging |
Het |
Celsr1 |
T |
C |
15: 85,863,205 (GRCm39) |
T1276A |
possibly damaging |
Het |
Cnot7 |
A |
T |
8: 40,963,068 (GRCm39) |
N35K |
probably benign |
Het |
Cyp2a12 |
A |
G |
7: 26,736,036 (GRCm39) |
I482V |
probably benign |
Het |
Cyp3a57 |
A |
G |
5: 145,302,495 (GRCm39) |
E97G |
probably damaging |
Het |
Cyp51 |
C |
A |
5: 4,150,147 (GRCm39) |
R192I |
probably benign |
Het |
Dnah6 |
A |
G |
6: 72,994,780 (GRCm39) |
I4127T |
probably benign |
Het |
Dock3 |
C |
T |
9: 106,815,340 (GRCm39) |
V1217I |
probably benign |
Het |
Ergic2 |
T |
C |
6: 148,106,319 (GRCm39) |
D57G |
probably null |
Het |
Flvcr2 |
A |
T |
12: 85,832,966 (GRCm39) |
K329* |
probably null |
Het |
Foxp1 |
T |
C |
6: 98,922,561 (GRCm39) |
S327G |
probably damaging |
Het |
Gen1 |
A |
C |
12: 11,292,297 (GRCm39) |
H562Q |
probably benign |
Het |
Gjc2 |
A |
G |
11: 59,068,386 (GRCm39) |
V32A |
probably damaging |
Het |
Grk4 |
C |
T |
5: 34,912,533 (GRCm39) |
H574Y |
probably benign |
Het |
Kif15 |
T |
A |
9: 122,804,744 (GRCm39) |
C93S |
probably damaging |
Het |
Lrtm1 |
A |
C |
14: 28,743,906 (GRCm39) |
I125L |
probably benign |
Het |
Mrgprb8 |
A |
G |
7: 48,038,527 (GRCm39) |
Y66C |
probably damaging |
Het |
Pfn1 |
G |
A |
11: 70,545,209 (GRCm39) |
A33V |
probably damaging |
Het |
Scnn1b |
A |
C |
7: 121,516,736 (GRCm39) |
K492Q |
probably damaging |
Het |
Slc22a29 |
G |
A |
19: 8,196,045 (GRCm39) |
|
probably benign |
Het |
Spocd1 |
A |
G |
4: 129,847,380 (GRCm39) |
D523G |
probably damaging |
Het |
Tmem144 |
A |
T |
3: 79,734,159 (GRCm39) |
D181E |
possibly damaging |
Het |
Tmem220 |
G |
A |
11: 66,921,933 (GRCm39) |
C101Y |
probably damaging |
Het |
Tmpo |
A |
G |
10: 90,997,741 (GRCm39) |
V682A |
probably benign |
Het |
Wdr93 |
A |
G |
7: 79,398,968 (GRCm39) |
K34R |
probably damaging |
Het |
Zdhhc16 |
C |
A |
19: 41,926,130 (GRCm39) |
C8* |
probably null |
Het |
Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
Other mutations in Ddx59 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02148:Ddx59
|
APN |
1 |
136,361,565 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02525:Ddx59
|
APN |
1 |
136,344,743 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02712:Ddx59
|
APN |
1 |
136,367,519 (GRCm39) |
missense |
probably benign |
0.14 |
R0219:Ddx59
|
UTSW |
1 |
136,360,047 (GRCm39) |
splice site |
probably benign |
|
R0898:Ddx59
|
UTSW |
1 |
136,344,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R1728:Ddx59
|
UTSW |
1 |
136,344,791 (GRCm39) |
missense |
probably benign |
|
R1729:Ddx59
|
UTSW |
1 |
136,344,791 (GRCm39) |
missense |
probably benign |
|
R1730:Ddx59
|
UTSW |
1 |
136,344,791 (GRCm39) |
missense |
probably benign |
|
R1739:Ddx59
|
UTSW |
1 |
136,344,791 (GRCm39) |
missense |
probably benign |
|
R1762:Ddx59
|
UTSW |
1 |
136,344,791 (GRCm39) |
missense |
probably benign |
|
R1783:Ddx59
|
UTSW |
1 |
136,344,791 (GRCm39) |
missense |
probably benign |
|
R1784:Ddx59
|
UTSW |
1 |
136,344,791 (GRCm39) |
missense |
probably benign |
|
R1785:Ddx59
|
UTSW |
1 |
136,344,791 (GRCm39) |
missense |
probably benign |
|
R1817:Ddx59
|
UTSW |
1 |
136,360,245 (GRCm39) |
missense |
probably damaging |
0.98 |
R1818:Ddx59
|
UTSW |
1 |
136,360,245 (GRCm39) |
missense |
probably damaging |
0.98 |
R1819:Ddx59
|
UTSW |
1 |
136,360,245 (GRCm39) |
missense |
probably damaging |
0.98 |
R2091:Ddx59
|
UTSW |
1 |
136,344,447 (GRCm39) |
missense |
probably benign |
|
R3922:Ddx59
|
UTSW |
1 |
136,344,482 (GRCm39) |
missense |
probably benign |
|
R3923:Ddx59
|
UTSW |
1 |
136,344,482 (GRCm39) |
missense |
probably benign |
|
R3926:Ddx59
|
UTSW |
1 |
136,344,482 (GRCm39) |
missense |
probably benign |
|
R3945:Ddx59
|
UTSW |
1 |
136,362,356 (GRCm39) |
missense |
probably damaging |
0.99 |
R4182:Ddx59
|
UTSW |
1 |
136,367,599 (GRCm39) |
missense |
probably benign |
0.01 |
R4589:Ddx59
|
UTSW |
1 |
136,367,480 (GRCm39) |
splice site |
probably null |
|
R4636:Ddx59
|
UTSW |
1 |
136,360,301 (GRCm39) |
missense |
probably damaging |
0.96 |
R4721:Ddx59
|
UTSW |
1 |
136,344,844 (GRCm39) |
missense |
probably benign |
0.00 |
R5276:Ddx59
|
UTSW |
1 |
136,347,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R6318:Ddx59
|
UTSW |
1 |
136,344,610 (GRCm39) |
missense |
probably damaging |
0.99 |
R7602:Ddx59
|
UTSW |
1 |
136,361,559 (GRCm39) |
missense |
probably benign |
0.01 |
R9424:Ddx59
|
UTSW |
1 |
136,344,681 (GRCm39) |
nonsense |
probably null |
|
R9489:Ddx59
|
UTSW |
1 |
136,344,594 (GRCm39) |
missense |
probably benign |
0.01 |
R9576:Ddx59
|
UTSW |
1 |
136,344,681 (GRCm39) |
nonsense |
probably null |
|
R9605:Ddx59
|
UTSW |
1 |
136,344,594 (GRCm39) |
missense |
probably benign |
0.01 |
R9634:Ddx59
|
UTSW |
1 |
136,347,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R9690:Ddx59
|
UTSW |
1 |
136,352,540 (GRCm39) |
missense |
probably damaging |
0.99 |
R9756:Ddx59
|
UTSW |
1 |
136,345,069 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Ddx59
|
UTSW |
1 |
136,360,189 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Posted On |
2015-04-16 |