Incidental Mutation 'R2257:Dhx36'
| ID |
243429 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhx36
|
| Ensembl Gene |
ENSMUSG00000027770 |
| Gene Name |
DEAH-box helicase 36 |
| Synonyms |
2810407E23Rik, Ddx36, RHAU |
| MMRRC Submission |
040257-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2257 (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 62385064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 683
(G683S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029336]
|
| AlphaFold |
Q8VHK9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029336
AA Change: G683S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029336
Gene: ENSMUSG00000027770
AA Change: G683S
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
96% (70/73) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
A |
T |
X: 69,438,012 (GRCm39) |
W94R |
probably damaging |
Het |
| Abcc3 |
C |
T |
11: 94,254,420 (GRCm39) |
V693M |
probably damaging |
Het |
| Acp7 |
A |
C |
7: 28,313,838 (GRCm39) |
W399G |
probably damaging |
Het |
| Ap1s1 |
T |
C |
5: 137,070,633 (GRCm39) |
Y94C |
possibly damaging |
Het |
| Arhgap32 |
T |
C |
9: 32,158,793 (GRCm39) |
I186T |
probably damaging |
Het |
| Atg4a |
A |
G |
X: 139,890,984 (GRCm39) |
I91V |
probably benign |
Het |
| Atp7b |
T |
G |
8: 22,488,282 (GRCm39) |
T1102P |
probably damaging |
Het |
| Cabs1 |
T |
C |
5: 88,128,074 (GRCm39) |
S242P |
probably damaging |
Het |
| Cass4 |
T |
C |
2: 172,269,390 (GRCm39) |
F493L |
probably damaging |
Het |
| Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
| Cdk14 |
T |
A |
5: 4,938,924 (GRCm39) |
M433L |
probably benign |
Het |
| Cep162 |
C |
A |
9: 87,088,967 (GRCm39) |
D972Y |
probably damaging |
Het |
| Cfap100 |
C |
G |
6: 90,390,802 (GRCm39) |
R184P |
possibly damaging |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Clasrp |
A |
G |
7: 19,320,510 (GRCm39) |
|
probably benign |
Het |
| Copb1 |
T |
A |
7: 113,853,110 (GRCm39) |
D29V |
possibly damaging |
Het |
| Cyp2b9 |
G |
A |
7: 25,873,030 (GRCm39) |
|
probably null |
Het |
| Dnaaf11 |
T |
A |
15: 66,309,436 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
T |
A |
5: 124,838,301 (GRCm39) |
I1110N |
probably damaging |
Het |
| Dnajc3 |
C |
G |
14: 119,210,114 (GRCm39) |
P322A |
probably benign |
Het |
| Eml4 |
A |
G |
17: 83,785,189 (GRCm39) |
T785A |
probably damaging |
Het |
| Fam228a |
T |
C |
12: 4,787,775 (GRCm39) |
|
probably benign |
Het |
| Fam83e |
A |
T |
7: 45,378,193 (GRCm39) |
K406* |
probably null |
Het |
| Fam83e |
A |
T |
7: 45,378,194 (GRCm39) |
K406M |
possibly damaging |
Het |
| Fam90a1a |
T |
A |
8: 22,453,533 (GRCm39) |
L296Q |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,403,408 (GRCm39) |
Y53C |
probably damaging |
Het |
| Fcrl2 |
T |
C |
3: 87,166,928 (GRCm39) |
I22V |
probably damaging |
Het |
| Fryl |
T |
A |
5: 73,230,187 (GRCm39) |
N1657Y |
possibly damaging |
Het |
| Greb1l |
A |
G |
18: 10,503,307 (GRCm39) |
M453V |
possibly damaging |
Het |
| Grm8 |
A |
T |
6: 27,760,224 (GRCm39) |
C369S |
probably damaging |
Het |
| Hdc |
G |
A |
2: 126,458,000 (GRCm39) |
|
probably null |
Het |
| Hsf3 |
A |
T |
X: 95,363,928 (GRCm39) |
L191* |
probably null |
Het |
| Iqca1l |
C |
T |
5: 24,757,038 (GRCm39) |
|
probably benign |
Het |
| Kif4 |
A |
T |
X: 99,769,737 (GRCm39) |
N1126Y |
probably benign |
Het |
| Lat2 |
T |
C |
5: 134,631,481 (GRCm39) |
D191G |
probably damaging |
Het |
| Lipt2 |
C |
T |
7: 99,808,601 (GRCm39) |
T38I |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,137,566 (GRCm39) |
L634P |
probably damaging |
Het |
| Magea2 |
A |
T |
X: 153,810,855 (GRCm39) |
L243Q |
probably damaging |
Het |
| Mctp2 |
A |
G |
7: 71,835,568 (GRCm39) |
L543P |
probably damaging |
Het |
| Mgat4a |
T |
C |
1: 37,529,394 (GRCm39) |
N24D |
probably benign |
Het |
| Mical3 |
A |
T |
6: 121,010,696 (GRCm39) |
S429T |
possibly damaging |
Het |
| Mrps35 |
A |
G |
6: 146,972,125 (GRCm39) |
E256G |
possibly damaging |
Het |
| Mybbp1a |
T |
A |
11: 72,337,021 (GRCm39) |
S586T |
probably benign |
Het |
| Myo1e |
G |
A |
9: 70,285,655 (GRCm39) |
|
probably null |
Het |
| Nob1 |
A |
G |
8: 108,143,729 (GRCm39) |
|
probably benign |
Het |
| Nom1 |
T |
A |
5: 29,642,750 (GRCm39) |
V417D |
probably damaging |
Het |
| Nphs1 |
A |
T |
7: 30,167,417 (GRCm39) |
I782F |
possibly damaging |
Het |
| Numa1 |
A |
G |
7: 101,649,998 (GRCm39) |
E1243G |
probably damaging |
Het |
| Or52e7 |
A |
G |
7: 104,685,026 (GRCm39) |
Y207C |
probably benign |
Het |
| Or7g27 |
A |
G |
9: 19,249,789 (GRCm39) |
E11G |
probably benign |
Het |
| Padi4 |
G |
A |
4: 140,487,251 (GRCm39) |
T217I |
possibly damaging |
Het |
| Pias3 |
C |
T |
3: 96,606,962 (GRCm39) |
T75I |
probably benign |
Het |
| Ppp1r37 |
G |
T |
7: 19,295,943 (GRCm39) |
|
probably benign |
Het |
| Prrc2a |
G |
A |
17: 35,380,044 (GRCm39) |
P185L |
unknown |
Het |
| Prss57 |
C |
T |
10: 79,623,204 (GRCm39) |
C81Y |
probably damaging |
Het |
| Psen1 |
C |
T |
12: 83,761,594 (GRCm39) |
S132L |
probably damaging |
Het |
| Ranbp6 |
A |
G |
19: 29,788,949 (GRCm39) |
S468P |
possibly damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Slc2a9 |
T |
C |
5: 38,610,542 (GRCm39) |
T86A |
probably damaging |
Het |
| Slco1a6 |
A |
T |
6: 142,036,742 (GRCm39) |
M555K |
probably benign |
Het |
| Thoc1 |
C |
A |
18: 9,993,466 (GRCm39) |
D608E |
possibly damaging |
Het |
| Tmem121b |
A |
T |
6: 120,469,030 (GRCm39) |
Y562* |
probably null |
Het |
| Tmem121b |
A |
G |
6: 120,469,032 (GRCm39) |
Y562H |
probably damaging |
Het |
| Tmprss7 |
A |
T |
16: 45,506,696 (GRCm39) |
M122K |
possibly damaging |
Het |
| Tmub1 |
C |
A |
5: 24,651,922 (GRCm39) |
G14V |
possibly damaging |
Het |
| Uap1 |
A |
T |
1: 169,986,312 (GRCm39) |
|
probably benign |
Het |
| Ugdh |
A |
T |
5: 65,574,458 (GRCm39) |
|
probably benign |
Het |
| Vmn2r59 |
A |
T |
7: 41,661,669 (GRCm39) |
C715* |
probably null |
Het |
| Vps13a |
G |
A |
19: 16,659,538 (GRCm39) |
T1663I |
possibly damaging |
Het |
| Vps13c |
A |
C |
9: 67,860,228 (GRCm39) |
I2815L |
possibly damaging |
Het |
| Zc3h3 |
G |
T |
15: 75,711,415 (GRCm39) |
Q349K |
possibly 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 |
|
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'- AAAGCGCACATCCCCGTTTC -3'
(R):5'- ACCACTGGGAATTTAATCTCTGGC -3'
Sequencing Primer
(F):5'- CTGTCTCTCTTACCAATGGAATGAC -3'
(R):5'- CTGGGAATTTAATCTCTGGCATAAC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation