Incidental Mutation 'R0525:Dhx8'
| ID |
48863 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhx8
|
| Ensembl Gene |
ENSMUSG00000034931 |
| Gene Name |
DEAH-box helicase 8 |
| Synonyms |
RNA helicase, Ddx8, mDEAH6 |
| MMRRC Submission |
038718-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R0525 (G1)
|
| Quality Score |
200 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
101623782-101658184 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 101654754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 1014
(C1014Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039152]
[ENSMUST00000129741]
|
| AlphaFold |
A2A4P0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039152
AA Change: C1014Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037251
Gene: ENSMUSG00000034931
AA Change: C1014Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
8 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
240 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
254 |
N/A |
INTRINSIC |
|
S1
|
287 |
360 |
3.52e-18 |
SMART |
|
low complexity region
|
453 |
469 |
N/A |
INTRINSIC |
|
coiled coil region
|
496 |
525 |
N/A |
INTRINSIC |
|
DEXDc
|
587 |
771 |
7.26e-33 |
SMART |
|
HELICc
|
815 |
919 |
7.45e-21 |
SMART |
|
HA2
|
980 |
1070 |
1.34e-38 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129741
AA Change: C961Y
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000119430
Gene: ENSMUSG00000034931
AA Change: C961Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
8 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
187 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
201 |
N/A |
INTRINSIC |
|
S1
|
234 |
307 |
3.52e-18 |
SMART |
|
low complexity region
|
400 |
416 |
N/A |
INTRINSIC |
|
coiled coil region
|
443 |
472 |
N/A |
INTRINSIC |
|
DEXDc
|
534 |
718 |
7.26e-33 |
SMART |
|
HELICc
|
762 |
866 |
7.45e-21 |
SMART |
|
HA2
|
927 |
1017 |
1.34e-38 |
SMART |
|
| Meta Mutation Damage Score |
0.8875 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
100% (72/72) |
| 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 polypeptide family. The encoded protein contains the DEAH (Asp-Glu-Ala-His) motif which is characteristic of all DEAH box proteins, and is thought to function as an ATP-dependent RNA helicase that regulates the release of spliced mRNAs from spliceosomes prior to their export from the nucleus. This protein may be required for the replication of human immunodeficiency virus type 1 (HIV-1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933440M02Rik |
T |
A |
7: 124,930,671 (GRCm39) |
|
noncoding transcript |
Het |
| A930002H24Rik |
A |
G |
17: 64,170,642 (GRCm39) |
W49R |
unknown |
Het |
| Abca13 |
G |
A |
11: 9,243,371 (GRCm39) |
V1745M |
probably damaging |
Het |
| Abca16 |
T |
G |
7: 120,065,033 (GRCm39) |
Y563* |
probably null |
Het |
| Acot12 |
C |
T |
13: 91,908,186 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
G |
A |
6: 85,564,742 (GRCm39) |
A39T |
unknown |
Het |
| Arid5b |
T |
C |
10: 67,933,676 (GRCm39) |
D742G |
possibly damaging |
Het |
| Atp1a4 |
G |
A |
1: 172,067,255 (GRCm39) |
|
probably benign |
Het |
| AU021092 |
T |
A |
16: 5,035,725 (GRCm39) |
E145V |
possibly damaging |
Het |
| Calr4 |
A |
T |
4: 109,099,461 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
T |
A |
17: 72,106,093 (GRCm39) |
|
probably null |
Het |
| Cnpy4 |
A |
T |
5: 138,190,878 (GRCm39) |
H180L |
probably benign |
Het |
| Cyp2j9 |
T |
C |
4: 96,467,802 (GRCm39) |
|
probably null |
Het |
| Dgkq |
A |
G |
5: 108,802,481 (GRCm39) |
S406P |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,527,977 (GRCm39) |
Y3824C |
probably damaging |
Het |
| Donson |
A |
T |
16: 91,483,133 (GRCm39) |
H69Q |
probably damaging |
Het |
| Dppa3 |
A |
G |
6: 122,606,939 (GRCm39) |
E143G |
probably damaging |
Het |
| Drg1 |
A |
G |
11: 3,212,545 (GRCm39) |
F96L |
probably damaging |
Het |
| Dvl1 |
A |
C |
4: 155,940,052 (GRCm39) |
T395P |
probably damaging |
Het |
| Eftud2 |
A |
T |
11: 102,730,079 (GRCm39) |
V897D |
probably damaging |
Het |
| Enpp6 |
A |
G |
8: 47,535,478 (GRCm39) |
N341S |
possibly damaging |
Het |
| F11 |
A |
G |
8: 45,706,086 (GRCm39) |
F100L |
probably benign |
Het |
| Fas |
T |
C |
19: 34,296,727 (GRCm39) |
Y189H |
probably damaging |
Het |
| Galnt14 |
G |
T |
17: 73,852,076 (GRCm39) |
S114R |
probably damaging |
Het |
| Gfpt2 |
A |
G |
11: 49,720,602 (GRCm39) |
I528V |
probably benign |
Het |
| Glt6d1 |
A |
G |
2: 25,684,280 (GRCm39) |
V242A |
possibly damaging |
Het |
| Grm1 |
A |
T |
10: 10,594,953 (GRCm39) |
|
probably benign |
Het |
| Gskip |
G |
A |
12: 105,665,224 (GRCm39) |
A88T |
probably damaging |
Het |
| Gtpbp1 |
A |
G |
15: 79,597,648 (GRCm39) |
I348V |
probably benign |
Het |
| Hnrnpul1 |
C |
A |
7: 25,440,308 (GRCm39) |
R316L |
possibly damaging |
Het |
| Il34 |
T |
C |
8: 111,474,915 (GRCm39) |
E121G |
probably damaging |
Het |
| Lrr1 |
T |
C |
12: 69,215,685 (GRCm39) |
L19P |
probably damaging |
Het |
| Mat2b |
A |
G |
11: 40,573,496 (GRCm39) |
|
probably benign |
Het |
| Mettl21e |
T |
C |
1: 44,245,542 (GRCm39) |
K235E |
probably damaging |
Het |
| Mir124-2hg |
T |
A |
3: 17,839,693 (GRCm39) |
E126V |
possibly damaging |
Het |
| Myh15 |
A |
G |
16: 48,952,414 (GRCm39) |
K828R |
probably benign |
Het |
| Myom3 |
A |
G |
4: 135,492,237 (GRCm39) |
D127G |
possibly damaging |
Het |
| Nek5 |
C |
A |
8: 22,569,093 (GRCm39) |
|
probably benign |
Het |
| Nudt7 |
A |
T |
8: 114,878,392 (GRCm39) |
|
probably null |
Het |
| Or10ag56 |
A |
T |
2: 87,139,693 (GRCm39) |
T187S |
probably benign |
Het |
| Or10d4c |
T |
G |
9: 39,558,767 (GRCm39) |
C248W |
probably damaging |
Het |
| Or1j4 |
T |
C |
2: 36,740,202 (GRCm39) |
L48P |
probably damaging |
Het |
| Or4a67 |
G |
A |
2: 88,597,658 (GRCm39) |
Q334* |
probably null |
Het |
| Or8k23 |
C |
T |
2: 86,186,619 (GRCm39) |
V36I |
probably benign |
Het |
| Phyhd1 |
A |
G |
2: 30,171,040 (GRCm39) |
H241R |
probably damaging |
Het |
| Pmch |
T |
C |
10: 87,927,262 (GRCm39) |
|
probably benign |
Het |
| Ror1 |
A |
G |
4: 100,298,717 (GRCm39) |
S697G |
probably damaging |
Het |
| Rslcan18 |
A |
G |
13: 67,260,322 (GRCm39) |
V25A |
probably benign |
Het |
| Sema6b |
T |
C |
17: 56,433,630 (GRCm39) |
H426R |
probably damaging |
Het |
| Serpina3g |
T |
C |
12: 104,204,598 (GRCm39) |
F9S |
probably damaging |
Het |
| Serpinb12 |
T |
A |
1: 106,874,432 (GRCm39) |
H52Q |
probably benign |
Het |
| Sh3gl1 |
T |
C |
17: 56,324,873 (GRCm39) |
K294R |
probably benign |
Het |
| Sidt1 |
G |
T |
16: 44,079,809 (GRCm39) |
T615K |
possibly damaging |
Het |
| Slc16a4 |
A |
C |
3: 107,205,255 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
T |
A |
1: 93,199,696 (GRCm39) |
|
probably null |
Het |
| Sp2 |
A |
T |
11: 96,846,924 (GRCm39) |
|
probably benign |
Het |
| Steap1 |
T |
A |
5: 5,792,903 (GRCm39) |
I3F |
possibly damaging |
Het |
| Stxbp5l |
A |
T |
16: 36,950,159 (GRCm39) |
|
probably null |
Het |
| Tbc1d9 |
G |
T |
8: 83,995,614 (GRCm39) |
V968F |
probably benign |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Triobp |
T |
C |
15: 78,858,098 (GRCm39) |
L1233P |
possibly damaging |
Het |
| Trp53bp1 |
C |
A |
2: 121,082,349 (GRCm39) |
A317S |
probably null |
Het |
| Trpc4ap |
A |
G |
2: 155,482,398 (GRCm39) |
F531L |
possibly damaging |
Het |
| Ugt1a10 |
C |
T |
1: 88,145,971 (GRCm39) |
P473L |
probably damaging |
Het |
| Vmn1r86 |
T |
C |
7: 12,836,088 (GRCm39) |
K213E |
probably benign |
Het |
| Vps8 |
G |
A |
16: 21,358,859 (GRCm39) |
|
probably null |
Het |
| Wnk1 |
A |
T |
6: 119,903,525 (GRCm39) |
S2563T |
probably damaging |
Het |
| Yrdc |
C |
G |
4: 124,745,559 (GRCm39) |
R3G |
probably damaging |
Het |
| Zfp287 |
A |
T |
11: 62,606,070 (GRCm39) |
V279E |
probably benign |
Het |
|
| Other mutations in Dhx8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01922:Dhx8
|
APN |
11 |
101,630,633 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01957:Dhx8
|
APN |
11 |
101,645,652 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02039:Dhx8
|
APN |
11 |
101,654,853 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02115:Dhx8
|
APN |
11 |
101,643,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02161:Dhx8
|
APN |
11 |
101,648,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02691:Dhx8
|
APN |
11 |
101,642,830 (GRCm39) |
splice site |
probably benign |
|
|
IGL02697:Dhx8
|
APN |
11 |
101,645,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4304:Dhx8
|
UTSW |
11 |
101,629,014 (GRCm39) |
small insertion |
probably benign |
|
|
FR4342:Dhx8
|
UTSW |
11 |
101,629,032 (GRCm39) |
frame shift |
probably null |
|
|
FR4449:Dhx8
|
UTSW |
11 |
101,629,020 (GRCm39) |
small insertion |
probably benign |
|
|
FR4449:Dhx8
|
UTSW |
11 |
101,629,032 (GRCm39) |
small insertion |
probably benign |
|
|
FR4449:Dhx8
|
UTSW |
11 |
101,629,033 (GRCm39) |
small insertion |
probably benign |
|
|
FR4449:Dhx8
|
UTSW |
11 |
101,629,010 (GRCm39) |
small insertion |
probably benign |
|
|
FR4449:Dhx8
|
UTSW |
11 |
101,629,016 (GRCm39) |
small deletion |
probably benign |
|
|
FR4589:Dhx8
|
UTSW |
11 |
101,629,014 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Dhx8
|
UTSW |
11 |
101,629,015 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Dhx8
|
UTSW |
11 |
101,629,005 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Dhx8
|
UTSW |
11 |
101,629,008 (GRCm39) |
small insertion |
probably benign |
|
|
R0402:Dhx8
|
UTSW |
11 |
101,643,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0969:Dhx8
|
UTSW |
11 |
101,630,526 (GRCm39) |
splice site |
probably benign |
|
|
R1497:Dhx8
|
UTSW |
11 |
101,626,213 (GRCm39) |
intron |
probably benign |
|
|
R1576:Dhx8
|
UTSW |
11 |
101,643,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1758:Dhx8
|
UTSW |
11 |
101,657,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1773:Dhx8
|
UTSW |
11 |
101,643,189 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1941:Dhx8
|
UTSW |
11 |
101,643,024 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1954:Dhx8
|
UTSW |
11 |
101,644,105 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2124:Dhx8
|
UTSW |
11 |
101,653,071 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2128:Dhx8
|
UTSW |
11 |
101,629,235 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2148:Dhx8
|
UTSW |
11 |
101,629,203 (GRCm39) |
nonsense |
probably null |
|
|
R2206:Dhx8
|
UTSW |
11 |
101,641,797 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2207:Dhx8
|
UTSW |
11 |
101,641,797 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4667:Dhx8
|
UTSW |
11 |
101,628,987 (GRCm39) |
missense |
unknown |
|
|
R4678:Dhx8
|
UTSW |
11 |
101,630,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Dhx8
|
UTSW |
11 |
101,628,996 (GRCm39) |
nonsense |
probably null |
|
|
R4943:Dhx8
|
UTSW |
11 |
101,628,526 (GRCm39) |
nonsense |
probably null |
|
|
R5341:Dhx8
|
UTSW |
11 |
101,629,016 (GRCm39) |
small deletion |
probably benign |
|
|
R5586:Dhx8
|
UTSW |
11 |
101,623,862 (GRCm39) |
unclassified |
probably benign |
|
|
R5662:Dhx8
|
UTSW |
11 |
101,657,584 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5664:Dhx8
|
UTSW |
11 |
101,631,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6082:Dhx8
|
UTSW |
11 |
101,655,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6085:Dhx8
|
UTSW |
11 |
101,655,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6415:Dhx8
|
UTSW |
11 |
101,628,513 (GRCm39) |
missense |
unknown |
|
|
R6658:Dhx8
|
UTSW |
11 |
101,655,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6841:Dhx8
|
UTSW |
11 |
101,655,618 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6918:Dhx8
|
UTSW |
11 |
101,629,247 (GRCm39) |
nonsense |
probably null |
|
|
R7011:Dhx8
|
UTSW |
11 |
101,632,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7098:Dhx8
|
UTSW |
11 |
101,628,594 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7153:Dhx8
|
UTSW |
11 |
101,631,001 (GRCm39) |
splice site |
probably null |
|
|
R7284:Dhx8
|
UTSW |
11 |
101,645,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7604:Dhx8
|
UTSW |
11 |
101,655,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8135:Dhx8
|
UTSW |
11 |
101,629,090 (GRCm39) |
missense |
unknown |
|
|
R8137:Dhx8
|
UTSW |
11 |
101,654,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8256:Dhx8
|
UTSW |
11 |
101,631,588 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8284:Dhx8
|
UTSW |
11 |
101,648,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8289:Dhx8
|
UTSW |
11 |
101,631,571 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8696:Dhx8
|
UTSW |
11 |
101,623,958 (GRCm39) |
missense |
unknown |
|
|
R9061:Dhx8
|
UTSW |
11 |
101,632,406 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9076:Dhx8
|
UTSW |
11 |
101,629,021 (GRCm39) |
missense |
|
|
|
R9443:Dhx8
|
UTSW |
11 |
101,655,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9492:Dhx8
|
UTSW |
11 |
101,654,808 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9554:Dhx8
|
UTSW |
11 |
101,645,614 (GRCm39) |
nonsense |
probably null |
|
|
R9700:Dhx8
|
UTSW |
11 |
101,624,015 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9780:Dhx8
|
UTSW |
11 |
101,632,403 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Z1177:Dhx8
|
UTSW |
11 |
101,648,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTAGAGACAGGTGCCCCAAATC -3'
(R):5'- CATTCGGAGTGACAGAAGACCCAG -3'
Sequencing Primer
(F):5'- CCAAATCATCATGGGGACATTTC -3'
(R):5'- GGGACAGAGAGTCATTCCTTC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation