Incidental Mutation 'IGL02476:Dhx58'
| ID |
294958 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dhx58
|
| Ensembl Gene |
ENSMUSG00000017830 |
| Gene Name |
DExH-box helicase 58 |
| Synonyms |
D11Lgp2e, B430001I08Rik, LPG2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
IGL02476
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
100585710-100595097 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 100593090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 206
(Q206K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017974
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006973]
[ENSMUST00000017974]
[ENSMUST00000103118]
|
| AlphaFold |
Q99J87 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006973
|
| SMART Domains |
Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
72 |
N/A |
INTRINSIC |
|
Pfam:PCAF_N
|
81 |
332 |
1.2e-155 |
PFAM |
|
low complexity region
|
398 |
417 |
N/A |
INTRINSIC |
|
Pfam:Acetyltransf_7
|
538 |
621 |
5e-13 |
PFAM |
|
Pfam:Acetyltransf_1
|
545 |
620 |
3.2e-11 |
PFAM |
|
low complexity region
|
659 |
675 |
N/A |
INTRINSIC |
|
BROMO
|
718 |
826 |
6.87e-38 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017974
AA Change: Q206K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000017974
Gene: ENSMUSG00000017830
AA Change: Q206K
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
2 |
207 |
2.86e-22 |
SMART |
|
HELICc
|
387 |
475 |
3.85e-14 |
SMART |
|
Blast:HELICc
|
497 |
543 |
4e-12 |
BLAST |
|
Pfam:RIG-I_C-RD
|
552 |
667 |
1.5e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103118
|
| SMART Domains |
Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
72 |
N/A |
INTRINSIC |
|
Pfam:PCAF_N
|
81 |
331 |
4.4e-120 |
PFAM |
|
low complexity region
|
398 |
417 |
N/A |
INTRINSIC |
|
Pfam:Acetyltransf_7
|
539 |
622 |
1.2e-11 |
PFAM |
|
Pfam:Acetyltransf_1
|
547 |
621 |
3.1e-11 |
PFAM |
|
low complexity region
|
660 |
676 |
N/A |
INTRINSIC |
|
BROMO
|
719 |
827 |
6.87e-38 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126167
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126299
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132930
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137154
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153526
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150656
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149869
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to EMCV infection and decreased susceptibility to VSV infection. Mice homozygous for a different knock-out allele exhibit increased susceptibility to WNV infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
T |
A |
1: 74,320,683 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 75,003,386 (GRCm39) |
E4752G |
possibly damaging |
Het |
| Chd1 |
C |
T |
17: 15,954,535 (GRCm39) |
P468S |
probably damaging |
Het |
| Cnot3 |
A |
G |
7: 3,661,067 (GRCm39) |
D556G |
probably benign |
Het |
| Csnk1d |
A |
G |
11: 120,863,338 (GRCm39) |
Y201H |
probably damaging |
Het |
| Dhtkd1 |
A |
G |
2: 5,935,717 (GRCm39) |
S132P |
possibly damaging |
Het |
| Dio1 |
C |
A |
4: 107,149,574 (GRCm39) |
V195F |
probably damaging |
Het |
| Dio3 |
T |
C |
12: 110,245,916 (GRCm39) |
V84A |
probably benign |
Het |
| Dnai4 |
T |
A |
4: 102,944,545 (GRCm39) |
I3L |
possibly damaging |
Het |
| Extl3 |
T |
C |
14: 65,314,693 (GRCm39) |
K163R |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,201,950 (GRCm39) |
S375T |
probably damaging |
Het |
| Fbrs |
A |
G |
7: 127,086,841 (GRCm39) |
D73G |
probably damaging |
Het |
| Fnip1 |
A |
G |
11: 54,390,393 (GRCm39) |
|
probably benign |
Het |
| Frmpd4 |
A |
G |
X: 166,280,851 (GRCm39) |
V343A |
probably damaging |
Het |
| Gcc1 |
T |
C |
6: 28,420,468 (GRCm39) |
D283G |
probably benign |
Het |
| Ghr |
T |
C |
15: 3,349,528 (GRCm39) |
D550G |
probably damaging |
Het |
| Glycam1 |
G |
A |
15: 103,471,307 (GRCm39) |
|
probably benign |
Het |
| Gpatch8 |
A |
G |
11: 102,369,417 (GRCm39) |
S1374P |
probably damaging |
Het |
| Grm1 |
A |
T |
10: 10,565,197 (GRCm39) |
M1037K |
probably benign |
Het |
| Gtpbp3 |
T |
C |
8: 71,945,242 (GRCm39) |
L438P |
probably damaging |
Het |
| Ifi205 |
G |
T |
1: 173,842,627 (GRCm39) |
N356K |
probably damaging |
Het |
| Ifi206 |
A |
G |
1: 173,309,132 (GRCm39) |
L288P |
probably benign |
Het |
| Ift57 |
T |
C |
16: 49,584,252 (GRCm39) |
V291A |
probably benign |
Het |
| Kif13a |
A |
C |
13: 46,938,772 (GRCm39) |
C166G |
probably damaging |
Het |
| Lypd6 |
A |
G |
2: 50,080,740 (GRCm39) |
T143A |
possibly damaging |
Het |
| Mtus2 |
G |
A |
5: 148,014,748 (GRCm39) |
A514T |
probably benign |
Het |
| Neu2 |
T |
C |
1: 87,524,674 (GRCm39) |
W220R |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,377,612 (GRCm39) |
S155G |
possibly damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,505,015 (GRCm39) |
E286G |
probably damaging |
Het |
| Onecut3 |
A |
G |
10: 80,349,724 (GRCm39) |
E406G |
probably benign |
Het |
| Oog2 |
T |
A |
4: 143,921,799 (GRCm39) |
D236E |
probably benign |
Het |
| Pck1 |
A |
G |
2: 173,000,075 (GRCm39) |
H502R |
probably benign |
Het |
| Pld1 |
A |
G |
3: 28,102,188 (GRCm39) |
Y313C |
probably damaging |
Het |
| Rhox3f |
A |
T |
X: 36,763,192 (GRCm39) |
|
probably benign |
Het |
| Rpl34 |
A |
G |
3: 130,520,613 (GRCm39) |
|
probably benign |
Het |
| Sema4c |
T |
C |
1: 36,595,031 (GRCm39) |
K31E |
probably damaging |
Het |
| Septin11 |
T |
C |
5: 93,296,443 (GRCm39) |
|
probably null |
Het |
| Slc4a9 |
T |
A |
18: 36,668,498 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
T |
A |
2: 127,059,408 (GRCm39) |
S434T |
probably benign |
Het |
| Snx13 |
A |
T |
12: 35,136,940 (GRCm39) |
I134F |
probably damaging |
Het |
| Syt2 |
T |
C |
1: 134,675,369 (GRCm39) |
S407P |
probably benign |
Het |
| Tbc1d19 |
T |
C |
5: 54,046,755 (GRCm39) |
|
probably null |
Het |
| Tbc1d32 |
G |
T |
10: 56,074,638 (GRCm39) |
Q192K |
possibly damaging |
Het |
| Ubr4 |
T |
A |
4: 139,148,560 (GRCm39) |
C1681* |
probably null |
Het |
| Vmn1r43 |
T |
A |
6: 89,847,043 (GRCm39) |
I148F |
possibly damaging |
Het |
| Vwa8 |
T |
C |
14: 79,162,781 (GRCm39) |
V187A |
possibly damaging |
Het |
|
| Other mutations in Dhx58 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01395:Dhx58
|
APN |
11 |
100,594,752 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0103:Dhx58
|
UTSW |
11 |
100,586,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0103:Dhx58
|
UTSW |
11 |
100,586,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0137:Dhx58
|
UTSW |
11 |
100,587,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0164:Dhx58
|
UTSW |
11 |
100,586,150 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0164:Dhx58
|
UTSW |
11 |
100,586,150 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0369:Dhx58
|
UTSW |
11 |
100,592,374 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0390:Dhx58
|
UTSW |
11 |
100,590,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0606:Dhx58
|
UTSW |
11 |
100,593,077 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1710:Dhx58
|
UTSW |
11 |
100,594,400 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1816:Dhx58
|
UTSW |
11 |
100,593,978 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1993:Dhx58
|
UTSW |
11 |
100,594,316 (GRCm39) |
splice site |
probably null |
|
|
R2281:Dhx58
|
UTSW |
11 |
100,588,980 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3176:Dhx58
|
UTSW |
11 |
100,587,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3276:Dhx58
|
UTSW |
11 |
100,587,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4651:Dhx58
|
UTSW |
11 |
100,592,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4652:Dhx58
|
UTSW |
11 |
100,592,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Dhx58
|
UTSW |
11 |
100,587,797 (GRCm39) |
splice site |
probably null |
|
|
R5030:Dhx58
|
UTSW |
11 |
100,586,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5082:Dhx58
|
UTSW |
11 |
100,587,802 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5098:Dhx58
|
UTSW |
11 |
100,585,999 (GRCm39) |
missense |
probably benign |
|
|
R5394:Dhx58
|
UTSW |
11 |
100,589,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5397:Dhx58
|
UTSW |
11 |
100,594,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5787:Dhx58
|
UTSW |
11 |
100,592,145 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5975:Dhx58
|
UTSW |
11 |
100,593,035 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6310:Dhx58
|
UTSW |
11 |
100,590,193 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6935:Dhx58
|
UTSW |
11 |
100,589,232 (GRCm39) |
splice site |
probably null |
|
|
R7311:Dhx58
|
UTSW |
11 |
100,588,997 (GRCm39) |
missense |
probably benign |
|
|
R7908:Dhx58
|
UTSW |
11 |
100,586,130 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8317:Dhx58
|
UTSW |
11 |
100,594,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8821:Dhx58
|
UTSW |
11 |
100,594,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8831:Dhx58
|
UTSW |
11 |
100,594,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9717:Dhx58
|
UTSW |
11 |
100,592,133 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2015-04-16 |
Incidental Mutation