Incidental Mutation 'R5193:Wdtc1'
| ID |
399819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdtc1
|
| Ensembl Gene |
ENSMUSG00000037622 |
| Gene Name |
WD and tetratricopeptide repeats 1 |
| Synonyms |
adp, adipose, LOC230796 |
| MMRRC Submission |
042769-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5193 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
133019770-133080792 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 133021678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 619
(R619*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043305]
[ENSMUST00000105906]
|
| AlphaFold |
Q80ZK9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000043305
AA Change: R619*
|
| SMART Domains |
Protein: ENSMUSP00000040647
Gene: ENSMUSG00000037622
AA Change: R619*
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
A |
T |
2: 150,677,226 (GRCm39) |
*56R |
probably null |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Arfgap3 |
C |
T |
15: 83,216,898 (GRCm39) |
A156T |
probably benign |
Het |
| Bpifc |
T |
C |
10: 85,836,497 (GRCm39) |
T3A |
probably benign |
Het |
| Ccdc7a |
T |
A |
8: 129,715,278 (GRCm39) |
I269L |
probably benign |
Het |
| Cd151 |
A |
G |
7: 141,050,606 (GRCm39) |
Y253C |
probably damaging |
Het |
| Cenpl |
C |
A |
1: 160,911,037 (GRCm39) |
S328* |
probably null |
Het |
| Cfl1 |
T |
A |
19: 5,542,580 (GRCm39) |
V20D |
probably damaging |
Het |
| Clec14a |
A |
G |
12: 58,315,400 (GRCm39) |
L74P |
probably damaging |
Het |
| Cnn1 |
A |
T |
9: 22,019,132 (GRCm39) |
D196V |
probably damaging |
Het |
| Cst13 |
C |
A |
2: 148,670,143 (GRCm39) |
C104* |
probably null |
Het |
| Det1 |
A |
G |
7: 78,493,302 (GRCm39) |
V234A |
probably damaging |
Het |
| Efnb2 |
A |
G |
8: 8,673,162 (GRCm39) |
M165T |
probably damaging |
Het |
| Fbxo10 |
T |
A |
4: 45,051,573 (GRCm39) |
K339* |
probably null |
Het |
| Fnta |
A |
T |
8: 26,501,246 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,813,338 (GRCm39) |
Y3219F |
possibly damaging |
Het |
| Gprin2 |
C |
T |
14: 33,916,832 (GRCm39) |
V313M |
possibly damaging |
Het |
| Hars1 |
A |
G |
18: 36,900,358 (GRCm39) |
L448S |
possibly damaging |
Het |
| Hipk3 |
A |
G |
2: 104,260,345 (GRCm39) |
I1166T |
possibly damaging |
Het |
| Il31ra |
T |
C |
13: 112,660,864 (GRCm39) |
E602G |
probably benign |
Het |
| Kctd15 |
A |
G |
7: 34,344,282 (GRCm39) |
L123P |
probably damaging |
Het |
| Kifbp |
T |
C |
10: 62,395,175 (GRCm39) |
D489G |
possibly damaging |
Het |
| Krt1 |
C |
A |
15: 101,754,357 (GRCm39) |
S631I |
unknown |
Het |
| Lancl1 |
T |
A |
1: 67,060,173 (GRCm39) |
Y84F |
probably benign |
Het |
| Lcor |
A |
G |
19: 41,570,969 (GRCm39) |
D54G |
probably damaging |
Het |
| Mafa |
G |
T |
15: 75,619,666 (GRCm39) |
P36T |
unknown |
Het |
| Magi2 |
G |
A |
5: 20,563,970 (GRCm39) |
|
probably null |
Het |
| Mcm9 |
T |
A |
10: 53,492,134 (GRCm39) |
I396F |
probably damaging |
Het |
| Mrgprh |
T |
C |
17: 13,095,942 (GRCm39) |
F61L |
probably damaging |
Het |
| Or10g1b |
A |
G |
14: 52,628,069 (GRCm39) |
W54R |
probably benign |
Het |
| Or1e16 |
TAGCGGTCGTA |
T |
11: 73,286,479 (GRCm39) |
|
probably null |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or51a7 |
T |
A |
7: 102,615,143 (GRCm39) |
F279I |
possibly damaging |
Het |
| Or5w17 |
A |
T |
2: 87,583,448 (GRCm39) |
D296E |
possibly damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,542,174 (GRCm39) |
T806S |
possibly damaging |
Het |
| Pigc |
T |
C |
1: 161,798,465 (GRCm39) |
I149T |
possibly damaging |
Het |
| Pou5f2 |
C |
A |
13: 78,173,083 (GRCm39) |
N8K |
probably benign |
Het |
| Pou6f2 |
T |
C |
13: 18,300,129 (GRCm39) |
|
probably benign |
Het |
| Prl3d2 |
T |
A |
13: 27,306,312 (GRCm39) |
M13K |
possibly damaging |
Het |
| Pzp |
T |
C |
6: 128,479,297 (GRCm39) |
N619D |
probably benign |
Het |
| Rnps1 |
G |
A |
17: 24,637,517 (GRCm39) |
S53N |
probably benign |
Het |
| Scaf8 |
C |
G |
17: 3,240,440 (GRCm39) |
A604G |
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,438,721 (GRCm39) |
N1716S |
probably damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc34a1 |
A |
G |
13: 24,003,845 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
G |
12: 76,141,194 (GRCm39) |
D6102G |
probably damaging |
Het |
| Tbc1d16 |
A |
T |
11: 119,049,646 (GRCm39) |
D283E |
probably benign |
Het |
| Tet1 |
T |
C |
10: 62,674,026 (GRCm39) |
D1350G |
probably benign |
Het |
| Trpa1 |
A |
G |
1: 14,946,141 (GRCm39) |
Y997H |
possibly damaging |
Het |
| Tyro3 |
T |
C |
2: 119,640,998 (GRCm39) |
L494P |
probably damaging |
Het |
| Uba6 |
G |
T |
5: 86,272,281 (GRCm39) |
Q803K |
probably benign |
Het |
| Vgll2 |
T |
A |
10: 51,904,088 (GRCm39) |
L317Q |
possibly damaging |
Het |
| Wdr62 |
A |
T |
7: 29,964,592 (GRCm39) |
I384N |
probably damaging |
Het |
| Xkr6 |
A |
G |
14: 64,056,356 (GRCm39) |
D89G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGAAAGCCAGCAAGTTGC -3'
(R):5'- ACCTTAGATACCCCAGTGTGC -3'
Sequencing Primer
(F):5'- GCAAGTTGCAGCAATCCC -3'
(R):5'- AGATACCCCAGTGTGCTCTTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation