Incidental Mutation 'R5762:Cfap52'
| ID |
446071 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5762 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
67815632-67856477 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67844947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 41
(Y41H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116496
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021287]
[ENSMUST00000126766]
|
| AlphaFold |
Q5F201 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021287
AA Change: Y41H
PolyPhen 2
Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000021287
Gene: ENSMUSG00000020904
AA Change: Y41H
| 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 |
possibly damaging
Transcript: ENSMUST00000126766
AA Change: Y41H
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000116496
Gene: ENSMUSG00000020904
AA Change: Y41H
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 77,044,445 (GRCm39) |
D148E |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,531,665 (GRCm39) |
I4631V |
probably damaging |
Het |
| Adamts16 |
A |
T |
13: 70,886,617 (GRCm39) |
W1058R |
probably damaging |
Het |
| Adgrf5 |
A |
G |
17: 43,741,586 (GRCm39) |
I163V |
probably null |
Het |
| Ano1 |
T |
A |
7: 144,201,774 (GRCm39) |
Y338F |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,418,521 (GRCm39) |
D603G |
probably damaging |
Het |
| Bmp2k |
GGCCCGC |
GGC |
5: 97,235,050 (GRCm39) |
|
probably null |
Het |
| Brinp2 |
T |
C |
1: 158,074,156 (GRCm39) |
D655G |
probably benign |
Het |
| C3ar1 |
A |
G |
6: 122,827,321 (GRCm39) |
S299P |
probably benign |
Het |
| Calhm1 |
T |
A |
19: 47,132,058 (GRCm39) |
|
probably null |
Het |
| Ccdc187 |
G |
A |
2: 26,166,104 (GRCm39) |
P775L |
possibly damaging |
Het |
| Cd27 |
A |
G |
6: 125,213,561 (GRCm39) |
F48S |
probably damaging |
Het |
| Cntn5 |
A |
G |
9: 9,748,394 (GRCm39) |
S701P |
possibly damaging |
Het |
| Ctbp2 |
G |
T |
7: 132,597,088 (GRCm39) |
A665D |
probably damaging |
Het |
| Ctsd |
C |
A |
7: 141,937,266 (GRCm39) |
G81C |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dpysl4 |
C |
T |
7: 138,671,853 (GRCm39) |
A67V |
probably benign |
Het |
| Dst |
C |
T |
1: 34,218,438 (GRCm39) |
T1626I |
probably damaging |
Het |
| Etfdh |
A |
C |
3: 79,523,261 (GRCm39) |
D217E |
probably null |
Het |
| Far1 |
T |
A |
7: 113,167,396 (GRCm39) |
Y494N |
probably damaging |
Het |
| Fndc1 |
G |
A |
17: 7,990,366 (GRCm39) |
T1110M |
unknown |
Het |
| Frmd4a |
G |
T |
2: 4,488,876 (GRCm39) |
D78Y |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,808,260 (GRCm39) |
M1526I |
probably benign |
Het |
| Ggn |
C |
T |
7: 28,871,777 (GRCm39) |
P399S |
probably damaging |
Het |
| H2ac6 |
C |
T |
13: 23,867,888 (GRCm39) |
G5S |
probably damaging |
Het |
| Hap1 |
A |
G |
11: 100,246,600 (GRCm39) |
W102R |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,846,938 (GRCm39) |
S3629R |
possibly damaging |
Het |
| Hyal4 |
A |
C |
6: 24,765,861 (GRCm39) |
Y405S |
possibly damaging |
Het |
| Ifi204 |
G |
A |
1: 173,580,325 (GRCm39) |
T395I |
probably damaging |
Het |
| Igsf9 |
A |
G |
1: 172,326,005 (GRCm39) |
E1147G |
probably damaging |
Het |
| Inpp5a |
T |
A |
7: 139,118,097 (GRCm39) |
I225N |
possibly damaging |
Het |
| Kcnv1 |
T |
C |
15: 44,972,518 (GRCm39) |
K455R |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,515,455 (GRCm39) |
D2796G |
probably benign |
Het |
| Ngp |
A |
T |
9: 110,251,401 (GRCm39) |
D143V |
probably benign |
Het |
| Nlrp5 |
T |
C |
7: 23,118,264 (GRCm39) |
C663R |
possibly damaging |
Het |
| Nup205 |
G |
T |
6: 35,204,615 (GRCm39) |
R1469L |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,207,483 (GRCm39) |
F1512I |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,397,542 (GRCm39) |
S594P |
probably damaging |
Het |
| Nxpe2 |
A |
C |
9: 48,230,875 (GRCm39) |
V498G |
probably benign |
Het |
| P3h4 |
G |
A |
11: 100,302,677 (GRCm39) |
R320C |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,063,455 (GRCm39) |
L2273P |
probably damaging |
Het |
| Ppp1r14b |
C |
T |
19: 6,953,951 (GRCm39) |
L100F |
probably damaging |
Het |
| Prlhr |
C |
T |
19: 60,455,506 (GRCm39) |
W353* |
probably null |
Het |
| Ralgps2 |
C |
T |
1: 156,660,234 (GRCm39) |
|
probably null |
Het |
| Rrp12 |
C |
T |
19: 41,868,591 (GRCm39) |
G584D |
possibly damaging |
Het |
| Scamp3 |
T |
C |
3: 89,088,504 (GRCm39) |
F237L |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,464,507 (GRCm39) |
|
probably null |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Shroom1 |
A |
T |
11: 53,354,818 (GRCm39) |
D246V |
probably benign |
Het |
| Snapc4 |
T |
A |
2: 26,268,618 (GRCm39) |
E14D |
probably damaging |
Het |
| Spag5 |
A |
T |
11: 78,194,972 (GRCm39) |
Q93L |
probably benign |
Het |
| Tcstv5 |
T |
A |
13: 120,411,501 (GRCm39) |
Q35L |
probably benign |
Het |
| Tle1 |
C |
T |
4: 72,038,372 (GRCm39) |
|
probably null |
Het |
| Ttll10 |
G |
A |
4: 156,119,438 (GRCm39) |
P683S |
possibly damaging |
Het |
| Unc13c |
A |
C |
9: 73,719,649 (GRCm39) |
D1006E |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,732,955 (GRCm39) |
K3101N |
possibly damaging |
Het |
| Vdac1 |
A |
G |
11: 52,278,280 (GRCm39) |
Y247C |
possibly damaging |
Het |
| Vmn2r1 |
G |
A |
3: 63,997,474 (GRCm39) |
V377I |
probably benign |
Het |
| Vmn2r23 |
A |
G |
6: 123,710,352 (GRCm39) |
T552A |
probably damaging |
Het |
| Xrcc3 |
C |
T |
12: 111,771,044 (GRCm39) |
R295Q |
probably damaging |
Het |
| Zfp780b |
T |
C |
7: 27,664,243 (GRCm39) |
N104S |
probably benign |
Het |
| Zkscan17 |
A |
G |
11: 59,378,397 (GRCm39) |
V262A |
possibly 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 |
|
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'- GGAGGCACCTCTAAGTAAACCC -3'
(R):5'- TCCGTGGAATACAATTACCTGG -3'
Sequencing Primer
(F):5'- TCTAAGTAAACCCCCAGTCAATG -3'
(R):5'- CCGTGGAATACAATTACCTGGTACTC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation