Incidental Mutation 'R9415:Wdtc1'
ID |
711990 |
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 # |
R9415 (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 133022684 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 554
(V554A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040647
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043305]
[ENSMUST00000105906]
|
AlphaFold |
Q80ZK9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043305
AA Change: V554A
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000040647 Gene: ENSMUSG00000037622 AA Change: V554A
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 benign
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anapc1 |
A |
G |
2: 128,476,598 (GRCm39) |
M1340T |
probably benign |
Het |
Arhgef15 |
A |
G |
11: 68,842,233 (GRCm39) |
L457P |
probably damaging |
Het |
Arih2 |
A |
T |
9: 108,486,986 (GRCm39) |
C317S |
probably damaging |
Het |
Asb14 |
A |
T |
14: 26,633,793 (GRCm39) |
T333S |
probably damaging |
Het |
Atp13a4 |
T |
C |
16: 29,227,821 (GRCm39) |
N1012S |
|
Het |
Capn9 |
C |
A |
8: 125,332,449 (GRCm39) |
D429E |
probably benign |
Het |
Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
Cntrob |
C |
T |
11: 69,193,741 (GRCm39) |
R803Q |
possibly damaging |
Het |
Dnah8 |
A |
G |
17: 31,029,297 (GRCm39) |
I4089V |
probably benign |
Het |
Fam162b |
A |
G |
10: 51,466,155 (GRCm39) |
|
probably null |
Het |
Fhod3 |
A |
G |
18: 25,102,244 (GRCm39) |
D180G |
probably damaging |
Het |
Gtf3c4 |
A |
G |
2: 28,723,966 (GRCm39) |
S589P |
possibly damaging |
Het |
Jcad |
T |
C |
18: 4,673,912 (GRCm39) |
L558P |
probably damaging |
Het |
Kmt2d |
A |
G |
15: 98,737,586 (GRCm39) |
I5170T |
unknown |
Het |
Lamb3 |
T |
C |
1: 193,008,319 (GRCm39) |
F251L |
probably benign |
Het |
Lpxn |
T |
A |
19: 12,802,336 (GRCm39) |
D220E |
probably benign |
Het |
Mex3a |
T |
A |
3: 88,444,480 (GRCm39) |
F519I |
probably damaging |
Het |
Mfap1a |
T |
C |
2: 121,337,001 (GRCm39) |
M8V |
probably benign |
Het |
Mical3 |
T |
A |
6: 120,934,712 (GRCm39) |
D1789V |
probably damaging |
Het |
Mpdz |
G |
A |
4: 81,235,905 (GRCm39) |
Q1211* |
probably null |
Het |
Myd88 |
A |
G |
9: 119,167,070 (GRCm39) |
|
probably null |
Het |
Myof |
T |
A |
19: 37,941,412 (GRCm39) |
K799N |
probably damaging |
Het |
Naip2 |
T |
A |
13: 100,298,243 (GRCm39) |
S598C |
probably damaging |
Het |
Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
Ntn4 |
A |
G |
10: 93,480,488 (GRCm39) |
T71A |
probably benign |
Het |
Omd |
A |
C |
13: 49,745,837 (GRCm39) |
M416L |
probably benign |
Het |
Oog1 |
G |
C |
12: 87,655,086 (GRCm39) |
L411F |
probably damaging |
Het |
Or10a3m |
T |
A |
7: 108,313,042 (GRCm39) |
W161R |
probably damaging |
Het |
Or1e32 |
A |
G |
11: 73,705,143 (GRCm39) |
I255T |
probably damaging |
Het |
Or56a5 |
T |
G |
7: 104,793,498 (GRCm39) |
M7L |
probably benign |
Het |
Or7e171-ps1 |
A |
G |
9: 19,853,200 (GRCm39) |
W179R |
probably benign |
Het |
Pde4dip |
T |
C |
3: 97,660,468 (GRCm39) |
Q670R |
possibly damaging |
Het |
Pex13 |
C |
A |
11: 23,601,034 (GRCm39) |
G272V |
probably damaging |
Het |
Pfkl |
A |
T |
10: 77,824,081 (GRCm39) |
V769D |
probably damaging |
Het |
Pkn3 |
A |
G |
2: 29,968,332 (GRCm39) |
Y10C |
probably benign |
Het |
Pomgnt1 |
A |
G |
4: 116,013,378 (GRCm39) |
H500R |
probably damaging |
Het |
Rasef |
T |
C |
4: 73,645,882 (GRCm39) |
T496A |
probably benign |
Het |
Rgs6 |
A |
G |
12: 83,184,166 (GRCm39) |
S459G |
probably benign |
Het |
Serpinb6b |
A |
T |
13: 33,159,002 (GRCm39) |
M187L |
|
Het |
Shcbp1l |
A |
G |
1: 153,321,627 (GRCm39) |
I408M |
possibly damaging |
Het |
Slc25a45 |
T |
C |
19: 5,934,967 (GRCm39) |
V272A |
probably damaging |
Het |
Tlr4 |
T |
C |
4: 66,746,160 (GRCm39) |
|
probably null |
Het |
Unc80 |
A |
T |
1: 66,550,064 (GRCm39) |
N774I |
|
Het |
Urb2 |
T |
A |
8: 124,756,613 (GRCm39) |
S773R |
possibly damaging |
Het |
Vmn1r35 |
A |
T |
6: 66,656,115 (GRCm39) |
V185E |
probably damaging |
Het |
Vps13d |
A |
C |
4: 144,796,527 (GRCm39) |
V3691G |
|
Het |
Xrn1 |
A |
T |
9: 95,851,527 (GRCm39) |
M182L |
probably damaging |
Het |
Zfp747 |
T |
C |
7: 126,973,198 (GRCm39) |
H324R |
possibly damaging |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCAGTCTCTAGCCTGTAC -3'
(R):5'- GAAGTGGGAACTCATTTGCTTAG -3'
Sequencing Primer
(F):5'- AGGCCCTATGCTCCTTGTGG -3'
(R):5'- GAACTCATTTGCTTAGGAGAGTTC -3'
|
Posted On |
2022-05-16 |