Incidental Mutation 'R8056:Dhx36'
ID |
619355 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dhx36
|
Ensembl Gene |
ENSMUSG00000027770 |
Gene Name |
DEAH-box helicase 36 |
Synonyms |
2810407E23Rik, Ddx36, RHAU |
MMRRC Submission |
067493-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8056 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
62375434-62414425 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 62396012 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 465
(L465Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029336
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029336]
|
AlphaFold |
Q8VHK9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029336
AA Change: L465Q
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000029336 Gene: ENSMUSG00000027770 AA Change: L465Q
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (75/75) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik2 |
T |
C |
11: 48,910,909 (GRCm39) |
E508G |
probably benign |
Het |
Acsl3 |
C |
T |
1: 78,659,611 (GRCm39) |
L88F |
probably damaging |
Het |
Adamtsl1 |
C |
T |
4: 86,260,269 (GRCm39) |
P835S |
possibly damaging |
Het |
Agrn |
A |
G |
4: 156,254,868 (GRCm39) |
V1616A |
probably benign |
Het |
Bmerb1 |
T |
A |
16: 13,856,180 (GRCm39) |
|
probably benign |
Het |
Brca2 |
T |
C |
5: 150,492,771 (GRCm39) |
V3262A |
possibly damaging |
Het |
Bsn |
T |
C |
9: 107,982,506 (GRCm39) |
D977G |
|
Het |
Cic |
G |
T |
7: 24,990,366 (GRCm39) |
A1956S |
possibly damaging |
Het |
Clip4 |
C |
A |
17: 72,110,587 (GRCm39) |
T189K |
probably damaging |
Het |
Col12a1 |
T |
C |
9: 79,507,220 (GRCm39) |
E279G |
|
Het |
Col24a1 |
A |
C |
3: 145,019,925 (GRCm39) |
I99L |
possibly damaging |
Het |
Cpne3 |
A |
G |
4: 19,532,426 (GRCm39) |
V329A |
possibly damaging |
Het |
Cyp17a1 |
T |
C |
19: 46,659,030 (GRCm39) |
I204V |
possibly damaging |
Het |
Cyp2c66 |
A |
G |
19: 39,130,485 (GRCm39) |
I107V |
probably benign |
Het |
Dennd4c |
A |
G |
4: 86,763,213 (GRCm39) |
R1840G |
probably null |
Het |
Edc4 |
A |
G |
8: 106,617,116 (GRCm39) |
|
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,799,896 (GRCm39) |
T2931A |
probably damaging |
Het |
Fam133b |
A |
T |
5: 3,615,744 (GRCm39) |
R215S |
unknown |
Het |
Fbh1 |
G |
A |
2: 11,748,441 (GRCm39) |
T985I |
probably benign |
Het |
Fras1 |
A |
G |
5: 96,892,633 (GRCm39) |
D2911G |
probably damaging |
Het |
Gm13889 |
A |
T |
2: 93,787,020 (GRCm39) |
D151E |
probably damaging |
Het |
Gosr2 |
C |
A |
11: 103,588,530 (GRCm39) |
|
probably benign |
Het |
Igkv8-26 |
T |
A |
6: 70,170,706 (GRCm39) |
L99H |
probably damaging |
Het |
Inhca |
A |
G |
9: 103,143,423 (GRCm39) |
C438R |
probably damaging |
Het |
Kif16b |
A |
G |
2: 142,554,762 (GRCm39) |
F679L |
probably damaging |
Het |
Kif1a |
G |
C |
1: 92,982,423 (GRCm39) |
|
probably benign |
Het |
Kif3b |
G |
C |
2: 153,171,979 (GRCm39) |
R716S |
possibly damaging |
Het |
Lilra6 |
A |
T |
7: 3,915,551 (GRCm39) |
C395S |
probably damaging |
Het |
Lrp5 |
A |
G |
19: 3,647,337 (GRCm39) |
F1302L |
probably damaging |
Het |
Map2 |
T |
G |
1: 66,454,779 (GRCm39) |
V1223G |
probably damaging |
Het |
Mical1 |
T |
A |
10: 41,357,168 (GRCm39) |
N324K |
probably damaging |
Het |
Morc3 |
T |
A |
16: 93,642,064 (GRCm39) |
H94Q |
probably benign |
Het |
Mpped1 |
T |
C |
15: 83,720,663 (GRCm39) |
V199A |
possibly damaging |
Het |
Msx1 |
G |
A |
5: 37,981,544 (GRCm39) |
T45I |
probably benign |
Het |
Myh7 |
G |
A |
14: 55,210,776 (GRCm39) |
Q1714* |
probably null |
Het |
Narf |
T |
C |
11: 121,136,170 (GRCm39) |
V182A |
possibly damaging |
Het |
Ncapd2 |
G |
A |
6: 125,148,006 (GRCm39) |
T1107M |
probably damaging |
Het |
Nek3 |
A |
G |
8: 22,619,359 (GRCm39) |
|
probably null |
Het |
Neurog1 |
G |
T |
13: 56,399,223 (GRCm39) |
P175T |
probably damaging |
Het |
Nlrp9c |
T |
C |
7: 26,085,112 (GRCm39) |
T156A |
probably damaging |
Het |
Or1ad1 |
T |
A |
11: 50,876,368 (GRCm39) |
V280E |
probably damaging |
Het |
Or2a20 |
A |
T |
6: 43,193,978 (GRCm39) |
I44F |
probably damaging |
Het |
Or6c3 |
G |
A |
10: 129,309,061 (GRCm39) |
A167T |
probably benign |
Het |
Orm3 |
A |
G |
4: 63,277,594 (GRCm39) |
E194G |
probably benign |
Het |
Pga5 |
A |
C |
19: 10,654,161 (GRCm39) |
|
probably benign |
Het |
Pik3r2 |
G |
T |
8: 71,225,011 (GRCm39) |
P151T |
probably benign |
Het |
Pkp2 |
T |
C |
16: 16,031,264 (GRCm39) |
C10R |
probably benign |
Het |
Plxdc1 |
T |
A |
11: 97,869,343 (GRCm39) |
R82W |
probably damaging |
Het |
Polr2c |
G |
A |
8: 95,586,895 (GRCm39) |
A54T |
probably benign |
Het |
Rab31 |
T |
C |
17: 66,024,503 (GRCm39) |
I59V |
probably benign |
Het |
Rasgrf2 |
T |
C |
13: 92,167,321 (GRCm39) |
M251V |
probably damaging |
Het |
Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Het |
Rfc1 |
A |
C |
5: 65,451,436 (GRCm39) |
|
probably benign |
Het |
Rhag |
T |
C |
17: 41,139,679 (GRCm39) |
I137T |
probably damaging |
Het |
Rnf216 |
T |
C |
5: 142,978,616 (GRCm39) |
M841V |
probably benign |
Het |
Scaf11 |
C |
A |
15: 96,312,698 (GRCm39) |
E1448* |
probably null |
Het |
Septin11 |
T |
C |
5: 93,315,435 (GRCm39) |
L388P |
unknown |
Het |
Serpina1b |
A |
T |
12: 103,784,137 (GRCm39) |
|
probably benign |
Het |
Skint10 |
A |
G |
4: 112,573,010 (GRCm39) |
I262T |
probably benign |
Het |
Slc13a4 |
C |
T |
6: 35,245,887 (GRCm39) |
G586E |
probably damaging |
Het |
Slc8a1 |
C |
T |
17: 81,955,352 (GRCm39) |
G562E |
probably damaging |
Het |
Slc8b1 |
T |
A |
5: 120,658,682 (GRCm39) |
L126Q |
probably damaging |
Het |
Smg1 |
A |
G |
7: 117,759,589 (GRCm39) |
Y2086H |
unknown |
Het |
Spmip10 |
A |
G |
18: 56,727,763 (GRCm39) |
N79S |
|
Het |
Taf1c |
A |
T |
8: 120,330,202 (GRCm39) |
D47E |
probably benign |
Het |
Tbx5 |
A |
C |
5: 119,991,678 (GRCm39) |
M250L |
probably benign |
Het |
Tekt3 |
T |
C |
11: 62,974,785 (GRCm39) |
|
probably null |
Het |
Topors |
T |
C |
4: 40,262,221 (GRCm39) |
I354M |
probably benign |
Het |
Ttn |
C |
A |
2: 76,778,574 (GRCm39) |
G1309V |
unknown |
Het |
Ttyh1 |
C |
T |
7: 4,127,622 (GRCm39) |
|
probably benign |
Het |
Ubac1 |
A |
G |
2: 25,897,909 (GRCm39) |
I237T |
probably benign |
Het |
Vmn1r197 |
T |
A |
13: 22,512,388 (GRCm39) |
V103D |
probably damaging |
Het |
Zfp184 |
T |
C |
13: 22,143,008 (GRCm39) |
F238S |
probably damaging |
Het |
Zfp445 |
A |
G |
9: 122,681,032 (GRCm39) |
F970L |
possibly damaging |
Het |
Zfp90 |
A |
T |
8: 107,151,112 (GRCm39) |
E275V |
probably damaging |
Het |
Zscan12 |
C |
G |
13: 21,553,492 (GRCm39) |
Q439E |
probably benign |
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 |
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 |
|
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'- TCCATGCACACTTAAATTCTCG -3'
(R):5'- TCTTCTCTGGAGACGTTTGC -3'
Sequencing Primer
(F):5'- TTCTCGTTAAAATTAGAGTAGCTCTG -3'
(R):5'- AGACGTTTGCTCTTATGCAGAC -3'
|
Posted On |
2020-01-23 |