Incidental Mutation 'R8127:Wdtc1'
| ID |
631803 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdtc1
|
| Ensembl Gene |
ENSMUSG00000037622 |
| Gene Name |
WD and tetratricopeptide repeats 1 |
| Synonyms |
adp, adipose, LOC230796 |
| MMRRC Submission |
067556-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8127 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
133019770-133080792 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 133029693 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 null
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 |
|
| Meta Mutation Damage Score |
0.9592 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 97.0%
|
| Validation Efficiency |
100% (45/45) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
C |
5: 144,980,249 (GRCm39) |
M66T |
possibly damaging |
Het |
| Acvr1 |
A |
T |
2: 58,367,638 (GRCm39) |
N174K |
probably benign |
Het |
| Ago1 |
A |
T |
4: 126,348,214 (GRCm39) |
C342S |
possibly damaging |
Het |
| Anapc1 |
A |
G |
2: 128,474,547 (GRCm39) |
S1423P |
probably damaging |
Het |
| Antxr2 |
A |
T |
5: 98,127,876 (GRCm39) |
C218* |
probably null |
Het |
| Arsa |
A |
G |
15: 89,359,067 (GRCm39) |
Y200H |
probably damaging |
Het |
| Atad3a |
C |
T |
4: 155,838,396 (GRCm39) |
R207Q |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,735,701 (GRCm39) |
D551G |
probably damaging |
Het |
| Cdk9 |
A |
G |
2: 32,598,009 (GRCm39) |
I349T |
probably benign |
Het |
| Cmya5 |
A |
T |
13: 93,231,122 (GRCm39) |
V1322E |
probably damaging |
Het |
| Col4a3 |
T |
A |
1: 82,627,481 (GRCm39) |
I95K |
unknown |
Het |
| Dab2ip |
T |
C |
2: 35,534,138 (GRCm39) |
|
probably benign |
Het |
| Dnaaf6rt |
T |
C |
1: 31,262,201 (GRCm39) |
F61S |
probably benign |
Het |
| Dok7 |
A |
G |
5: 35,244,345 (GRCm39) |
S530G |
probably benign |
Het |
| Dst |
C |
T |
1: 34,217,310 (GRCm39) |
T1250M |
probably damaging |
Het |
| Dzank1 |
A |
C |
2: 144,330,736 (GRCm39) |
W439G |
probably damaging |
Het |
| Evx1 |
T |
A |
6: 52,290,902 (GRCm39) |
S25T |
possibly damaging |
Het |
| Fut10 |
G |
A |
8: 31,684,999 (GRCm39) |
|
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Hyal5 |
C |
A |
6: 24,891,487 (GRCm39) |
R434S |
probably benign |
Het |
| Lrrc43 |
C |
T |
5: 123,630,334 (GRCm39) |
P66S |
probably damaging |
Het |
| Mib1 |
T |
A |
18: 10,741,031 (GRCm39) |
I93N |
probably damaging |
Het |
| Mug2 |
G |
A |
6: 122,052,567 (GRCm39) |
E1038K |
probably benign |
Het |
| Nsd2 |
T |
A |
5: 34,042,834 (GRCm39) |
C1033S |
probably damaging |
Het |
| Or6k4 |
C |
T |
1: 173,965,155 (GRCm39) |
P282S |
probably damaging |
Het |
| Or8d4 |
T |
A |
9: 40,038,360 (GRCm39) |
H299L |
probably benign |
Het |
| Otogl |
A |
T |
10: 107,731,613 (GRCm39) |
F176Y |
probably damaging |
Het |
| Polr3b |
A |
G |
10: 84,515,653 (GRCm39) |
K609E |
probably benign |
Het |
| Prdm15 |
T |
C |
16: 97,638,910 (GRCm39) |
N50S |
probably benign |
Het |
| Rlf |
G |
T |
4: 121,005,093 (GRCm39) |
Q1406K |
possibly damaging |
Het |
| Rusc2 |
T |
C |
4: 43,423,747 (GRCm39) |
V1023A |
possibly damaging |
Het |
| Scn11a |
C |
T |
9: 119,633,578 (GRCm39) |
G385D |
probably damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,528,714 (GRCm39) |
S155P |
probably benign |
Het |
| Spam1 |
T |
A |
6: 24,796,970 (GRCm39) |
V307D |
possibly damaging |
Het |
| Srgap1 |
A |
C |
10: 121,691,271 (GRCm39) |
M321R |
probably null |
Het |
| Stam |
A |
G |
2: 14,122,284 (GRCm39) |
I128V |
probably damaging |
Het |
| Sytl2 |
A |
G |
7: 90,024,798 (GRCm39) |
D262G |
possibly damaging |
Het |
| Taf2 |
G |
A |
15: 54,923,384 (GRCm39) |
R298C |
probably damaging |
Het |
| Tcl1b5 |
A |
T |
12: 105,146,262 (GRCm39) |
T112S |
probably benign |
Het |
| Trim33 |
T |
C |
3: 103,239,043 (GRCm39) |
S674P |
possibly damaging |
Het |
| Trip12 |
T |
C |
1: 84,716,463 (GRCm39) |
N1602S |
probably damaging |
Het |
| Vmn1r44 |
T |
C |
6: 89,870,845 (GRCm39) |
I197T |
probably benign |
Het |
| Zfp583 |
G |
T |
7: 6,326,821 (GRCm39) |
|
probably null |
Het |
| Zfyve16 |
T |
A |
13: 92,642,185 (GRCm39) |
I1213F |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCATAAGCCTTGGACAGAGC -3'
(R):5'- TTTCATGGTCCCATCTGGCG -3'
Sequencing Primer
(F):5'- TAAGCCTTGGACAGAGCTCTGAC -3'
(R):5'- ATCTGGCGAGCTCTATGGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation