Incidental Mutation 'R2442:Dhx29'
| ID |
249835 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhx29
|
| Ensembl Gene |
ENSMUSG00000042426 |
| Gene Name |
DExH-box helicase 29 |
| Synonyms |
E130202M19Rik, DEAH (Asp-Glu-Ala-His) box polypeptide 29 |
| MMRRC Submission |
040400-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2442 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
113063988-113105966 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113083508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 521
(E521G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035244
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038574]
|
| AlphaFold |
Q6PGC1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038574
AA Change: E521G
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000035244
Gene: ENSMUSG00000042426
AA Change: E521G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
255 |
N/A |
INTRINSIC |
|
coiled coil region
|
279 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
358 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
411 |
450 |
2e-14 |
BLAST |
|
DEXDc
|
569 |
763 |
1.09e-27 |
SMART |
|
low complexity region
|
846 |
856 |
N/A |
INTRINSIC |
|
HELICc
|
880 |
985 |
6.1e-17 |
SMART |
|
HA2
|
1047 |
1138 |
8.9e-26 |
SMART |
|
Pfam:OB_NTP_bind
|
1178 |
1298 |
3.8e-19 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein functions in translation initiation, and is specifically required for ribosomal scanning across stable mRNA secondary structures during initiation codon selection. This protein may also play a role in sensing virally derived cytosolic nucleic acids. Knockdown of this gene results in reduced protein translation and impaired proliferation of cancer cells. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,547,606 (GRCm39) |
V256A |
probably benign |
Het |
| Acap1 |
T |
C |
11: 69,780,317 (GRCm39) |
N42S |
possibly damaging |
Het |
| Apoo-ps |
C |
A |
13: 107,551,140 (GRCm39) |
|
noncoding transcript |
Het |
| Bri3 |
C |
T |
5: 144,181,411 (GRCm39) |
T39I |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,984,119 (GRCm39) |
S3312P |
unknown |
Het |
| Camkmt |
C |
A |
17: 85,398,203 (GRCm39) |
A17E |
possibly damaging |
Het |
| Cc2d2a |
G |
T |
5: 43,828,647 (GRCm39) |
|
probably null |
Het |
| Ccdc122 |
G |
T |
14: 77,329,398 (GRCm39) |
M150I |
possibly damaging |
Het |
| Celf4 |
A |
G |
18: 25,886,516 (GRCm39) |
F57L |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,957,759 (GRCm39) |
F564Y |
possibly damaging |
Het |
| Ces1c |
T |
C |
8: 93,849,840 (GRCm39) |
D38G |
probably damaging |
Het |
| Cts7 |
C |
A |
13: 61,503,431 (GRCm39) |
G178* |
probably null |
Het |
| Dcc |
A |
T |
18: 71,589,954 (GRCm39) |
Y681N |
probably damaging |
Het |
| Dnase2a |
T |
C |
8: 85,635,622 (GRCm39) |
V35A |
probably damaging |
Het |
| Eif3l |
A |
G |
15: 78,969,807 (GRCm39) |
M268V |
probably damaging |
Het |
| Foxc1 |
A |
G |
13: 31,992,781 (GRCm39) |
M531V |
unknown |
Het |
| Grin2c |
A |
G |
11: 115,141,960 (GRCm39) |
Y820H |
probably damaging |
Het |
| Ifit1bl1 |
G |
A |
19: 34,572,289 (GRCm39) |
A56V |
probably benign |
Het |
| Iqsec1 |
T |
C |
6: 90,666,865 (GRCm39) |
E524G |
possibly damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,304,091 (GRCm39) |
I154V |
possibly damaging |
Het |
| Kdm1b |
T |
A |
13: 47,216,451 (GRCm39) |
Y274N |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,948,922 (GRCm39) |
L1889Q |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,075,312 (GRCm39) |
T1010A |
probably benign |
Het |
| Mmp11 |
T |
C |
10: 75,763,079 (GRCm39) |
N171S |
probably benign |
Het |
| Myom1 |
A |
G |
17: 71,417,730 (GRCm39) |
E1409G |
probably damaging |
Het |
| N4bp1 |
A |
G |
8: 87,588,668 (GRCm39) |
I90T |
probably damaging |
Het |
| Or4c52 |
T |
C |
2: 89,845,685 (GRCm39) |
V137A |
probably benign |
Het |
| Plcb4 |
T |
C |
2: 135,792,302 (GRCm39) |
S342P |
probably damaging |
Het |
| Plg |
A |
G |
17: 12,629,847 (GRCm39) |
E627G |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGAG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Slc7a14 |
A |
G |
3: 31,284,469 (GRCm39) |
I289T |
probably damaging |
Het |
| Srpra |
G |
A |
9: 35,123,297 (GRCm39) |
G43S |
possibly damaging |
Het |
| Tbc1d9 |
T |
C |
8: 83,892,705 (GRCm39) |
M1T |
probably null |
Het |
| Tcte2 |
A |
T |
17: 13,934,339 (GRCm39) |
I90N |
possibly damaging |
Het |
| Trim30c |
G |
A |
7: 104,031,481 (GRCm39) |
P445S |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,754,776 (GRCm39) |
Q1984R |
probably damaging |
Het |
| Ubn2 |
T |
C |
6: 38,467,940 (GRCm39) |
S885P |
probably benign |
Het |
| Unc45a |
A |
G |
7: 79,989,417 (GRCm39) |
F17S |
probably damaging |
Het |
| Uts2b |
C |
T |
16: 27,179,782 (GRCm39) |
V75I |
probably benign |
Het |
| Vmn2r103 |
A |
G |
17: 19,993,793 (GRCm39) |
K57E |
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,221,210 (GRCm39) |
S524G |
probably damaging |
Het |
|
| Other mutations in Dhx29 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00337:Dhx29
|
APN |
13 |
113,101,137 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL00434:Dhx29
|
APN |
13 |
113,091,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00659:Dhx29
|
APN |
13 |
113,103,169 (GRCm39) |
splice site |
probably benign |
|
|
IGL01618:Dhx29
|
APN |
13 |
113,101,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01777:Dhx29
|
APN |
13 |
113,067,406 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02010:Dhx29
|
APN |
13 |
113,103,168 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02125:Dhx29
|
APN |
13 |
113,091,834 (GRCm39) |
splice site |
probably benign |
|
|
IGL02324:Dhx29
|
APN |
13 |
113,064,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02801:Dhx29
|
APN |
13 |
113,101,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0001:Dhx29
|
UTSW |
13 |
113,101,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0362:Dhx29
|
UTSW |
13 |
113,099,393 (GRCm39) |
missense |
probably benign |
|
|
R0468:Dhx29
|
UTSW |
13 |
113,099,811 (GRCm39) |
missense |
probably benign |
|
|
R0569:Dhx29
|
UTSW |
13 |
113,084,748 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0714:Dhx29
|
UTSW |
13 |
113,064,499 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1460:Dhx29
|
UTSW |
13 |
113,101,744 (GRCm39) |
splice site |
probably benign |
|
|
R1579:Dhx29
|
UTSW |
13 |
113,072,132 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1657:Dhx29
|
UTSW |
13 |
113,089,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1735:Dhx29
|
UTSW |
13 |
113,081,620 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1768:Dhx29
|
UTSW |
13 |
113,084,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1851:Dhx29
|
UTSW |
13 |
113,084,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1937:Dhx29
|
UTSW |
13 |
113,101,864 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2180:Dhx29
|
UTSW |
13 |
113,099,406 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2219:Dhx29
|
UTSW |
13 |
113,089,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2679:Dhx29
|
UTSW |
13 |
113,083,910 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2908:Dhx29
|
UTSW |
13 |
113,064,385 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2912:Dhx29
|
UTSW |
13 |
113,072,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3414:Dhx29
|
UTSW |
13 |
113,083,807 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3931:Dhx29
|
UTSW |
13 |
113,095,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3957:Dhx29
|
UTSW |
13 |
113,067,455 (GRCm39) |
missense |
probably benign |
|
|
R4065:Dhx29
|
UTSW |
13 |
113,101,276 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4207:Dhx29
|
UTSW |
13 |
113,064,483 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4422:Dhx29
|
UTSW |
13 |
113,083,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4717:Dhx29
|
UTSW |
13 |
113,083,469 (GRCm39) |
missense |
unknown |
|
|
R4718:Dhx29
|
UTSW |
13 |
113,083,469 (GRCm39) |
missense |
unknown |
|
|
R5125:Dhx29
|
UTSW |
13 |
113,069,134 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5178:Dhx29
|
UTSW |
13 |
113,069,134 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5263:Dhx29
|
UTSW |
13 |
113,084,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5458:Dhx29
|
UTSW |
13 |
113,103,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5469:Dhx29
|
UTSW |
13 |
113,081,073 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5541:Dhx29
|
UTSW |
13 |
113,076,908 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5573:Dhx29
|
UTSW |
13 |
113,069,749 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5664:Dhx29
|
UTSW |
13 |
113,083,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5682:Dhx29
|
UTSW |
13 |
113,067,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5769:Dhx29
|
UTSW |
13 |
113,090,251 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5917:Dhx29
|
UTSW |
13 |
113,099,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5928:Dhx29
|
UTSW |
13 |
113,101,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6115:Dhx29
|
UTSW |
13 |
113,089,335 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6144:Dhx29
|
UTSW |
13 |
113,101,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6195:Dhx29
|
UTSW |
13 |
113,101,071 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6233:Dhx29
|
UTSW |
13 |
113,101,071 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6430:Dhx29
|
UTSW |
13 |
113,081,153 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6480:Dhx29
|
UTSW |
13 |
113,090,322 (GRCm39) |
nonsense |
probably null |
|
|
R6527:Dhx29
|
UTSW |
13 |
113,069,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6856:Dhx29
|
UTSW |
13 |
113,089,395 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7391:Dhx29
|
UTSW |
13 |
113,099,393 (GRCm39) |
missense |
probably benign |
|
|
R7555:Dhx29
|
UTSW |
13 |
113,064,176 (GRCm39) |
start gained |
probably benign |
|
|
R7602:Dhx29
|
UTSW |
13 |
113,081,093 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8744:Dhx29
|
UTSW |
13 |
113,089,418 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9281:Dhx29
|
UTSW |
13 |
113,078,240 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9450:Dhx29
|
UTSW |
13 |
113,083,862 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9496:Dhx29
|
UTSW |
13 |
113,089,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9716:Dhx29
|
UTSW |
13 |
113,081,612 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Z1177:Dhx29
|
UTSW |
13 |
113,092,051 (GRCm39) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCACAGTCTAACGTAGCTCC -3'
(R):5'- TGAGTCCCGGTGTTTGAAC -3'
Sequencing Primer
(F):5'- CTCCTACGTACCGGGATGTTTG -3'
(R):5'- TGAACACAGGTAGCTGCTGTCTC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation