Incidental Mutation 'IGL01103:Ddx51'
| ID |
51109 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ddx51
|
| Ensembl Gene |
ENSMUSG00000029504 |
| Gene Name |
DEAD box helicase 51 |
| Synonyms |
2310061O04Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01103
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
110801317-110808362 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 110803729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 375
(A375V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031478]
[ENSMUST00000042147]
[ENSMUST00000148773]
|
| AlphaFold |
Q6P9R1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031478
AA Change: A375V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000031478
Gene: ENSMUSG00000029504
AA Change: A375V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
75 |
N/A |
INTRINSIC |
|
DEXDc
|
189 |
442 |
4.04e-40 |
SMART |
|
HELICc
|
491 |
573 |
2.86e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042147
|
| SMART Domains |
Protein: ENSMUSP00000038263
Gene: ENSMUSG00000033294
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CBF
|
305 |
453 |
2.7e-43 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124612
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136442
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136629
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143087
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145712
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199795
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148773
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Calhm6 |
A |
T |
10: 34,002,361 (GRCm39) |
C241S |
probably benign |
Het |
| Cdh3 |
A |
G |
8: 107,281,937 (GRCm39) |
Y775C |
probably damaging |
Het |
| Clip2 |
A |
G |
5: 134,521,204 (GRCm39) |
S980P |
possibly damaging |
Het |
| Eif4e |
A |
G |
3: 138,253,412 (GRCm39) |
|
probably benign |
Het |
| Epb41l5 |
T |
C |
1: 119,495,577 (GRCm39) |
D588G |
probably benign |
Het |
| Fer1l4 |
C |
T |
2: 155,886,361 (GRCm39) |
|
probably null |
Het |
| Fli1 |
T |
C |
9: 32,335,236 (GRCm39) |
N399D |
probably benign |
Het |
| Gm20422 |
T |
C |
8: 70,195,776 (GRCm39) |
T168A |
possibly damaging |
Het |
| Kcnk12 |
C |
T |
17: 88,054,195 (GRCm39) |
G156R |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,902,283 (GRCm39) |
S309T |
probably damaging |
Het |
| Lcp1 |
T |
A |
14: 75,464,533 (GRCm39) |
|
probably null |
Het |
| Neo1 |
A |
G |
9: 58,788,082 (GRCm39) |
C1324R |
possibly damaging |
Het |
| Nin |
G |
A |
12: 70,103,532 (GRCm39) |
T236I |
probably damaging |
Het |
| Npy6r |
A |
G |
18: 44,408,585 (GRCm39) |
E2G |
probably benign |
Het |
| Numa1 |
T |
C |
7: 101,650,778 (GRCm39) |
V136A |
probably benign |
Het |
| Pcdhb8 |
A |
G |
18: 37,490,253 (GRCm39) |
K644E |
probably damaging |
Het |
| Polr3h |
T |
A |
15: 81,806,697 (GRCm39) |
N41Y |
probably damaging |
Het |
| Prrx1 |
T |
C |
1: 163,089,531 (GRCm39) |
T99A |
probably damaging |
Het |
| Prss1l |
T |
A |
6: 41,374,091 (GRCm39) |
V231D |
probably damaging |
Het |
| Rbm18 |
G |
A |
2: 36,024,184 (GRCm39) |
R26* |
probably null |
Het |
| Repin1 |
G |
T |
6: 48,574,887 (GRCm39) |
|
probably benign |
Het |
| Rnase1 |
T |
C |
14: 51,383,079 (GRCm39) |
N92D |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,063,906 (GRCm39) |
C782* |
probably null |
Het |
| Slc27a6 |
T |
A |
18: 58,689,836 (GRCm39) |
S101T |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,532,328 (GRCm39) |
N2862D |
possibly damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tril |
A |
G |
6: 53,796,023 (GRCm39) |
Y400H |
probably damaging |
Het |
| Trim34b |
T |
C |
7: 103,979,106 (GRCm39) |
C118R |
probably damaging |
Het |
| Vwa7 |
T |
C |
17: 35,243,918 (GRCm39) |
V784A |
probably damaging |
Het |
|
| Other mutations in Ddx51 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01688:Ddx51
|
APN |
5 |
110,803,513 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02993:Ddx51
|
APN |
5 |
110,803,487 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03149:Ddx51
|
APN |
5 |
110,801,600 (GRCm39) |
missense |
probably benign |
|
|
R1659:Ddx51
|
UTSW |
5 |
110,802,986 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2036:Ddx51
|
UTSW |
5 |
110,804,491 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2211:Ddx51
|
UTSW |
5 |
110,803,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4705:Ddx51
|
UTSW |
5 |
110,803,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5239:Ddx51
|
UTSW |
5 |
110,801,514 (GRCm39) |
missense |
probably benign |
|
|
R5255:Ddx51
|
UTSW |
5 |
110,803,908 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5711:Ddx51
|
UTSW |
5 |
110,802,790 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5966:Ddx51
|
UTSW |
5 |
110,804,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6970:Ddx51
|
UTSW |
5 |
110,804,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7374:Ddx51
|
UTSW |
5 |
110,804,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7664:Ddx51
|
UTSW |
5 |
110,804,785 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Ddx51
|
UTSW |
5 |
110,802,424 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation