Incidental Mutation 'R5624:Cfap52'
| ID |
441746 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap52
|
| Ensembl Gene |
ENSMUSG00000020904 |
| Gene Name |
cilia and flagella associated protein 52 |
| Synonyms |
Wdr16, 4933417B11Rik, 1700019F09Rik |
| MMRRC Submission |
043163-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.794)
|
| Stock # |
R5624 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
67815632-67856477 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 67818184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 509
(C509S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021287
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021287]
|
| AlphaFold |
Q5F201 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021287
AA Change: C509S
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000021287
Gene: ENSMUSG00000020904
AA Change: C509S
| 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: ENSMUST00000068548
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123900
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135670
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142929
|
| Meta Mutation Damage Score |
0.2972 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (47/48) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad2 |
T |
A |
8: 120,341,844 (GRCm39) |
|
probably null |
Het |
| Aoah |
A |
T |
13: 21,179,649 (GRCm39) |
N372I |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,892,916 (GRCm39) |
D1598E |
probably damaging |
Het |
| Bcas2 |
T |
C |
3: 103,080,577 (GRCm39) |
C72R |
probably benign |
Het |
| Car9 |
T |
A |
4: 43,509,146 (GRCm39) |
F238Y |
probably benign |
Het |
| Ccnd1 |
T |
C |
7: 144,491,749 (GRCm39) |
S97G |
probably benign |
Het |
| Clcn4 |
C |
A |
7: 7,291,943 (GRCm39) |
V623L |
probably benign |
Het |
| Dnajc11 |
T |
C |
4: 152,063,967 (GRCm39) |
V483A |
probably benign |
Het |
| E2f8 |
G |
T |
7: 48,527,709 (GRCm39) |
D144E |
probably damaging |
Het |
| Epb41l1 |
G |
A |
2: 156,375,691 (GRCm39) |
|
probably benign |
Het |
| Fam186a |
A |
C |
15: 99,839,628 (GRCm39) |
H2205Q |
possibly damaging |
Het |
| Fhit |
A |
G |
14: 10,421,534 (GRCm38) |
S85P |
probably damaging |
Het |
| Fzd8 |
G |
A |
18: 9,213,268 (GRCm39) |
G117S |
unknown |
Het |
| Gsdmc4 |
A |
G |
15: 63,764,503 (GRCm39) |
M379T |
possibly damaging |
Het |
| Hemk1 |
T |
C |
9: 107,208,727 (GRCm39) |
R157G |
probably benign |
Het |
| Il10 |
A |
G |
1: 130,951,940 (GRCm39) |
M158V |
probably benign |
Het |
| Jmjd1c |
G |
A |
10: 67,069,193 (GRCm39) |
M1656I |
probably damaging |
Het |
| Kit |
A |
T |
5: 75,770,054 (GRCm39) |
K155N |
probably benign |
Het |
| Lmtk3 |
C |
A |
7: 45,436,286 (GRCm39) |
A114E |
probably damaging |
Het |
| Lztr1 |
A |
G |
16: 17,329,993 (GRCm39) |
|
probably benign |
Het |
| Mras |
A |
G |
9: 99,293,538 (GRCm39) |
F34S |
probably damaging |
Het |
| Myo1c |
A |
G |
11: 75,553,461 (GRCm39) |
T516A |
probably damaging |
Het |
| Nme8 |
A |
C |
13: 19,862,038 (GRCm39) |
V197G |
possibly damaging |
Het |
| Or13p5 |
T |
A |
4: 118,592,568 (GRCm39) |
Y281N |
probably damaging |
Het |
| Or8k39 |
T |
C |
2: 86,563,149 (GRCm39) |
D269G |
probably benign |
Het |
| Pcdhb9 |
A |
T |
18: 37,534,459 (GRCm39) |
Y151F |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,488,262 (GRCm39) |
|
probably null |
Het |
| Plekhg4 |
T |
C |
8: 106,107,382 (GRCm39) |
F892S |
probably damaging |
Het |
| Prmt3 |
T |
A |
7: 49,430,082 (GRCm39) |
F62I |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,659,523 (GRCm39) |
Y1999C |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,208,809 (GRCm39) |
Q204L |
possibly damaging |
Het |
| Slc6a16 |
T |
G |
7: 44,910,532 (GRCm39) |
H352Q |
probably benign |
Het |
| Snx9 |
T |
A |
17: 5,942,084 (GRCm39) |
C70* |
probably null |
Het |
| Srprb |
A |
G |
9: 103,074,800 (GRCm39) |
I114T |
probably damaging |
Het |
| Tas2r119 |
A |
T |
15: 32,178,114 (GRCm39) |
I227F |
probably damaging |
Het |
| Tasor2 |
A |
G |
13: 3,634,996 (GRCm39) |
S604P |
possibly damaging |
Het |
| Tg |
A |
T |
15: 66,709,906 (GRCm39) |
Y163F |
probably benign |
Het |
| Tm2d2 |
A |
G |
8: 25,512,784 (GRCm39) |
T211A |
probably damaging |
Het |
| Tmem132b |
A |
G |
5: 125,699,710 (GRCm39) |
S83G |
probably benign |
Het |
| Trav9-4 |
T |
C |
14: 53,913,886 (GRCm39) |
S47P |
probably benign |
Het |
| Vmn2r8 |
T |
A |
5: 108,950,325 (GRCm39) |
H174L |
probably damaging |
Het |
| Xrcc1 |
A |
G |
7: 24,259,270 (GRCm39) |
D85G |
possibly damaging |
Het |
| Zfp106 |
C |
G |
2: 120,362,438 (GRCm39) |
A34P |
probably damaging |
Het |
| Zfp608 |
A |
T |
18: 55,031,344 (GRCm39) |
N865K |
probably damaging |
Het |
| Zscan5b |
A |
G |
7: 6,233,518 (GRCm39) |
D114G |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGACTGCGAACACTATGTG -3'
(R):5'- CCAAACCCAAGTTCTATTGTGTG -3'
Sequencing Primer
(F):5'- CTGCGAACACTATGTGAATAGCTG -3'
(R):5'- TTCCAGGCGACTTAGAAG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation