Incidental Mutation 'R4332:Dhx36'
| ID |
323612 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhx36
|
| Ensembl Gene |
ENSMUSG00000027770 |
| Gene Name |
DEAH-box helicase 36 |
| Synonyms |
2810407E23Rik, Ddx36, RHAU |
| MMRRC Submission |
041099-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4332 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
62375434-62414425 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 62392412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 538
(R538Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029336]
|
| AlphaFold |
Q8VHK9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029336
AA Change: R538Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000029336
Gene: ENSMUSG00000027770
AA Change: R538Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
45 |
N/A |
INTRINSIC |
|
DEXDc
|
198 |
389 |
1.53e-31 |
SMART |
|
HELICc
|
495 |
600 |
5.61e-16 |
SMART |
|
HA2
|
662 |
753 |
2.23e-26 |
SMART |
|
Pfam:OB_NTP_bind
|
792 |
910 |
1.2e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162070
|
| Meta Mutation Damage Score |
0.7030 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (56/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the DEAH-box family of RNA-dependent NTPases which are named after the conserved amino acid sequence Asp-Glu-Ala-His in motif II. The protein encoded by this gene has been shown to enhance the deadenylation and decay of mRNAs with 3'-UTR AU-rich elements (ARE-mRNA). The protein has also been shown to resolve into single strands the highly stable tetramolecular DNA configuration (G4) that can form spontaneously in guanine-rich regions of DNA. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality around E7.0. Mice homozygous for a conditional allele activated in the hematopoiesis systemexhibit impaired erythropoiesis associated with cell cycle defect. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
T |
C |
8: 106,436,356 (GRCm39) |
I175T |
possibly damaging |
Het |
| A2m |
A |
G |
6: 121,634,406 (GRCm39) |
D646G |
probably benign |
Het |
| Acat2 |
T |
C |
17: 13,181,782 (GRCm39) |
|
probably benign |
Het |
| Armc10 |
T |
A |
5: 21,866,579 (GRCm39) |
V281E |
probably damaging |
Het |
| Best3 |
T |
A |
10: 116,838,429 (GRCm39) |
F162L |
probably benign |
Het |
| Ces1g |
T |
C |
8: 94,046,446 (GRCm39) |
M360V |
probably benign |
Het |
| Chd7 |
G |
T |
4: 8,854,143 (GRCm39) |
R1905L |
probably damaging |
Het |
| Efna2 |
G |
A |
10: 80,024,315 (GRCm39) |
R161Q |
probably damaging |
Het |
| Farsb |
T |
C |
1: 78,445,903 (GRCm39) |
T159A |
possibly damaging |
Het |
| Fry |
C |
T |
5: 150,305,128 (GRCm39) |
A611V |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,808,201 (GRCm39) |
T1507A |
probably benign |
Het |
| Gm5592 |
G |
T |
7: 40,865,542 (GRCm39) |
|
probably benign |
Het |
| Gm7367 |
T |
C |
7: 59,805,364 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9312 |
A |
T |
12: 24,302,095 (GRCm39) |
|
noncoding transcript |
Het |
| Gmfg |
A |
T |
7: 28,136,997 (GRCm39) |
M1L |
probably benign |
Het |
| Gpr149 |
C |
A |
3: 62,511,794 (GRCm39) |
L68F |
possibly damaging |
Het |
| Hmga2 |
T |
C |
10: 120,200,117 (GRCm39) |
|
probably benign |
Het |
| Il12a |
C |
A |
3: 68,602,594 (GRCm39) |
|
probably benign |
Het |
| Itprid1 |
G |
A |
6: 55,945,220 (GRCm39) |
G647D |
possibly damaging |
Het |
| Itsn2 |
T |
A |
12: 4,762,611 (GRCm39) |
M1597K |
possibly damaging |
Het |
| Kyat3 |
A |
G |
3: 142,431,187 (GRCm39) |
I154M |
probably damaging |
Het |
| Npas3 |
A |
C |
12: 54,108,852 (GRCm39) |
I419L |
probably damaging |
Het |
| Ogfrl1 |
T |
A |
1: 23,414,910 (GRCm39) |
Y199F |
probably damaging |
Het |
| Or14a259 |
A |
C |
7: 86,013,080 (GRCm39) |
V155G |
probably benign |
Het |
| Or5aq7 |
A |
G |
2: 86,938,089 (GRCm39) |
V214A |
possibly damaging |
Het |
| Or6b6 |
T |
C |
7: 106,571,354 (GRCm39) |
M66V |
probably benign |
Het |
| P2rx3 |
G |
A |
2: 84,855,205 (GRCm39) |
P84S |
probably benign |
Het |
| P3h3 |
A |
G |
6: 124,819,099 (GRCm39) |
V657A |
probably damaging |
Het |
| Pabpc2 |
A |
G |
18: 39,908,393 (GRCm39) |
M553V |
probably benign |
Het |
| Pcdhb1 |
T |
C |
18: 37,398,583 (GRCm39) |
F178S |
probably damaging |
Het |
| Plppr4 |
A |
T |
3: 117,116,474 (GRCm39) |
M403K |
probably benign |
Het |
| Ralgapa2 |
G |
A |
2: 146,102,288 (GRCm39) |
T1956M |
probably benign |
Het |
| Rbm12b1 |
G |
T |
4: 12,145,655 (GRCm39) |
K542N |
probably benign |
Het |
| Rdh8 |
C |
T |
9: 20,733,925 (GRCm39) |
A37V |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,327,502 (GRCm39) |
T1830A |
probably damaging |
Het |
| Sardh |
G |
T |
2: 27,105,126 (GRCm39) |
Q666K |
possibly damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Septin4 |
T |
G |
11: 87,458,730 (GRCm39) |
L368R |
possibly damaging |
Het |
| Serpinb11 |
G |
A |
1: 107,297,294 (GRCm39) |
|
probably null |
Het |
| Slc6a6 |
G |
A |
6: 91,700,452 (GRCm39) |
G60D |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,569,996 (GRCm39) |
D134G |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,831,222 (GRCm39) |
T378A |
probably benign |
Het |
| Tmprss7 |
T |
G |
16: 45,506,690 (GRCm39) |
K124T |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,571,425 (GRCm39) |
L1128P |
probably damaging |
Het |
| Usp32 |
C |
T |
11: 84,994,804 (GRCm39) |
C36Y |
possibly damaging |
Het |
| Vmn2r50 |
T |
A |
7: 9,786,922 (GRCm39) |
T62S |
probably benign |
Het |
| Zfp110 |
T |
A |
7: 12,578,498 (GRCm39) |
Y136* |
probably null |
Het |
|
| Other mutations in Dhx36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00495:Dhx36
|
APN |
3 |
62,377,979 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL00538:Dhx36
|
APN |
3 |
62,408,466 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL00706:Dhx36
|
APN |
3 |
62,404,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02040:Dhx36
|
APN |
3 |
62,408,436 (GRCm39) |
missense |
probably benign |
|
|
IGL02141:Dhx36
|
APN |
3 |
62,401,310 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02514:Dhx36
|
APN |
3 |
62,408,319 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02540:Dhx36
|
APN |
3 |
62,414,309 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02629:Dhx36
|
APN |
3 |
62,414,155 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02858:Dhx36
|
APN |
3 |
62,384,797 (GRCm39) |
splice site |
probably benign |
|
|
IGL03305:Dhx36
|
APN |
3 |
62,408,257 (GRCm39) |
nonsense |
probably null |
|
|
bundeswehr
|
UTSW |
3 |
62,386,747 (GRCm39) |
missense |
probably benign |
|
|
R0002:Dhx36
|
UTSW |
3 |
62,388,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0002:Dhx36
|
UTSW |
3 |
62,388,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0021:Dhx36
|
UTSW |
3 |
62,385,016 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0021:Dhx36
|
UTSW |
3 |
62,385,016 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0671:Dhx36
|
UTSW |
3 |
62,401,162 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0735:Dhx36
|
UTSW |
3 |
62,380,150 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0782:Dhx36
|
UTSW |
3 |
62,414,135 (GRCm39) |
splice site |
probably benign |
|
|
R1725:Dhx36
|
UTSW |
3 |
62,414,360 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
|
R1951:Dhx36
|
UTSW |
3 |
62,391,694 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1959:Dhx36
|
UTSW |
3 |
62,386,806 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2257:Dhx36
|
UTSW |
3 |
62,385,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2397:Dhx36
|
UTSW |
3 |
62,405,518 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2484:Dhx36
|
UTSW |
3 |
62,380,236 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2973:Dhx36
|
UTSW |
3 |
62,402,919 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2973:Dhx36
|
UTSW |
3 |
62,402,916 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3617:Dhx36
|
UTSW |
3 |
62,394,481 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3617:Dhx36
|
UTSW |
3 |
62,379,428 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R3725:Dhx36
|
UTSW |
3 |
62,395,643 (GRCm39) |
splice site |
probably benign |
|
|
R3898:Dhx36
|
UTSW |
3 |
62,399,790 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4359:Dhx36
|
UTSW |
3 |
62,382,699 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4493:Dhx36
|
UTSW |
3 |
62,395,925 (GRCm39) |
intron |
probably benign |
|
|
R4652:Dhx36
|
UTSW |
3 |
62,408,419 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4866:Dhx36
|
UTSW |
3 |
62,380,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4884:Dhx36
|
UTSW |
3 |
62,391,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4960:Dhx36
|
UTSW |
3 |
62,404,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5083:Dhx36
|
UTSW |
3 |
62,379,420 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5162:Dhx36
|
UTSW |
3 |
62,401,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5815:Dhx36
|
UTSW |
3 |
62,401,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6090:Dhx36
|
UTSW |
3 |
62,404,241 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6392:Dhx36
|
UTSW |
3 |
62,401,790 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6433:Dhx36
|
UTSW |
3 |
62,392,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6504:Dhx36
|
UTSW |
3 |
62,396,060 (GRCm39) |
missense |
probably benign |
|
|
R6615:Dhx36
|
UTSW |
3 |
62,396,338 (GRCm39) |
missense |
probably benign |
|
|
R6672:Dhx36
|
UTSW |
3 |
62,408,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6672:Dhx36
|
UTSW |
3 |
62,402,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7172:Dhx36
|
UTSW |
3 |
62,408,436 (GRCm39) |
missense |
probably benign |
|
|
R7302:Dhx36
|
UTSW |
3 |
62,386,814 (GRCm39) |
missense |
probably benign |
|
|
R7487:Dhx36
|
UTSW |
3 |
62,391,623 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7515:Dhx36
|
UTSW |
3 |
62,379,508 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7531:Dhx36
|
UTSW |
3 |
62,392,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7579:Dhx36
|
UTSW |
3 |
62,388,294 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7726:Dhx36
|
UTSW |
3 |
62,396,389 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7874:Dhx36
|
UTSW |
3 |
62,396,052 (GRCm39) |
missense |
probably benign |
|
|
R8056:Dhx36
|
UTSW |
3 |
62,396,012 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8226:Dhx36
|
UTSW |
3 |
62,377,991 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8361:Dhx36
|
UTSW |
3 |
62,388,221 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8529:Dhx36
|
UTSW |
3 |
62,414,277 (GRCm39) |
small deletion |
probably benign |
|
|
R8737:Dhx36
|
UTSW |
3 |
62,386,747 (GRCm39) |
missense |
probably benign |
|
|
R8947:Dhx36
|
UTSW |
3 |
62,380,387 (GRCm39) |
missense |
probably benign |
|
|
R9098:Dhx36
|
UTSW |
3 |
62,414,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9098:Dhx36
|
UTSW |
3 |
62,414,141 (GRCm39) |
nonsense |
probably null |
|
|
R9209:Dhx36
|
UTSW |
3 |
62,378,895 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9718:Dhx36
|
UTSW |
3 |
62,379,466 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTTCCCATGATTCTTTAGAGAAG -3'
(R):5'- ATCTGGGTTTGCCAAAGGAGG -3'
Sequencing Primer
(F):5'- CACTAAACTCAGTAGAACAGCTTTAG -3'
(R):5'- GTTTGCCAAAGGAGGATTTCATC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation