Incidental Mutation 'IGL02530:Cfap52'
| ID |
297296 |
| 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 # |
IGL02530
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
67815632-67856477 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 67845007 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 benign
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 benign
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 |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
T |
C |
7: 66,559,124 (GRCm39) |
F305L |
probably damaging |
Het |
| Ankrd12 |
T |
C |
17: 66,291,398 (GRCm39) |
H1345R |
probably benign |
Het |
| Bloc1s5 |
A |
T |
13: 38,787,859 (GRCm39) |
M175K |
probably damaging |
Het |
| C9 |
T |
A |
15: 6,526,613 (GRCm39) |
M549K |
probably benign |
Het |
| Cntnap2 |
A |
T |
6: 46,998,670 (GRCm39) |
K907N |
possibly damaging |
Het |
| Cox8c |
T |
A |
12: 102,865,752 (GRCm39) |
|
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp26b1 |
A |
T |
6: 84,551,294 (GRCm39) |
N307K |
possibly damaging |
Het |
| Cyp2s1 |
T |
C |
7: 25,515,849 (GRCm39) |
|
probably benign |
Het |
| Dpysl2 |
G |
A |
14: 67,061,847 (GRCm39) |
T253I |
probably damaging |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Egflam |
T |
A |
15: 7,252,293 (GRCm39) |
I835F |
probably damaging |
Het |
| Eif5a |
A |
T |
11: 69,809,989 (GRCm39) |
H51Q |
possibly damaging |
Het |
| Fancd2 |
T |
A |
6: 113,539,422 (GRCm39) |
I637N |
probably damaging |
Het |
| Gpr173 |
T |
A |
X: 151,130,092 (GRCm39) |
H127L |
probably damaging |
Het |
| Klc3 |
T |
C |
7: 19,130,969 (GRCm39) |
I203V |
probably benign |
Het |
| Lsg1 |
T |
C |
16: 30,390,060 (GRCm39) |
K352E |
probably benign |
Het |
| Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
| Med12l |
G |
T |
3: 58,984,510 (GRCm39) |
D483Y |
probably damaging |
Het |
| Mlh1 |
A |
G |
9: 111,058,943 (GRCm39) |
Y694H |
probably benign |
Het |
| Mmrn1 |
A |
G |
6: 60,935,160 (GRCm39) |
R219G |
possibly damaging |
Het |
| Nsd1 |
T |
C |
13: 55,450,646 (GRCm39) |
|
probably benign |
Het |
| Or2y1f |
A |
T |
11: 49,184,555 (GRCm39) |
M136L |
possibly damaging |
Het |
| Or8k33 |
C |
T |
2: 86,384,224 (GRCm39) |
M81I |
possibly damaging |
Het |
| Pax3 |
A |
T |
1: 78,098,424 (GRCm39) |
S322T |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
| Plekhb2 |
T |
C |
1: 34,916,022 (GRCm39) |
V187A |
possibly damaging |
Het |
| Pot1a |
A |
T |
6: 25,794,592 (GRCm39) |
F31I |
probably damaging |
Het |
| Rpap1 |
A |
T |
2: 119,613,720 (GRCm39) |
|
probably benign |
Het |
| Scmh1 |
T |
A |
4: 120,385,343 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,560,522 (GRCm39) |
T1251A |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,001,634 (GRCm39) |
V148A |
probably benign |
Het |
| Slit3 |
A |
G |
11: 35,598,969 (GRCm39) |
*1524W |
probably null |
Het |
| Son |
C |
A |
16: 91,455,359 (GRCm39) |
P1369T |
possibly damaging |
Het |
| Spp2 |
T |
A |
1: 88,338,868 (GRCm39) |
L25* |
probably null |
Het |
| Sptbn4 |
T |
C |
7: 27,090,976 (GRCm39) |
Q1405R |
probably damaging |
Het |
| Traf3ip2 |
G |
T |
10: 39,522,902 (GRCm39) |
A463S |
possibly damaging |
Het |
| Trappc11 |
T |
C |
8: 47,960,617 (GRCm39) |
E27G |
probably damaging |
Het |
| Vmn2r12 |
C |
T |
5: 109,233,858 (GRCm39) |
V785I |
probably damaging |
Het |
| Zc3h8 |
A |
G |
2: 128,785,846 (GRCm39) |
|
probably benign |
Het |
| Zfp57 |
T |
A |
17: 37,317,056 (GRCm39) |
S45T |
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 |
|
IGL02034:Cfap52
|
APN |
11 |
67,837,118 (GRCm39) |
splice site |
probably null |
|
|
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 |
2015-04-16 |
Incidental Mutation