Incidental Mutation 'IGL02078:Wdtc1'
| ID |
283367 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdtc1
|
| Ensembl Gene |
ENSMUSG00000037622 |
| Gene Name |
WD and tetratricopeptide repeats 1 |
| Synonyms |
adp, adipose, LOC230796 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02078
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
133019770-133080792 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 133033271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 176
(D176Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043305]
[ENSMUST00000105906]
|
| AlphaFold |
Q80ZK9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043305
AA Change: D176Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040647
Gene: ENSMUSG00000037622
AA Change: D176Y
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
36 |
75 |
4.58e-8 |
SMART |
|
WD40
|
79 |
120 |
1.24e-4 |
SMART |
|
WD40
|
123 |
163 |
2.58e-1 |
SMART |
|
WD40
|
170 |
213 |
4.42e1 |
SMART |
|
Pfam:TPR_11
|
362 |
429 |
1.1e-15 |
PFAM |
|
Pfam:TPR_2
|
432 |
457 |
1.1e-3 |
PFAM |
|
low complexity region
|
488 |
499 |
N/A |
INTRINSIC |
|
WD40
|
523 |
566 |
7.16e-1 |
SMART |
|
WD40
|
569 |
608 |
1.55e-5 |
SMART |
|
low complexity region
|
655 |
670 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105906
AA Change: D176Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101526
Gene: ENSMUSG00000037622
AA Change: D176Y
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
36 |
75 |
4.58e-8 |
SMART |
|
WD40
|
79 |
120 |
1.24e-4 |
SMART |
|
WD40
|
123 |
163 |
2.58e-1 |
SMART |
|
WD40
|
170 |
213 |
4.42e1 |
SMART |
|
Blast:WD40
|
261 |
296 |
5e-12 |
BLAST |
|
Pfam:TPR_11
|
361 |
429 |
2.9e-16 |
PFAM |
|
Pfam:TPR_2
|
432 |
457 |
1.4e-3 |
PFAM |
|
low complexity region
|
488 |
499 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135929
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice heterozygous for a gene trapped allele are obese and insulin resistant with significantly elevated plasma insulin and leptin levels. Although a number of adult homozygotes are also described as obese, the majority of homozygotes die in utero thus precluding statistically significant analyses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
T |
C |
15: 59,888,179 (GRCm39) |
D87G |
probably benign |
Het |
| Acap1 |
C |
T |
11: 69,786,112 (GRCm39) |
R18Q |
probably damaging |
Het |
| Atp1a1 |
A |
C |
3: 101,499,179 (GRCm39) |
V140G |
probably damaging |
Het |
| Bmpr1b |
G |
A |
3: 141,576,498 (GRCm39) |
P112S |
possibly damaging |
Het |
| Chst8 |
T |
A |
7: 34,374,759 (GRCm39) |
N360I |
possibly damaging |
Het |
| Cldn23 |
A |
T |
8: 36,293,359 (GRCm39) |
V43E |
possibly damaging |
Het |
| Clta |
T |
C |
4: 44,030,232 (GRCm39) |
F168S |
probably damaging |
Het |
| Cyp2c40 |
T |
C |
19: 39,755,926 (GRCm39) |
I463V |
probably benign |
Het |
| E2f2 |
A |
G |
4: 135,920,323 (GRCm39) |
D436G |
probably damaging |
Het |
| Fbxo24 |
T |
G |
5: 137,622,611 (GRCm39) |
T52P |
probably damaging |
Het |
| Gria4 |
G |
A |
9: 4,793,878 (GRCm39) |
A60V |
probably damaging |
Het |
| Grm1 |
C |
T |
10: 10,565,354 (GRCm39) |
V985M |
probably benign |
Het |
| Hexa |
A |
G |
9: 59,464,586 (GRCm39) |
T159A |
probably benign |
Het |
| Inf2 |
T |
A |
12: 112,568,048 (GRCm39) |
V200E |
probably damaging |
Het |
| Kif20b |
T |
A |
19: 34,913,044 (GRCm39) |
V319E |
probably damaging |
Het |
| Klhl10 |
A |
G |
11: 100,336,577 (GRCm39) |
D188G |
probably benign |
Het |
| Mobp |
G |
A |
9: 119,996,980 (GRCm39) |
R37H |
probably damaging |
Het |
| Mybpc2 |
T |
A |
7: 44,153,204 (GRCm39) |
D1086V |
probably damaging |
Het |
| Nadk |
A |
C |
4: 155,663,860 (GRCm39) |
|
probably benign |
Het |
| Or7g33 |
T |
A |
9: 19,448,749 (GRCm39) |
H159L |
probably benign |
Het |
| Per1 |
A |
G |
11: 68,995,125 (GRCm39) |
E619G |
probably damaging |
Het |
| Rab3gap1 |
G |
A |
1: 127,796,652 (GRCm39) |
|
probably benign |
Het |
| Rimkla |
A |
G |
4: 119,325,344 (GRCm39) |
L355P |
probably damaging |
Het |
| Rnf139 |
A |
G |
15: 58,771,880 (GRCm39) |
D635G |
possibly damaging |
Het |
| Sall1 |
T |
A |
8: 89,757,003 (GRCm39) |
N1034Y |
probably damaging |
Het |
| Serpinb13 |
A |
T |
1: 106,926,688 (GRCm39) |
Q228L |
probably damaging |
Het |
| Sin3b |
G |
T |
8: 73,480,208 (GRCm39) |
M903I |
possibly damaging |
Het |
| Slco1a5 |
A |
T |
6: 142,200,172 (GRCm39) |
M204K |
probably benign |
Het |
| Smo |
A |
G |
6: 29,754,707 (GRCm39) |
D259G |
possibly damaging |
Het |
| Spata31g1 |
A |
C |
4: 42,972,685 (GRCm39) |
K673Q |
possibly damaging |
Het |
| Sult2a4 |
T |
C |
7: 13,723,469 (GRCm39) |
I15M |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,772,785 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Wdtc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01653:Wdtc1
|
APN |
4 |
133,022,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02005:Wdtc1
|
APN |
4 |
133,036,225 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02146:Wdtc1
|
APN |
4 |
133,029,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02724:Wdtc1
|
APN |
4 |
133,024,789 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL03196:Wdtc1
|
APN |
4 |
133,022,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Furry
|
UTSW |
4 |
133,029,693 (GRCm39) |
critical splice donor site |
probably null |
|
|
pear
|
UTSW |
4 |
133,021,702 (GRCm39) |
splice site |
probably null |
|
|
Piliated
|
UTSW |
4 |
133,023,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0448:Wdtc1
|
UTSW |
4 |
133,024,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0501:Wdtc1
|
UTSW |
4 |
133,036,151 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0743:Wdtc1
|
UTSW |
4 |
133,027,972 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1170:Wdtc1
|
UTSW |
4 |
133,024,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1439:Wdtc1
|
UTSW |
4 |
133,029,118 (GRCm39) |
missense |
probably benign |
|
|
R1456:Wdtc1
|
UTSW |
4 |
133,024,739 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1833:Wdtc1
|
UTSW |
4 |
133,036,053 (GRCm39) |
splice site |
probably benign |
|
|
R4506:Wdtc1
|
UTSW |
4 |
133,036,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4687:Wdtc1
|
UTSW |
4 |
133,023,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4739:Wdtc1
|
UTSW |
4 |
133,029,110 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4967:Wdtc1
|
UTSW |
4 |
133,021,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5032:Wdtc1
|
UTSW |
4 |
133,036,162 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5193:Wdtc1
|
UTSW |
4 |
133,021,678 (GRCm39) |
nonsense |
probably null |
|
|
R5448:Wdtc1
|
UTSW |
4 |
133,021,608 (GRCm39) |
missense |
probably benign |
|
|
R5593:Wdtc1
|
UTSW |
4 |
133,021,702 (GRCm39) |
splice site |
probably null |
|
|
R5890:Wdtc1
|
UTSW |
4 |
133,021,673 (GRCm39) |
missense |
unknown |
|
|
R7536:Wdtc1
|
UTSW |
4 |
133,022,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7609:Wdtc1
|
UTSW |
4 |
133,023,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8127:Wdtc1
|
UTSW |
4 |
133,029,693 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8129:Wdtc1
|
UTSW |
4 |
133,031,460 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8431:Wdtc1
|
UTSW |
4 |
133,049,481 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8725:Wdtc1
|
UTSW |
4 |
133,041,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8735:Wdtc1
|
UTSW |
4 |
133,031,511 (GRCm39) |
nonsense |
probably null |
|
|
R8937:Wdtc1
|
UTSW |
4 |
133,031,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9357:Wdtc1
|
UTSW |
4 |
133,023,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9387:Wdtc1
|
UTSW |
4 |
133,036,058 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9415:Wdtc1
|
UTSW |
4 |
133,022,684 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9476:Wdtc1
|
UTSW |
4 |
133,049,529 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9510:Wdtc1
|
UTSW |
4 |
133,049,529 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9738:Wdtc1
|
UTSW |
4 |
133,022,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation