Incidental Mutation 'IGL02127:Wdpcp'
| ID |
280910 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdpcp
|
| Ensembl Gene |
ENSMUSG00000020319 |
| Gene Name |
WD repeat containing planar cell polarity effector |
| Synonyms |
homoloc-13, AV249152 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.932)
|
| Stock # |
IGL02127
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
21521969-21848686 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21661958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 410
(M410K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020568]
|
| AlphaFold |
Q8C456 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020568
AA Change: M410K
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000020568
Gene: ENSMUSG00000020319
AA Change: M410K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3312
|
48 |
591 |
4.4e-278 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143608
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156624
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization. Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for a null mutation display ciliogenesis defects, anophthalmia, cysts in multiple tissues, central polydactyly, duplex kidney, and septation defects in the outflow tract and cloaca. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
A |
T |
7: 28,597,305 (GRCm39) |
M661K |
probably benign |
Het |
| Arpin |
G |
A |
7: 79,577,941 (GRCm39) |
R163W |
probably benign |
Het |
| Atm |
C |
A |
9: 53,399,283 (GRCm39) |
D1573Y |
probably damaging |
Het |
| Avil |
A |
G |
10: 126,847,695 (GRCm39) |
N540S |
probably benign |
Het |
| Btnl6 |
T |
C |
17: 34,733,017 (GRCm39) |
Q282R |
probably benign |
Het |
| Cacna2d3 |
T |
C |
14: 28,785,832 (GRCm39) |
|
probably benign |
Het |
| Cd300ld4 |
T |
C |
11: 114,913,545 (GRCm39) |
N170S |
probably benign |
Het |
| Cgnl1 |
T |
A |
9: 71,633,135 (GRCm39) |
N72I |
probably damaging |
Het |
| Cntnap3 |
T |
C |
13: 64,946,878 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
A |
T |
4: 63,143,379 (GRCm39) |
T356S |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp2c69 |
G |
T |
19: 39,839,501 (GRCm39) |
T374N |
probably damaging |
Het |
| Cyp2d26 |
T |
C |
15: 82,675,307 (GRCm39) |
E349G |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,026,885 (GRCm39) |
E713G |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,179,035 (GRCm39) |
T903S |
probably benign |
Het |
| Enthd1 |
T |
C |
15: 80,336,943 (GRCm39) |
D497G |
probably damaging |
Het |
| Grk4 |
C |
T |
5: 34,867,530 (GRCm39) |
T165I |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,598,358 (GRCm39) |
S1648L |
probably benign |
Het |
| Ints11 |
A |
G |
4: 155,971,320 (GRCm39) |
Y278C |
probably damaging |
Het |
| Kcnu1 |
T |
C |
8: 26,382,090 (GRCm39) |
L480P |
probably damaging |
Het |
| Kif5c |
G |
A |
2: 49,591,122 (GRCm39) |
|
probably null |
Het |
| Kifbp |
C |
T |
10: 62,414,128 (GRCm39) |
R10H |
probably benign |
Het |
| Klhl35 |
T |
C |
7: 99,120,888 (GRCm39) |
|
probably benign |
Het |
| Lemd3 |
A |
T |
10: 120,761,933 (GRCm39) |
D807E |
possibly damaging |
Het |
| Lrrc37a |
G |
A |
11: 103,395,365 (GRCm39) |
T20I |
probably benign |
Het |
| Mab21l1 |
C |
T |
3: 55,691,016 (GRCm39) |
A201V |
probably benign |
Het |
| Mab21l2 |
T |
C |
3: 86,454,124 (GRCm39) |
D292G |
possibly damaging |
Het |
| Map3k21 |
T |
C |
8: 126,668,886 (GRCm39) |
L824P |
probably benign |
Het |
| Myo5a |
T |
C |
9: 75,120,263 (GRCm39) |
V1687A |
probably benign |
Het |
| Myo5c |
G |
T |
9: 75,208,184 (GRCm39) |
W1639C |
probably damaging |
Het |
| Nfya |
G |
T |
17: 48,700,283 (GRCm39) |
|
probably benign |
Het |
| Or4a76 |
A |
G |
2: 89,461,098 (GRCm39) |
I48T |
probably damaging |
Het |
| Papolg |
A |
G |
11: 23,820,870 (GRCm39) |
|
probably benign |
Het |
| Pcdh8 |
G |
A |
14: 80,006,686 (GRCm39) |
R626C |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,815,159 (GRCm39) |
|
probably benign |
Het |
| Pogz |
T |
C |
3: 94,782,014 (GRCm39) |
|
probably benign |
Het |
| Polg |
G |
A |
7: 79,107,915 (GRCm39) |
|
probably benign |
Het |
| Scn9a |
A |
G |
2: 66,377,479 (GRCm39) |
V401A |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,325,170 (GRCm39) |
I1317K |
probably damaging |
Het |
| St7 |
T |
A |
6: 17,844,968 (GRCm39) |
|
probably benign |
Het |
| Tdo2 |
C |
T |
3: 81,866,232 (GRCm39) |
V344M |
probably damaging |
Het |
| Trmt1 |
T |
C |
8: 85,424,100 (GRCm39) |
V400A |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,753,243 (GRCm39) |
N1856S |
probably benign |
Het |
| Ube3a |
G |
A |
7: 58,925,789 (GRCm39) |
G210D |
probably benign |
Het |
| Ubqln5 |
A |
G |
7: 103,778,689 (GRCm39) |
V45A |
probably damaging |
Het |
| Xpa |
G |
A |
4: 46,185,606 (GRCm39) |
T124M |
probably damaging |
Het |
| Zpbp2 |
A |
G |
11: 98,446,367 (GRCm39) |
E172G |
probably damaging |
Het |
|
| Other mutations in Wdpcp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00823:Wdpcp
|
APN |
11 |
21,609,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01322:Wdpcp
|
APN |
11 |
21,661,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01876:Wdpcp
|
APN |
11 |
21,763,383 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01879:Wdpcp
|
APN |
11 |
21,661,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01913:Wdpcp
|
APN |
11 |
21,698,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03326:Wdpcp
|
APN |
11 |
21,835,048 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0040:Wdpcp
|
UTSW |
11 |
21,661,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0040:Wdpcp
|
UTSW |
11 |
21,661,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0142:Wdpcp
|
UTSW |
11 |
21,807,444 (GRCm39) |
splice site |
probably null |
|
|
R2159:Wdpcp
|
UTSW |
11 |
21,807,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2163:Wdpcp
|
UTSW |
11 |
21,835,015 (GRCm39) |
nonsense |
probably null |
|
|
R2165:Wdpcp
|
UTSW |
11 |
21,641,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4239:Wdpcp
|
UTSW |
11 |
21,645,271 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4239:Wdpcp
|
UTSW |
11 |
21,645,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4636:Wdpcp
|
UTSW |
11 |
21,661,568 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5558:Wdpcp
|
UTSW |
11 |
21,661,732 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6493:Wdpcp
|
UTSW |
11 |
21,661,631 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6678:Wdpcp
|
UTSW |
11 |
21,671,105 (GRCm39) |
missense |
probably benign |
|
|
R6762:Wdpcp
|
UTSW |
11 |
21,671,244 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6957:Wdpcp
|
UTSW |
11 |
21,671,154 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7380:Wdpcp
|
UTSW |
11 |
21,661,585 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7458:Wdpcp
|
UTSW |
11 |
21,698,919 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7876:Wdpcp
|
UTSW |
11 |
21,661,486 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8351:Wdpcp
|
UTSW |
11 |
21,698,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8503:Wdpcp
|
UTSW |
11 |
21,671,205 (GRCm39) |
nonsense |
probably null |
|
|
R8670:Wdpcp
|
UTSW |
11 |
21,645,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8710:Wdpcp
|
UTSW |
11 |
21,610,924 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9072:Wdpcp
|
UTSW |
11 |
21,614,014 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9188:Wdpcp
|
UTSW |
11 |
21,610,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9242:Wdpcp
|
UTSW |
11 |
21,835,040 (GRCm39) |
missense |
probably benign |
|
|
R9332:Wdpcp
|
UTSW |
11 |
21,661,522 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9673:Wdpcp
|
UTSW |
11 |
21,671,285 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
RF021:Wdpcp
|
UTSW |
11 |
21,661,587 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation