Incidental Mutation 'IGL02993:Ddx51'
| ID |
407035 |
| 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 # |
IGL02993
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
110801317-110808362 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110803487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 323
(V323A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031478]
[ENSMUST00000042147]
[ENSMUST00000148773]
|
| AlphaFold |
Q6P9R1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031478
AA Change: V323A
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000031478
Gene: ENSMUSG00000029504
AA Change: V323A
| 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: ENSMUST00000199795
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150100
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148773
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd3 |
A |
C |
3: 121,567,659 (GRCm39) |
I434S |
probably benign |
Het |
| Actr2 |
C |
T |
11: 20,022,514 (GRCm39) |
R319Q |
probably damaging |
Het |
| Atp13a5 |
G |
T |
16: 29,112,322 (GRCm39) |
Y606* |
probably null |
Het |
| Baiap3 |
C |
T |
17: 25,469,056 (GRCm39) |
|
probably null |
Het |
| Cers2 |
A |
G |
3: 95,227,396 (GRCm39) |
Y8C |
probably benign |
Het |
| Ces1g |
T |
A |
8: 94,043,707 (GRCm39) |
M411L |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,894,304 (GRCm39) |
|
probably benign |
Het |
| Cyp2d40 |
C |
A |
15: 82,645,722 (GRCm39) |
K94N |
probably benign |
Het |
| Dock1 |
G |
A |
7: 134,346,027 (GRCm39) |
V190I |
probably benign |
Het |
| Evc2 |
A |
G |
5: 37,576,501 (GRCm39) |
T1042A |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,011,304 (GRCm39) |
S2135T |
probably damaging |
Het |
| Gpat2 |
T |
C |
2: 127,269,486 (GRCm39) |
F46S |
probably damaging |
Het |
| Klhl38 |
T |
A |
15: 58,185,851 (GRCm39) |
K293* |
probably null |
Het |
| Map4k4 |
T |
C |
1: 40,053,348 (GRCm39) |
I916T |
probably damaging |
Het |
| Nrap |
T |
A |
19: 56,333,965 (GRCm39) |
K964M |
probably damaging |
Het |
| Osbpl5 |
T |
C |
7: 143,253,071 (GRCm39) |
|
probably null |
Het |
| Perm1 |
A |
G |
4: 156,302,236 (GRCm39) |
Q260R |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,279,314 (GRCm39) |
N133K |
possibly damaging |
Het |
| Scart2 |
A |
G |
7: 139,876,486 (GRCm39) |
T537A |
probably benign |
Het |
| Slfn9 |
T |
C |
11: 82,872,022 (GRCm39) |
S905G |
probably benign |
Het |
| Spata31g1 |
T |
C |
4: 42,971,719 (GRCm39) |
Y351H |
probably damaging |
Het |
| Ssh2 |
C |
T |
11: 77,344,370 (GRCm39) |
T785I |
probably damaging |
Het |
| Stk16 |
C |
A |
1: 75,189,648 (GRCm39) |
Q69K |
probably damaging |
Het |
| Stk36 |
T |
C |
1: 74,661,446 (GRCm39) |
L491P |
probably benign |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tcp11 |
T |
C |
17: 28,289,490 (GRCm39) |
N194D |
probably damaging |
Het |
| Trio |
C |
A |
15: 27,830,325 (GRCm39) |
|
probably benign |
Het |
| Ugt2b1 |
A |
G |
5: 87,069,850 (GRCm39) |
V297A |
possibly damaging |
Het |
| Ugt2b5 |
T |
G |
5: 87,285,091 (GRCm39) |
H282P |
probably damaging |
Het |
| Usp53 |
A |
G |
3: 122,727,492 (GRCm39) |
M1030T |
probably damaging |
Het |
| Vmn1r234 |
T |
A |
17: 21,449,965 (GRCm39) |
I293N |
probably damaging |
Het |
| Vmn2r57 |
T |
A |
7: 41,077,498 (GRCm39) |
T223S |
probably benign |
Het |
| Wdr20 |
G |
T |
12: 110,760,742 (GRCm39) |
E543* |
probably null |
Het |
| Zbtb25 |
T |
A |
12: 76,396,191 (GRCm39) |
N344Y |
probably damaging |
Het |
| Zcchc2 |
T |
C |
1: 105,957,898 (GRCm39) |
F790L |
probably damaging |
Het |
|
| Other mutations in Ddx51 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01103:Ddx51
|
APN |
5 |
110,803,729 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01688:Ddx51
|
APN |
5 |
110,803,513 (GRCm39) |
missense |
probably benign |
0.37 |
|
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 |
2016-08-02 |
Incidental Mutation