Incidental Mutation 'R4636:Ddx59'
ID |
500722 |
Institutional Source |
Beutler Lab
|
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 # |
R4636 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
136343009-136367896 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 136360301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 438
(N438K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027655
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027655]
|
AlphaFold |
Q9DBN9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027655
AA Change: N438K
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000027655 Gene: ENSMUSG00000026404 AA Change: N438K
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: ENSMUST00000122959
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149783
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apcs |
T |
C |
1: 172,721,989 (GRCm39) |
E119G |
probably damaging |
Het |
Arhgef5 |
A |
G |
6: 43,251,876 (GRCm39) |
T876A |
probably benign |
Het |
Arih2 |
A |
T |
9: 108,491,013 (GRCm39) |
C227S |
probably damaging |
Het |
Bsn |
A |
T |
9: 107,992,623 (GRCm39) |
L1043Q |
probably damaging |
Het |
Cyp2d34 |
G |
C |
15: 82,504,929 (GRCm39) |
P44A |
probably damaging |
Het |
Esr2 |
A |
G |
12: 76,170,098 (GRCm39) |
M447T |
possibly damaging |
Het |
Fam131b |
A |
G |
6: 42,297,914 (GRCm39) |
S92P |
probably damaging |
Het |
Galnt9 |
A |
G |
5: 110,763,365 (GRCm39) |
M457V |
probably damaging |
Het |
Gorasp2 |
T |
A |
2: 70,509,836 (GRCm39) |
Y166N |
probably damaging |
Het |
Gpat3 |
C |
T |
5: 101,005,039 (GRCm39) |
P58L |
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,266,983 (GRCm39) |
E4308G |
possibly damaging |
Het |
Mrpl1 |
G |
T |
5: 96,358,034 (GRCm39) |
V5L |
probably benign |
Het |
Nifk |
T |
A |
1: 118,257,217 (GRCm39) |
Y117N |
possibly damaging |
Het |
Notch2 |
A |
G |
3: 98,053,420 (GRCm39) |
K2028E |
probably benign |
Het |
Or4a76 |
A |
C |
2: 89,460,516 (GRCm39) |
I242S |
possibly damaging |
Het |
Prpf3 |
A |
G |
3: 95,741,482 (GRCm39) |
F558S |
probably damaging |
Het |
Rabgap1l |
T |
C |
1: 160,169,660 (GRCm39) |
|
probably null |
Het |
Rasa2 |
C |
T |
9: 96,426,390 (GRCm39) |
D819N |
probably benign |
Het |
Rbl1 |
T |
A |
2: 157,009,340 (GRCm39) |
T732S |
possibly damaging |
Het |
Slc14a2 |
A |
G |
18: 78,239,007 (GRCm39) |
V204A |
possibly damaging |
Het |
Ttn |
A |
C |
2: 76,643,937 (GRCm39) |
L13097R |
probably damaging |
Het |
Wdpcp |
A |
G |
11: 21,661,568 (GRCm39) |
E280G |
probably benign |
Het |
Znhit6 |
G |
T |
3: 145,306,334 (GRCm39) |
V280L |
probably null |
Het |
Znhit6 |
A |
G |
3: 145,306,333 (GRCm39) |
|
silent |
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 |
IGL02191:Ddx59
|
APN |
1 |
136,344,896 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTTTCTGCCACCATTCCAG -3'
(R):5'- TAGCACACCATGAGCTGAAGG -3'
Sequencing Primer
(F):5'- TTCTGCCACCATTCCAGATAGCATAG -3'
(R):5'- AGCTATATGGTTTCAGGCAAGCC -3'
|
Posted On |
2017-12-01 |