Incidental Mutation 'R7966:Cfap52'
| ID |
656421 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap52
|
| Ensembl Gene |
ENSMUSG00000020904 |
| Gene Name |
cilia and flagella associated protein 52 |
| Synonyms |
Wdr16, 4933417B11Rik, 1700019F09Rik |
| MMRRC Submission |
046009-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.794)
|
| Stock # |
R7966 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
67815632-67856477 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 67844571 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (52/53) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
T |
12: 71,219,903 (GRCm39) |
I817L |
probably benign |
Het |
| Adcy8 |
A |
T |
15: 64,573,939 (GRCm39) |
W1055R |
probably damaging |
Het |
| Anks4b |
A |
G |
7: 119,781,923 (GRCm39) |
E318G |
probably benign |
Het |
| Arid3a |
A |
G |
10: 79,767,889 (GRCm39) |
T229A |
probably benign |
Het |
| Cckar |
T |
C |
5: 53,858,580 (GRCm39) |
K247E |
possibly damaging |
Het |
| Ckap4 |
A |
G |
10: 84,363,449 (GRCm39) |
V538A |
probably damaging |
Het |
| Cped1 |
T |
C |
6: 22,059,953 (GRCm39) |
|
probably null |
Het |
| Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
| Cyp4v3 |
G |
T |
8: 45,785,954 (GRCm39) |
A21E |
probably benign |
Het |
| Cytip |
T |
C |
2: 58,037,944 (GRCm39) |
E140G |
probably damaging |
Het |
| D130043K22Rik |
A |
C |
13: 25,077,406 (GRCm39) |
Q1013P |
probably damaging |
Het |
| Dpp6 |
A |
G |
5: 27,928,370 (GRCm39) |
M763V |
probably benign |
Het |
| Eps15 |
T |
A |
4: 109,178,340 (GRCm39) |
Y193N |
probably damaging |
Het |
| Ghrhr |
T |
C |
6: 55,356,083 (GRCm39) |
W59R |
probably damaging |
Het |
| Hdac4 |
A |
G |
1: 91,861,402 (GRCm39) |
V1056A |
possibly damaging |
Het |
| Ipcef1 |
T |
C |
10: 6,850,668 (GRCm39) |
T312A |
probably damaging |
Het |
| Itpr3 |
T |
C |
17: 27,331,002 (GRCm39) |
|
probably null |
Het |
| Kif6 |
A |
G |
17: 49,993,453 (GRCm39) |
I182V |
probably damaging |
Het |
| Lcn3 |
A |
G |
2: 25,656,389 (GRCm39) |
K90E |
probably damaging |
Het |
| Lig3 |
T |
C |
11: 82,681,342 (GRCm39) |
S446P |
probably damaging |
Het |
| Ncln |
G |
A |
10: 81,326,103 (GRCm39) |
Q283* |
probably null |
Het |
| Nlrp4c |
A |
G |
7: 6,069,322 (GRCm39) |
T408A |
probably damaging |
Het |
| Oas1h |
T |
C |
5: 121,009,962 (GRCm39) |
F346L |
probably damaging |
Het |
| Olig2 |
AGCCGCCGCCGCCGCCGCAGCCGCCGCCGCCGC |
AGCCGCCGCCGCCGCAGCCGCCGCCGCCGC |
16: 91,023,962 (GRCm39) |
|
probably benign |
Het |
| Or2ad1 |
A |
T |
13: 21,326,356 (GRCm39) |
Y290* |
probably null |
Het |
| Or52b4 |
T |
C |
7: 102,184,623 (GRCm39) |
I223T |
probably damaging |
Het |
| Or52s1b |
A |
T |
7: 102,822,062 (GRCm39) |
F261I |
probably damaging |
Het |
| Or8b55 |
A |
G |
9: 38,727,536 (GRCm39) |
I246V |
probably benign |
Het |
| Pdcd1 |
A |
T |
1: 93,969,186 (GRCm39) |
V44E |
probably damaging |
Het |
| Prdm13 |
A |
T |
4: 21,679,932 (GRCm39) |
I186N |
unknown |
Het |
| Prpf4b |
A |
G |
13: 35,085,428 (GRCm39) |
D958G |
probably damaging |
Het |
| Prss59 |
A |
T |
6: 40,903,022 (GRCm39) |
Y117N |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,156,223 (GRCm39) |
N2792S |
probably damaging |
Het |
| Robo1 |
T |
A |
16: 72,780,760 (GRCm39) |
I830N |
possibly damaging |
Het |
| Scaper |
A |
G |
9: 55,669,611 (GRCm39) |
V355A |
probably damaging |
Het |
| Scn3b |
C |
T |
9: 40,193,846 (GRCm39) |
A191V |
probably benign |
Het |
| Slc13a3 |
G |
C |
2: 165,272,155 (GRCm39) |
S296C |
probably benign |
Het |
| Slc6a16 |
T |
A |
7: 44,917,477 (GRCm39) |
I445N |
possibly damaging |
Het |
| Snrnp35 |
A |
G |
5: 124,628,565 (GRCm39) |
Y126C |
possibly damaging |
Het |
| Spock2 |
A |
G |
10: 59,957,554 (GRCm39) |
H98R |
possibly damaging |
Het |
| Sptssb |
A |
T |
3: 69,728,286 (GRCm39) |
Y50* |
probably null |
Het |
| Syne1 |
A |
G |
10: 5,066,965 (GRCm39) |
|
probably null |
Het |
| Tcf21 |
T |
C |
10: 22,695,706 (GRCm39) |
T33A |
probably benign |
Het |
| Tecta |
A |
G |
9: 42,306,258 (GRCm39) |
F57L |
probably damaging |
Het |
| Tgs1 |
C |
A |
4: 3,586,215 (GRCm39) |
P364H |
probably benign |
Het |
| Tmem242 |
A |
G |
17: 5,461,711 (GRCm39) |
I119T |
probably benign |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Vmn2r3 |
T |
A |
3: 64,186,235 (GRCm39) |
N150I |
probably damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,060,762 (GRCm39) |
I274T |
possibly damaging |
Het |
| Vwf |
T |
A |
6: 125,616,304 (GRCm39) |
L1206* |
probably null |
Het |
| Zfp157 |
T |
A |
5: 138,445,833 (GRCm39) |
W63R |
probably benign |
Het |
| Zfp455 |
T |
C |
13: 67,347,302 (GRCm39) |
Y10H |
probably benign |
Het |
| Zfp654 |
T |
C |
16: 64,605,239 (GRCm39) |
T447A |
probably damaging |
Het |
| Zhx2 |
T |
C |
15: 57,685,063 (GRCm39) |
I144T |
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 |
|
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 |
|
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'- GCCAAGGCTTCGATTTTGCC -3'
(R):5'- TACTTAGAGGTGCCTCCCTG -3'
Sequencing Primer
(F):5'- TGCCCTTGTGAAGTGACAGC -3'
(R):5'- GGAAGAGTTCCCTGACTTCG -3'
|
| Posted On |
2020-11-11 |
Incidental Mutation