Incidental Mutation 'IGL02034:Cfap52'
| ID |
184474 |
| 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 # |
IGL02034
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
67815632-67856477 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 67837118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116496
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021287]
[ENSMUST00000126766]
|
| AlphaFold |
Q5F201 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021287
|
| SMART Domains |
Protein: ENSMUSP00000021287
Gene: ENSMUSG00000020904
| 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 null
Transcript: ENSMUST00000126766
|
| SMART Domains |
Protein: ENSMUSP00000116496
Gene: ENSMUSG00000020904
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135670
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142929
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcor |
A |
G |
X: 11,905,498 (GRCm39) |
S1556P |
possibly damaging |
Het |
| Brd10 |
A |
G |
19: 29,694,259 (GRCm39) |
S1745P |
possibly damaging |
Het |
| Ccdc6 |
T |
A |
10: 70,004,978 (GRCm39) |
I241N |
probably benign |
Het |
| Cd81 |
T |
C |
7: 142,619,986 (GRCm39) |
I48T |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,897,347 (GRCm39) |
M264V |
probably damaging |
Het |
| Cmya5 |
G |
A |
13: 93,221,043 (GRCm39) |
|
probably benign |
Het |
| Csn2 |
A |
G |
5: 87,843,941 (GRCm39) |
|
probably benign |
Het |
| Cyfip1 |
G |
A |
7: 55,548,101 (GRCm39) |
R567Q |
probably damaging |
Het |
| Ehbp1 |
A |
G |
11: 22,235,486 (GRCm39) |
|
probably null |
Het |
| Ermp1 |
G |
A |
19: 29,623,359 (GRCm39) |
|
probably benign |
Het |
| Erv3 |
C |
T |
2: 131,697,934 (GRCm39) |
V142I |
possibly damaging |
Het |
| Fzd2 |
A |
G |
11: 102,495,730 (GRCm39) |
N58S |
probably damaging |
Het |
| Gcm2 |
G |
A |
13: 41,259,269 (GRCm39) |
R67C |
probably damaging |
Het |
| Gm17019 |
A |
G |
5: 15,080,266 (GRCm39) |
I182T |
possibly damaging |
Het |
| Gpr45 |
T |
C |
1: 43,072,478 (GRCm39) |
*374Q |
probably null |
Het |
| Haus8 |
T |
C |
8: 71,708,202 (GRCm39) |
N165S |
probably damaging |
Het |
| Hoxd4 |
T |
A |
2: 74,558,750 (GRCm39) |
L191Q |
probably damaging |
Het |
| I830077J02Rik |
A |
G |
3: 105,834,565 (GRCm39) |
|
probably benign |
Het |
| Lpl |
T |
C |
8: 69,333,424 (GRCm39) |
L7P |
possibly damaging |
Het |
| Lrp1b |
T |
A |
2: 41,158,382 (GRCm39) |
K1612* |
probably null |
Het |
| Myh14 |
G |
T |
7: 44,265,717 (GRCm39) |
A1546D |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 55,875,577 (GRCm39) |
S1698P |
probably damaging |
Het |
| Or10p22 |
A |
T |
10: 128,826,570 (GRCm39) |
Q263L |
probably benign |
Het |
| Or4c112 |
C |
T |
2: 88,854,015 (GRCm39) |
V111M |
probably benign |
Het |
| Or52e7 |
C |
A |
7: 104,684,597 (GRCm39) |
T64N |
probably benign |
Het |
| Or5p51 |
G |
A |
7: 107,444,385 (GRCm39) |
T185I |
probably benign |
Het |
| Otog |
A |
T |
7: 45,945,417 (GRCm39) |
K40* |
probably null |
Het |
| Rgma |
C |
A |
7: 73,067,181 (GRCm39) |
H145Q |
probably damaging |
Het |
| Rpgrip1l |
A |
T |
8: 91,977,776 (GRCm39) |
|
probably null |
Het |
| Ssxb2 |
T |
A |
X: 8,324,743 (GRCm39) |
|
probably benign |
Het |
| Tmem175 |
C |
T |
5: 108,790,002 (GRCm39) |
T118I |
probably damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,498,808 (GRCm39) |
V542A |
probably benign |
Het |
| Zfp977 |
G |
A |
7: 42,230,136 (GRCm39) |
P130S |
probably damaging |
Het |
|
| Other mutations in Cfap52 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01758:Cfap52
|
APN |
11 |
67,844,406 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
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 |
2014-05-07 |
Incidental Mutation