Incidental Mutation 'IGL01322:Wdpcp'
| ID |
74089 |
| 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: 0.925)
|
| Stock # |
IGL01322
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
21521969-21848686 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21661949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 407
(L407P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020568]
|
| AlphaFold |
Q8C456 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020568
AA Change: L407P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020568
Gene: ENSMUSG00000020319
AA Change: L407P
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
A |
7: 120,038,422 (GRCm39) |
L368Q |
probably damaging |
Het |
| Abca2 |
T |
A |
2: 25,336,794 (GRCm39) |
|
probably null |
Het |
| Ano7 |
T |
A |
1: 93,323,230 (GRCm39) |
V497D |
probably benign |
Het |
| B4gat1 |
T |
C |
19: 5,090,037 (GRCm39) |
Y345H |
probably damaging |
Het |
| Bckdha |
T |
A |
7: 25,358,132 (GRCm39) |
R12W |
possibly damaging |
Het |
| Bcl7c |
T |
A |
7: 127,306,608 (GRCm39) |
N93Y |
probably damaging |
Het |
| Cc2d2a |
C |
A |
5: 43,846,345 (GRCm39) |
T368K |
probably benign |
Het |
| Chek1 |
G |
A |
9: 36,629,717 (GRCm39) |
Q210* |
probably null |
Het |
| Chrdl2 |
A |
G |
7: 99,666,248 (GRCm39) |
Y56C |
probably damaging |
Het |
| Cspg4 |
T |
A |
9: 56,805,872 (GRCm39) |
F2228I |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,473,205 (GRCm39) |
M3474V |
probably benign |
Het |
| Dph7 |
T |
C |
2: 24,855,629 (GRCm39) |
S143P |
possibly damaging |
Het |
| Ehbp1 |
T |
A |
11: 22,039,636 (GRCm39) |
K821N |
probably damaging |
Het |
| Eomes |
T |
C |
9: 118,313,898 (GRCm39) |
S648P |
probably benign |
Het |
| Fam20a |
A |
G |
11: 109,573,738 (GRCm39) |
V215A |
probably damaging |
Het |
| Fer1l4 |
T |
A |
2: 155,862,259 (GRCm39) |
|
probably null |
Het |
| Frem2 |
A |
G |
3: 53,448,459 (GRCm39) |
V2319A |
probably benign |
Het |
| Gtf3c4 |
T |
C |
2: 28,723,584 (GRCm39) |
D575G |
probably benign |
Het |
| Ifit1bl2 |
A |
G |
19: 34,596,404 (GRCm39) |
V404A |
probably benign |
Het |
| Kcnf1 |
T |
C |
12: 17,225,349 (GRCm39) |
M291V |
probably benign |
Het |
| Klra1 |
T |
A |
6: 130,341,224 (GRCm39) |
I250F |
probably benign |
Het |
| Klra4 |
T |
A |
6: 130,038,985 (GRCm39) |
T136S |
probably benign |
Het |
| Mcrs1 |
A |
T |
15: 99,141,266 (GRCm39) |
I399N |
probably damaging |
Het |
| Neo1 |
T |
C |
9: 58,814,368 (GRCm39) |
E866G |
possibly damaging |
Het |
| Notch3 |
T |
C |
17: 32,363,445 (GRCm39) |
D1206G |
probably damaging |
Het |
| Or10ab4 |
A |
G |
7: 107,654,188 (GRCm39) |
|
probably benign |
Het |
| Or14c43 |
T |
A |
7: 86,115,480 (GRCm39) |
I287N |
probably damaging |
Het |
| Or4z4 |
A |
C |
19: 12,076,769 (GRCm39) |
V78G |
probably benign |
Het |
| Or5ae1 |
T |
A |
7: 84,565,590 (GRCm39) |
V201E |
probably damaging |
Het |
| Or5b95 |
A |
C |
19: 12,658,113 (GRCm39) |
I214L |
probably benign |
Het |
| Or6c210 |
A |
G |
10: 129,495,995 (GRCm39) |
T107A |
probably benign |
Het |
| Pnkd |
A |
G |
1: 74,390,716 (GRCm39) |
N336D |
probably damaging |
Het |
| Prag1 |
T |
C |
8: 36,571,088 (GRCm39) |
V557A |
probably benign |
Het |
| Ptgfr |
A |
C |
3: 151,541,323 (GRCm39) |
S62A |
probably benign |
Het |
| Smc2 |
A |
G |
4: 52,450,842 (GRCm39) |
Y220C |
probably damaging |
Het |
| Sufu |
G |
A |
19: 46,439,382 (GRCm39) |
E246K |
probably damaging |
Het |
| Sult2a1 |
T |
A |
7: 13,566,604 (GRCm39) |
R124* |
probably null |
Het |
| Sult4a1 |
T |
A |
15: 83,970,817 (GRCm39) |
Y196F |
possibly damaging |
Het |
| Trim15 |
G |
A |
17: 37,175,975 (GRCm39) |
R191W |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,773,319 (GRCm39) |
V2361A |
possibly damaging |
Het |
| Usp16 |
T |
C |
16: 87,263,164 (GRCm39) |
V122A |
possibly damaging |
Het |
| Vmn1r122 |
T |
A |
7: 20,868,036 (GRCm39) |
K6N |
probably benign |
Het |
| Vmn1r34 |
G |
A |
6: 66,613,899 (GRCm39) |
Q280* |
probably null |
Het |
| Vmn2r45 |
T |
A |
7: 8,484,332 (GRCm39) |
H491L |
possibly damaging |
Het |
| Zfp157 |
T |
C |
5: 138,445,840 (GRCm39) |
I65T |
probably benign |
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 |
|
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 |
|
IGL02127:Wdpcp
|
APN |
11 |
21,661,958 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
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 |
2013-10-07 |
Incidental Mutation