Incidental Mutation 'R7580:Cfap52'
ID |
586700 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap52
|
Ensembl Gene |
ENSMUSG00000020904 |
Gene Name |
cilia and flagella associated protein 52 |
Synonyms |
Wdr16, 4933417B11Rik, 1700019F09Rik |
MMRRC Submission |
045664-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.772)
|
Stock # |
R7580 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
67815632-67856477 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 67837146 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Isoleucine
at position 205
(K205I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021287
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021287]
[ENSMUST00000126766]
|
AlphaFold |
Q5F201 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021287
AA Change: K205I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021287 Gene: ENSMUSG00000020904 AA Change: K205I
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: K205I
PolyPhen 2
Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000116496 Gene: ENSMUSG00000020904 AA Change: K205I
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 |
|
Meta Mutation Damage Score |
0.2980 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (54/54) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930486L24Rik |
T |
A |
13: 60,993,040 (GRCm39) |
Y213F |
probably damaging |
Het |
Adamdec1 |
A |
G |
14: 68,802,980 (GRCm39) |
S462P |
probably benign |
Het |
Adamtsl1 |
T |
A |
4: 85,972,301 (GRCm39) |
C3S |
possibly damaging |
Het |
Bag1 |
C |
T |
4: 40,947,836 (GRCm39) |
E123K |
probably benign |
Het |
Brip1 |
A |
G |
11: 86,048,427 (GRCm39) |
L305P |
probably damaging |
Het |
Cage1 |
T |
A |
13: 38,206,700 (GRCm39) |
I382F |
possibly damaging |
Het |
Cmtr2 |
T |
A |
8: 110,948,309 (GRCm39) |
N206K |
probably damaging |
Het |
Defb34 |
G |
A |
8: 19,176,426 (GRCm39) |
C39Y |
possibly damaging |
Het |
Dennd3 |
T |
C |
15: 73,428,296 (GRCm39) |
S881P |
possibly damaging |
Het |
Dglucy |
C |
T |
12: 100,816,423 (GRCm39) |
A325V |
probably benign |
Het |
Dnah8 |
A |
G |
17: 30,994,077 (GRCm39) |
E3398G |
probably damaging |
Het |
Dsc2 |
A |
T |
18: 20,183,130 (GRCm39) |
I96K |
probably damaging |
Het |
Endov |
C |
T |
11: 119,390,692 (GRCm39) |
|
probably benign |
Het |
Fer1l6 |
A |
T |
15: 58,430,245 (GRCm39) |
Q224L |
probably benign |
Het |
Fmo2 |
T |
C |
1: 162,704,613 (GRCm39) |
N431S |
possibly damaging |
Het |
Gata3 |
A |
C |
2: 9,867,943 (GRCm39) |
V337G |
probably damaging |
Het |
Gtse1 |
G |
A |
15: 85,746,432 (GRCm39) |
V83M |
probably damaging |
Het |
Hgd |
C |
A |
16: 37,439,241 (GRCm39) |
P224H |
possibly damaging |
Het |
Kcnh6 |
T |
C |
11: 105,908,374 (GRCm39) |
V330A |
probably damaging |
Het |
Kiz |
C |
G |
2: 146,798,169 (GRCm39) |
I631M |
probably damaging |
Het |
Klhl18 |
T |
C |
9: 110,265,118 (GRCm39) |
D366G |
probably benign |
Het |
Lrmda |
C |
T |
14: 22,069,925 (GRCm39) |
|
probably benign |
Het |
Mc1r |
G |
T |
8: 124,134,906 (GRCm39) |
A220S |
probably damaging |
Het |
Megf6 |
T |
A |
4: 154,355,201 (GRCm39) |
C1505* |
probably null |
Het |
Mmp20 |
C |
T |
9: 7,654,144 (GRCm39) |
R355* |
probably null |
Het |
Mmp28 |
T |
A |
11: 83,335,658 (GRCm39) |
Q280L |
probably damaging |
Het |
Mppe1 |
C |
T |
18: 67,370,488 (GRCm39) |
A70T |
probably damaging |
Het |
Mtif3 |
T |
G |
5: 146,895,757 (GRCm39) |
D110A |
possibly damaging |
Het |
Mtss2 |
G |
A |
8: 111,464,268 (GRCm39) |
R361H |
possibly damaging |
Het |
Mvp |
T |
C |
7: 126,591,483 (GRCm39) |
D542G |
probably damaging |
Het |
Nlrp5 |
T |
C |
7: 23,133,174 (GRCm39) |
C940R |
probably damaging |
Het |
Nmur2 |
C |
T |
11: 55,917,808 (GRCm39) |
V394I |
probably benign |
Het |
Nwd2 |
A |
G |
5: 63,965,624 (GRCm39) |
H1736R |
probably benign |
Het |
Or2n1c |
T |
C |
17: 38,519,934 (GRCm39) |
I266T |
probably benign |
Het |
Pira13 |
A |
T |
7: 3,827,611 (GRCm39) |
F182Y |
unknown |
Het |
Purg |
A |
G |
8: 33,906,661 (GRCm39) |
Y317C |
possibly damaging |
Het |
Ralgapa1 |
T |
A |
12: 55,765,013 (GRCm39) |
M880L |
probably benign |
Het |
Rap1gap |
T |
C |
4: 137,447,293 (GRCm39) |
F413L |
possibly damaging |
Het |
Sart3 |
A |
T |
5: 113,892,440 (GRCm39) |
|
probably null |
Het |
Scaf4 |
G |
A |
16: 90,026,740 (GRCm39) |
Q1026* |
probably null |
Het |
Slc26a1 |
A |
G |
5: 108,819,735 (GRCm39) |
L504P |
probably damaging |
Het |
Slc35d1 |
C |
A |
4: 103,065,330 (GRCm39) |
V184L |
|
Het |
Slc5a11 |
C |
T |
7: 122,864,421 (GRCm39) |
A339V |
probably damaging |
Het |
Stab2 |
A |
T |
10: 86,705,028 (GRCm39) |
M1780K |
probably benign |
Het |
Tas1r2 |
G |
A |
4: 139,387,056 (GRCm39) |
D172N |
probably benign |
Het |
Tasor |
A |
G |
14: 27,188,243 (GRCm39) |
I896M |
probably benign |
Het |
Tasor2 |
G |
A |
13: 3,624,752 (GRCm39) |
P1733S |
probably damaging |
Het |
Thoc1 |
A |
T |
18: 9,986,343 (GRCm39) |
K358N |
probably damaging |
Het |
Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
Ttll8 |
A |
C |
15: 88,818,132 (GRCm39) |
L181R |
probably damaging |
Het |
Ubl4b |
G |
A |
3: 107,461,784 (GRCm39) |
Q159* |
probably null |
Het |
Xrn1 |
A |
G |
9: 95,893,732 (GRCm39) |
H967R |
not run |
Het |
Zeb2 |
T |
C |
2: 44,884,544 (GRCm39) |
D1049G |
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 |
|
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 |
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'- ATGGGACCTCTTAGCGCTTG -3'
(R):5'- CTGTCAGCTTCTCCTTCAAGAG -3'
Sequencing Primer
(F):5'- GCTGTGTGCTCCCTCTGAG -3'
(R):5'- TCCTTCAAGAGGGGGTGAG -3'
|
Posted On |
2019-10-24 |