Incidental Mutation 'R0939:Cfap53'
| ID |
81347 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap53
|
| Ensembl Gene |
ENSMUSG00000035394 |
| Gene Name |
cilia and flagella associated protein 53 |
| Synonyms |
4933415I03Rik, Ccdc11 |
| MMRRC Submission |
039078-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.487)
|
| Stock # |
R0939 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
74416171-74493055 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74438801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 326
(D326G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110545
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114895]
[ENSMUST00000176435]
|
| AlphaFold |
Q9D439 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000114895
AA Change: D326G
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000110545
Gene: ENSMUSG00000035394
AA Change: D326G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
131 |
145 |
N/A |
INTRINSIC |
|
Pfam:TPH
|
160 |
495 |
1.3e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122178
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176435
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis and in skin fibroblasts from human. Mutations in this gene are associated with visceral heterotaxy-6, which implicates this gene in determination of left-right asymmetric patterning. [provided by RefSeq, Aug 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
C |
T |
11: 119,902,969 (GRCm39) |
V419M |
probably damaging |
Het |
| Cdcp1 |
A |
G |
9: 123,012,755 (GRCm39) |
V264A |
probably damaging |
Het |
| Dach1 |
A |
G |
14: 98,153,360 (GRCm39) |
V436A |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 118,024,142 (GRCm39) |
G1870S |
probably damaging |
Het |
| Dst |
C |
A |
1: 34,283,464 (GRCm39) |
H5324N |
probably damaging |
Het |
| Eapp |
TTTCTTCTTCTTCTTCTT |
TTTCTTCTTCTTCTT |
12: 54,732,734 (GRCm39) |
|
probably benign |
Het |
| Esd |
C |
A |
14: 74,973,467 (GRCm39) |
H21N |
probably damaging |
Het |
| Gnmt |
A |
G |
17: 47,037,271 (GRCm39) |
L171P |
probably damaging |
Het |
| Igdcc4 |
T |
A |
9: 65,038,755 (GRCm39) |
|
probably null |
Het |
| Mug1 |
A |
T |
6: 121,861,308 (GRCm39) |
I1310F |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,156,311 (GRCm39) |
K834R |
probably benign |
Het |
| Or10a3b |
T |
A |
7: 108,444,440 (GRCm39) |
Y259F |
probably damaging |
Het |
| Or10h5 |
T |
C |
17: 33,434,635 (GRCm39) |
K231E |
possibly damaging |
Het |
| Or9g19 |
T |
A |
2: 85,600,997 (GRCm39) |
L284* |
probably null |
Het |
| Pcdh17 |
A |
G |
14: 84,685,195 (GRCm39) |
D554G |
probably damaging |
Het |
| Plcxd3 |
T |
A |
15: 4,546,344 (GRCm39) |
L116* |
probably null |
Het |
| Prss1 |
A |
C |
6: 41,440,522 (GRCm39) |
D199A |
probably damaging |
Het |
| Rbms3 |
C |
T |
9: 116,939,028 (GRCm39) |
|
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rreb1 |
A |
G |
13: 38,116,207 (GRCm39) |
M1189V |
probably benign |
Het |
| Slc25a39 |
T |
C |
11: 102,295,877 (GRCm39) |
E118G |
probably damaging |
Het |
| Slfn5 |
G |
T |
11: 82,852,164 (GRCm39) |
M763I |
probably benign |
Het |
| Speer4f2 |
A |
G |
5: 17,579,402 (GRCm39) |
E67G |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,704,636 (GRCm39) |
|
probably null |
Het |
| Spocd1 |
A |
T |
4: 129,842,663 (GRCm39) |
D26V |
possibly damaging |
Het |
| Ssh1 |
A |
G |
5: 114,108,497 (GRCm39) |
L50P |
probably damaging |
Het |
| Tle1 |
A |
G |
4: 72,036,771 (GRCm39) |
L728P |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,741,336 (GRCm39) |
|
probably null |
Het |
| Tubb1 |
G |
A |
2: 174,297,549 (GRCm39) |
E53K |
probably damaging |
Het |
| Vmn2r71 |
A |
T |
7: 85,272,889 (GRCm39) |
T568S |
possibly damaging |
Het |
|
| Other mutations in Cfap53 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00579:Cfap53
|
APN |
18 |
74,438,611 (GRCm39) |
nonsense |
probably null |
|
|
IGL00667:Cfap53
|
APN |
18 |
74,433,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00917:Cfap53
|
APN |
18 |
74,432,367 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0009:Cfap53
|
UTSW |
18 |
74,432,247 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0009:Cfap53
|
UTSW |
18 |
74,432,247 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0035:Cfap53
|
UTSW |
18 |
74,433,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0035:Cfap53
|
UTSW |
18 |
74,433,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0048:Cfap53
|
UTSW |
18 |
74,432,244 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0601:Cfap53
|
UTSW |
18 |
74,433,221 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1166:Cfap53
|
UTSW |
18 |
74,433,251 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1588:Cfap53
|
UTSW |
18 |
74,440,444 (GRCm39) |
missense |
probably benign |
|
|
R2105:Cfap53
|
UTSW |
18 |
74,416,294 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2186:Cfap53
|
UTSW |
18 |
74,462,576 (GRCm39) |
splice site |
probably null |
|
|
R3723:Cfap53
|
UTSW |
18 |
74,492,640 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3724:Cfap53
|
UTSW |
18 |
74,492,640 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3904:Cfap53
|
UTSW |
18 |
74,440,445 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5156:Cfap53
|
UTSW |
18 |
74,492,838 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5262:Cfap53
|
UTSW |
18 |
74,462,530 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5928:Cfap53
|
UTSW |
18 |
74,492,811 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6405:Cfap53
|
UTSW |
18 |
74,492,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6653:Cfap53
|
UTSW |
18 |
74,433,280 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6675:Cfap53
|
UTSW |
18 |
74,440,447 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7011:Cfap53
|
UTSW |
18 |
74,462,564 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7397:Cfap53
|
UTSW |
18 |
74,416,294 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8943:Cfap53
|
UTSW |
18 |
74,432,253 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9132:Cfap53
|
UTSW |
18 |
74,416,272 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9159:Cfap53
|
UTSW |
18 |
74,416,272 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9389:Cfap53
|
UTSW |
18 |
74,432,414 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9548:Cfap53
|
UTSW |
18 |
74,438,040 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9679:Cfap53
|
UTSW |
18 |
74,492,656 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9792:Cfap53
|
UTSW |
18 |
74,438,741 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9793:Cfap53
|
UTSW |
18 |
74,438,741 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9795:Cfap53
|
UTSW |
18 |
74,438,741 (GRCm39) |
missense |
probably benign |
0.44 |
|
Z1177:Cfap53
|
UTSW |
18 |
74,438,623 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGATCAAACGAGAGGACGAACAAGAA -3'
(R):5'- CGGAGTGTGAAAACTGCTACCCTACAA -3'
Sequencing Primer
(F):5'- GGACGAACAAGAAAAACTCCAG -3'
(R):5'- tcctccctccctctccc -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation