Incidental Mutation 'IGL01395:Dhx58'
ID |
79379 |
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 # |
IGL01395
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
100585710-100595097 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 100594752 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 48
(G48D)
|
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 damaging
Transcript: ENSMUST00000017974
AA Change: G48D
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000017974 Gene: ENSMUSG00000017830 AA Change: G48D
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: ENSMUST00000153526
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149869
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150656
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l2 |
C |
T |
18: 67,575,880 (GRCm39) |
R52H |
probably benign |
Het |
Alg8 |
T |
A |
7: 97,027,383 (GRCm39) |
Y84N |
possibly damaging |
Het |
B3gnt4 |
T |
A |
5: 123,649,131 (GRCm39) |
F165L |
probably damaging |
Het |
Calcrl |
T |
C |
2: 84,198,919 (GRCm39) |
I157V |
probably benign |
Het |
Clpx |
T |
C |
9: 65,209,133 (GRCm39) |
S83P |
probably benign |
Het |
Col7a1 |
G |
A |
9: 108,812,980 (GRCm39) |
|
probably benign |
Het |
Cttn |
A |
G |
7: 144,011,464 (GRCm39) |
V115A |
probably damaging |
Het |
Dcaf1 |
G |
A |
9: 106,735,361 (GRCm39) |
V770I |
possibly damaging |
Het |
Ddx19a |
A |
G |
8: 111,717,164 (GRCm39) |
|
probably benign |
Het |
Dennd6a |
T |
A |
14: 26,338,056 (GRCm39) |
Y175* |
probably null |
Het |
Dnah8 |
T |
A |
17: 30,854,979 (GRCm39) |
F178I |
probably benign |
Het |
Eif5b |
T |
C |
1: 38,076,339 (GRCm39) |
I629T |
probably damaging |
Het |
Frrs1 |
A |
G |
3: 116,694,654 (GRCm39) |
I492V |
probably benign |
Het |
Gm16505 |
G |
A |
13: 3,411,242 (GRCm39) |
|
noncoding transcript |
Het |
Golga4 |
G |
A |
9: 118,364,441 (GRCm39) |
G259D |
probably damaging |
Het |
Gpatch8 |
T |
C |
11: 102,371,534 (GRCm39) |
H668R |
unknown |
Het |
Gucy2c |
G |
T |
6: 136,675,027 (GRCm39) |
Q1019K |
probably damaging |
Het |
Hivep2 |
T |
C |
10: 14,008,544 (GRCm39) |
|
probably null |
Het |
Jph2 |
T |
C |
2: 163,181,847 (GRCm39) |
N439S |
probably benign |
Het |
Knl1 |
T |
A |
2: 118,902,047 (GRCm39) |
D1249E |
probably damaging |
Het |
Lrrc37a |
A |
G |
11: 103,394,687 (GRCm39) |
V246A |
probably benign |
Het |
Mast1 |
T |
C |
8: 85,639,444 (GRCm39) |
D1295G |
possibly damaging |
Het |
Mical2 |
T |
A |
7: 111,922,792 (GRCm39) |
M599K |
probably damaging |
Het |
Nr3c2 |
T |
C |
8: 77,635,477 (GRCm39) |
S193P |
possibly damaging |
Het |
Nr4a2 |
T |
A |
2: 57,002,165 (GRCm39) |
Q33L |
probably damaging |
Het |
Nrap |
A |
T |
19: 56,350,225 (GRCm39) |
M514K |
probably damaging |
Het |
Or1d2 |
T |
C |
11: 74,255,713 (GRCm39) |
F73L |
probably damaging |
Het |
Or5ac16 |
T |
A |
16: 59,022,460 (GRCm39) |
T110S |
possibly damaging |
Het |
Or9i2 |
A |
T |
19: 13,816,316 (GRCm39) |
S74T |
probably damaging |
Het |
Pde5a |
T |
C |
3: 122,611,604 (GRCm39) |
I514T |
probably benign |
Het |
Plxna4 |
A |
G |
6: 32,216,368 (GRCm39) |
V569A |
probably damaging |
Het |
Ppm1k |
T |
C |
6: 57,490,943 (GRCm39) |
H324R |
probably benign |
Het |
Prdm5 |
A |
G |
6: 65,847,374 (GRCm39) |
H155R |
possibly damaging |
Het |
Prpf19 |
C |
T |
19: 10,878,375 (GRCm39) |
T287I |
probably damaging |
Het |
Prpf8 |
C |
A |
11: 75,385,121 (GRCm39) |
A794D |
possibly damaging |
Het |
Pygb |
C |
A |
2: 150,643,503 (GRCm39) |
Q97K |
probably benign |
Het |
Rab27b |
T |
C |
18: 70,118,288 (GRCm39) |
K210E |
probably benign |
Het |
Rttn |
T |
G |
18: 89,147,894 (GRCm39) |
N2182K |
possibly damaging |
Het |
Rusc1 |
T |
C |
3: 88,999,728 (GRCm39) |
Q18R |
probably damaging |
Het |
Stat4 |
C |
T |
1: 52,051,033 (GRCm39) |
R31W |
probably damaging |
Het |
Tas2r135 |
T |
A |
6: 42,382,846 (GRCm39) |
C128* |
probably null |
Het |
Tm9sf3 |
T |
C |
19: 41,244,715 (GRCm39) |
E54G |
probably damaging |
Het |
Tmx1 |
A |
T |
12: 70,507,251 (GRCm39) |
|
probably null |
Het |
Tnrc6c |
T |
A |
11: 117,613,939 (GRCm39) |
V859E |
probably benign |
Het |
Uggt1 |
T |
C |
1: 36,194,158 (GRCm39) |
D1360G |
probably damaging |
Het |
|
Other mutations in Dhx58 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02476:Dhx58
|
APN |
11 |
100,593,090 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2013-11-05 |