Incidental Mutation 'IGL00858:Dtwd2'
ID |
10413 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dtwd2
|
Ensembl Gene |
ENSMUSG00000024505 |
Gene Name |
DTW domain containing 2 |
Synonyms |
8030470C17Rik, 1190002H09Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
IGL00858
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
49829212-49888668 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 49861452 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 98
(I98N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025383
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025383]
[ENSMUST00000163590]
|
AlphaFold |
Q9D0U1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025383
AA Change: I98N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000025383 Gene: ENSMUSG00000024505 AA Change: I98N
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
26 |
N/A |
INTRINSIC |
low complexity region
|
32 |
45 |
N/A |
INTRINSIC |
DTW
|
65 |
260 |
4.42e-59 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139852
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163590
AA Change: I98N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000128219 Gene: ENSMUSG00000024505 AA Change: I98N
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
26 |
N/A |
INTRINSIC |
low complexity region
|
32 |
45 |
N/A |
INTRINSIC |
DTW
|
65 |
164 |
3.12e-4 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
G |
A |
3: 121,967,537 (GRCm39) |
V988M |
probably damaging |
Het |
Afap1l1 |
G |
A |
18: 61,869,925 (GRCm39) |
T635M |
probably benign |
Het |
B4galnt1 |
A |
G |
10: 127,003,633 (GRCm39) |
T199A |
probably benign |
Het |
Ccdc183 |
T |
A |
2: 25,499,783 (GRCm39) |
M378L |
probably benign |
Het |
Ccser1 |
C |
A |
6: 61,787,649 (GRCm39) |
S134* |
probably null |
Het |
Cluh |
A |
G |
11: 74,550,431 (GRCm39) |
K248E |
possibly damaging |
Het |
Cpa6 |
T |
A |
1: 10,554,219 (GRCm39) |
R129S |
probably damaging |
Het |
Cyp2c29 |
T |
A |
19: 39,296,100 (GRCm39) |
V138D |
probably damaging |
Het |
Cyp4f14 |
A |
G |
17: 33,130,692 (GRCm39) |
|
probably benign |
Het |
Dock10 |
T |
C |
1: 80,545,720 (GRCm39) |
N841S |
possibly damaging |
Het |
Fut10 |
G |
T |
8: 31,725,733 (GRCm39) |
V163F |
probably damaging |
Het |
Ifi44 |
T |
A |
3: 151,455,217 (GRCm39) |
M3L |
probably benign |
Het |
Mtch1 |
C |
T |
17: 29,559,430 (GRCm39) |
D74N |
probably damaging |
Het |
Nav3 |
A |
G |
10: 109,578,493 (GRCm39) |
V1588A |
probably damaging |
Het |
Pbk |
T |
C |
14: 66,049,373 (GRCm39) |
|
probably benign |
Het |
Ptcd1 |
A |
T |
5: 145,088,092 (GRCm39) |
|
probably benign |
Het |
Rapgef4 |
A |
T |
2: 72,029,241 (GRCm39) |
I438F |
probably damaging |
Het |
Tas2r113 |
C |
A |
6: 132,870,115 (GRCm39) |
R48S |
probably benign |
Het |
Tektl1 |
T |
C |
10: 78,586,403 (GRCm39) |
D216G |
probably damaging |
Het |
Tnn |
C |
T |
1: 159,915,962 (GRCm39) |
|
probably null |
Het |
Tnnt2 |
G |
A |
1: 135,779,440 (GRCm39) |
V277I |
probably damaging |
Het |
Twnk |
G |
T |
19: 44,996,065 (GRCm39) |
W166L |
probably benign |
Het |
Utp20 |
G |
A |
10: 88,644,987 (GRCm39) |
L580F |
possibly damaging |
Het |
Utp20 |
T |
A |
10: 88,645,000 (GRCm39) |
E575D |
probably benign |
Het |
|
Other mutations in Dtwd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00492:Dtwd2
|
APN |
18 |
49,856,776 (GRCm39) |
nonsense |
probably null |
|
R0575:Dtwd2
|
UTSW |
18 |
49,831,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R0691:Dtwd2
|
UTSW |
18 |
49,861,424 (GRCm39) |
splice site |
probably benign |
|
R2336:Dtwd2
|
UTSW |
18 |
49,833,320 (GRCm39) |
splice site |
probably benign |
|
R4110:Dtwd2
|
UTSW |
18 |
49,831,373 (GRCm39) |
utr 3 prime |
probably benign |
|
R4543:Dtwd2
|
UTSW |
18 |
49,857,175 (GRCm39) |
splice site |
probably null |
|
R4920:Dtwd2
|
UTSW |
18 |
49,831,507 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8246:Dtwd2
|
UTSW |
18 |
49,831,492 (GRCm39) |
missense |
probably benign |
0.21 |
R8722:Dtwd2
|
UTSW |
18 |
49,833,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R9213:Dtwd2
|
UTSW |
18 |
49,856,799 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2012-12-06 |