Incidental Mutation 'R5397:Dhx58'
| ID |
429762 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhx58
|
| Ensembl Gene |
ENSMUSG00000017830 |
| Gene Name |
DExH-box helicase 58 |
| Synonyms |
D11Lgp2e, B430001I08Rik, LPG2 |
| MMRRC Submission |
042968-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
R5397 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
100585710-100595097 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100594746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 50
(V50A)
|
| 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: V50A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000017974
Gene: ENSMUSG00000017830
AA Change: V50A
| 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: ENSMUST00000149869
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150656
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153526
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
T |
C |
14: 8,243,803 (GRCm38) |
T518A |
probably benign |
Het |
| Acvr1b |
T |
A |
15: 101,096,845 (GRCm39) |
V254D |
probably damaging |
Het |
| Adar |
T |
C |
3: 89,642,626 (GRCm39) |
I169T |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Arap1 |
A |
T |
7: 101,034,119 (GRCm39) |
Q187L |
possibly damaging |
Het |
| Atad5 |
T |
A |
11: 80,002,319 (GRCm39) |
M1037K |
probably damaging |
Het |
| Bsg |
T |
A |
10: 79,544,629 (GRCm39) |
W56R |
probably damaging |
Het |
| C1qtnf3 |
A |
G |
15: 10,978,627 (GRCm39) |
T276A |
probably damaging |
Het |
| Capn2 |
A |
G |
1: 182,298,271 (GRCm39) |
C665R |
probably damaging |
Het |
| Cast |
A |
G |
13: 74,869,056 (GRCm39) |
S248P |
possibly damaging |
Het |
| Cd68 |
C |
T |
11: 69,556,484 (GRCm39) |
V108I |
probably benign |
Het |
| Cyp2d11 |
A |
T |
15: 82,276,279 (GRCm39) |
W131R |
probably damaging |
Het |
| Fam124a |
A |
G |
14: 62,843,838 (GRCm39) |
S449G |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,441,160 (GRCm39) |
M371I |
possibly damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gpr149 |
A |
G |
3: 62,438,226 (GRCm39) |
S644P |
probably damaging |
Het |
| Gucy1b1 |
G |
A |
3: 81,951,458 (GRCm39) |
T274I |
possibly damaging |
Het |
| Kcnq5 |
A |
G |
1: 21,476,080 (GRCm39) |
V541A |
probably damaging |
Het |
| Kdm5b |
G |
A |
1: 134,549,836 (GRCm39) |
|
probably null |
Het |
| Lig4 |
G |
T |
8: 10,022,644 (GRCm39) |
R379S |
probably benign |
Het |
| Map7 |
G |
A |
10: 20,149,067 (GRCm39) |
R514Q |
unknown |
Het |
| Mertk |
T |
A |
2: 128,613,384 (GRCm39) |
F467I |
possibly damaging |
Het |
| Mettl4 |
A |
T |
17: 95,034,705 (GRCm39) |
Y463* |
probably null |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Nme8 |
T |
C |
13: 19,878,549 (GRCm39) |
D70G |
probably damaging |
Het |
| Npat |
A |
G |
9: 53,481,774 (GRCm39) |
N1161D |
probably damaging |
Het |
| Or4k77 |
T |
A |
2: 111,199,285 (GRCm39) |
C103S |
probably benign |
Het |
| Or51ac3 |
T |
A |
7: 103,213,713 (GRCm39) |
I258F |
probably damaging |
Het |
| Or6c76b |
T |
C |
10: 129,692,579 (GRCm39) |
F64S |
probably damaging |
Het |
| Paxip1 |
A |
T |
5: 27,977,002 (GRCm39) |
|
probably benign |
Het |
| Peg10 |
C |
CTCG |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
T |
C |
10: 94,679,614 (GRCm39) |
T923A |
probably benign |
Het |
| Pms1 |
T |
A |
1: 53,231,279 (GRCm39) |
K857* |
probably null |
Het |
| Ppp1r9b |
A |
G |
11: 94,892,936 (GRCm39) |
E260G |
probably damaging |
Het |
| Prpf3 |
A |
T |
3: 95,760,891 (GRCm39) |
S4T |
probably benign |
Het |
| Rdh14 |
T |
A |
12: 10,444,869 (GRCm39) |
V240D |
probably damaging |
Het |
| Ripply1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
X: 138,680,599 (GRCm39) |
|
probably benign |
Het |
| S100a1 |
A |
T |
3: 90,419,442 (GRCm39) |
M1K |
probably null |
Het |
| Slc2a5 |
G |
A |
4: 150,224,280 (GRCm39) |
|
probably null |
Het |
| Slc5a5 |
T |
C |
8: 71,343,823 (GRCm39) |
T160A |
probably damaging |
Het |
| Srcap |
T |
G |
7: 127,152,468 (GRCm39) |
|
probably null |
Het |
| Tgm6 |
T |
A |
2: 129,983,828 (GRCm39) |
M329K |
possibly damaging |
Het |
| Tom1l1 |
G |
A |
11: 90,552,600 (GRCm39) |
A201V |
probably benign |
Het |
| Trgv5 |
A |
C |
13: 19,376,728 (GRCm39) |
E42D |
possibly damaging |
Het |
| Ttc13 |
T |
C |
8: 125,402,002 (GRCm39) |
T662A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,555,599 (GRCm39) |
T30469A |
probably damaging |
Het |
| Ube3a |
T |
A |
7: 58,936,660 (GRCm39) |
S645R |
probably benign |
Het |
| Vgll2 |
A |
G |
10: 51,901,262 (GRCm39) |
E64G |
probably damaging |
Het |
| Vmn1r25 |
A |
T |
6: 57,956,060 (GRCm39) |
C76* |
probably null |
Het |
| Vmn2r101 |
A |
G |
17: 19,809,104 (GRCm39) |
N78D |
probably damaging |
Het |
| Zcchc10 |
CCAGCAGCAGCAGCAGCAGCAG |
CCAGCAGCAGCAGCAGCAG |
11: 53,223,344 (GRCm39) |
|
probably benign |
Het |
| Zcchc7 |
C |
A |
4: 44,926,048 (GRCm39) |
A28E |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCAGGTGTACCTAGGAG -3'
(R):5'- ACAGTACGTGTTCTGATCTCTCTG -3'
Sequencing Primer
(F):5'- CACCAGGTGTACCTAGGAGTGAAG -3'
(R):5'- GATCTCTCTGCCATTCCAGAATG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation