Incidental Mutation 'IGL02932:Ddx39b'
ID |
364168 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ddx39b
|
Ensembl Gene |
ENSMUSG00000019432 |
Gene Name |
DEAD box helicase 39b |
Synonyms |
D17H6S81E-1, DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B, Bat1a, Bat1, Bat-1, 0610030D10Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.966)
|
Stock # |
IGL02932
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
35460722-35472683 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 35472337 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133705
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068056]
[ENSMUST00000172549]
[ENSMUST00000173731]
[ENSMUST00000174757]
|
AlphaFold |
Q9Z1N5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068056
|
SMART Domains |
Protein: ENSMUSP00000070682 Gene: ENSMUSG00000019432
Domain | Start | End | E-Value | Type |
DEXDc
|
64 |
265 |
7.17e-55 |
SMART |
HELICc
|
301 |
382 |
1.48e-24 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172549
|
SMART Domains |
Protein: ENSMUSP00000134178 Gene: ENSMUSG00000019432
Domain | Start | End | E-Value | Type |
DEXDc
|
64 |
265 |
7.17e-55 |
SMART |
HELICc
|
301 |
382 |
1.48e-24 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173731
|
SMART Domains |
Protein: ENSMUSP00000133428 Gene: ENSMUSG00000019432
Domain | Start | End | E-Value | Type |
DEXDc
|
64 |
265 |
7.17e-55 |
SMART |
HELICc
|
301 |
382 |
1.48e-24 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174164
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174757
|
SMART Domains |
Protein: ENSMUSP00000133705 Gene: ENSMUSG00000019432
Domain | Start | End | E-Value | Type |
DEXDc
|
1 |
147 |
2.85e-17 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183361
|
Coding Region Coverage |
|
Validation Efficiency |
|
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 family of RNA-dependent ATPases that mediate ATP hydrolysis during pre-mRNA splicing. The encoded protein is an essential splicing factor required for association of U2 small nuclear ribonucleoprotein with pre-mRNA, and it also plays an important role in mRNA export from the nucleus to the cytoplasm. This gene belongs to a cluster of genes localized in the vicinity of the genes encoding tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. Mutations in this gene may be associated with rheumatoid arthritis. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on both chromosomes 6 and 11. Read-through transcription also occurs between this gene and the upstream ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) gene. [provided by RefSeq, Feb 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap42 |
T |
A |
9: 9,115,709 (GRCm39) |
E122D |
probably damaging |
Het |
Asb3 |
G |
A |
11: 30,979,067 (GRCm39) |
|
probably null |
Het |
Avl9 |
T |
C |
6: 56,713,536 (GRCm39) |
S265P |
probably benign |
Het |
Cep44 |
C |
T |
8: 57,000,459 (GRCm39) |
R18Q |
probably damaging |
Het |
Clec10a |
T |
C |
11: 70,060,554 (GRCm39) |
|
probably benign |
Het |
Cog4 |
A |
G |
8: 111,579,065 (GRCm39) |
I115V |
probably benign |
Het |
Coq3 |
C |
T |
4: 21,900,430 (GRCm39) |
A219V |
probably benign |
Het |
Cry2 |
G |
A |
2: 92,243,462 (GRCm39) |
R460* |
probably null |
Het |
Dhx40 |
G |
A |
11: 86,662,755 (GRCm39) |
R646C |
probably damaging |
Het |
Ears2 |
G |
A |
7: 121,662,284 (GRCm39) |
R55C |
probably damaging |
Het |
Eif3m |
C |
T |
2: 104,845,214 (GRCm39) |
G26R |
probably damaging |
Het |
Exo5 |
A |
G |
4: 120,779,742 (GRCm39) |
L41P |
probably benign |
Het |
Fut10 |
A |
G |
8: 31,749,965 (GRCm39) |
H417R |
probably damaging |
Het |
Gars1 |
T |
A |
6: 55,037,929 (GRCm39) |
L296Q |
probably damaging |
Het |
Gpr143 |
A |
T |
X: 151,576,439 (GRCm39) |
|
probably benign |
Het |
Htr1b |
C |
A |
9: 81,513,689 (GRCm39) |
R306L |
probably damaging |
Het |
Lama3 |
G |
A |
18: 12,661,858 (GRCm39) |
A2185T |
probably damaging |
Het |
Mbd5 |
C |
A |
2: 49,169,460 (GRCm39) |
Q1544K |
possibly damaging |
Het |
Mccc1 |
T |
C |
3: 36,014,178 (GRCm39) |
E713G |
possibly damaging |
Het |
Mttp |
A |
G |
3: 137,817,505 (GRCm39) |
F415S |
probably benign |
Het |
Mug1 |
A |
G |
6: 121,864,386 (GRCm39) |
T1428A |
probably benign |
Het |
Mup6 |
A |
C |
4: 60,006,009 (GRCm39) |
D159A |
probably damaging |
Het |
Nsd2 |
T |
C |
5: 34,037,472 (GRCm39) |
L698P |
probably damaging |
Het |
Or2w6 |
A |
T |
13: 21,843,001 (GRCm39) |
M164K |
probably damaging |
Het |
Or4p22 |
G |
T |
2: 88,317,519 (GRCm39) |
V148F |
probably benign |
Het |
Or5p70 |
A |
G |
7: 107,994,720 (GRCm39) |
N131S |
probably benign |
Het |
Or6c217 |
A |
T |
10: 129,738,287 (GRCm39) |
C97* |
probably null |
Het |
Osgepl1 |
G |
A |
1: 53,360,675 (GRCm39) |
R372H |
probably benign |
Het |
Pias2 |
C |
T |
18: 77,232,799 (GRCm39) |
H537Y |
probably damaging |
Het |
Slc38a7 |
A |
C |
8: 96,572,783 (GRCm39) |
I149M |
probably damaging |
Het |
Smn1 |
A |
G |
13: 100,264,472 (GRCm39) |
T68A |
probably benign |
Het |
Syde2 |
A |
G |
3: 145,707,231 (GRCm39) |
K657R |
possibly damaging |
Het |
Tdrd5 |
A |
T |
1: 156,098,190 (GRCm39) |
H625Q |
possibly damaging |
Het |
Tead3 |
T |
C |
17: 28,560,325 (GRCm39) |
Y2C |
probably damaging |
Het |
Tmem255a |
T |
A |
X: 37,296,940 (GRCm39) |
T280S |
probably benign |
Het |
Ttpa |
A |
G |
4: 20,021,215 (GRCm39) |
T128A |
possibly damaging |
Het |
Wdhd1 |
A |
G |
14: 47,509,591 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Ddx39b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01095:Ddx39b
|
APN |
17 |
35,465,937 (GRCm39) |
missense |
probably benign |
|
R4111:Ddx39b
|
UTSW |
17 |
35,462,340 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4133:Ddx39b
|
UTSW |
17 |
35,472,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R4654:Ddx39b
|
UTSW |
17 |
35,472,464 (GRCm39) |
makesense |
probably null |
|
R5083:Ddx39b
|
UTSW |
17 |
35,472,005 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5698:Ddx39b
|
UTSW |
17 |
35,470,287 (GRCm39) |
missense |
probably benign |
0.16 |
R7060:Ddx39b
|
UTSW |
17 |
35,471,726 (GRCm39) |
missense |
probably damaging |
0.96 |
R7073:Ddx39b
|
UTSW |
17 |
35,471,826 (GRCm39) |
missense |
probably benign |
0.00 |
R7087:Ddx39b
|
UTSW |
17 |
35,472,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R7159:Ddx39b
|
UTSW |
17 |
35,465,986 (GRCm39) |
missense |
probably benign |
0.07 |
R7251:Ddx39b
|
UTSW |
17 |
35,472,464 (GRCm39) |
makesense |
probably null |
|
R7554:Ddx39b
|
UTSW |
17 |
35,466,006 (GRCm39) |
missense |
probably benign |
0.00 |
R7748:Ddx39b
|
UTSW |
17 |
35,471,726 (GRCm39) |
missense |
probably damaging |
0.96 |
R8811:Ddx39b
|
UTSW |
17 |
35,463,435 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-12-18 |