Incidental Mutation 'R0735:Dhx36'
| ID |
68214 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhx36
|
| Ensembl Gene |
ENSMUSG00000027770 |
| Gene Name |
DEAH-box helicase 36 |
| Synonyms |
2810407E23Rik, Ddx36, RHAU |
| MMRRC Submission |
038916-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0735 (G1)
|
| Quality Score |
206 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
62375434-62414425 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 62380150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 849
(M849L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029336]
|
| AlphaFold |
Q8VHK9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029336
AA Change: M849L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000029336
Gene: ENSMUSG00000027770
AA Change: M849L
| 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: ENSMUST00000160858
|
| Meta Mutation Damage Score |
0.0614 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 96.7%
- 20x: 91.8%
|
| Validation Efficiency |
95% (73/77) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
A |
14: 29,711,669 (GRCm39) |
M405K |
probably benign |
Het |
| Adam10 |
G |
A |
9: 70,655,533 (GRCm39) |
V334I |
possibly damaging |
Het |
| Adgra2 |
G |
T |
8: 27,607,346 (GRCm39) |
G686C |
probably damaging |
Het |
| Akap11 |
A |
T |
14: 78,747,518 (GRCm39) |
I1623N |
probably damaging |
Het |
| Astn1 |
A |
T |
1: 158,299,959 (GRCm39) |
T100S |
possibly damaging |
Het |
| B3galt1 |
A |
C |
2: 67,948,923 (GRCm39) |
I213L |
possibly damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,644,236 (GRCm39) |
K101E |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,695,038 (GRCm39) |
I1552K |
possibly damaging |
Het |
| Camsap2 |
A |
G |
1: 136,220,626 (GRCm39) |
S324P |
probably damaging |
Het |
| Chrnb4 |
A |
G |
9: 54,951,084 (GRCm39) |
S60P |
probably damaging |
Het |
| Cpne1 |
A |
G |
2: 155,920,670 (GRCm39) |
|
probably null |
Het |
| Cubn |
G |
A |
2: 13,496,500 (GRCm39) |
|
probably benign |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Cxcl15 |
T |
C |
5: 90,949,153 (GRCm39) |
M106T |
probably benign |
Het |
| Cyp2c23 |
A |
T |
19: 44,005,249 (GRCm39) |
M140K |
probably damaging |
Het |
| Dgke |
A |
G |
11: 88,950,901 (GRCm39) |
F104S |
probably benign |
Het |
| Dnah7a |
C |
T |
1: 53,583,670 (GRCm39) |
E1522K |
possibly damaging |
Het |
| Edil3 |
G |
T |
13: 89,325,297 (GRCm39) |
V219F |
probably damaging |
Het |
| Egln1 |
A |
G |
8: 125,675,234 (GRCm39) |
V187A |
possibly damaging |
Het |
| Fam193a |
T |
C |
5: 34,596,722 (GRCm39) |
I455T |
possibly damaging |
Het |
| Fdft1 |
A |
T |
14: 63,400,869 (GRCm39) |
I88N |
probably damaging |
Het |
| Fem1c |
G |
A |
18: 46,638,227 (GRCm39) |
R592C |
probably benign |
Het |
| Frs2 |
T |
A |
10: 116,910,487 (GRCm39) |
S292C |
probably damaging |
Het |
| Gpr107 |
T |
A |
2: 31,062,006 (GRCm39) |
F145I |
probably benign |
Het |
| Gpr153 |
T |
A |
4: 152,363,830 (GRCm39) |
C83* |
probably null |
Het |
| H2-Q7 |
T |
G |
17: 35,659,162 (GRCm39) |
|
probably null |
Het |
| Hsp90b1 |
A |
T |
10: 86,531,612 (GRCm39) |
|
probably benign |
Het |
| Kcnk1 |
C |
A |
8: 126,752,028 (GRCm39) |
N211K |
probably damaging |
Het |
| Klb |
T |
C |
5: 65,537,070 (GRCm39) |
V800A |
probably benign |
Het |
| Lat2 |
T |
C |
5: 134,635,637 (GRCm39) |
Y59C |
probably damaging |
Het |
| Mlkl |
A |
T |
8: 112,054,433 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
| Mtbp |
T |
A |
15: 55,426,338 (GRCm39) |
C93* |
probably null |
Het |
| Myo7a |
A |
G |
7: 97,730,387 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
G |
A |
2: 181,449,180 (GRCm39) |
|
probably benign |
Het |
| Ogfrl1 |
T |
C |
1: 23,414,835 (GRCm39) |
Q224R |
possibly damaging |
Het |
| Or10j2 |
A |
G |
1: 173,098,569 (GRCm39) |
T276A |
probably benign |
Het |
| Or56b2 |
A |
T |
7: 104,338,026 (GRCm39) |
H268L |
probably damaging |
Het |
| Osbpl2 |
A |
G |
2: 179,792,083 (GRCm39) |
|
probably benign |
Het |
| Pira13 |
T |
C |
7: 3,824,781 (GRCm39) |
T533A |
possibly damaging |
Het |
| Plb1 |
C |
T |
5: 32,442,264 (GRCm39) |
T252M |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rbsn |
T |
C |
6: 92,166,674 (GRCm39) |
T657A |
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rps6kb2 |
C |
A |
19: 4,207,882 (GRCm39) |
S348I |
probably benign |
Het |
| Rsrp1 |
C |
T |
4: 134,651,568 (GRCm39) |
R111W |
unknown |
Het |
| Ryr3 |
T |
C |
2: 112,563,327 (GRCm39) |
T2933A |
probably benign |
Het |
| Scara5 |
A |
G |
14: 65,968,468 (GRCm39) |
D247G |
possibly damaging |
Het |
| Slc7a11 |
C |
T |
3: 50,378,545 (GRCm39) |
S231N |
probably benign |
Het |
| Sod2 |
A |
T |
17: 13,229,451 (GRCm39) |
N91Y |
probably damaging |
Het |
| Spesp1 |
A |
T |
9: 62,179,967 (GRCm39) |
S314T |
probably benign |
Het |
| St3gal1 |
C |
A |
15: 66,985,536 (GRCm39) |
M39I |
probably benign |
Het |
| Stat6 |
A |
T |
10: 127,494,110 (GRCm39) |
I646F |
probably damaging |
Het |
| Tdrd1 |
A |
T |
19: 56,854,410 (GRCm39) |
K1119* |
probably null |
Het |
| Thbs2 |
A |
G |
17: 14,900,077 (GRCm39) |
I600T |
probably benign |
Het |
| Tor1a |
A |
G |
2: 30,853,850 (GRCm39) |
V160A |
probably damaging |
Het |
| Trdmt1 |
T |
G |
2: 13,528,249 (GRCm39) |
D104A |
probably benign |
Het |
| Trim58 |
T |
C |
11: 58,542,219 (GRCm39) |
V393A |
probably benign |
Het |
| Trip4 |
C |
T |
9: 65,792,200 (GRCm39) |
|
probably benign |
Het |
| Trip6 |
T |
C |
5: 137,309,083 (GRCm39) |
E341G |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,545,539 (GRCm39) |
I32595F |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,155,339 (GRCm39) |
|
probably null |
Het |
| Ush2a |
G |
A |
1: 188,596,890 (GRCm39) |
V3877I |
probably benign |
Het |
| Vmn1r29 |
G |
T |
6: 58,284,717 (GRCm39) |
G146C |
probably damaging |
Het |
| Vmn2r53 |
A |
G |
7: 12,315,707 (GRCm39) |
V704A |
probably benign |
Het |
| Vmn2r7 |
C |
T |
3: 64,623,788 (GRCm39) |
M268I |
probably benign |
Het |
| Wnt7b |
G |
A |
15: 85,421,696 (GRCm39) |
T248M |
probably damaging |
Het |
| Xab2 |
G |
A |
8: 3,663,649 (GRCm39) |
P394S |
possibly damaging |
Het |
| Zfp663 |
A |
G |
2: 165,200,995 (GRCm39) |
V13A |
probably damaging |
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 |
|
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 |
|
R4332:Dhx36
|
UTSW |
3 |
62,392,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GAAGGAGCTTACACTCAGAATGACCAC -3'
(R):5'- TGAAGGGACAGTTTGCTGAGCATC -3'
Sequencing Primer
(F):5'- agcatacccacagaagcag -3'
(R):5'- aaacagaacaaaacaaaacaaaaTCG -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation