Incidental Mutation 'R0038:Ddx39a'
| ID |
18590 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx39a
|
| Ensembl Gene |
ENSMUSG00000005481 |
| Gene Name |
DEAD box helicase 39a |
| Synonyms |
BAT1, 2610307C23Rik, Ddx39 |
| MMRRC Submission |
038332-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R0038 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
84441806-84453521 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84449127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 305
(L305P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002964]
[ENSMUST00000019576]
[ENSMUST00000075843]
[ENSMUST00000109802]
[ENSMUST00000109810]
[ENSMUST00000172396]
[ENSMUST00000212949]
[ENSMUST00000140521]
[ENSMUST00000166939]
|
| AlphaFold |
Q8VDW0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002964
|
| SMART Domains |
Protein: ENSMUSP00000002964
Gene: ENSMUSG00000002885
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
30 |
68 |
1.63e1 |
SMART |
|
EGF_CA
|
69 |
119 |
5.92e-8 |
SMART |
|
EGF_CA
|
120 |
167 |
1.78e-11 |
SMART |
|
GPS
|
384 |
430 |
2.18e-8 |
SMART |
|
Pfam:Dicty_CAR
|
431 |
703 |
1.3e-8 |
PFAM |
|
Pfam:7tm_2
|
432 |
672 |
8.1e-68 |
PFAM |
|
low complexity region
|
704 |
714 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019576
AA Change: L305P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000019576
Gene: ENSMUSG00000005481
AA Change: L305P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
18 |
N/A |
INTRINSIC |
|
DEXDc
|
63 |
264 |
4.06e-54 |
SMART |
|
HELICc
|
300 |
381 |
9.09e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075843
|
| SMART Domains |
Protein: ENSMUSP00000075240
Gene: ENSMUSG00000002885
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
30 |
68 |
1.63e1 |
SMART |
|
EGF_CA
|
69 |
119 |
5.92e-8 |
SMART |
|
EGF_CA
|
165 |
213 |
1.38e-8 |
SMART |
|
EGF_CA
|
214 |
261 |
1.78e-11 |
SMART |
|
GPS
|
478 |
524 |
2.18e-8 |
SMART |
|
Pfam:Dicty_CAR
|
525 |
798 |
4.6e-8 |
PFAM |
|
Pfam:7tm_2
|
526 |
766 |
5.3e-68 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109802
|
| SMART Domains |
Protein: ENSMUSP00000105427
Gene: ENSMUSG00000002885
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
30 |
68 |
1.63e1 |
SMART |
|
EGF_CA
|
69 |
119 |
5.92e-8 |
SMART |
|
EGF_CA
|
120 |
168 |
1.38e-8 |
SMART |
|
EGF_CA
|
169 |
216 |
1.78e-11 |
SMART |
|
GPS
|
433 |
479 |
2.18e-8 |
SMART |
|
Pfam:Dicty_CAR
|
480 |
752 |
5.3e-8 |
PFAM |
|
Pfam:7tm_2
|
481 |
721 |
7.5e-67 |
PFAM |
|
low complexity region
|
753 |
763 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109810
AA Change: L305P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105435
Gene: ENSMUSG00000005481
AA Change: L305P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
18 |
N/A |
INTRINSIC |
|
DEXDc
|
63 |
264 |
4.06e-54 |
SMART |
|
HELICc
|
300 |
381 |
9.09e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127505
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138789
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172396
AA Change: L305P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132222
Gene: ENSMUSG00000005481
AA Change: L305P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
18 |
N/A |
INTRINSIC |
|
DEXDc
|
63 |
264 |
4.06e-54 |
SMART |
|
HELICc
|
300 |
381 |
9.09e-25 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212949
AA Change: L305P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140606
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139797
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184114
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140521
|
| SMART Domains |
Protein: ENSMUSP00000116101
Gene: ENSMUSG00000005481
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
18 |
N/A |
INTRINSIC |
|
DEXDc
|
63 |
208 |
2.82e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166939
|
| SMART Domains |
Protein: ENSMUSP00000128220
Gene: ENSMUSG00000002885
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
EGF
|
28 |
66 |
1.63e1 |
SMART |
|
EGF_CA
|
67 |
117 |
5.92e-8 |
SMART |
|
EGF_CA
|
118 |
165 |
1.78e-11 |
SMART |
|
GPS
|
382 |
428 |
2.18e-8 |
SMART |
|
Pfam:Dicty_CAR
|
429 |
701 |
2.1e-7 |
PFAM |
|
Pfam:7tm_2
|
430 |
670 |
1.7e-66 |
PFAM |
|
low complexity region
|
702 |
712 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.8192 |
| Coding Region Coverage |
- 1x: 83.6%
- 3x: 76.1%
- 10x: 58.6%
- 20x: 40.4%
|
| Validation Efficiency |
91% (67/74) |
| 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. These proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD) and 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 the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is thought to play a role in the prognosis of patients with gastrointestinal stromal tumors. A pseudogene of this gene is present on chromosome 13. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agfg1 |
T |
C |
1: 82,863,823 (GRCm39) |
|
probably benign |
Het |
| Ahnak2 |
T |
C |
12: 112,740,896 (GRCm39) |
T253A |
probably benign |
Het |
| Ankrd28 |
A |
T |
14: 31,429,992 (GRCm39) |
M892K |
probably damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,022,734 (GRCm39) |
|
probably benign |
Het |
| Cldn8 |
A |
G |
16: 88,359,922 (GRCm39) |
M1T |
probably null |
Het |
| Clec11a |
A |
G |
7: 43,955,906 (GRCm39) |
|
probably benign |
Het |
| Depdc5 |
A |
G |
5: 33,026,197 (GRCm39) |
E60G |
probably benign |
Het |
| Etl4 |
A |
T |
2: 20,748,385 (GRCm39) |
H39L |
probably damaging |
Het |
| Gramd1b |
G |
A |
9: 40,228,822 (GRCm39) |
T252M |
probably damaging |
Het |
| Hcrtr2 |
A |
T |
9: 76,166,963 (GRCm39) |
S125T |
probably benign |
Het |
| Htr2a |
T |
G |
14: 74,943,687 (GRCm39) |
S422R |
probably benign |
Het |
| Kirrel3 |
T |
A |
9: 34,823,066 (GRCm39) |
|
probably null |
Het |
| Krtap9-5 |
G |
A |
11: 99,839,428 (GRCm39) |
C43Y |
possibly damaging |
Het |
| Lama2 |
T |
C |
10: 26,862,793 (GRCm39) |
D2990G |
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,283,377 (GRCm39) |
F437L |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,062,997 (GRCm39) |
S685P |
possibly damaging |
Het |
| Oog4 |
T |
C |
4: 143,165,514 (GRCm39) |
D211G |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,479,272 (GRCm39) |
E723V |
possibly damaging |
Het |
| Pgm3 |
A |
T |
9: 86,446,726 (GRCm39) |
|
probably benign |
Het |
| Pnpla5 |
A |
G |
15: 84,006,714 (GRCm39) |
Y90H |
probably damaging |
Het |
| Polr1b |
C |
T |
2: 128,957,588 (GRCm39) |
R548* |
probably null |
Het |
| Rnf168 |
T |
C |
16: 32,117,813 (GRCm39) |
V458A |
probably benign |
Het |
| Rnf32 |
T |
C |
5: 29,410,652 (GRCm39) |
|
probably benign |
Het |
| Sclt1 |
T |
C |
3: 41,583,943 (GRCm39) |
|
probably benign |
Het |
| Serpina12 |
A |
G |
12: 104,004,216 (GRCm39) |
F139L |
probably damaging |
Het |
| Stag3 |
T |
A |
5: 138,299,298 (GRCm39) |
|
probably null |
Het |
| Stard5 |
T |
C |
7: 83,285,951 (GRCm39) |
|
probably benign |
Het |
| Suclg1 |
A |
G |
6: 73,237,486 (GRCm39) |
E77G |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,358,809 (GRCm39) |
G2112C |
probably benign |
Het |
| Zfp644 |
T |
G |
5: 106,782,909 (GRCm39) |
E1155A |
probably benign |
Het |
|
| Other mutations in Ddx39a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02544:Ddx39a
|
APN |
8 |
84,449,402 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02712:Ddx39a
|
APN |
8 |
84,448,386 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0038:Ddx39a
|
UTSW |
8 |
84,449,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0051:Ddx39a
|
UTSW |
8 |
84,447,251 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0051:Ddx39a
|
UTSW |
8 |
84,447,251 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0143:Ddx39a
|
UTSW |
8 |
84,447,179 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0147:Ddx39a
|
UTSW |
8 |
84,449,105 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0148:Ddx39a
|
UTSW |
8 |
84,449,105 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0392:Ddx39a
|
UTSW |
8 |
84,448,366 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0426:Ddx39a
|
UTSW |
8 |
84,448,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0830:Ddx39a
|
UTSW |
8 |
84,446,452 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1509:Ddx39a
|
UTSW |
8 |
84,446,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2935:Ddx39a
|
UTSW |
8 |
84,447,587 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R3082:Ddx39a
|
UTSW |
8 |
84,449,335 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4050:Ddx39a
|
UTSW |
8 |
84,448,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4647:Ddx39a
|
UTSW |
8 |
84,448,902 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4804:Ddx39a
|
UTSW |
8 |
84,447,724 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5242:Ddx39a
|
UTSW |
8 |
84,448,440 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5268:Ddx39a
|
UTSW |
8 |
84,448,950 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6598:Ddx39a
|
UTSW |
8 |
84,449,556 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6805:Ddx39a
|
UTSW |
8 |
84,449,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6852:Ddx39a
|
UTSW |
8 |
84,449,646 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7326:Ddx39a
|
UTSW |
8 |
84,449,100 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7559:Ddx39a
|
UTSW |
8 |
84,447,595 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7803:Ddx39a
|
UTSW |
8 |
84,446,229 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8103:Ddx39a
|
UTSW |
8 |
84,451,105 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9187:Ddx39a
|
UTSW |
8 |
84,449,113 (GRCm39) |
missense |
probably benign |
|
|
R9483:Ddx39a
|
UTSW |
8 |
84,448,916 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9631:Ddx39a
|
UTSW |
8 |
84,447,729 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
X0026:Ddx39a
|
UTSW |
8 |
84,448,959 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2013-03-25 |
Incidental Mutation