Incidental Mutation 'IGL00921:Ddx49'
| ID |
28017 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ddx49
|
| Ensembl Gene |
ENSMUSG00000057788 |
| Gene Name |
DEAD box helicase 49 |
| Synonyms |
R27090_2, DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
IGL00921
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
70745516-70755121 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 70747406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 345
(Q345*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003669]
[ENSMUST00000008004]
[ENSMUST00000110124]
[ENSMUST00000140212]
|
| AlphaFold |
Q4FZF3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003669
|
| SMART Domains |
Protein: ENSMUSP00000003669
Gene: ENSMUSG00000003573
| Domain | Start | End | E-Value | Type |
|---|
|
WH1
|
4 |
110 |
4.92e-37 |
SMART |
|
low complexity region
|
198 |
210 |
N/A |
INTRINSIC |
|
PDB:3CVF|D
|
285 |
342 |
2e-10 |
PDB |
|
low complexity region
|
343 |
358 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000008004
AA Change: Q345*
|
| SMART Domains |
Protein: ENSMUSP00000008004
Gene: ENSMUSG00000057788
AA Change: Q345*
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
21 |
222 |
1.85e-57 |
SMART |
|
HELICc
|
262 |
343 |
2.41e-29 |
SMART |
|
low complexity region
|
369 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
461 |
470 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110124
|
| SMART Domains |
Protein: ENSMUSP00000105751
Gene: ENSMUSG00000003573
| Domain | Start | End | E-Value | Type |
|---|
|
WH1
|
4 |
110 |
4.92e-37 |
SMART |
|
low complexity region
|
198 |
210 |
N/A |
INTRINSIC |
|
PDB:3CVF|D
|
285 |
342 |
2e-10 |
PDB |
|
low complexity region
|
343 |
358 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127094
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135368
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135692
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138688
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144890
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143528
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140212
|
| SMART Domains |
Protein: ENSMUSP00000117033
Gene: ENSMUSG00000003573
| Domain | Start | End | E-Value | Type |
|---|
|
WH1
|
4 |
110 |
4.92e-37 |
SMART |
|
low complexity region
|
198 |
210 |
N/A |
INTRINSIC |
|
PDB:3CVF|D
|
282 |
339 |
2e-10 |
PDB |
|
low complexity region
|
340 |
355 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,324,888 (GRCm39) |
I1530T |
probably damaging |
Het |
| Actb |
T |
C |
5: 142,890,191 (GRCm39) |
E237G |
probably damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,690,585 (GRCm39) |
E931G |
probably damaging |
Het |
| Cenpc1 |
T |
C |
5: 86,185,387 (GRCm39) |
T375A |
probably benign |
Het |
| D1Pas1 |
A |
G |
1: 186,700,983 (GRCm39) |
D304G |
probably benign |
Het |
| Dnttip2 |
A |
T |
3: 122,068,939 (GRCm39) |
K51N |
probably benign |
Het |
| Fxr2 |
A |
G |
11: 69,543,066 (GRCm39) |
E621G |
probably damaging |
Het |
| Grhpr |
A |
G |
4: 44,988,991 (GRCm39) |
D216G |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Hook2 |
T |
C |
8: 85,729,126 (GRCm39) |
|
probably benign |
Het |
| Hspbp1 |
A |
G |
7: 4,667,750 (GRCm39) |
S248P |
probably damaging |
Het |
| Kat6a |
C |
T |
8: 23,430,279 (GRCm39) |
P1878L |
unknown |
Het |
| Klrg1 |
A |
T |
6: 122,259,711 (GRCm39) |
D20E |
probably benign |
Het |
| Layn |
G |
A |
9: 50,968,708 (GRCm39) |
T345I |
probably damaging |
Het |
| Mpi |
G |
A |
9: 57,459,549 (GRCm39) |
L9F |
probably damaging |
Het |
| Nbn |
T |
C |
4: 15,963,833 (GRCm39) |
V78A |
possibly damaging |
Het |
| Pkdrej |
A |
G |
15: 85,701,427 (GRCm39) |
I1503T |
probably damaging |
Het |
| Pou2f2 |
C |
A |
7: 24,792,125 (GRCm39) |
E577* |
probably null |
Het |
| Prim2 |
G |
T |
1: 33,551,241 (GRCm39) |
H292Q |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,636,302 (GRCm39) |
N630D |
probably benign |
Het |
| Trim80 |
A |
G |
11: 115,338,490 (GRCm39) |
N440S |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,766,746 (GRCm39) |
S3111G |
probably damaging |
Het |
| Ubash3a |
A |
G |
17: 31,447,160 (GRCm39) |
T339A |
probably benign |
Het |
| Zbtb21 |
A |
C |
16: 97,753,222 (GRCm39) |
S354A |
probably damaging |
Het |
| Zfp335 |
T |
C |
2: 164,736,696 (GRCm39) |
T980A |
possibly damaging |
Het |
|
| Other mutations in Ddx49 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02630:Ddx49
|
APN |
8 |
70,753,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0306:Ddx49
|
UTSW |
8 |
70,747,322 (GRCm39) |
unclassified |
probably benign |
|
|
R0394:Ddx49
|
UTSW |
8 |
70,749,575 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0421:Ddx49
|
UTSW |
8 |
70,748,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0524:Ddx49
|
UTSW |
8 |
70,749,574 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0764:Ddx49
|
UTSW |
8 |
70,749,907 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1051:Ddx49
|
UTSW |
8 |
70,747,335 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1852:Ddx49
|
UTSW |
8 |
70,753,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2008:Ddx49
|
UTSW |
8 |
70,748,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6216:Ddx49
|
UTSW |
8 |
70,749,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7085:Ddx49
|
UTSW |
8 |
70,755,133 (GRCm39) |
unclassified |
probably benign |
|
|
R7102:Ddx49
|
UTSW |
8 |
70,753,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7648:Ddx49
|
UTSW |
8 |
70,750,605 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8126:Ddx49
|
UTSW |
8 |
70,748,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9364:Ddx49
|
UTSW |
8 |
70,746,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation