Incidental Mutation 'R8431:Wdtc1'
| ID |
653740 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdtc1
|
| Ensembl Gene |
ENSMUSG00000037622 |
| Gene Name |
WD and tetratricopeptide repeats 1 |
| Synonyms |
adp, adipose, LOC230796 |
| MMRRC Submission |
067776-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8431 (G1)
|
| Quality Score |
209.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
133019770-133080792 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 133049481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043305]
[ENSMUST00000105906]
|
| AlphaFold |
Q80ZK9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000043305
|
| SMART Domains |
Protein: ENSMUSP00000040647
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 |
|
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: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
A |
G |
8: 124,694,873 (GRCm39) |
F273S |
|
Het |
| Abhd14b |
G |
T |
9: 106,328,612 (GRCm39) |
A78S |
probably benign |
Het |
| Adamtsl5 |
G |
A |
10: 80,181,228 (GRCm39) |
P51L |
probably benign |
Het |
| Adap1 |
A |
C |
5: 139,259,180 (GRCm39) |
F336V |
probably benign |
Het |
| Ankrd33b |
T |
C |
15: 31,305,248 (GRCm39) |
N172S |
probably damaging |
Het |
| Arhgap24 |
A |
G |
5: 103,040,464 (GRCm39) |
E560G |
possibly damaging |
Het |
| Ascc2 |
A |
T |
11: 4,614,227 (GRCm39) |
|
probably null |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Card6 |
A |
T |
15: 5,129,758 (GRCm39) |
F546Y |
probably damaging |
Het |
| Cby3 |
T |
G |
11: 50,250,084 (GRCm39) |
S2A |
probably damaging |
Het |
| Cct3 |
T |
C |
3: 88,225,831 (GRCm39) |
S385P |
possibly damaging |
Het |
| Cfap65 |
C |
T |
1: 74,967,203 (GRCm39) |
G249R |
probably benign |
Het |
| Cpne3 |
C |
A |
4: 19,526,316 (GRCm39) |
A408S |
probably damaging |
Het |
| Ctsr |
A |
C |
13: 61,308,304 (GRCm39) |
L280R |
probably damaging |
Het |
| D930048N14Rik |
GGG |
GGGG |
11: 51,541,946 (GRCm39) |
|
probably null |
Het |
| Dlg4 |
A |
G |
11: 69,930,388 (GRCm39) |
I388V |
probably benign |
Het |
| Ednrb |
T |
A |
14: 104,080,633 (GRCm39) |
I94F |
probably benign |
Het |
| Eftud2 |
C |
A |
11: 102,737,062 (GRCm39) |
A573S |
probably benign |
Het |
| Fsip2 |
C |
A |
2: 82,811,910 (GRCm39) |
P2743Q |
probably damaging |
Het |
| Gp2 |
C |
T |
7: 119,042,010 (GRCm39) |
C505Y |
probably benign |
Het |
| Ier5 |
C |
A |
1: 154,974,306 (GRCm39) |
D291Y |
probably benign |
Het |
| Ifi207 |
T |
C |
1: 173,558,070 (GRCm39) |
I223V |
unknown |
Het |
| Ifi208 |
T |
C |
1: 173,510,844 (GRCm39) |
V333A |
possibly damaging |
Het |
| Kank4 |
T |
C |
4: 98,667,509 (GRCm39) |
I313V |
probably benign |
Het |
| Klhl7 |
T |
C |
5: 24,343,473 (GRCm39) |
V263A |
possibly damaging |
Het |
| Klrg2 |
T |
C |
6: 38,605,122 (GRCm39) |
D314G |
probably benign |
Het |
| Lrr1 |
T |
C |
12: 69,225,470 (GRCm39) |
M382T |
possibly damaging |
Het |
| Ly6e |
A |
T |
15: 74,830,190 (GRCm39) |
Q48L |
probably benign |
Het |
| Marchf6 |
C |
T |
15: 31,505,892 (GRCm39) |
W43* |
probably null |
Het |
| Mepe |
A |
G |
5: 104,486,047 (GRCm39) |
T396A |
possibly damaging |
Het |
| Myh8 |
T |
G |
11: 67,174,440 (GRCm39) |
L229R |
possibly damaging |
Het |
| Ndufa10 |
C |
G |
1: 92,379,732 (GRCm39) |
|
probably null |
Het |
| Nek1 |
C |
A |
8: 61,487,066 (GRCm39) |
A272E |
possibly damaging |
Het |
| Nr1h2 |
T |
C |
7: 44,199,767 (GRCm39) |
Y384C |
probably damaging |
Het |
| Or4c118 |
C |
A |
2: 88,974,723 (GRCm39) |
V215F |
probably benign |
Het |
| Pcnx3 |
C |
T |
19: 5,715,412 (GRCm39) |
G1946E |
probably damaging |
Het |
| Phf2 |
A |
G |
13: 48,975,078 (GRCm39) |
F294S |
unknown |
Het |
| Polr3e |
A |
T |
7: 120,530,528 (GRCm39) |
I173F |
probably damaging |
Het |
| Ppfia2 |
A |
T |
10: 106,671,952 (GRCm39) |
R464* |
probably null |
Het |
| Ppp1r9a |
T |
A |
6: 5,115,456 (GRCm39) |
S860T |
probably benign |
Het |
| Rnf144a |
T |
C |
12: 26,377,300 (GRCm39) |
Y93C |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,673,894 (GRCm39) |
E3390G |
probably benign |
Het |
| Scn7a |
T |
C |
2: 66,534,164 (GRCm39) |
T504A |
possibly damaging |
Het |
| Slc26a5 |
T |
G |
5: 22,018,904 (GRCm39) |
D645A |
probably damaging |
Het |
| Sp140l2 |
G |
A |
1: 85,235,170 (GRCm39) |
H130Y |
probably benign |
Het |
| Ston2 |
T |
A |
12: 91,615,071 (GRCm39) |
I446F |
probably damaging |
Het |
| Tcp11l1 |
G |
A |
2: 104,530,314 (GRCm39) |
P57S |
probably damaging |
Het |
| Th |
G |
T |
7: 142,446,801 (GRCm39) |
H488Q |
probably benign |
Het |
| Tmprss4 |
A |
T |
9: 45,095,661 (GRCm39) |
I61N |
probably benign |
Het |
| Xpnpep1 |
T |
C |
19: 52,983,937 (GRCm39) |
N596S |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGCATACAAGTAAGGACCTC -3'
(R):5'- GACACTAGGCATGCACATGGT -3'
Sequencing Primer
(F):5'- TCTACAGAGTGAGTTCCAGGAC -3'
(R):5'- CATGCACATGGTGTCCAGATG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation