Incidental Mutation 'R3922:Ddx59'
ID |
306964 |
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 |
040819-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3922 (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 136344482 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 51
(V51D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027655
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027655]
|
AlphaFold |
Q9DBN9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027655
AA Change: V51D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000027655 Gene: ENSMUSG00000026404 AA Change: V51D
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
4921504E06Rik |
T |
A |
2: 19,485,371 (GRCm39) |
E432V |
probably benign |
Het |
Ahnak |
G |
A |
19: 8,983,692 (GRCm39) |
D1659N |
probably benign |
Het |
Arfgap2 |
C |
T |
2: 91,105,150 (GRCm39) |
R405W |
probably damaging |
Het |
Arhgef28 |
A |
G |
13: 98,130,452 (GRCm39) |
L462P |
possibly damaging |
Het |
Arid1b |
T |
C |
17: 5,393,316 (GRCm39) |
V2282A |
probably damaging |
Het |
Becn2 |
T |
C |
1: 175,748,852 (GRCm39) |
V306A |
probably benign |
Het |
Cdkl1 |
G |
T |
12: 69,803,373 (GRCm39) |
R168S |
probably damaging |
Het |
Cep70 |
T |
A |
9: 99,157,632 (GRCm39) |
*117R |
probably null |
Het |
Cnnm1 |
A |
G |
19: 43,428,884 (GRCm39) |
M1V |
probably null |
Het |
Cntrl |
A |
G |
2: 35,019,751 (GRCm39) |
E526G |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Dtd2 |
G |
C |
12: 52,051,734 (GRCm39) |
|
probably null |
Het |
Eea1 |
T |
A |
10: 95,872,495 (GRCm39) |
N1068K |
probably benign |
Het |
Egfr |
T |
A |
11: 16,831,495 (GRCm39) |
C555S |
probably damaging |
Het |
Esd |
A |
T |
14: 74,980,667 (GRCm39) |
Q130H |
probably benign |
Het |
Gpr89 |
A |
T |
3: 96,798,215 (GRCm39) |
I147N |
probably damaging |
Het |
H2-M10.1 |
T |
A |
17: 36,636,577 (GRCm39) |
I76L |
probably benign |
Het |
Lgi4 |
A |
T |
7: 30,766,873 (GRCm39) |
D300V |
probably benign |
Het |
Lrp1b |
C |
A |
2: 40,567,593 (GRCm39) |
V276L |
unknown |
Het |
Lrp2 |
T |
C |
2: 69,336,720 (GRCm39) |
K1351E |
probably benign |
Het |
Mroh8 |
T |
C |
2: 157,064,731 (GRCm39) |
I782V |
probably benign |
Het |
Msrb1 |
T |
C |
17: 24,959,057 (GRCm39) |
S70P |
probably damaging |
Het |
Nek10 |
T |
C |
14: 14,861,585 (GRCm38) |
M547T |
possibly damaging |
Het |
Or51ah3 |
T |
C |
7: 103,209,912 (GRCm39) |
V76A |
probably benign |
Het |
Or6c2b |
C |
A |
10: 128,947,482 (GRCm39) |
V271F |
possibly damaging |
Het |
Or9i2 |
T |
C |
19: 13,816,130 (GRCm39) |
T136A |
probably damaging |
Het |
P4htm |
T |
C |
9: 108,460,094 (GRCm39) |
N227D |
probably benign |
Het |
Plekhm2 |
T |
C |
4: 141,356,843 (GRCm39) |
T787A |
probably benign |
Het |
Pramel5 |
A |
G |
4: 143,999,622 (GRCm39) |
L155P |
probably damaging |
Het |
Sbno1 |
T |
C |
5: 124,519,993 (GRCm39) |
Y1122C |
probably damaging |
Het |
Scn9a |
T |
A |
2: 66,357,217 (GRCm39) |
D1028V |
possibly damaging |
Het |
Sft2d1 |
G |
T |
17: 8,537,714 (GRCm39) |
L34F |
possibly damaging |
Het |
Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
Slc27a3 |
G |
T |
3: 90,294,392 (GRCm39) |
H460N |
possibly damaging |
Het |
Slc35g2 |
A |
T |
9: 100,434,780 (GRCm39) |
I297N |
probably benign |
Het |
Ssh1 |
T |
G |
5: 114,080,769 (GRCm39) |
Q865P |
possibly damaging |
Het |
Trp63 |
A |
G |
16: 25,707,759 (GRCm39) |
D583G |
probably damaging |
Het |
Usp28 |
T |
C |
9: 48,942,223 (GRCm39) |
|
probably null |
Het |
Wdr43 |
A |
G |
17: 71,945,296 (GRCm39) |
|
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,465,707 (GRCm39) |
Y1955C |
probably damaging |
Het |
Zfp108 |
G |
A |
7: 23,960,773 (GRCm39) |
G455R |
probably damaging |
Het |
Zfp353-ps |
A |
T |
8: 42,536,049 (GRCm39) |
|
noncoding transcript |
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 |
|
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'- TCATGGTGCAATTTCCTCAACAG -3'
(R):5'- CCAAGCTACACACGTCTTCG -3'
Sequencing Primer
(F):5'- CAGAATGTTGAAGAATGTTTGTTCC -3'
(R):5'- TGTCACAGATATACTCTCCATAACG -3'
|
Posted On |
2015-04-17 |