Incidental Mutation 'R9738:Wdtc1'
| ID |
731718 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdtc1
|
| Ensembl Gene |
ENSMUSG00000037622 |
| Gene Name |
WD and tetratricopeptide repeats 1 |
| Synonyms |
adp, adipose, LOC230796 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9738 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
133019770-133080792 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133022604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 581
(S581P)
|
| 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: S581P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040647
Gene: ENSMUSG00000037622
AA Change: S581P
| 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 |
silent
Transcript: ENSMUST00000105906
|
| SMART Domains |
Protein: ENSMUSP00000101526
Gene: ENSMUSG00000037622
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.3%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12b |
A |
G |
12: 70,216,039 (GRCm39) |
T199A |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,737,121 (GRCm39) |
F2921S |
unknown |
Het |
| Atg12 |
A |
G |
18: 46,874,505 (GRCm39) |
S37P |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Cdh5 |
A |
G |
8: 104,863,329 (GRCm39) |
D413G |
probably damaging |
Het |
| Cdk8 |
A |
G |
5: 146,236,539 (GRCm39) |
N318S |
probably benign |
Het |
| Clasp2 |
T |
A |
9: 113,590,665 (GRCm39) |
L68* |
probably null |
Het |
| Cntnap2 |
CCACATAAACAACACACA |
CCACA |
6: 45,992,373 (GRCm39) |
|
probably null |
Het |
| Cpne9 |
A |
C |
6: 113,267,401 (GRCm39) |
N194T |
probably damaging |
Het |
| Cpxm1 |
A |
G |
2: 130,235,302 (GRCm39) |
|
probably null |
Het |
| Crtc1 |
T |
C |
8: 70,840,205 (GRCm39) |
N556S |
probably damaging |
Het |
| Gm12888 |
A |
T |
4: 121,175,520 (GRCm39) |
C87* |
probably null |
Het |
| Hivep2 |
A |
G |
10: 14,019,583 (GRCm39) |
E2118G |
probably damaging |
Het |
| Hrh4 |
A |
G |
18: 13,155,270 (GRCm39) |
N270D |
possibly damaging |
Het |
| Iqsec1 |
G |
A |
6: 90,671,672 (GRCm39) |
Q77* |
probably null |
Het |
| Lars1 |
A |
G |
18: 42,350,649 (GRCm39) |
W887R |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,288,527 (GRCm39) |
Y706H |
probably damaging |
Het |
| Ltn1 |
A |
T |
16: 87,222,524 (GRCm39) |
F170I |
probably damaging |
Het |
| Msrb1 |
T |
C |
17: 24,958,535 (GRCm39) |
S40P |
probably damaging |
Het |
| Myh6 |
T |
C |
14: 55,189,759 (GRCm39) |
I1096V |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,455,963 (GRCm39) |
Y116C |
probably damaging |
Het |
| Ndrg2 |
T |
C |
14: 52,148,238 (GRCm39) |
H41R |
possibly damaging |
Het |
| Or5an11 |
A |
G |
19: 12,245,869 (GRCm39) |
T92A |
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,934,526 (GRCm39) |
T603A |
possibly damaging |
Het |
| Sugp1 |
T |
A |
8: 70,505,256 (GRCm39) |
H74Q |
probably benign |
Het |
| Tjp1 |
T |
C |
7: 64,986,380 (GRCm39) |
T243A |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,568,390 (GRCm39) |
E358G |
possibly damaging |
Het |
| Unc5d |
T |
A |
8: 29,214,332 (GRCm39) |
H410L |
probably benign |
Het |
| Usp1 |
T |
C |
4: 98,819,672 (GRCm39) |
V378A |
probably benign |
Het |
| Zfp947 |
A |
G |
17: 22,365,341 (GRCm39) |
V111A |
probably benign |
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 |
|
IGL02078:Wdtc1
|
APN |
4 |
133,033,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCAGTCTCTAGCCTGTAC -3'
(R):5'- AGAGTTCTGAGTCGAGGGTAGC -3'
Sequencing Primer
(F):5'- CTGTACGGCTGCCCTCC -3'
(R):5'- CCCTTGACTGTGAGGAACTGAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation