Incidental Mutation 'R9394:Cfap52'
| ID |
710757 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap52
|
| Ensembl Gene |
ENSMUSG00000020904 |
| Gene Name |
cilia and flagella associated protein 52 |
| Synonyms |
Wdr16, 4933417B11Rik, 1700019F09Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.794)
|
| Stock # |
R9394 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
67815632-67856477 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 67815921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Arginine
at position 621
(*621R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021287
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021287]
[ENSMUST00000021288]
[ENSMUST00000108677]
|
| AlphaFold |
Q5F201 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021287
AA Change: *621R
|
| SMART Domains |
Protein: ENSMUSP00000021287
Gene: ENSMUSG00000020904
AA Change: *621R
| 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: ENSMUST00000021288
|
| SMART Domains |
Protein: ENSMUSP00000021288
Gene: ENSMUSG00000020905
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
87 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
100 |
707 |
2.8e-61 |
PFAM |
|
Pfam:UCH_1
|
101 |
297 |
1.3e-6 |
PFAM |
|
Pfam:UCH_1
|
503 |
689 |
5.2e-13 |
PFAM |
|
low complexity region
|
717 |
731 |
N/A |
INTRINSIC |
|
low complexity region
|
958 |
972 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108677
|
| SMART Domains |
Protein: ENSMUSP00000104317
Gene: ENSMUSG00000020905
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
87 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
100 |
702 |
3.5e-54 |
PFAM |
|
Pfam:UCH_1
|
101 |
298 |
2.7e-7 |
PFAM |
|
Pfam:UCH_1
|
503 |
684 |
1.2e-9 |
PFAM |
|
low complexity region
|
712 |
726 |
N/A |
INTRINSIC |
|
low complexity region
|
953 |
967 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
G |
4: 86,135,225 (GRCm39) |
D78G |
|
Het |
| Adgrv1 |
A |
G |
13: 81,624,767 (GRCm39) |
V3734A |
possibly damaging |
Het |
| Alpk1 |
T |
A |
3: 127,466,187 (GRCm39) |
E1106D |
probably damaging |
Het |
| Apc2 |
A |
G |
10: 80,145,006 (GRCm39) |
Y639C |
probably damaging |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Arfgef2 |
G |
A |
2: 166,676,469 (GRCm39) |
V119I |
probably benign |
Het |
| Cacna2d1 |
T |
C |
5: 16,140,013 (GRCm39) |
M1T |
probably null |
Het |
| Dis3l |
T |
C |
9: 64,225,017 (GRCm39) |
I427V |
probably benign |
Het |
| Dscaml1 |
G |
A |
9: 45,661,354 (GRCm39) |
V1751I |
possibly damaging |
Het |
| Eif3c |
A |
T |
7: 126,156,550 (GRCm39) |
F432L |
probably benign |
Het |
| Iars1 |
A |
G |
13: 49,883,536 (GRCm39) |
N1110S |
probably benign |
Het |
| Ifitm10 |
A |
T |
7: 141,924,704 (GRCm39) |
V45D |
probably damaging |
Het |
| Igfbpl1 |
A |
T |
4: 45,826,792 (GRCm39) |
M1K |
probably null |
Het |
| Igkv3-1 |
T |
A |
6: 70,680,953 (GRCm39) |
Y51N |
probably benign |
Het |
| Kcnq2 |
A |
T |
2: 180,724,217 (GRCm39) |
I600K |
probably benign |
Het |
| Madd |
G |
A |
2: 91,000,199 (GRCm39) |
T569M |
probably benign |
Het |
| Mapk7 |
A |
T |
11: 61,381,858 (GRCm39) |
H351Q |
probably damaging |
Het |
| Met |
A |
C |
6: 17,513,395 (GRCm39) |
Y415S |
probably damaging |
Het |
| Mmd2 |
A |
T |
5: 142,555,239 (GRCm39) |
V151D |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,549,390 (GRCm39) |
D1267G |
probably damaging |
Het |
| Or10g1 |
A |
G |
14: 52,647,570 (GRCm39) |
V253A |
probably damaging |
Het |
| Or2l13 |
A |
C |
16: 19,306,421 (GRCm39) |
T278P |
possibly damaging |
Het |
| Or2m13 |
A |
G |
16: 19,226,019 (GRCm39) |
V249A |
probably benign |
Het |
| Or5w12 |
T |
C |
2: 87,502,094 (GRCm39) |
I206V |
probably benign |
Het |
| Osbpl8 |
C |
T |
10: 111,127,375 (GRCm39) |
R820* |
probably null |
Het |
| Oxsr1 |
C |
A |
9: 119,151,134 (GRCm39) |
E3* |
probably null |
Het |
| Plekhg3 |
A |
G |
12: 76,623,862 (GRCm39) |
D1035G |
probably damaging |
Het |
| Prune2 |
C |
T |
19: 16,981,053 (GRCm39) |
T70I |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,291,698 (GRCm39) |
L235S |
probably damaging |
Het |
| Rasal1 |
A |
C |
5: 120,816,746 (GRCm39) |
S761R |
probably benign |
Het |
| Rigi |
T |
C |
4: 40,213,831 (GRCm39) |
N609S |
probably damaging |
Het |
| Rims1 |
T |
C |
1: 22,511,856 (GRCm39) |
S566G |
probably damaging |
Het |
| Rnf123 |
T |
C |
9: 107,942,905 (GRCm39) |
H611R |
probably damaging |
Het |
| Rpl35rt |
T |
C |
1: 156,193,793 (GRCm39) |
V49A |
probably benign |
Het |
| Scn5a |
T |
A |
9: 119,324,682 (GRCm39) |
N1382I |
probably damaging |
Het |
| Sgcb |
T |
C |
5: 73,801,653 (GRCm39) |
I71V |
probably benign |
Het |
| Slc6a20a |
C |
A |
9: 123,507,805 (GRCm39) |
V23L |
probably damaging |
Het |
| Slc7a1 |
A |
G |
5: 148,270,712 (GRCm39) |
W585R |
probably damaging |
Het |
| Stk26 |
C |
T |
X: 49,930,618 (GRCm39) |
|
probably benign |
Het |
| Tom1l2 |
T |
C |
11: 60,132,715 (GRCm39) |
T403A |
probably benign |
Het |
| Trpm1 |
G |
T |
7: 63,918,480 (GRCm39) |
A1491S |
probably benign |
Het |
| Ttn |
A |
C |
2: 76,707,058 (GRCm39) |
D9044E |
unknown |
Het |
| Ube3a |
A |
T |
7: 58,921,960 (GRCm39) |
K111* |
probably null |
Het |
| Wee2 |
A |
G |
6: 40,433,878 (GRCm39) |
H264R |
probably damaging |
Het |
| Zdhhc23 |
T |
A |
16: 43,791,826 (GRCm39) |
I316F |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,254,600 (GRCm39) |
E1398G |
probably damaging |
Het |
| Zfp612 |
C |
A |
8: 110,810,993 (GRCm39) |
P57T |
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 |
|
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 |
|
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'- AAAGAGATCATGGTCAGAACCTTC -3'
(R):5'- TTCAGGTGGCCATGACCATC -3'
Sequencing Primer
(F):5'- GGTGTGAGAAATCAAACCC -3'
(R):5'- CATCTGGTCAAAGTCTGGGACTAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation