Incidental Mutation 'IGL01135:Cfap206'
| ID |
278208 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cfap206
|
| Ensembl Gene |
ENSMUSG00000028294 |
| Gene Name |
cilia and flagella associated protein 206 |
| Synonyms |
1700003M02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
IGL01135
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
34688559-34730206 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 34721562 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 162
(S162N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029971]
[ENSMUST00000108136]
[ENSMUST00000137514]
[ENSMUST00000162495]
|
| AlphaFold |
Q6PE87 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029971
AA Change: S162N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029971
Gene: ENSMUSG00000028294
AA Change: S162N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3508
|
214 |
491 |
6.1e-108 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108136
AA Change: S162N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103771
Gene: ENSMUSG00000028294
AA Change: S162N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3508
|
213 |
493 |
3.8e-127 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135563
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137514
AA Change: S162N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160209
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162495
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,950,275 (GRCm38) |
V124I |
probably damaging |
Het |
| 5730507C01Rik |
G |
A |
12: 18,533,374 (GRCm38) |
R145H |
possibly damaging |
Het |
| Acox3 |
T |
A |
5: 35,588,752 (GRCm38) |
V93E |
probably benign |
Het |
| Ankar |
T |
C |
1: 72,665,219 (GRCm38) |
N848S |
probably benign |
Het |
| Blzf1 |
A |
G |
1: 164,303,930 (GRCm38) |
|
probably benign |
Het |
| Cc2d1a |
G |
T |
8: 84,143,404 (GRCm38) |
H161N |
probably benign |
Het |
| Ceacam23 |
A |
T |
7: 17,902,471 (GRCm38) |
|
noncoding transcript |
Het |
| Ckmt1 |
A |
C |
2: 121,361,150 (GRCm38) |
D267A |
probably damaging |
Het |
| Dtl |
G |
T |
1: 191,548,330 (GRCm38) |
T364K |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,024,840 (GRCm38) |
F2308I |
probably damaging |
Het |
| Fbxo41 |
A |
T |
6: 85,477,908 (GRCm38) |
S673T |
probably benign |
Het |
| Flnb |
G |
A |
14: 7,909,736 (GRCm38) |
V1397I |
probably benign |
Het |
| Gdi2 |
A |
G |
13: 3,548,855 (GRCm38) |
|
probably benign |
Het |
| Grik3 |
C |
T |
4: 125,632,415 (GRCm38) |
T147I |
probably benign |
Het |
| Htr1a |
T |
C |
13: 105,445,284 (GRCm38) |
V344A |
possibly damaging |
Het |
| Isg20l2 |
A |
T |
3: 87,931,761 (GRCm38) |
D93V |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,354,555 (GRCm38) |
|
probably null |
Het |
| Mfsd4b3-ps |
A |
G |
10: 39,948,072 (GRCm38) |
M64T |
probably benign |
Het |
| Nox3 |
T |
A |
17: 3,696,252 (GRCm38) |
|
probably benign |
Het |
| Or2ag12 |
C |
T |
7: 106,678,193 (GRCm38) |
A98T |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,251,635 (GRCm38) |
N1204K |
probably damaging |
Het |
| Pou4f3 |
C |
T |
18: 42,395,966 (GRCm38) |
Q325* |
probably null |
Het |
| Rap1a |
T |
A |
3: 105,732,035 (GRCm38) |
T103S |
probably benign |
Het |
| Rfc4 |
G |
A |
16: 23,115,776 (GRCm38) |
R165C |
probably damaging |
Het |
| Smtnl1 |
A |
G |
2: 84,818,887 (GRCm38) |
S8P |
probably benign |
Het |
| Syt17 |
C |
T |
7: 118,382,047 (GRCm38) |
G351S |
possibly damaging |
Het |
| Tcf20 |
T |
A |
15: 82,853,900 (GRCm38) |
M1117L |
probably benign |
Het |
| Tent5a |
A |
G |
9: 85,326,599 (GRCm38) |
V57A |
probably damaging |
Het |
| Tgfbr3 |
A |
T |
5: 107,215,028 (GRCm38) |
H39Q |
probably damaging |
Het |
| Trdmt1 |
T |
C |
2: 13,521,260 (GRCm38) |
|
probably null |
Het |
| Twf2 |
A |
G |
9: 106,212,828 (GRCm38) |
I127V |
probably benign |
Het |
| Unc13c |
A |
G |
9: 73,484,893 (GRCm38) |
V2059A |
probably damaging |
Het |
|
| Other mutations in Cfap206 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00797:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00798:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00826:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00919:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01062:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01064:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01069:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01070:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01086:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01087:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01090:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01098:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01111:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01133:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01147:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01152:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01153:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01154:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01155:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01289:Cfap206
|
APN |
4 |
34,716,469 (GRCm38) |
missense |
probably null |
0.98 |
|
IGL01845:Cfap206
|
APN |
4 |
34,719,610 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
IGL02115:Cfap206
|
APN |
4 |
34,722,623 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
IGL03241:Cfap206
|
APN |
4 |
34,711,553 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03405:Cfap206
|
APN |
4 |
34,716,445 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
ANU05:Cfap206
|
UTSW |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB001:Cfap206
|
UTSW |
4 |
34,728,833 (GRCm38) |
missense |
probably benign |
0.10 |
|
BB011:Cfap206
|
UTSW |
4 |
34,728,833 (GRCm38) |
missense |
probably benign |
0.10 |
|
R0012:Cfap206
|
UTSW |
4 |
34,714,519 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R0689:Cfap206
|
UTSW |
4 |
34,722,668 (GRCm38) |
missense |
probably benign |
0.23 |
|
R0730:Cfap206
|
UTSW |
4 |
34,711,391 (GRCm38) |
missense |
probably benign |
|
|
R1567:Cfap206
|
UTSW |
4 |
34,716,490 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1694:Cfap206
|
UTSW |
4 |
34,719,058 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1706:Cfap206
|
UTSW |
4 |
34,688,875 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1837:Cfap206
|
UTSW |
4 |
34,728,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1909:Cfap206
|
UTSW |
4 |
34,722,714 (GRCm38) |
missense |
probably benign |
|
|
R2098:Cfap206
|
UTSW |
4 |
34,719,053 (GRCm38) |
nonsense |
probably null |
|
|
R2568:Cfap206
|
UTSW |
4 |
34,711,566 (GRCm38) |
nonsense |
probably null |
|
|
R3125:Cfap206
|
UTSW |
4 |
34,716,310 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R3784:Cfap206
|
UTSW |
4 |
34,716,445 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5249:Cfap206
|
UTSW |
4 |
34,714,502 (GRCm38) |
missense |
probably benign |
|
|
R5483:Cfap206
|
UTSW |
4 |
34,711,404 (GRCm38) |
missense |
probably benign |
0.39 |
|
R5569:Cfap206
|
UTSW |
4 |
34,724,892 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6247:Cfap206
|
UTSW |
4 |
34,692,530 (GRCm38) |
missense |
probably benign |
|
|
R6555:Cfap206
|
UTSW |
4 |
34,719,049 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6791:Cfap206
|
UTSW |
4 |
34,711,414 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R6865:Cfap206
|
UTSW |
4 |
34,714,448 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R7164:Cfap206
|
UTSW |
4 |
34,719,656 (GRCm38) |
missense |
probably benign |
|
|
R7814:Cfap206
|
UTSW |
4 |
34,716,347 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7924:Cfap206
|
UTSW |
4 |
34,728,833 (GRCm38) |
missense |
probably benign |
0.10 |
|
R8092:Cfap206
|
UTSW |
4 |
34,728,897 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R8240:Cfap206
|
UTSW |
4 |
34,728,902 (GRCm38) |
start codon destroyed |
probably null |
1.00 |
|
R8323:Cfap206
|
UTSW |
4 |
34,719,647 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8969:Cfap206
|
UTSW |
4 |
34,692,522 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9144:Cfap206
|
UTSW |
4 |
34,722,667 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R9336:Cfap206
|
UTSW |
4 |
34,716,494 (GRCm38) |
missense |
probably benign |
|
|
Z1176:Cfap206
|
UTSW |
4 |
34,719,661 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
| Posted On |
2015-04-16 |
Incidental Mutation