Incidental Mutation 'IGL01758:Cfap52'
ID |
153476 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cfap52
|
Ensembl Gene |
ENSMUSG00000020904 |
Gene Name |
cilia and flagella associated protein 52 |
Synonyms |
Wdr16, 4933417B11Rik, 1700019F09Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.772)
|
Stock # |
IGL01758
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
67815632-67856477 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 67844406 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 103
(L103Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021287
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021287]
[ENSMUST00000126766]
|
AlphaFold |
Q5F201 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021287
AA Change: L103Q
PolyPhen 2
Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000021287 Gene: ENSMUSG00000020904 AA Change: L103Q
Domain | Start | End | E-Value | Type |
WD40
|
53 |
97 |
3.71e-1 |
SMART |
WD40
|
100 |
141 |
3.45e-3 |
SMART |
WD40
|
149 |
186 |
1.03e1 |
SMART |
low complexity region
|
262 |
273 |
N/A |
INTRINSIC |
WD40
|
280 |
318 |
9.86e1 |
SMART |
WD40
|
321 |
360 |
6.6e1 |
SMART |
WD40
|
363 |
402 |
8.56e0 |
SMART |
WD40
|
405 |
445 |
2.27e-3 |
SMART |
WD40
|
450 |
489 |
3.14e-6 |
SMART |
WD40
|
492 |
530 |
9.21e0 |
SMART |
WD40
|
533 |
573 |
6.19e-5 |
SMART |
WD40
|
576 |
615 |
2.15e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126766
AA Change: L103Q
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000116496 Gene: ENSMUSG00000020904 AA Change: L103Q
Domain | Start | End | E-Value | Type |
WD40
|
53 |
97 |
3.71e-1 |
SMART |
WD40
|
100 |
141 |
3.45e-3 |
SMART |
WD40
|
149 |
186 |
1.03e1 |
SMART |
Blast:WD40
|
190 |
233 |
4e-12 |
BLAST |
low complexity region
|
262 |
273 |
N/A |
INTRINSIC |
WD40
|
280 |
318 |
9.86e1 |
SMART |
Blast:WD40
|
321 |
342 |
1e-6 |
BLAST |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, and cell division (Silva et al., 2005 [PubMed 15967112]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
T |
C |
11: 119,901,645 (GRCm39) |
D860G |
possibly damaging |
Het |
Acot7 |
T |
C |
4: 152,302,250 (GRCm39) |
C121R |
probably damaging |
Het |
Adam19 |
A |
T |
11: 46,003,751 (GRCm39) |
H193L |
probably benign |
Het |
AI661453 |
T |
A |
17: 47,777,548 (GRCm39) |
|
probably benign |
Het |
Bod1l |
T |
C |
5: 41,983,953 (GRCm39) |
|
probably benign |
Het |
Brd4 |
T |
C |
17: 32,431,803 (GRCm39) |
|
probably benign |
Het |
Capn12 |
G |
A |
7: 28,586,048 (GRCm39) |
|
probably null |
Het |
Cdh18 |
A |
G |
15: 23,474,269 (GRCm39) |
Q713R |
probably benign |
Het |
Dpy19l4 |
T |
A |
4: 11,265,846 (GRCm39) |
T475S |
probably damaging |
Het |
Dync2i1 |
G |
A |
12: 116,182,418 (GRCm39) |
P728L |
possibly damaging |
Het |
Fat2 |
A |
T |
11: 55,187,035 (GRCm39) |
D1270E |
probably damaging |
Het |
Hfm1 |
T |
C |
5: 107,052,659 (GRCm39) |
K275E |
probably damaging |
Het |
Ift172 |
T |
C |
5: 31,438,058 (GRCm39) |
D426G |
probably benign |
Het |
Mrc1 |
T |
C |
2: 14,243,059 (GRCm39) |
S62P |
probably damaging |
Het |
Or13f5 |
G |
T |
4: 52,825,468 (GRCm39) |
E24* |
probably null |
Het |
Or8b50 |
T |
A |
9: 38,518,589 (GRCm39) |
I276K |
probably damaging |
Het |
Ptgs2 |
A |
T |
1: 149,977,740 (GRCm39) |
|
probably null |
Het |
Rxfp1 |
T |
A |
3: 79,559,523 (GRCm39) |
I433F |
possibly damaging |
Het |
Sbf1 |
C |
T |
15: 89,187,418 (GRCm39) |
|
probably benign |
Het |
Serpinb13 |
T |
G |
1: 106,928,484 (GRCm39) |
F368C |
probably damaging |
Het |
Slc9c1 |
T |
A |
16: 45,361,824 (GRCm39) |
S80R |
probably damaging |
Het |
Spats2l |
G |
T |
1: 57,918,715 (GRCm39) |
V30L |
probably damaging |
Het |
Stat1 |
A |
G |
1: 52,176,080 (GRCm39) |
E195G |
probably damaging |
Het |
Tbx5 |
T |
A |
5: 119,983,023 (GRCm39) |
|
probably benign |
Het |
Tmem165 |
A |
G |
5: 76,352,010 (GRCm39) |
T164A |
probably damaging |
Het |
Trim66 |
A |
T |
7: 109,085,252 (GRCm39) |
|
probably null |
Het |
Trip10 |
T |
A |
17: 57,568,409 (GRCm39) |
V405E |
possibly damaging |
Het |
Vmn2r92 |
T |
A |
17: 18,372,275 (GRCm39) |
C28* |
probably null |
Het |
Zbtb8a |
C |
T |
4: 129,251,640 (GRCm39) |
C277Y |
probably damaging |
Het |
Zfp638 |
T |
C |
6: 83,956,508 (GRCm39) |
F1705S |
probably damaging |
Het |
|
Other mutations in Cfap52 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02034:Cfap52
|
APN |
11 |
67,837,118 (GRCm39) |
splice site |
probably null |
|
IGL02530:Cfap52
|
APN |
11 |
67,845,007 (GRCm39) |
splice site |
probably benign |
|
IGL02558:Cfap52
|
APN |
11 |
67,844,964 (GRCm39) |
missense |
probably benign |
0.31 |
IGL02873:Cfap52
|
APN |
11 |
67,822,608 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02887:Cfap52
|
APN |
11 |
67,844,341 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02956:Cfap52
|
APN |
11 |
67,844,901 (GRCm39) |
missense |
probably benign |
|
IGL03068:Cfap52
|
APN |
11 |
67,826,682 (GRCm39) |
missense |
probably benign |
0.11 |
IGL03216:Cfap52
|
APN |
11 |
67,844,932 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL03287:Cfap52
|
APN |
11 |
67,826,802 (GRCm39) |
unclassified |
probably benign |
|
IGL03370:Cfap52
|
APN |
11 |
67,829,881 (GRCm39) |
missense |
probably damaging |
0.98 |
chewbacca
|
UTSW |
11 |
67,815,951 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0103:Cfap52
|
UTSW |
11 |
67,815,951 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0103:Cfap52
|
UTSW |
11 |
67,815,951 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0244:Cfap52
|
UTSW |
11 |
67,817,208 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0306:Cfap52
|
UTSW |
11 |
67,844,896 (GRCm39) |
missense |
probably benign |
|
R0364:Cfap52
|
UTSW |
11 |
67,844,436 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0440:Cfap52
|
UTSW |
11 |
67,844,914 (GRCm39) |
missense |
probably benign |
|
R0565:Cfap52
|
UTSW |
11 |
67,840,425 (GRCm39) |
missense |
probably benign |
0.00 |
R1068:Cfap52
|
UTSW |
11 |
67,829,830 (GRCm39) |
missense |
probably benign |
0.10 |
R1082:Cfap52
|
UTSW |
11 |
67,815,998 (GRCm39) |
missense |
probably damaging |
0.99 |
R1509:Cfap52
|
UTSW |
11 |
67,829,819 (GRCm39) |
missense |
probably benign |
0.00 |
R1894:Cfap52
|
UTSW |
11 |
67,844,445 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2994:Cfap52
|
UTSW |
11 |
67,830,617 (GRCm39) |
missense |
probably benign |
|
R3954:Cfap52
|
UTSW |
11 |
67,821,691 (GRCm39) |
missense |
probably benign |
|
R4611:Cfap52
|
UTSW |
11 |
67,817,247 (GRCm39) |
missense |
probably damaging |
0.99 |
R4922:Cfap52
|
UTSW |
11 |
67,822,548 (GRCm39) |
critical splice donor site |
probably null |
|
R5624:Cfap52
|
UTSW |
11 |
67,818,184 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5762:Cfap52
|
UTSW |
11 |
67,844,947 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5970:Cfap52
|
UTSW |
11 |
67,821,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R6037:Cfap52
|
UTSW |
11 |
67,837,126 (GRCm39) |
missense |
probably benign |
0.00 |
R6037:Cfap52
|
UTSW |
11 |
67,837,126 (GRCm39) |
missense |
probably benign |
0.00 |
R6260:Cfap52
|
UTSW |
11 |
67,829,780 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7401:Cfap52
|
UTSW |
11 |
67,840,459 (GRCm39) |
missense |
probably benign |
0.02 |
R7580:Cfap52
|
UTSW |
11 |
67,837,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R7831:Cfap52
|
UTSW |
11 |
67,826,782 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7966:Cfap52
|
UTSW |
11 |
67,844,571 (GRCm39) |
splice site |
probably null |
|
R8303:Cfap52
|
UTSW |
11 |
67,830,621 (GRCm39) |
missense |
probably benign |
0.00 |
R8998:Cfap52
|
UTSW |
11 |
67,818,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R8999:Cfap52
|
UTSW |
11 |
67,818,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R9074:Cfap52
|
UTSW |
11 |
67,822,656 (GRCm39) |
missense |
probably benign |
0.32 |
R9169:Cfap52
|
UTSW |
11 |
67,844,860 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9394:Cfap52
|
UTSW |
11 |
67,815,921 (GRCm39) |
makesense |
probably null |
|
R9645:Cfap52
|
UTSW |
11 |
67,837,179 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9683:Cfap52
|
UTSW |
11 |
67,822,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2014-02-04 |