Incidental Mutation 'R5970:Cfap52'
ID |
470811 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap52
|
Ensembl Gene |
ENSMUSG00000020904 |
Gene Name |
cilia and flagella associated protein 52 |
Synonyms |
Wdr16, 4933417B11Rik, 1700019F09Rik |
MMRRC Submission |
044153-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.772)
|
Stock # |
R5970 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
67815632-67856477 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 67821570 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 486
(I486T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021287
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021287]
|
AlphaFold |
Q5F201 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021287
AA Change: I486T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021287 Gene: ENSMUSG00000020904 AA Change: I486T
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 |
noncoding transcript
Transcript: ENSMUST00000123900
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135670
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142929
|
Meta Mutation Damage Score |
0.4705 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
Validation Efficiency |
98% (63/64) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1l1 |
G |
A |
6: 90,574,028 (GRCm39) |
|
probably benign |
Het |
Ambn |
T |
C |
5: 88,615,810 (GRCm39) |
V413A |
possibly damaging |
Het |
Amotl1 |
T |
A |
9: 14,507,824 (GRCm39) |
D41V |
probably damaging |
Het |
Arhgef26 |
T |
C |
3: 62,247,468 (GRCm39) |
V184A |
probably benign |
Het |
Birc6 |
G |
T |
17: 74,925,497 (GRCm39) |
G936V |
possibly damaging |
Het |
Ccser1 |
T |
A |
6: 61,288,226 (GRCm39) |
S130T |
possibly damaging |
Het |
Cecr2 |
A |
G |
6: 120,697,868 (GRCm39) |
I56V |
probably damaging |
Het |
Col4a3 |
A |
G |
1: 82,694,050 (GRCm39) |
I1557V |
possibly damaging |
Het |
Col6a5 |
T |
A |
9: 105,823,046 (GRCm39) |
I104F |
unknown |
Het |
Cry2 |
A |
G |
2: 92,243,312 (GRCm39) |
S510P |
probably benign |
Het |
Csmd2 |
G |
C |
4: 128,439,944 (GRCm39) |
A3133P |
probably benign |
Het |
Cyld |
G |
T |
8: 89,459,621 (GRCm39) |
A611S |
probably damaging |
Het |
Dennd4c |
G |
A |
4: 86,743,749 (GRCm39) |
G1197E |
probably damaging |
Het |
Dnah10 |
T |
C |
5: 124,885,793 (GRCm39) |
F2969L |
probably benign |
Het |
Dnai1 |
A |
G |
4: 41,625,281 (GRCm39) |
K415R |
probably benign |
Het |
Dnmbp |
T |
A |
19: 43,842,610 (GRCm39) |
T1253S |
probably benign |
Het |
Dsp |
T |
C |
13: 38,379,678 (GRCm39) |
L1542P |
possibly damaging |
Het |
Duox1 |
T |
A |
2: 122,170,682 (GRCm39) |
L1234Q |
probably damaging |
Het |
Efr3b |
T |
A |
12: 4,018,590 (GRCm39) |
R585S |
possibly damaging |
Het |
Gpt |
A |
G |
15: 76,583,552 (GRCm39) |
|
probably null |
Het |
Heatr6 |
G |
A |
11: 83,644,544 (GRCm39) |
|
probably benign |
Het |
Kcns2 |
A |
G |
15: 34,839,930 (GRCm39) |
D431G |
probably benign |
Het |
Kdm3b |
A |
G |
18: 34,962,342 (GRCm39) |
N1543D |
probably damaging |
Het |
Man2a1 |
A |
G |
17: 64,932,375 (GRCm39) |
K154R |
probably benign |
Het |
Mical3 |
G |
A |
6: 120,935,232 (GRCm39) |
Q893* |
probably null |
Het |
Morc3 |
C |
T |
16: 93,663,341 (GRCm39) |
H515Y |
possibly damaging |
Het |
Mprip |
A |
T |
11: 59,648,547 (GRCm39) |
R750S |
probably damaging |
Het |
Mroh1 |
G |
A |
15: 76,335,691 (GRCm39) |
V1436M |
probably benign |
Het |
Muc5ac |
C |
T |
7: 141,344,406 (GRCm39) |
R69* |
probably null |
Het |
Muc5b |
A |
T |
7: 141,410,449 (GRCm39) |
Y1274F |
unknown |
Het |
Mybpc1 |
A |
G |
10: 88,378,318 (GRCm39) |
L674P |
probably damaging |
Het |
Mypn |
A |
G |
10: 62,966,802 (GRCm39) |
V958A |
probably benign |
Het |
Nipbl |
T |
C |
15: 8,326,302 (GRCm39) |
T2436A |
probably benign |
Het |
Or7g20 |
A |
G |
9: 18,946,443 (GRCm39) |
D8G |
probably benign |
Het |
Pcdhb5 |
T |
A |
18: 37,454,826 (GRCm39) |
L402Q |
probably damaging |
Het |
Pigp |
T |
A |
16: 94,171,053 (GRCm39) |
|
probably null |
Het |
Rp1 |
A |
G |
1: 4,418,685 (GRCm39) |
L809P |
probably benign |
Het |
Scn3a |
T |
A |
2: 65,325,125 (GRCm39) |
|
probably benign |
Het |
Sdf2 |
A |
T |
11: 78,136,906 (GRCm39) |
M29L |
probably benign |
Het |
Serpina3b |
T |
G |
12: 104,100,350 (GRCm39) |
L311V |
possibly damaging |
Het |
Snx31 |
A |
T |
15: 36,523,634 (GRCm39) |
Y349* |
probably null |
Het |
Spidr |
A |
C |
16: 15,932,733 (GRCm39) |
C182W |
probably damaging |
Het |
St13 |
A |
T |
15: 81,261,999 (GRCm39) |
S146R |
probably damaging |
Het |
St8sia4 |
A |
G |
1: 95,581,307 (GRCm39) |
V145A |
probably damaging |
Het |
Stradb |
T |
C |
1: 59,019,175 (GRCm39) |
|
probably null |
Het |
Tcp11l2 |
T |
A |
10: 84,430,661 (GRCm39) |
|
probably benign |
Het |
Tfdp2 |
C |
T |
9: 96,199,627 (GRCm39) |
P74S |
unknown |
Het |
Tmprss15 |
C |
T |
16: 78,854,547 (GRCm39) |
R287H |
probably benign |
Het |
Trav10d |
T |
C |
14: 53,048,779 (GRCm39) |
Y57H |
probably damaging |
Het |
Vmn2r104 |
A |
G |
17: 20,249,733 (GRCm39) |
I846T |
probably benign |
Het |
Ywhah |
T |
A |
5: 33,184,292 (GRCm39) |
M165K |
possibly damaging |
Het |
Zfp324 |
C |
A |
7: 12,703,293 (GRCm39) |
P72T |
probably benign |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTCTTCTCAGAACCTTTTACTG -3'
(R):5'- CAAAGTCCTGGGTTTGTGTTGC -3'
Sequencing Primer
(F):5'- TATAACTCCAACTGCAGGGGATCTG -3'
(R):5'- CCTGGGTTTGTGTTGCTAGCC -3'
|
Posted On |
2017-03-31 |