Incidental Mutation 'R6817:Wdr41'
| ID |
537397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr41
|
| Ensembl Gene |
ENSMUSG00000042015 |
| Gene Name |
WD repeat domain 41 |
| Synonyms |
MSTP048, B830029I03Rik |
| MMRRC Submission |
044929-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6817 (G1)
|
| Quality Score |
126.008 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
95112852-95159822 bp(+) (GRCm39) |
| Type of Mutation |
splice site (116 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 95133812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056512]
[ENSMUST00000159647]
[ENSMUST00000160115]
[ENSMUST00000160801]
[ENSMUST00000167155]
[ENSMUST00000222995]
|
| AlphaFold |
Q3UDP0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000056512
|
| SMART Domains |
Protein: ENSMUSP00000055145
Gene: ENSMUSG00000042015
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
32 |
70 |
4.48e-2 |
SMART |
|
WD40
|
73 |
119 |
1.24e-4 |
SMART |
|
WD40
|
122 |
159 |
1.28e1 |
SMART |
|
WD40
|
211 |
249 |
2.86e0 |
SMART |
|
WD40
|
308 |
350 |
7.92e-3 |
SMART |
|
WD40
|
394 |
432 |
1.67e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000159647
|
| SMART Domains |
Protein: ENSMUSP00000138501
Gene: ENSMUSG00000042015
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
32 |
70 |
4.48e-2 |
SMART |
|
WD40
|
73 |
119 |
1.24e-4 |
SMART |
|
WD40
|
122 |
159 |
1.28e1 |
SMART |
|
Blast:WD40
|
162 |
199 |
9e-6 |
BLAST |
|
internal_repeat_1
|
233 |
260 |
6.23e-8 |
PROSPERO |
|
internal_repeat_1
|
269 |
309 |
6.23e-8 |
PROSPERO |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000160115
|
| SMART Domains |
Protein: ENSMUSP00000138543
Gene: ENSMUSG00000042015
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
32 |
70 |
4.48e-2 |
SMART |
|
WD40
|
73 |
119 |
1.24e-4 |
SMART |
|
WD40
|
122 |
159 |
1.28e1 |
SMART |
|
Blast:WD40
|
162 |
199 |
1e-5 |
BLAST |
|
internal_repeat_2
|
224 |
281 |
1.46e-11 |
PROSPERO |
|
internal_repeat_1
|
233 |
315 |
2.35e-20 |
PROSPERO |
|
internal_repeat_2
|
306 |
365 |
1.46e-11 |
PROSPERO |
|
internal_repeat_1
|
353 |
435 |
2.35e-20 |
PROSPERO |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000160801
|
| SMART Domains |
Protein: ENSMUSP00000124033
Gene: ENSMUSG00000042015
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
32 |
70 |
4.48e-2 |
SMART |
|
WD40
|
73 |
119 |
1.24e-4 |
SMART |
|
WD40
|
122 |
159 |
1.28e1 |
SMART |
|
WD40
|
211 |
249 |
2.86e0 |
SMART |
|
WD40
|
308 |
350 |
7.92e-3 |
SMART |
|
WD40
|
394 |
432 |
1.67e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000167155
|
| SMART Domains |
Protein: ENSMUSP00000129595
Gene: ENSMUSG00000042015
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
32 |
70 |
4.48e-2 |
SMART |
|
WD40
|
73 |
119 |
1.24e-4 |
SMART |
|
WD40
|
122 |
159 |
1.28e1 |
SMART |
|
Blast:WD40
|
162 |
199 |
9e-6 |
BLAST |
|
internal_repeat_1
|
233 |
260 |
6.23e-8 |
PROSPERO |
|
internal_repeat_1
|
269 |
309 |
6.23e-8 |
PROSPERO |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000222995
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
96% (47/49) |
| MGI Phenotype |
FUNCTION: This gene encodes a protein of unknown function, but which contains a WD40 domain consisting of six WD40 repeats. The WD40 domain is one of the most abundant protein domains in eukaryotes, and is found in proteins with widely varying cellular functions. However, proteins with this domain often provide a rigid scaffold for protein-protein interactions. [provided by RefSeq, Aug 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apeh |
G |
A |
9: 107,969,878 (GRCm39) |
H186Y |
probably damaging |
Het |
| Arhgap21 |
A |
C |
2: 20,885,107 (GRCm39) |
L690R |
probably benign |
Het |
| Asxl3 |
A |
G |
18: 22,656,637 (GRCm39) |
N1549S |
probably benign |
Het |
| Cast |
T |
C |
13: 74,847,277 (GRCm39) |
T670A |
possibly damaging |
Het |
| Cd109 |
A |
G |
9: 78,622,237 (GRCm39) |
D1409G |
probably benign |
Het |
| Cemip |
A |
G |
7: 83,637,200 (GRCm39) |
F311S |
probably damaging |
Het |
| Cfap43 |
T |
A |
19: 47,744,524 (GRCm39) |
I1210F |
possibly damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Cops5 |
G |
A |
1: 10,100,829 (GRCm39) |
L256F |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,402,027 (GRCm39) |
|
probably null |
Het |
| Dab1 |
A |
G |
4: 104,536,743 (GRCm39) |
K178E |
probably damaging |
Het |
| Ddc |
A |
G |
11: 11,774,854 (GRCm39) |
Y346H |
probably damaging |
Het |
| Dlg2 |
T |
G |
7: 91,614,872 (GRCm39) |
D225E |
probably benign |
Het |
| Dsg1b |
A |
T |
18: 20,527,462 (GRCm39) |
I198F |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,049,807 (GRCm39) |
H155R |
probably benign |
Het |
| Epha2 |
A |
G |
4: 141,036,305 (GRCm39) |
H247R |
probably damaging |
Het |
| Esrp1 |
A |
G |
4: 11,357,552 (GRCm39) |
V355A |
probably damaging |
Het |
| Fam78b |
A |
G |
1: 166,906,419 (GRCm39) |
M193V |
possibly damaging |
Het |
| Gdpd4 |
A |
G |
7: 97,607,037 (GRCm39) |
T4A |
probably benign |
Het |
| Gm17175 |
T |
C |
14: 51,810,478 (GRCm39) |
N50D |
possibly damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,173,931 (GRCm39) |
|
probably benign |
Het |
| Lpo |
T |
C |
11: 87,700,067 (GRCm39) |
N525D |
probably benign |
Het |
| Lrrc41 |
G |
A |
4: 115,946,502 (GRCm39) |
E406K |
possibly damaging |
Het |
| Lrrc59 |
G |
C |
11: 94,520,891 (GRCm39) |
D21H |
probably damaging |
Het |
| Mgat4a |
G |
A |
1: 37,488,204 (GRCm39) |
R472* |
probably null |
Het |
| Mroh7 |
C |
T |
4: 106,571,312 (GRCm39) |
A14T |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,416,650 (GRCm39) |
S3199P |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,237,326 (GRCm39) |
Y270F |
probably damaging |
Het |
| Myo18b |
T |
A |
5: 112,978,104 (GRCm39) |
T1273S |
probably benign |
Het |
| Nos2 |
A |
T |
11: 78,836,092 (GRCm39) |
E385V |
possibly damaging |
Het |
| Nsl1 |
T |
G |
1: 190,795,471 (GRCm39) |
|
probably null |
Het |
| Nup93 |
T |
C |
8: 95,041,310 (GRCm39) |
|
probably null |
Het |
| Or5d45 |
A |
T |
2: 88,153,107 (GRCm39) |
M314K |
probably benign |
Het |
| Pcna-ps2 |
T |
G |
19: 9,260,861 (GRCm39) |
M40R |
probably damaging |
Het |
| Pik3r5 |
A |
G |
11: 68,377,407 (GRCm39) |
E148G |
probably damaging |
Het |
| Pirt |
A |
G |
11: 66,816,737 (GRCm39) |
E16G |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,148,944 (GRCm39) |
Y566H |
probably damaging |
Het |
| Psg17 |
A |
C |
7: 18,548,565 (GRCm39) |
V402G |
probably damaging |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
| Rassf7 |
A |
G |
7: 140,797,360 (GRCm39) |
E191G |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,353,111 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
C |
T |
5: 53,221,370 (GRCm39) |
T272I |
probably damaging |
Het |
| Sos2 |
T |
C |
12: 69,664,935 (GRCm39) |
E332G |
probably benign |
Het |
| Spdye4c |
T |
C |
2: 128,438,430 (GRCm39) |
Y263H |
probably damaging |
Het |
| Tmprss11f |
C |
T |
5: 86,704,793 (GRCm39) |
V42I |
probably benign |
Het |
| Trpv5 |
T |
A |
6: 41,634,941 (GRCm39) |
N463Y |
possibly damaging |
Het |
| Ush2a |
A |
T |
1: 188,595,061 (GRCm39) |
Q3831L |
probably benign |
Het |
| Zfand1 |
A |
G |
3: 10,405,884 (GRCm39) |
C246R |
probably benign |
Het |
|
| Other mutations in Wdr41 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02096:Wdr41
|
APN |
13 |
95,153,964 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02813:Wdr41
|
APN |
13 |
95,131,753 (GRCm39) |
splice site |
probably null |
|
|
gogi
|
UTSW |
13 |
95,151,725 (GRCm39) |
critical splice donor site |
probably null |
|
|
metallica
|
UTSW |
13 |
95,151,682 (GRCm39) |
nonsense |
probably null |
|
|
R0047:Wdr41
|
UTSW |
13 |
95,146,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0110:Wdr41
|
UTSW |
13 |
95,154,619 (GRCm39) |
unclassified |
probably benign |
|
|
R0243:Wdr41
|
UTSW |
13 |
95,153,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0537:Wdr41
|
UTSW |
13 |
95,131,813 (GRCm39) |
splice site |
probably benign |
|
|
R2025:Wdr41
|
UTSW |
13 |
95,155,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Wdr41
|
UTSW |
13 |
95,151,537 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3953:Wdr41
|
UTSW |
13 |
95,133,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4886:Wdr41
|
UTSW |
13 |
95,151,682 (GRCm39) |
nonsense |
probably null |
|
|
R5055:Wdr41
|
UTSW |
13 |
95,151,725 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5266:Wdr41
|
UTSW |
13 |
95,131,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5276:Wdr41
|
UTSW |
13 |
95,153,958 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5738:Wdr41
|
UTSW |
13 |
95,114,996 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5957:Wdr41
|
UTSW |
13 |
95,133,695 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6682:Wdr41
|
UTSW |
13 |
95,149,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6815:Wdr41
|
UTSW |
13 |
95,154,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7582:Wdr41
|
UTSW |
13 |
95,142,275 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7832:Wdr41
|
UTSW |
13 |
95,151,701 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8003:Wdr41
|
UTSW |
13 |
95,149,654 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8076:Wdr41
|
UTSW |
13 |
95,153,838 (GRCm39) |
missense |
probably benign |
|
|
R8796:Wdr41
|
UTSW |
13 |
95,151,575 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8919:Wdr41
|
UTSW |
13 |
95,151,620 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9715:Wdr41
|
UTSW |
13 |
95,145,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9723:Wdr41
|
UTSW |
13 |
95,151,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGAACTCAGAGGACACACTC -3'
(R):5'- TCATACACGAGGGCGAAATTG -3'
Sequencing Primer
(F):5'- CTCAGAAGATAACGGCTGTCATTGC -3'
(R):5'- GGGCGAAATTGATTATTTTCCAGTCC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation