Incidental Mutation 'R9098:Dhx36'
| ID |
691456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhx36
|
| Ensembl Gene |
ENSMUSG00000027770 |
| Gene Name |
DEAH-box helicase 36 |
| Synonyms |
2810407E23Rik, Ddx36, RHAU |
| MMRRC Submission |
068913-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9098 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
62375434-62414425 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 62414141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 74
(E74*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029336]
|
| AlphaFold |
Q8VHK9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029336
AA Change: E74*
|
| SMART Domains |
Protein: ENSMUSP00000029336
Gene: ENSMUSG00000027770
AA Change: E74*
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
97% (72/74) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
T |
1: 11,633,211 (GRCm39) |
D168V |
probably damaging |
Het |
| Abcb4 |
A |
T |
5: 9,008,441 (GRCm39) |
D1203V |
probably damaging |
Het |
| Acat2 |
G |
A |
17: 13,178,979 (GRCm39) |
|
probably benign |
Het |
| Adam3 |
C |
T |
8: 25,179,484 (GRCm39) |
C611Y |
probably damaging |
Het |
| Adgrb1 |
A |
G |
15: 74,415,189 (GRCm39) |
D638G |
probably damaging |
Het |
| Adra1b |
T |
C |
11: 43,667,218 (GRCm39) |
N340D |
probably damaging |
Het |
| Ankrd31 |
A |
G |
13: 96,916,879 (GRCm39) |
H131R |
probably damaging |
Het |
| Aoc2 |
T |
C |
11: 101,217,164 (GRCm39) |
S416P |
possibly damaging |
Het |
| Armc8 |
G |
A |
9: 99,387,362 (GRCm39) |
R419* |
probably null |
Het |
| Atp6v1h |
T |
G |
1: 5,163,638 (GRCm39) |
V90G |
probably damaging |
Het |
| Avl9 |
T |
C |
6: 56,707,628 (GRCm39) |
V191A |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,990,173 (GRCm39) |
P1860S |
possibly damaging |
Het |
| Btd |
A |
G |
14: 31,384,233 (GRCm39) |
K73R |
probably benign |
Het |
| Cd22 |
T |
C |
7: 30,567,391 (GRCm39) |
K731R |
probably benign |
Het |
| Chmp7 |
C |
A |
14: 69,956,911 (GRCm39) |
L332F |
probably damaging |
Het |
| Cirop |
T |
G |
14: 54,932,686 (GRCm39) |
S393R |
probably damaging |
Het |
| Cldn11 |
A |
G |
3: 31,217,276 (GRCm39) |
E148G |
probably damaging |
Het |
| Cmtm1 |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
8: 105,036,334 (GRCm39) |
|
probably null |
Het |
| Cnbd1 |
A |
T |
4: 18,886,061 (GRCm39) |
Y319* |
probably null |
Het |
| Cnnm4 |
A |
G |
1: 36,511,170 (GRCm39) |
T133A |
probably benign |
Het |
| Cpeb4 |
A |
T |
11: 31,822,679 (GRCm39) |
E131V |
probably benign |
Het |
| Ctns |
A |
G |
11: 73,078,561 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
G |
15: 28,420,107 (GRCm39) |
T3802A |
|
Het |
| Fbxo31 |
G |
A |
8: 122,281,136 (GRCm39) |
R337C |
probably damaging |
Het |
| Flnc |
C |
T |
6: 29,455,518 (GRCm39) |
Q2056* |
probably null |
Het |
| Fmo9 |
T |
C |
1: 166,492,199 (GRCm39) |
D408G |
possibly damaging |
Het |
| Gipr |
C |
T |
7: 18,897,495 (GRCm39) |
S117N |
unknown |
Het |
| Gm14412 |
T |
A |
2: 177,006,356 (GRCm39) |
H513L |
probably damaging |
Het |
| Gm21663 |
G |
C |
5: 26,147,167 (GRCm39) |
C46W |
probably benign |
Het |
| Gucy1a2 |
A |
T |
9: 3,634,489 (GRCm39) |
I178L |
probably benign |
Het |
| Htr1b |
A |
T |
9: 81,514,481 (GRCm39) |
L42Q |
|
Het |
| Htr2b |
T |
C |
1: 86,027,481 (GRCm39) |
T342A |
probably damaging |
Het |
| Jkampl |
T |
C |
6: 73,446,517 (GRCm39) |
T11A |
probably benign |
Het |
| Jph2 |
C |
T |
2: 163,181,473 (GRCm39) |
V564M |
probably damaging |
Het |
| Kcnmb1 |
A |
G |
11: 33,914,806 (GRCm39) |
T36A |
probably damaging |
Het |
| Krit1 |
A |
C |
5: 3,863,135 (GRCm39) |
K310N |
probably benign |
Het |
| Lama1 |
C |
T |
17: 68,111,508 (GRCm39) |
T2253M |
|
Het |
| Lpar6 |
C |
T |
14: 73,476,233 (GRCm39) |
L65F |
probably damaging |
Het |
| Megf6 |
G |
A |
4: 154,354,160 (GRCm39) |
G1355R |
probably damaging |
Het |
| Mmp3 |
T |
A |
9: 7,446,936 (GRCm39) |
Y39N |
probably damaging |
Het |
| Mrtfb |
A |
G |
16: 13,221,053 (GRCm39) |
H743R |
probably benign |
Het |
| Ms4a18 |
C |
A |
19: 10,990,741 (GRCm39) |
V118F |
|
Het |
| Mthfr |
G |
A |
4: 148,126,082 (GRCm39) |
S51N |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,554,975 (GRCm39) |
T3773S |
unknown |
Het |
| Mus81 |
T |
A |
19: 5,534,032 (GRCm39) |
K400* |
probably null |
Het |
| Naaladl2 |
A |
T |
3: 24,487,344 (GRCm39) |
D192E |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,366,127 (GRCm39) |
D329G |
possibly damaging |
Het |
| Nek11 |
T |
A |
9: 105,170,856 (GRCm39) |
H393L |
probably benign |
Het |
| Nmt2 |
T |
A |
2: 3,306,315 (GRCm39) |
|
probably benign |
Het |
| Nmur2 |
T |
C |
11: 55,920,408 (GRCm39) |
D279G |
possibly damaging |
Het |
| Nol4l |
C |
A |
2: 153,312,630 (GRCm39) |
R226L |
probably damaging |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or10d4c |
A |
G |
9: 39,558,379 (GRCm39) |
D119G |
probably damaging |
Het |
| Or1o2 |
T |
C |
17: 37,542,961 (GRCm39) |
Y100C |
probably benign |
Het |
| Or5ak22 |
T |
C |
2: 85,229,995 (GRCm39) |
N294S |
probably damaging |
Het |
| Palm |
A |
G |
10: 79,654,988 (GRCm39) |
T249A |
probably benign |
Het |
| Pramel22 |
A |
T |
4: 143,381,097 (GRCm39) |
Y309N |
probably benign |
Het |
| Rhobtb3 |
A |
G |
13: 76,087,702 (GRCm39) |
I95T |
probably damaging |
Het |
| Rnpep |
A |
T |
1: 135,206,559 (GRCm39) |
F178L |
possibly damaging |
Het |
| Rsl1d1 |
A |
G |
16: 11,019,227 (GRCm39) |
S105P |
probably damaging |
Het |
| Rxra |
C |
T |
2: 27,638,756 (GRCm39) |
T253I |
possibly damaging |
Het |
| Schip1 |
A |
G |
3: 67,972,318 (GRCm39) |
D15G |
|
Het |
| Sis |
T |
A |
3: 72,844,578 (GRCm39) |
I719F |
possibly damaging |
Het |
| Snx18 |
A |
G |
13: 113,754,310 (GRCm39) |
S208P |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,151,816 (GRCm39) |
V2125A |
probably damaging |
Het |
| Stx7 |
C |
T |
10: 24,058,724 (GRCm39) |
Q199* |
probably null |
Het |
| Syt6 |
T |
C |
3: 103,492,895 (GRCm39) |
I134T |
probably damaging |
Het |
| Tlr12 |
A |
G |
4: 128,510,870 (GRCm39) |
M460T |
probably benign |
Het |
| Tnni3k |
T |
C |
3: 154,647,314 (GRCm39) |
T398A |
possibly damaging |
Het |
| Tspan4 |
T |
C |
7: 141,071,816 (GRCm39) |
S188P |
probably benign |
Het |
| Ubap2l |
A |
G |
3: 89,909,756 (GRCm39) |
S1025P |
unknown |
Het |
| Ubl7 |
A |
G |
9: 57,829,035 (GRCm39) |
D219G |
probably benign |
Het |
| Vmn2r115 |
C |
A |
17: 23,564,803 (GRCm39) |
T230K |
probably benign |
Het |
| Vmn2r95 |
T |
A |
17: 18,660,167 (GRCm39) |
M193K |
possibly damaging |
Het |
| Zfp639 |
A |
G |
3: 32,573,885 (GRCm39) |
E170G |
probably damaging |
Het |
| Zfy1 |
A |
G |
Y: 725,987 (GRCm39) |
S593P |
possibly damaging |
Het |
| Zscan4-ps1 |
T |
A |
7: 10,799,495 (GRCm39) |
T465S |
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 |
|
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 |
|
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'- TAGCATTCACCCTCAGTTCAG -3'
(R):5'- GCTACGACTATCATCAGAGCTG -3'
Sequencing Primer
(F):5'- GTTCTCAAGTCCGTAAACAGAGCATG -3'
(R):5'- GACTATCATCAGAGCTGGAGCC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation