Incidental Mutation 'R0898:Ddx59'
| ID |
83738 |
| 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 |
039058-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0898 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
136343009-136367896 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 136344679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 117
(Y117H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027655
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027655]
|
| AlphaFold |
Q9DBN9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027655
AA Change: Y117H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027655
Gene: ENSMUSG00000026404
AA Change: Y117H
| 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
|
| Meta Mutation Damage Score |
0.6969 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adipor1 |
T |
A |
1: 134,351,814 (GRCm39) |
|
probably null |
Het |
| Apmap |
A |
G |
2: 150,427,669 (GRCm39) |
|
probably benign |
Het |
| Arhgap11a |
T |
C |
2: 113,667,221 (GRCm39) |
N442S |
probably benign |
Het |
| Bpifb5 |
C |
T |
2: 154,075,254 (GRCm39) |
A394V |
probably benign |
Het |
| Brpf3 |
A |
G |
17: 29,025,964 (GRCm39) |
T346A |
possibly damaging |
Het |
| Ccdc154 |
A |
G |
17: 25,383,055 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Col3a1 |
T |
C |
1: 45,373,153 (GRCm39) |
|
probably benign |
Het |
| Cpm |
A |
C |
10: 117,512,011 (GRCm39) |
|
probably benign |
Het |
| Crlf2 |
G |
C |
5: 109,705,004 (GRCm39) |
P67R |
probably damaging |
Het |
| Fam241b |
A |
G |
10: 61,944,773 (GRCm39) |
F98L |
probably damaging |
Het |
| Fmn2 |
G |
A |
1: 174,331,026 (GRCm39) |
G472E |
unknown |
Het |
| Gcdh |
T |
C |
8: 85,620,189 (GRCm39) |
H41R |
possibly damaging |
Het |
| Gm7713 |
A |
C |
15: 59,866,290 (GRCm39) |
|
noncoding transcript |
Het |
| Gmeb1 |
T |
C |
4: 131,962,093 (GRCm39) |
T189A |
probably benign |
Het |
| Iqck |
G |
A |
7: 118,570,664 (GRCm39) |
C272Y |
probably damaging |
Het |
| Kcnn2 |
T |
C |
18: 45,692,543 (GRCm39) |
C40R |
possibly damaging |
Het |
| Map3k1 |
T |
C |
13: 111,904,490 (GRCm39) |
|
probably benign |
Het |
| Nabp1 |
T |
C |
1: 51,510,496 (GRCm39) |
I169V |
probably benign |
Het |
| Or14j8 |
T |
C |
17: 38,263,127 (GRCm39) |
T263A |
probably benign |
Het |
| Or8c20 |
G |
A |
9: 38,260,738 (GRCm39) |
V120M |
probably damaging |
Het |
| Pfkm |
A |
G |
15: 98,026,111 (GRCm39) |
I569V |
probably benign |
Het |
| Plcb1 |
A |
T |
2: 135,229,063 (GRCm39) |
T1096S |
possibly damaging |
Het |
| Plscr4 |
A |
C |
9: 92,366,806 (GRCm39) |
D140A |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,479,332 (GRCm39) |
D1331G |
probably damaging |
Het |
| Ppfia4 |
T |
C |
1: 134,248,864 (GRCm39) |
T498A |
probably benign |
Het |
| Prkar2b |
A |
T |
12: 32,013,001 (GRCm39) |
L372I |
possibly damaging |
Het |
| Rslcan18 |
T |
C |
13: 67,246,880 (GRCm39) |
N120S |
probably benign |
Het |
| Sbf2 |
C |
T |
7: 109,970,859 (GRCm39) |
V846I |
possibly damaging |
Het |
| Slc16a7 |
A |
G |
10: 125,069,370 (GRCm39) |
I102T |
possibly damaging |
Het |
| Slc1a4 |
T |
C |
11: 20,254,349 (GRCm39) |
T506A |
probably damaging |
Het |
| Slc22a7 |
T |
C |
17: 46,744,075 (GRCm39) |
T462A |
probably damaging |
Het |
| Sox11 |
T |
C |
12: 27,391,224 (GRCm39) |
Y395C |
probably damaging |
Het |
| Taf2 |
T |
C |
15: 54,923,480 (GRCm39) |
T266A |
probably damaging |
Het |
| Tanc1 |
C |
T |
2: 59,621,132 (GRCm39) |
T317I |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,889,719 (GRCm39) |
S71P |
probably damaging |
Het |
| Tpgs2 |
G |
A |
18: 25,282,207 (GRCm39) |
P115S |
probably damaging |
Het |
| Trmt10a |
C |
T |
3: 137,855,279 (GRCm39) |
P139L |
probably damaging |
Het |
| Zfp113 |
T |
C |
5: 138,143,051 (GRCm39) |
S400G |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCACCAACAGTCCTTCTTGCC -3'
(R):5'- GCCACAGTGCTCGAAGTCGATAATG -3'
Sequencing Primer
(F):5'- TCTTCCACAGGACCTGATGA -3'
(R):5'- TGAACTGAGATTCCTAGCTGC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation