Incidental Mutation 'R6717:Dhx9'
| ID |
529412 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhx9
|
| Ensembl Gene |
ENSMUSG00000042699 |
| Gene Name |
DExH-box helicase 9 |
| Synonyms |
Ddx9, NDHII, nuclear DNA helicase II, leukophysin, NDH II, RNA helicase, RHA |
| MMRRC Submission |
044835-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6717 (G1)
|
| Quality Score |
201.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
153331504-153363406 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 153349210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139827
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042141]
[ENSMUST00000186380]
[ENSMUST00000186966]
[ENSMUST00000188345]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042141
|
| SMART Domains |
Protein: ENSMUSP00000038135
Gene: ENSMUSG00000042699
| Domain | Start | End | E-Value | Type |
|---|
|
DSRM
|
4 |
70 |
2.23e-17 |
SMART |
|
low complexity region
|
80 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
120 |
N/A |
INTRINSIC |
|
DSRM
|
184 |
254 |
3.52e-15 |
SMART |
|
low complexity region
|
284 |
299 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
349 |
N/A |
INTRINSIC |
|
DEXDc
|
389 |
576 |
1.61e-25 |
SMART |
|
low complexity region
|
592 |
608 |
N/A |
INTRINSIC |
|
HELICc
|
667 |
772 |
4.69e-18 |
SMART |
|
HA2
|
834 |
922 |
1.33e-24 |
SMART |
|
Pfam:OB_NTP_bind
|
961 |
1077 |
1.6e-18 |
PFAM |
|
low complexity region
|
1173 |
1309 |
N/A |
INTRINSIC |
|
low complexity region
|
1313 |
1337 |
N/A |
INTRINSIC |
|
low complexity region
|
1339 |
1384 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000186380
|
| SMART Domains |
Protein: ENSMUSP00000139825
Gene: ENSMUSG00000042699
| Domain | Start | End | E-Value | Type |
|---|
|
DSRM
|
4 |
70 |
1.3e-19 |
SMART |
|
low complexity region
|
80 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
120 |
N/A |
INTRINSIC |
|
DSRM
|
183 |
253 |
2.1e-17 |
SMART |
|
low complexity region
|
283 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
348 |
N/A |
INTRINSIC |
|
DEXDc
|
388 |
575 |
6.6e-28 |
SMART |
|
low complexity region
|
591 |
607 |
N/A |
INTRINSIC |
|
HELICc
|
666 |
771 |
1.9e-20 |
SMART |
|
HA2
|
833 |
921 |
9.9e-29 |
SMART |
|
Pfam:OB_NTP_bind
|
960 |
1076 |
5e-13 |
PFAM |
|
low complexity region
|
1172 |
1308 |
N/A |
INTRINSIC |
|
low complexity region
|
1312 |
1336 |
N/A |
INTRINSIC |
|
low complexity region
|
1338 |
1383 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186966
|
| SMART Domains |
Protein: ENSMUSP00000139806
Gene: ENSMUSG00000042699
| Domain | Start | End | E-Value | Type |
|---|
|
DSRM
|
4 |
70 |
1.3e-19 |
SMART |
|
low complexity region
|
80 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
120 |
N/A |
INTRINSIC |
|
DSRM
|
183 |
253 |
2.1e-17 |
SMART |
|
low complexity region
|
283 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
348 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
349 |
451 |
1e-37 |
BLAST |
|
PDB:3LLM|B
|
349 |
456 |
2e-55 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000188345
|
| SMART Domains |
Protein: ENSMUSP00000139827
Gene: ENSMUSG00000042699
| Domain | Start | End | E-Value | Type |
|---|
|
DSRM
|
4 |
70 |
1.3e-19 |
SMART |
|
low complexity region
|
80 |
91 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
120 |
N/A |
INTRINSIC |
|
DSRM
|
184 |
254 |
2.1e-17 |
SMART |
|
low complexity region
|
284 |
299 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
349 |
N/A |
INTRINSIC |
|
DEXDc
|
389 |
576 |
6.6e-28 |
SMART |
|
low complexity region
|
592 |
608 |
N/A |
INTRINSIC |
|
Pfam:Helicase_C
|
678 |
735 |
6.4e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189509
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189516
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190383
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190544
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| Validation Efficiency |
98% (47/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DEAH-containing family of RNA helicases. The encoded protein is an enzyme that catalyzes the ATP-dependent unwinding of double-stranded RNA and DNA-RNA complexes. This protein localizes to both the nucleus and the cytoplasm and functions as a transcriptional regulator. This protein may also be involved in the expression and nuclear export of retroviral RNAs. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 11 and 13.[provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygotes die in embryonic stages with massive apoptotic cell death in embryonic ectodermal cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
C |
T |
5: 4,114,086 (GRCm39) |
L3122F |
probably damaging |
Het |
| Atp6v1b1 |
A |
T |
6: 83,730,632 (GRCm39) |
|
probably null |
Het |
| Ccdc178 |
A |
T |
18: 22,153,946 (GRCm39) |
V621E |
probably damaging |
Het |
| Cfap126 |
T |
C |
1: 170,941,671 (GRCm39) |
|
probably null |
Het |
| Cog2 |
T |
C |
8: 125,252,488 (GRCm39) |
I64T |
probably damaging |
Het |
| Efcab7 |
A |
G |
4: 99,761,931 (GRCm39) |
D407G |
possibly damaging |
Het |
| Eif2b5 |
G |
T |
16: 20,324,033 (GRCm39) |
G459C |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,793,765 (GRCm39) |
E1168G |
probably damaging |
Het |
| Flnc |
AGCTGTCAAGTATGCTG |
AGCTG |
6: 29,450,901 (GRCm39) |
|
probably benign |
Het |
| Fry |
A |
G |
5: 150,419,777 (GRCm39) |
T980A |
probably benign |
Het |
| Gabbr2 |
A |
G |
4: 46,787,574 (GRCm39) |
V363A |
possibly damaging |
Het |
| Ggt6 |
T |
A |
11: 72,328,346 (GRCm39) |
L244* |
probably null |
Het |
| Gprc6a |
T |
A |
10: 51,491,233 (GRCm39) |
I768F |
probably damaging |
Het |
| Grk1 |
G |
A |
8: 13,466,237 (GRCm39) |
M560I |
probably benign |
Het |
| Hapln4 |
G |
A |
8: 70,537,740 (GRCm39) |
E145K |
probably damaging |
Het |
| Hoxd9 |
C |
T |
2: 74,528,733 (GRCm39) |
P112S |
probably benign |
Het |
| Ly6g6f |
T |
A |
17: 35,304,550 (GRCm39) |
M1L |
probably benign |
Het |
| Mast1 |
T |
C |
8: 85,644,383 (GRCm39) |
T849A |
probably benign |
Het |
| Mob4 |
A |
T |
1: 55,175,872 (GRCm39) |
M39L |
possibly damaging |
Het |
| Mrgpre |
A |
T |
7: 143,335,260 (GRCm39) |
L81Q |
probably damaging |
Het |
| Mst1 |
T |
C |
9: 107,957,774 (GRCm39) |
|
probably null |
Het |
| Muc5b |
A |
T |
7: 141,411,559 (GRCm39) |
R1502* |
probably null |
Het |
| Or4b13 |
T |
A |
2: 90,082,868 (GRCm39) |
I155L |
probably benign |
Het |
| Or5ap2 |
T |
A |
2: 85,680,567 (GRCm39) |
I257N |
probably damaging |
Het |
| Or9e1 |
T |
C |
11: 58,732,113 (GRCm39) |
Y58H |
probably damaging |
Het |
| Pdc |
A |
G |
1: 150,208,769 (GRCm39) |
D84G |
probably damaging |
Het |
| Peak1 |
T |
C |
9: 56,114,523 (GRCm39) |
N443D |
probably benign |
Het |
| Pkd1l3 |
T |
A |
8: 110,341,401 (GRCm39) |
W85R |
unknown |
Het |
| Pramel31 |
G |
T |
4: 144,089,227 (GRCm39) |
V182L |
probably benign |
Het |
| Rfc1 |
G |
A |
5: 65,459,347 (GRCm39) |
Q190* |
probably null |
Het |
| Rfc1 |
A |
G |
5: 65,470,304 (GRCm39) |
S68P |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,452,317 (GRCm39) |
V432A |
probably benign |
Het |
| Ror2 |
A |
G |
13: 53,273,018 (GRCm39) |
S204P |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,162,631 (GRCm39) |
E205G |
probably damaging |
Het |
| Slc2a8 |
A |
C |
2: 32,866,189 (GRCm39) |
M277R |
probably damaging |
Het |
| Slc4a1 |
T |
C |
11: 102,245,249 (GRCm39) |
Y566C |
probably damaging |
Het |
| Slc6a12 |
A |
G |
6: 121,331,262 (GRCm39) |
N185S |
probably benign |
Het |
| Srcap |
GCTCCTCCTCCTCCTCCT |
GCTCCTCCTCCTCCT |
7: 127,157,482 (GRCm39) |
|
probably benign |
Het |
| Stk33 |
T |
A |
7: 108,926,823 (GRCm39) |
T279S |
possibly damaging |
Het |
| Taok3 |
A |
G |
5: 117,379,015 (GRCm39) |
|
probably benign |
Het |
| Tlr11 |
A |
G |
14: 50,599,561 (GRCm39) |
T516A |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,641,093 (GRCm39) |
L1088Q |
possibly damaging |
Het |
| Tmem132d |
T |
A |
5: 127,861,485 (GRCm39) |
M879L |
probably benign |
Het |
| Tnk2 |
A |
G |
16: 32,489,687 (GRCm39) |
E322G |
probably damaging |
Het |
| Ttc28 |
T |
C |
5: 111,433,302 (GRCm39) |
V2081A |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,624,753 (GRCm39) |
|
probably null |
Het |
| Zfp105 |
T |
C |
9: 122,759,373 (GRCm39) |
V348A |
possibly damaging |
Het |
| Zswim2 |
T |
C |
2: 83,745,753 (GRCm39) |
R562G |
probably benign |
Het |
|
| Other mutations in Dhx9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00500:Dhx9
|
APN |
1 |
153,341,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01284:Dhx9
|
APN |
1 |
153,340,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01555:Dhx9
|
APN |
1 |
153,335,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01767:Dhx9
|
APN |
1 |
153,344,614 (GRCm39) |
splice site |
probably benign |
|
|
IGL02938:Dhx9
|
APN |
1 |
153,340,376 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0001:Dhx9
|
UTSW |
1 |
153,338,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Dhx9
|
UTSW |
1 |
153,348,453 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0309:Dhx9
|
UTSW |
1 |
153,341,441 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0517:Dhx9
|
UTSW |
1 |
153,354,662 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0589:Dhx9
|
UTSW |
1 |
153,348,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1217:Dhx9
|
UTSW |
1 |
153,334,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1406:Dhx9
|
UTSW |
1 |
153,340,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1406:Dhx9
|
UTSW |
1 |
153,340,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1430:Dhx9
|
UTSW |
1 |
153,359,493 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1456:Dhx9
|
UTSW |
1 |
153,341,441 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1460:Dhx9
|
UTSW |
1 |
153,341,426 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1724:Dhx9
|
UTSW |
1 |
153,334,234 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1848:Dhx9
|
UTSW |
1 |
153,341,499 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1922:Dhx9
|
UTSW |
1 |
153,336,020 (GRCm39) |
splice site |
probably null |
|
|
R2001:Dhx9
|
UTSW |
1 |
153,331,857 (GRCm39) |
nonsense |
probably null |
|
|
R3084:Dhx9
|
UTSW |
1 |
153,341,445 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3085:Dhx9
|
UTSW |
1 |
153,341,445 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3123:Dhx9
|
UTSW |
1 |
153,341,452 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3730:Dhx9
|
UTSW |
1 |
153,353,866 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4274:Dhx9
|
UTSW |
1 |
153,344,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4353:Dhx9
|
UTSW |
1 |
153,347,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4560:Dhx9
|
UTSW |
1 |
153,342,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4583:Dhx9
|
UTSW |
1 |
153,336,049 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4598:Dhx9
|
UTSW |
1 |
153,342,797 (GRCm39) |
frame shift |
probably null |
|
|
R4603:Dhx9
|
UTSW |
1 |
153,342,797 (GRCm39) |
frame shift |
probably null |
|
|
R4889:Dhx9
|
UTSW |
1 |
153,356,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4931:Dhx9
|
UTSW |
1 |
153,348,419 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5411:Dhx9
|
UTSW |
1 |
153,356,969 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5569:Dhx9
|
UTSW |
1 |
153,342,838 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5635:Dhx9
|
UTSW |
1 |
153,359,493 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5659:Dhx9
|
UTSW |
1 |
153,347,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6128:Dhx9
|
UTSW |
1 |
153,353,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6215:Dhx9
|
UTSW |
1 |
153,348,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6428:Dhx9
|
UTSW |
1 |
153,332,324 (GRCm39) |
unclassified |
probably benign |
|
|
R6489:Dhx9
|
UTSW |
1 |
153,332,389 (GRCm39) |
unclassified |
probably benign |
|
|
R7098:Dhx9
|
UTSW |
1 |
153,340,768 (GRCm39) |
missense |
probably benign |
|
|
R7209:Dhx9
|
UTSW |
1 |
153,340,369 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7226:Dhx9
|
UTSW |
1 |
153,341,423 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7440:Dhx9
|
UTSW |
1 |
153,356,977 (GRCm39) |
missense |
probably benign |
|
|
R7685:Dhx9
|
UTSW |
1 |
153,334,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7712:Dhx9
|
UTSW |
1 |
153,340,747 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8088:Dhx9
|
UTSW |
1 |
153,338,443 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8371:Dhx9
|
UTSW |
1 |
153,331,961 (GRCm39) |
missense |
unknown |
|
|
R8397:Dhx9
|
UTSW |
1 |
153,344,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8502:Dhx9
|
UTSW |
1 |
153,335,210 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8519:Dhx9
|
UTSW |
1 |
153,348,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8531:Dhx9
|
UTSW |
1 |
153,334,182 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8842:Dhx9
|
UTSW |
1 |
153,338,335 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9145:Dhx9
|
UTSW |
1 |
153,336,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9295:Dhx9
|
UTSW |
1 |
153,340,673 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9557:Dhx9
|
UTSW |
1 |
153,333,292 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9661:Dhx9
|
UTSW |
1 |
153,340,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Dhx9
|
UTSW |
1 |
153,348,275 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Dhx9
|
UTSW |
1 |
153,332,321 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTTCACGTGCGAAAATCCC -3'
(R):5'- CCTGGGCTCACATAATCTTAAACTTC -3'
Sequencing Primer
(F):5'- GTTCACGTGCGAAAATCCCTATAAAG -3'
(R):5'- TTTAGTGGCTAGAGAGATGGCAC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation