Incidental Mutation 'R6433:Dhx36'
| ID |
518626 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhx36
|
| Ensembl Gene |
ENSMUSG00000027770 |
| Gene Name |
DEAH-box helicase 36 |
| Synonyms |
2810407E23Rik, Ddx36, RHAU |
| MMRRC Submission |
044571-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6433 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
62375434-62414425 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62392395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 544
(T544A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029336]
|
| AlphaFold |
Q8VHK9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029336
AA Change: T544A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029336
Gene: ENSMUSG00000027770
AA Change: T544A
| 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 |
0.9715 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (56/56) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
T |
A |
17: 14,101,561 (GRCm39) |
D1016E |
probably damaging |
Het |
| Aplnr |
A |
T |
2: 84,967,017 (GRCm39) |
Q14L |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,401,421 (GRCm39) |
L1147S |
probably damaging |
Het |
| Atad2b |
A |
G |
12: 5,002,642 (GRCm39) |
T337A |
possibly damaging |
Het |
| Atrn |
A |
G |
2: 130,864,947 (GRCm39) |
E1358G |
probably damaging |
Het |
| Caml |
C |
A |
13: 55,771,062 (GRCm39) |
S53R |
possibly damaging |
Het |
| Cd180 |
T |
G |
13: 102,842,141 (GRCm39) |
S396A |
probably benign |
Het |
| Cdhr2 |
A |
G |
13: 54,866,325 (GRCm39) |
T344A |
probably damaging |
Het |
| Cyp4a31 |
A |
C |
4: 115,427,466 (GRCm39) |
D224A |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,479,222 (GRCm39) |
K1528E |
probably damaging |
Het |
| Dnpep |
T |
A |
1: 75,292,022 (GRCm39) |
K199N |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,184,232 (GRCm39) |
|
probably null |
Het |
| Efl1 |
T |
A |
7: 82,323,776 (GRCm39) |
D239E |
probably damaging |
Het |
| Elovl4 |
A |
G |
9: 83,667,231 (GRCm39) |
V42A |
possibly damaging |
Het |
| Exoc3 |
T |
C |
13: 74,337,306 (GRCm39) |
T432A |
possibly damaging |
Het |
| Fam98c |
A |
G |
7: 28,855,553 (GRCm39) |
|
probably null |
Het |
| Fbln2 |
G |
A |
6: 91,210,254 (GRCm39) |
G66D |
probably damaging |
Het |
| Fchsd1 |
G |
A |
18: 38,097,137 (GRCm39) |
T410I |
possibly damaging |
Het |
| Flcn |
T |
C |
11: 59,691,908 (GRCm39) |
D247G |
probably damaging |
Het |
| Galnt16 |
T |
C |
12: 80,622,677 (GRCm39) |
V127A |
probably benign |
Het |
| H2-Ob |
A |
T |
17: 34,462,860 (GRCm39) |
|
probably null |
Het |
| Has2 |
G |
A |
15: 56,531,194 (GRCm39) |
S507F |
possibly damaging |
Het |
| Ido2 |
T |
A |
8: 25,023,939 (GRCm39) |
M300L |
probably damaging |
Het |
| Itga10 |
T |
C |
3: 96,565,357 (GRCm39) |
|
probably null |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Mfsd2a |
A |
G |
4: 122,844,250 (GRCm39) |
V299A |
probably benign |
Het |
| Mybpc1 |
T |
C |
10: 88,396,217 (GRCm39) |
D210G |
probably damaging |
Het |
| Ndrg1 |
A |
T |
15: 66,805,721 (GRCm39) |
M128K |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,942,384 (GRCm39) |
T5091S |
probably benign |
Het |
| Or2j3 |
A |
G |
17: 38,616,304 (GRCm39) |
L16P |
probably damaging |
Het |
| Pex5 |
A |
T |
6: 124,390,572 (GRCm39) |
M91K |
possibly damaging |
Het |
| Phlpp2 |
G |
T |
8: 110,661,317 (GRCm39) |
A810S |
probably benign |
Het |
| Pla2g7 |
G |
C |
17: 43,910,017 (GRCm39) |
A174P |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,192,613 (GRCm39) |
V783M |
probably damaging |
Het |
| Poll |
A |
T |
19: 45,542,043 (GRCm39) |
M421K |
probably benign |
Het |
| Ppfia2 |
C |
A |
10: 106,749,559 (GRCm39) |
S1148R |
possibly damaging |
Het |
| Prkg1 |
A |
G |
19: 30,758,746 (GRCm39) |
F280S |
probably benign |
Het |
| Rdh10 |
G |
A |
1: 16,178,079 (GRCm39) |
C117Y |
probably damaging |
Het |
| Rtl1 |
C |
A |
12: 109,561,630 (GRCm39) |
A70S |
unknown |
Het |
| Scgb2b3 |
A |
T |
7: 31,058,492 (GRCm39) |
L104I |
probably benign |
Het |
| Sh3tc1 |
T |
C |
5: 35,863,941 (GRCm39) |
R749G |
probably damaging |
Het |
| Skint4 |
A |
G |
4: 112,003,707 (GRCm39) |
K380R |
probably benign |
Het |
| Smtnl1 |
A |
C |
2: 84,648,712 (GRCm39) |
S181A |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,864,999 (GRCm39) |
S716P |
probably damaging |
Het |
| Spc25 |
A |
G |
2: 69,036,446 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
C |
T |
10: 86,737,431 (GRCm39) |
|
probably null |
Het |
| Timm22 |
T |
C |
11: 76,300,570 (GRCm39) |
V114A |
possibly damaging |
Het |
| Timp4 |
A |
G |
6: 115,224,181 (GRCm39) |
C163R |
probably damaging |
Het |
| Toporsl |
T |
A |
4: 52,611,548 (GRCm39) |
N480K |
possibly damaging |
Het |
| Tpo |
T |
C |
12: 30,134,753 (GRCm39) |
E735G |
probably benign |
Het |
| Trpm3 |
A |
G |
19: 22,878,669 (GRCm39) |
D692G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,582,058 (GRCm39) |
H22945R |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,454,801 (GRCm39) |
Y499* |
probably null |
Het |
| Vwa1 |
G |
A |
4: 155,857,226 (GRCm39) |
H191Y |
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 |
|
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'- ATAGCGCTATATCAGTTCCCATG -3'
(R):5'- ATGATAGACCAGTGCACAAGATAC -3'
Sequencing Primer
(F):5'- CAGTTCCCATGATTCTTTAGAGAAG -3'
(R):5'- ATGCTAAAATGATCACTATCTC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation