Incidental Mutation 'R0714:Dhx29'
| ID |
85926 |
| 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 |
038897-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0714 (G1)
|
| Quality Score |
213 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
113063988-113105966 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113064499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 58
(V58A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022281]
[ENSMUST00000038574]
[ENSMUST00000224176]
|
| AlphaFold |
Q6PGC1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022281
|
| SMART Domains |
Protein: ENSMUSP00000022281
Gene: ENSMUSG00000016018
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
37 |
N/A |
INTRINSIC |
|
DEXDc
|
134 |
317 |
6.42e-34 |
SMART |
|
HELICc
|
437 |
526 |
3.14e-19 |
SMART |
|
Pfam:rRNA_proc-arch
|
580 |
839 |
1.7e-91 |
PFAM |
|
DSHCT
|
863 |
1040 |
1.69e-96 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038574
AA Change: V58A
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000035244
Gene: ENSMUSG00000042426
AA Change: V58A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223866
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224176
AA Change: V58A
PolyPhen 2
Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226022
|
| Meta Mutation Damage Score |
0.0738 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
| Validation Efficiency |
100% (52/52) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17b |
G |
A |
19: 21,655,973 (GRCm39) |
R85H |
probably damaging |
Het |
| Adamts13 |
A |
G |
2: 26,876,997 (GRCm39) |
|
probably benign |
Het |
| Alb |
T |
C |
5: 90,610,665 (GRCm39) |
S82P |
possibly damaging |
Het |
| Arhgap10 |
G |
A |
8: 78,078,316 (GRCm39) |
|
probably benign |
Het |
| Aspscr1 |
T |
A |
11: 120,594,493 (GRCm39) |
|
probably null |
Het |
| Capn3 |
A |
T |
2: 120,322,361 (GRCm39) |
Q359L |
probably benign |
Het |
| Ccdc110 |
A |
T |
8: 46,396,047 (GRCm39) |
D646V |
possibly damaging |
Het |
| Ccr2 |
G |
A |
9: 123,905,966 (GRCm39) |
G82D |
probably benign |
Het |
| Col6a4 |
A |
G |
9: 105,895,102 (GRCm39) |
|
probably benign |
Het |
| Dhx35 |
C |
A |
2: 158,686,103 (GRCm39) |
Q593K |
probably benign |
Het |
| Dmd |
T |
C |
X: 83,353,503 (GRCm39) |
L2240P |
probably benign |
Het |
| Emc7 |
A |
G |
2: 112,293,277 (GRCm39) |
N162S |
possibly damaging |
Het |
| Exoc7 |
A |
T |
11: 116,184,120 (GRCm39) |
N483K |
probably benign |
Het |
| Fbxo34 |
T |
C |
14: 47,767,486 (GRCm39) |
V282A |
probably damaging |
Het |
| Fndc3c1 |
A |
T |
X: 105,468,972 (GRCm39) |
Y1087* |
probably null |
Het |
| Kat2a |
A |
G |
11: 100,602,178 (GRCm39) |
V192A |
probably damaging |
Het |
| Larp7 |
T |
C |
3: 127,340,833 (GRCm39) |
D64G |
probably damaging |
Het |
| Lnx1 |
A |
G |
5: 74,768,570 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Nckipsd |
C |
A |
9: 108,691,333 (GRCm39) |
|
probably benign |
Het |
| Ndufab1 |
A |
G |
7: 121,695,960 (GRCm39) |
|
probably benign |
Het |
| Nedd4 |
G |
A |
9: 72,638,728 (GRCm39) |
|
probably benign |
Het |
| Nrsn2 |
G |
A |
2: 152,216,042 (GRCm39) |
R54* |
probably null |
Het |
| Nt5dc3 |
T |
A |
10: 86,648,238 (GRCm39) |
V171E |
probably damaging |
Het |
| Nudt8 |
A |
G |
19: 4,052,023 (GRCm39) |
*211W |
probably null |
Het |
| Nxph4 |
A |
G |
10: 127,362,808 (GRCm39) |
S28P |
probably damaging |
Het |
| Or4f14b |
A |
G |
2: 111,774,898 (GRCm39) |
V301A |
probably benign |
Het |
| Or8k17 |
A |
C |
2: 86,066,498 (GRCm39) |
L227R |
probably damaging |
Het |
| Or9g4b |
A |
G |
2: 85,616,743 (GRCm39) |
D296G |
probably damaging |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,674 (GRCm39) |
Y302C |
probably damaging |
Het |
| Pkdrej |
A |
G |
15: 85,699,712 (GRCm39) |
S2075P |
possibly damaging |
Het |
| Sdhc |
A |
T |
1: 170,957,488 (GRCm39) |
|
probably benign |
Het |
| Sidt2 |
A |
G |
9: 45,858,358 (GRCm39) |
|
probably benign |
Het |
| Sik2 |
T |
C |
9: 50,818,736 (GRCm39) |
M413V |
probably benign |
Het |
| Slc5a4b |
A |
G |
10: 75,917,341 (GRCm39) |
F232L |
probably benign |
Het |
| Slx1b |
A |
T |
7: 126,291,620 (GRCm39) |
I148N |
probably damaging |
Het |
| Spag17 |
C |
G |
3: 99,987,472 (GRCm39) |
S1587R |
probably damaging |
Het |
| St13 |
T |
C |
15: 81,267,228 (GRCm39) |
D74G |
probably benign |
Het |
| St7l |
G |
A |
3: 104,782,244 (GRCm39) |
R207H |
probably benign |
Het |
| Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
| Tacc3 |
T |
C |
5: 33,828,741 (GRCm39) |
|
probably benign |
Het |
| Tbx22 |
G |
A |
X: 106,728,731 (GRCm39) |
V421I |
probably benign |
Het |
| Tmc3 |
G |
A |
7: 83,265,969 (GRCm39) |
A705T |
possibly damaging |
Het |
| Tmem130 |
C |
T |
5: 144,674,619 (GRCm39) |
V369M |
probably damaging |
Het |
| Tonsl |
T |
C |
15: 76,517,921 (GRCm39) |
|
probably benign |
Het |
| Trpm6 |
T |
A |
19: 18,815,451 (GRCm39) |
I1179N |
possibly damaging |
Het |
| Ttc13 |
A |
T |
8: 125,401,105 (GRCm39) |
S624T |
probably damaging |
Het |
| Utp23 |
T |
G |
15: 51,745,665 (GRCm39) |
V55G |
possibly damaging |
Het |
| Vps11 |
A |
G |
9: 44,270,953 (GRCm39) |
V143A |
possibly damaging |
Het |
| Vps50 |
G |
T |
6: 3,571,105 (GRCm39) |
V618F |
probably benign |
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 |
|
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 |
|
R2442:Dhx29
|
UTSW |
13 |
113,083,508 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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'- TGGATCTGGAAGACTACTCTCCTGC -3'
(R):5'- AAAGGCGAAGCCACGCTGTAAC -3'
Sequencing Primer
(F):5'- AGCTGAAACATGGGCGG -3'
(R):5'- AAAGGCCCTTAGACCGATCT -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation