Incidental Mutation 'R0013:Dhx33'
| ID |
19102 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhx33
|
| Ensembl Gene |
ENSMUSG00000040620 |
| Gene Name |
DEAH-box helicase 33 |
| Synonyms |
3110057P17Rik, DEAH (Asp-Glu-Ala-His) box polypeptide 33, 9430096J02Rik, Ddx33 |
| MMRRC Submission |
038308-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0013 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
70874917-70895258 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70884461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 448
(F448L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104167
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108527]
[ENSMUST00000124464]
[ENSMUST00000155044]
|
| AlphaFold |
Q80VY9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049048
|
| SMART Domains |
Protein: ENSMUSP00000038018
Gene: ENSMUSG00000040620
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
27 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
41 |
76 |
3e-16 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083312
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108527
AA Change: F448L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104167
Gene: ENSMUSG00000040620
AA Change: F448L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
39 |
N/A |
INTRINSIC |
|
DEXDc
|
53 |
252 |
1.96e-29 |
SMART |
|
HELICc
|
300 |
401 |
3.45e-16 |
SMART |
|
HA2
|
461 |
554 |
3.29e-29 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123860
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124464
AA Change: F224L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136051
Gene: ENSMUSG00000040620
AA Change: F224L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
134 |
145 |
N/A |
INTRINSIC |
|
HA2
|
237 |
330 |
3.29e-29 |
SMART |
|
Pfam:OB_NTP_bind
|
364 |
464 |
7.7e-27 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000146203
AA Change: F62L
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155044
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179635
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178111
|
| Meta Mutation Damage Score |
0.9421 |
| Coding Region Coverage |
- 1x: 79.5%
- 3x: 71.1%
- 10x: 47.6%
- 20x: 27.2%
|
| Validation Efficiency |
94% (77/82) |
| 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 DEAD box protein family. The DEAD box proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp2 |
A |
T |
18: 80,172,960 (GRCm39) |
V483D |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,570,257 (GRCm39) |
C911* |
probably null |
Het |
| Arap2 |
G |
A |
5: 62,840,827 (GRCm39) |
L680F |
probably damaging |
Het |
| C2cd3 |
T |
A |
7: 100,065,269 (GRCm39) |
L685H |
probably damaging |
Het |
| Dnmbp |
G |
A |
19: 43,890,670 (GRCm39) |
P366S |
probably benign |
Het |
| Elmod1 |
G |
A |
9: 53,820,185 (GRCm39) |
|
probably benign |
Het |
| Galnt18 |
T |
C |
7: 111,153,664 (GRCm39) |
N320S |
probably damaging |
Het |
| Glp2r |
C |
A |
11: 67,600,538 (GRCm39) |
G437V |
possibly damaging |
Het |
| Gm9936 |
A |
G |
5: 114,995,408 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Ints11 |
T |
C |
4: 155,971,625 (GRCm39) |
F315S |
probably damaging |
Het |
| Itga11 |
A |
T |
9: 62,683,895 (GRCm39) |
N1059Y |
possibly damaging |
Het |
| Kdm5d |
A |
T |
Y: 941,715 (GRCm39) |
K1305N |
probably benign |
Homo |
| Mboat7 |
A |
G |
7: 3,686,821 (GRCm39) |
S340P |
probably damaging |
Het |
| Mex3c |
G |
A |
18: 73,723,622 (GRCm39) |
A572T |
probably benign |
Het |
| Myo9a |
A |
T |
9: 59,767,489 (GRCm39) |
|
probably benign |
Het |
| Myog |
T |
A |
1: 134,217,973 (GRCm39) |
H60Q |
probably damaging |
Het |
| Pgm5 |
A |
C |
19: 24,710,904 (GRCm39) |
|
probably null |
Het |
| Plb1 |
T |
A |
5: 32,506,959 (GRCm39) |
|
probably benign |
Het |
| Ppm1e |
A |
G |
11: 87,139,884 (GRCm39) |
|
probably benign |
Het |
| Prss46 |
G |
T |
9: 110,679,123 (GRCm39) |
S108I |
probably damaging |
Het |
| Ptma |
C |
T |
1: 86,457,498 (GRCm39) |
|
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,041,297 (GRCm39) |
|
probably null |
Het |
| Rrn3 |
T |
A |
16: 13,630,977 (GRCm39) |
D604E |
possibly damaging |
Het |
| Scn4a |
A |
G |
11: 106,239,231 (GRCm39) |
|
probably benign |
Het |
| Sis |
A |
G |
3: 72,817,809 (GRCm39) |
L1468P |
possibly damaging |
Het |
| Slit3 |
A |
G |
11: 35,598,745 (GRCm39) |
M1450V |
probably benign |
Het |
| Tppp |
A |
G |
13: 74,169,479 (GRCm39) |
K73R |
possibly damaging |
Het |
| Tut4 |
T |
A |
4: 108,388,152 (GRCm39) |
|
probably benign |
Het |
| Uba7 |
A |
T |
9: 107,855,448 (GRCm39) |
Y375F |
probably damaging |
Het |
| Ugcg |
T |
C |
4: 59,213,931 (GRCm39) |
L171P |
possibly damaging |
Het |
| Vsig2 |
T |
C |
9: 37,453,872 (GRCm39) |
|
probably benign |
Het |
| Zfp839 |
T |
A |
12: 110,834,820 (GRCm39) |
S692T |
possibly damaging |
Het |
|
| Other mutations in Dhx33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Dhx33
|
APN |
11 |
70,892,446 (GRCm39) |
missense |
probably benign |
|
|
IGL01357:Dhx33
|
APN |
11 |
70,884,687 (GRCm39) |
nonsense |
probably null |
|
|
IGL01358:Dhx33
|
APN |
11 |
70,884,687 (GRCm39) |
nonsense |
probably null |
|
|
IGL01359:Dhx33
|
APN |
11 |
70,884,687 (GRCm39) |
nonsense |
probably null |
|
|
IGL01360:Dhx33
|
APN |
11 |
70,884,687 (GRCm39) |
nonsense |
probably null |
|
|
IGL01558:Dhx33
|
APN |
11 |
70,890,579 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02232:Dhx33
|
APN |
11 |
70,878,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02543:Dhx33
|
APN |
11 |
70,878,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0013:Dhx33
|
UTSW |
11 |
70,884,461 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1544:Dhx33
|
UTSW |
11 |
70,890,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1782:Dhx33
|
UTSW |
11 |
70,892,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1909:Dhx33
|
UTSW |
11 |
70,879,933 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2074:Dhx33
|
UTSW |
11 |
70,890,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3729:Dhx33
|
UTSW |
11 |
70,879,978 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3731:Dhx33
|
UTSW |
11 |
70,879,978 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5902:Dhx33
|
UTSW |
11 |
70,879,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7129:Dhx33
|
UTSW |
11 |
70,884,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7605:Dhx33
|
UTSW |
11 |
70,890,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9135:Dhx33
|
UTSW |
11 |
70,877,992 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9721:Dhx33
|
UTSW |
11 |
70,892,424 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2013-03-25 |
Incidental Mutation