Incidental Mutation 'R4182:Ddx59'
| ID |
319760 |
| 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 |
| MMRRC Submission |
041018-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4182 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
136343009-136367896 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 136367599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 569
(S569T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027655
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027655]
|
| AlphaFold |
Q9DBN9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027655
AA Change: S569T
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000027655
Gene: ENSMUSG00000026404
AA Change: S569T
| 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 |
|
| Meta Mutation Damage Score |
0.0738 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap12 |
T |
C |
18: 6,111,734 (GRCm39) |
D210G |
probably damaging |
Het |
| Baz2b |
A |
T |
2: 59,928,801 (GRCm39) |
|
probably benign |
Het |
| Bcl9 |
A |
G |
3: 97,120,999 (GRCm39) |
|
probably null |
Het |
| Cfap20 |
A |
T |
8: 96,151,284 (GRCm39) |
I19N |
probably damaging |
Het |
| Clnk |
T |
A |
5: 38,905,193 (GRCm39) |
|
probably benign |
Het |
| Col18a1 |
C |
T |
10: 76,894,675 (GRCm39) |
|
probably null |
Het |
| Cux2 |
C |
T |
5: 122,006,555 (GRCm39) |
G905D |
probably damaging |
Het |
| Ddx1 |
A |
T |
12: 13,281,504 (GRCm39) |
L353* |
probably null |
Het |
| Des |
C |
G |
1: 75,339,228 (GRCm39) |
A251G |
probably benign |
Het |
| Dnajc21 |
T |
C |
15: 10,460,019 (GRCm39) |
|
probably null |
Het |
| Fam217a |
T |
C |
13: 35,094,239 (GRCm39) |
T416A |
possibly damaging |
Het |
| Gbp9 |
T |
A |
5: 105,231,461 (GRCm39) |
Q375L |
probably benign |
Het |
| Grsf1 |
G |
A |
5: 88,812,015 (GRCm39) |
P271S |
probably benign |
Het |
| H2-T24 |
A |
T |
17: 36,326,376 (GRCm39) |
N174K |
possibly damaging |
Het |
| Heatr3 |
T |
C |
8: 88,897,630 (GRCm39) |
|
probably benign |
Het |
| Lurap1l |
G |
A |
4: 80,872,095 (GRCm39) |
S196N |
probably benign |
Het |
| Naaa |
C |
T |
5: 92,420,413 (GRCm39) |
|
probably null |
Het |
| Nbea |
A |
G |
3: 55,915,848 (GRCm39) |
C875R |
probably damaging |
Het |
| Nme1 |
G |
A |
11: 93,851,630 (GRCm39) |
T87I |
probably benign |
Het |
| Nphp3 |
T |
C |
9: 103,915,663 (GRCm39) |
S124P |
probably benign |
Het |
| Nrap |
C |
T |
19: 56,338,759 (GRCm39) |
V907M |
probably damaging |
Het |
| Or1o2 |
T |
G |
17: 37,542,739 (GRCm39) |
H174P |
possibly damaging |
Het |
| Or4f59 |
G |
T |
2: 111,872,873 (GRCm39) |
P168Q |
probably damaging |
Het |
| Pcdhga8 |
A |
G |
18: 37,860,336 (GRCm39) |
N464S |
probably damaging |
Het |
| Pdcd6ip |
T |
C |
9: 113,529,078 (GRCm39) |
I75V |
probably benign |
Het |
| Ralgapa2 |
G |
A |
2: 146,277,914 (GRCm39) |
P416S |
probably damaging |
Het |
| Saal1 |
A |
G |
7: 46,360,076 (GRCm39) |
|
probably benign |
Het |
| Susd5 |
A |
G |
9: 113,925,053 (GRCm39) |
E312G |
probably benign |
Het |
| Tgfb2 |
T |
A |
1: 186,361,222 (GRCm39) |
D315V |
possibly damaging |
Het |
| Tll1 |
C |
T |
8: 64,494,545 (GRCm39) |
D737N |
probably damaging |
Het |
| Tmem115 |
A |
G |
9: 107,412,482 (GRCm39) |
T269A |
probably damaging |
Het |
| Ttc39b |
T |
C |
4: 83,155,538 (GRCm39) |
D490G |
probably damaging |
Het |
| Vmn1r72 |
C |
T |
7: 11,403,995 (GRCm39) |
R151K |
probably benign |
Het |
| Vmn2r74 |
A |
T |
7: 85,606,395 (GRCm39) |
F317Y |
possibly damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
| Zfp560 |
A |
G |
9: 20,258,744 (GRCm39) |
I706T |
probably benign |
Het |
| Zfp982 |
A |
G |
4: 147,597,150 (GRCm39) |
K169R |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACAGAACACCATTAGGATTG -3'
(R):5'- TGACAGACCAGGTCATTTCTG -3'
Sequencing Primer
(F):5'- GAACACCATTAGGATTGCACAC -3'
(R):5'- GACAGACCAGGTCATTTCTGTGAAC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation