Incidental Mutation 'R4866:Dhx36'
| ID |
374894 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhx36
|
| Ensembl Gene |
ENSMUSG00000027770 |
| Gene Name |
DEAH-box helicase 36 |
| Synonyms |
2810407E23Rik, Ddx36, RHAU |
| MMRRC Submission |
042476-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4866 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
62375434-62414425 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62380198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 833
(Y833N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029336]
|
| AlphaFold |
Q8VHK9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029336
AA Change: Y833N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029336
Gene: ENSMUSG00000027770
AA Change: Y833N
| 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 |
0.9625 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
99% (79/80) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
C |
T |
17: 24,593,274 (GRCm39) |
R224C |
probably damaging |
Het |
| Abcc5 |
A |
T |
16: 20,241,182 (GRCm39) |
M1K |
probably null |
Het |
| Ablim2 |
C |
T |
5: 35,959,766 (GRCm39) |
R73C |
possibly damaging |
Het |
| Adam5 |
A |
C |
8: 25,232,172 (GRCm39) |
|
probably null |
Het |
| Adam5 |
G |
A |
8: 25,271,619 (GRCm39) |
T596I |
probably damaging |
Het |
| Apoa2 |
T |
C |
1: 171,053,369 (GRCm39) |
|
probably null |
Het |
| Atad1 |
A |
T |
19: 32,679,964 (GRCm39) |
H79Q |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 59,928,916 (GRCm39) |
D1046G |
probably damaging |
Het |
| Bcam |
A |
G |
7: 19,499,397 (GRCm39) |
Y209H |
probably benign |
Het |
| Brpf1 |
G |
A |
6: 113,299,431 (GRCm39) |
V1120I |
probably damaging |
Het |
| Catsperb |
G |
A |
12: 101,474,208 (GRCm39) |
C302Y |
probably damaging |
Het |
| Cbl |
A |
G |
9: 44,064,166 (GRCm39) |
V790A |
probably benign |
Het |
| Ccdc60 |
T |
C |
5: 116,310,549 (GRCm39) |
D171G |
probably damaging |
Het |
| Cd300c2 |
A |
T |
11: 114,891,807 (GRCm39) |
C22* |
probably null |
Het |
| Cdan1 |
C |
A |
2: 120,561,928 (GRCm39) |
|
probably benign |
Het |
| Cdk5rap1 |
C |
T |
2: 154,212,876 (GRCm39) |
|
probably null |
Het |
| Cfap410 |
T |
A |
10: 77,817,413 (GRCm39) |
|
probably null |
Het |
| Cfap65 |
T |
C |
1: 74,964,716 (GRCm39) |
D479G |
probably damaging |
Het |
| Cmbl |
A |
G |
15: 31,585,490 (GRCm39) |
K113E |
probably benign |
Het |
| Cog6 |
G |
A |
3: 52,918,019 (GRCm39) |
T173I |
probably benign |
Het |
| Cts6 |
T |
A |
13: 61,350,090 (GRCm39) |
|
probably null |
Het |
| Cyp11a1 |
G |
A |
9: 57,933,380 (GRCm39) |
V413M |
probably damaging |
Het |
| Cyp2c39 |
G |
A |
19: 39,502,020 (GRCm39) |
M136I |
probably benign |
Het |
| Dclre1b |
A |
T |
3: 103,715,412 (GRCm39) |
Y29N |
probably damaging |
Het |
| Depdc1a |
T |
A |
3: 159,221,764 (GRCm39) |
I236K |
probably damaging |
Het |
| Dop1b |
G |
T |
16: 93,560,318 (GRCm39) |
|
probably null |
Het |
| Elovl3 |
A |
G |
19: 46,120,603 (GRCm39) |
E32G |
possibly damaging |
Het |
| Entrep1 |
A |
G |
19: 23,952,790 (GRCm39) |
S507P |
possibly damaging |
Het |
| Epcam |
T |
C |
17: 87,951,049 (GRCm39) |
V212A |
possibly damaging |
Het |
| Fcrl2 |
A |
T |
3: 87,170,773 (GRCm39) |
C4S |
possibly damaging |
Het |
| Galnt16 |
T |
C |
12: 80,630,851 (GRCm39) |
Y310H |
probably damaging |
Het |
| Gm12789 |
G |
A |
4: 101,846,182 (GRCm39) |
|
probably benign |
Het |
| Gspt1 |
C |
T |
16: 11,040,529 (GRCm39) |
R593H |
possibly damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,279,403 (GRCm39) |
T1802S |
possibly damaging |
Het |
| Igha |
A |
G |
12: 113,223,129 (GRCm39) |
V166A |
probably benign |
Het |
| Itfg2 |
A |
G |
6: 128,393,279 (GRCm39) |
|
probably benign |
Het |
| Jund |
T |
C |
8: 71,152,254 (GRCm39) |
V183A |
probably damaging |
Het |
| Katnb1 |
T |
C |
8: 95,824,132 (GRCm39) |
S471P |
possibly damaging |
Het |
| Kazn |
A |
G |
4: 141,832,216 (GRCm39) |
F661S |
unknown |
Het |
| Kif19a |
G |
A |
11: 114,658,053 (GRCm39) |
M37I |
probably benign |
Het |
| Lgr5 |
C |
T |
10: 115,288,590 (GRCm39) |
V661I |
probably benign |
Het |
| Lvrn |
G |
T |
18: 47,026,768 (GRCm39) |
A789S |
probably damaging |
Het |
| Mapk10 |
T |
C |
5: 103,111,391 (GRCm39) |
D351G |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,794,535 (GRCm39) |
C2622S |
possibly damaging |
Het |
| Mios |
T |
G |
6: 8,214,857 (GRCm39) |
F18V |
probably damaging |
Het |
| Mllt6 |
A |
G |
11: 97,565,285 (GRCm39) |
D575G |
probably damaging |
Het |
| Mmp10 |
G |
A |
9: 7,508,190 (GRCm39) |
V439M |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,139,453 (GRCm39) |
D590G |
probably benign |
Het |
| Ndufs2 |
C |
T |
1: 171,074,618 (GRCm39) |
G14R |
probably benign |
Het |
| Or10ad1b |
T |
A |
15: 98,125,371 (GRCm39) |
I52F |
probably damaging |
Het |
| Or51a7 |
A |
T |
7: 102,614,927 (GRCm39) |
M207L |
probably benign |
Het |
| Or56a4 |
T |
C |
7: 104,806,514 (GRCm39) |
Y125C |
possibly damaging |
Het |
| Or8g26 |
A |
G |
9: 39,096,367 (GRCm39) |
K298E |
probably damaging |
Het |
| Plau |
G |
T |
14: 20,887,872 (GRCm39) |
V39L |
probably benign |
Het |
| Ppp3cb |
A |
G |
14: 20,573,911 (GRCm39) |
C275R |
probably damaging |
Het |
| Ppp4r4 |
T |
G |
12: 103,566,706 (GRCm39) |
M51R |
possibly damaging |
Het |
| Prr5 |
A |
G |
15: 84,626,105 (GRCm39) |
Y60C |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,402,159 (GRCm39) |
D1023G |
probably damaging |
Het |
| Raly |
T |
A |
2: 154,703,816 (GRCm39) |
V129E |
probably damaging |
Het |
| Rsph10b |
A |
G |
5: 143,885,347 (GRCm39) |
E249G |
probably benign |
Het |
| Sart1 |
A |
C |
19: 5,432,248 (GRCm39) |
L577W |
probably damaging |
Het |
| Senp1 |
T |
C |
15: 97,964,729 (GRCm39) |
E189G |
possibly damaging |
Het |
| Slc22a2 |
G |
T |
17: 12,803,316 (GRCm39) |
C50F |
probably damaging |
Het |
| Spem1 |
A |
T |
11: 69,711,755 (GRCm39) |
V303E |
probably damaging |
Het |
| Tgfb3 |
A |
G |
12: 86,124,588 (GRCm39) |
V40A |
possibly damaging |
Het |
| Ttl |
T |
C |
2: 128,923,147 (GRCm39) |
S163P |
probably damaging |
Het |
| Ttll9 |
C |
A |
2: 152,844,920 (GRCm39) |
N429K |
probably benign |
Het |
| Uggt1 |
G |
A |
1: 36,241,936 (GRCm39) |
R333* |
probably null |
Het |
| Zfhx2 |
A |
G |
14: 55,302,993 (GRCm39) |
S1664P |
possibly damaging |
Het |
| Zfp51 |
T |
A |
17: 21,682,012 (GRCm39) |
D70E |
possibly damaging |
Het |
| Zfp592 |
T |
A |
7: 80,691,607 (GRCm39) |
V1262E |
probably damaging |
Het |
| Zfp595 |
C |
A |
13: 67,465,760 (GRCm39) |
G168C |
probably damaging |
Het |
| Zswim9 |
A |
T |
7: 12,995,095 (GRCm39) |
S354T |
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 |
|
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 |
|
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 |
|
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'- GACAGATCCCTATGTTCACCG -3'
(R):5'- TGAGCATCTTCTTGGAGCTG -3'
Sequencing Primer
(F):5'- ACAGATCCCTATGTTCACCGATTCC -3'
(R):5'- CTGGATTTGTAAGCAGTAGAAGTCCC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation