Incidental Mutation 'IGL02115:Cfap206'
ID |
280354 |
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: 0.235)
|
Stock # |
IGL02115
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
34688559-34730206 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 34722623 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 153
(V153I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103771
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029971]
[ENSMUST00000108136]
[ENSMUST00000137514]
[ENSMUST00000162495]
|
AlphaFold |
Q6PE87 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029971
AA Change: V153I
PolyPhen 2
Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000029971 Gene: ENSMUSG00000028294 AA Change: V153I
Domain | Start | End | E-Value | Type |
Pfam:DUF3508
|
214 |
491 |
6.1e-108 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108136
AA Change: V153I
PolyPhen 2
Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000103771 Gene: ENSMUSG00000028294 AA Change: V153I
Domain | Start | End | E-Value | Type |
Pfam:DUF3508
|
213 |
493 |
3.8e-127 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135563
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137514
AA Change: V153I
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933440M02Rik |
A |
T |
7: 124,930,781 (GRCm39) |
|
noncoding transcript |
Het |
Abca7 |
A |
T |
10: 79,833,913 (GRCm39) |
N76Y |
probably damaging |
Het |
Apob |
A |
G |
12: 8,042,923 (GRCm39) |
K755R |
probably benign |
Het |
BC034090 |
A |
T |
1: 155,108,397 (GRCm39) |
|
probably benign |
Het |
Brinp1 |
T |
C |
4: 68,680,635 (GRCm39) |
T632A |
probably benign |
Het |
Cdcp1 |
C |
A |
9: 123,014,462 (GRCm39) |
C104F |
probably damaging |
Het |
Chd1l |
A |
T |
3: 97,497,220 (GRCm39) |
|
probably null |
Het |
Ckb |
A |
G |
12: 111,636,415 (GRCm39) |
F271L |
possibly damaging |
Het |
Col6a3 |
T |
A |
1: 90,735,373 (GRCm39) |
I759L |
probably damaging |
Het |
Ddr2 |
A |
T |
1: 169,822,278 (GRCm39) |
M390K |
probably benign |
Het |
Dhx8 |
C |
T |
11: 101,643,214 (GRCm39) |
P762L |
probably damaging |
Het |
Dnah3 |
A |
T |
7: 119,628,277 (GRCm39) |
V1449E |
probably damaging |
Het |
Dzip3 |
T |
C |
16: 48,768,848 (GRCm39) |
I629M |
probably benign |
Het |
Ep300 |
T |
C |
15: 81,533,019 (GRCm39) |
I1692T |
unknown |
Het |
Ercc6 |
T |
A |
14: 32,298,950 (GRCm39) |
L1446Q |
probably damaging |
Het |
Gm10092 |
T |
C |
16: 35,957,993 (GRCm39) |
|
noncoding transcript |
Het |
Gm6900 |
A |
T |
7: 10,390,503 (GRCm39) |
|
noncoding transcript |
Het |
Gpr149 |
T |
C |
3: 62,502,336 (GRCm39) |
T507A |
probably benign |
Het |
Hmcn1 |
T |
A |
1: 150,506,479 (GRCm39) |
D3776V |
probably damaging |
Het |
Irgm2 |
A |
G |
11: 58,110,948 (GRCm39) |
E225G |
probably benign |
Het |
Kif14 |
T |
C |
1: 136,424,305 (GRCm39) |
|
probably benign |
Het |
Klhl22 |
T |
C |
16: 17,594,459 (GRCm39) |
V196A |
probably damaging |
Het |
Lig4 |
T |
C |
8: 10,023,247 (GRCm39) |
S178G |
possibly damaging |
Het |
Lzts2 |
A |
G |
19: 45,014,809 (GRCm39) |
|
probably benign |
Het |
Mcoln3 |
C |
T |
3: 145,843,056 (GRCm39) |
S380L |
probably damaging |
Het |
Med12l |
A |
T |
3: 58,975,740 (GRCm39) |
T223S |
probably benign |
Het |
Mrpl54 |
A |
G |
10: 81,101,483 (GRCm39) |
|
probably null |
Het |
Myo1c |
A |
T |
11: 75,552,417 (GRCm39) |
I397F |
probably damaging |
Het |
Nbas |
A |
T |
12: 13,367,693 (GRCm39) |
|
probably benign |
Het |
Ncoa2 |
G |
A |
1: 13,223,041 (GRCm39) |
H1195Y |
probably damaging |
Het |
Nol3 |
A |
G |
8: 106,006,263 (GRCm39) |
M171V |
probably benign |
Het |
Or2l5 |
A |
T |
16: 19,333,853 (GRCm39) |
C178S |
probably damaging |
Het |
Or52s1 |
A |
G |
7: 102,861,681 (GRCm39) |
T194A |
probably damaging |
Het |
Pdpr |
C |
T |
8: 111,830,630 (GRCm39) |
L107F |
probably damaging |
Het |
Ppfibp2 |
G |
A |
7: 107,338,525 (GRCm39) |
|
probably benign |
Het |
Rusc2 |
T |
C |
4: 43,426,136 (GRCm39) |
|
probably benign |
Het |
Sdk2 |
G |
T |
11: 113,725,639 (GRCm39) |
|
probably benign |
Het |
Sema7a |
T |
C |
9: 57,868,183 (GRCm39) |
C539R |
probably damaging |
Het |
Senp6 |
T |
C |
9: 80,029,208 (GRCm39) |
C524R |
probably damaging |
Het |
Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
Slc15a1 |
A |
T |
14: 121,718,073 (GRCm39) |
Y269N |
possibly damaging |
Het |
Synj2 |
T |
A |
17: 6,067,865 (GRCm39) |
Y113N |
probably damaging |
Het |
Tm6sf1 |
A |
T |
7: 81,525,551 (GRCm39) |
Y172F |
probably damaging |
Het |
Trpv4 |
T |
C |
5: 114,763,090 (GRCm39) |
D773G |
probably damaging |
Het |
Ttc39a |
A |
G |
4: 109,283,491 (GRCm39) |
|
probably benign |
Het |
Tut1 |
C |
T |
19: 8,942,676 (GRCm39) |
R588W |
probably damaging |
Het |
Unc79 |
A |
T |
12: 102,964,933 (GRCm39) |
Y74F |
probably damaging |
Het |
Usp53 |
A |
T |
3: 122,741,039 (GRCm39) |
I737K |
probably benign |
Het |
Vmn2r67 |
A |
T |
7: 84,800,787 (GRCm39) |
M383K |
probably damaging |
Het |
Zc3h4 |
A |
G |
7: 16,159,708 (GRCm39) |
D426G |
unknown |
Het |
Zfp622 |
A |
G |
15: 25,987,286 (GRCm39) |
N308S |
probably damaging |
Het |
|
Other mutations in Cfap206 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00797:Cfap206
|
APN |
4 |
34,721,562 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00798:Cfap206
|
APN |
4 |
34,721,562 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00826:Cfap206
|
APN |
4 |
34,721,562 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00919:Cfap206
|
APN |
4 |
34,721,562 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01062:Cfap206
|
APN |
4 |
34,721,562 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01064:Cfap206
|
APN |
4 |
34,721,562 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01069:Cfap206
|
APN |
4 |
34,721,562 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01070:Cfap206
|
APN |
4 |
34,721,562 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01086:Cfap206
|
APN |
4 |
34,721,562 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01087:Cfap206
|
APN |
4 |
34,721,562 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01090:Cfap206
|
APN |
4 |
34,721,562 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01098:Cfap206
|
APN |
4 |
34,721,562 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01111:Cfap206
|
APN |
4 |
34,721,562 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01133:Cfap206
|
APN |
4 |
34,721,562 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01135:Cfap206
|
APN |
4 |
34,721,562 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01147:Cfap206
|
APN |
4 |
34,721,562 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01152:Cfap206
|
APN |
4 |
34,721,562 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01153:Cfap206
|
APN |
4 |
34,721,562 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01154:Cfap206
|
APN |
4 |
34,721,562 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01155:Cfap206
|
APN |
4 |
34,721,562 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01289:Cfap206
|
APN |
4 |
34,716,469 (GRCm39) |
missense |
probably null |
0.98 |
IGL01845:Cfap206
|
APN |
4 |
34,719,610 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL03241:Cfap206
|
APN |
4 |
34,711,553 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03405:Cfap206
|
APN |
4 |
34,716,445 (GRCm39) |
missense |
possibly damaging |
0.82 |
ANU05:Cfap206
|
UTSW |
4 |
34,721,562 (GRCm39) |
missense |
probably damaging |
1.00 |
BB001:Cfap206
|
UTSW |
4 |
34,728,833 (GRCm39) |
missense |
probably benign |
0.10 |
BB011:Cfap206
|
UTSW |
4 |
34,728,833 (GRCm39) |
missense |
probably benign |
0.10 |
R0012:Cfap206
|
UTSW |
4 |
34,714,519 (GRCm39) |
missense |
possibly damaging |
0.76 |
R0689:Cfap206
|
UTSW |
4 |
34,722,668 (GRCm39) |
missense |
probably benign |
0.23 |
R0730:Cfap206
|
UTSW |
4 |
34,711,391 (GRCm39) |
missense |
probably benign |
|
R1567:Cfap206
|
UTSW |
4 |
34,716,490 (GRCm39) |
missense |
probably benign |
0.01 |
R1694:Cfap206
|
UTSW |
4 |
34,719,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R1706:Cfap206
|
UTSW |
4 |
34,688,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R1837:Cfap206
|
UTSW |
4 |
34,728,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R1909:Cfap206
|
UTSW |
4 |
34,722,714 (GRCm39) |
missense |
probably benign |
|
R2098:Cfap206
|
UTSW |
4 |
34,719,053 (GRCm39) |
nonsense |
probably null |
|
R2568:Cfap206
|
UTSW |
4 |
34,711,566 (GRCm39) |
nonsense |
probably null |
|
R3125:Cfap206
|
UTSW |
4 |
34,716,310 (GRCm39) |
missense |
possibly damaging |
0.48 |
R3784:Cfap206
|
UTSW |
4 |
34,716,445 (GRCm39) |
missense |
probably damaging |
0.99 |
R5249:Cfap206
|
UTSW |
4 |
34,714,502 (GRCm39) |
missense |
probably benign |
|
R5483:Cfap206
|
UTSW |
4 |
34,711,404 (GRCm39) |
missense |
probably benign |
0.39 |
R5569:Cfap206
|
UTSW |
4 |
34,724,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R6247:Cfap206
|
UTSW |
4 |
34,692,530 (GRCm39) |
missense |
probably benign |
|
R6555:Cfap206
|
UTSW |
4 |
34,719,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R6791:Cfap206
|
UTSW |
4 |
34,711,414 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6865:Cfap206
|
UTSW |
4 |
34,714,448 (GRCm39) |
missense |
possibly damaging |
0.57 |
R7164:Cfap206
|
UTSW |
4 |
34,719,656 (GRCm39) |
missense |
probably benign |
|
R7814:Cfap206
|
UTSW |
4 |
34,716,347 (GRCm39) |
missense |
probably benign |
0.01 |
R7924:Cfap206
|
UTSW |
4 |
34,728,833 (GRCm39) |
missense |
probably benign |
0.10 |
R8092:Cfap206
|
UTSW |
4 |
34,728,897 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8240:Cfap206
|
UTSW |
4 |
34,728,902 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R8323:Cfap206
|
UTSW |
4 |
34,719,647 (GRCm39) |
missense |
probably benign |
0.00 |
R8969:Cfap206
|
UTSW |
4 |
34,692,522 (GRCm39) |
missense |
probably benign |
0.00 |
R9144:Cfap206
|
UTSW |
4 |
34,722,667 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9336:Cfap206
|
UTSW |
4 |
34,716,494 (GRCm39) |
missense |
probably benign |
|
Z1176:Cfap206
|
UTSW |
4 |
34,719,661 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Posted On |
2015-04-16 |