Incidental Mutation 'IGL01155:Cfap206'
ID |
278230 |
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 # |
IGL01155
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
34688559-34730206 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 34721562 bp (GRCm39)
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
Adgrl3 |
T |
A |
5: 81,708,740 (GRCm39) |
I409N |
probably benign |
Het |
Akap13 |
A |
G |
7: 75,219,684 (GRCm39) |
D29G |
probably damaging |
Het |
Ap4e1 |
C |
A |
2: 126,885,365 (GRCm39) |
T322K |
probably damaging |
Het |
Arfgef1 |
G |
A |
1: 10,269,207 (GRCm39) |
|
probably benign |
Het |
Asic5 |
A |
G |
3: 81,915,895 (GRCm39) |
T282A |
probably benign |
Het |
Bptf |
T |
C |
11: 106,971,553 (GRCm39) |
T985A |
probably damaging |
Het |
Btnl9 |
A |
G |
11: 49,066,518 (GRCm39) |
F349L |
probably damaging |
Het |
Bves |
T |
A |
10: 45,229,955 (GRCm39) |
I253K |
probably damaging |
Het |
Cars1 |
T |
A |
7: 143,123,586 (GRCm39) |
Y455F |
probably benign |
Het |
Cuedc2 |
C |
A |
19: 46,321,088 (GRCm39) |
V15F |
probably damaging |
Het |
Defa22 |
T |
A |
8: 21,653,053 (GRCm39) |
|
probably null |
Het |
Fat1 |
G |
A |
8: 45,476,986 (GRCm39) |
A2011T |
probably damaging |
Het |
Fyb2 |
C |
T |
4: 104,856,583 (GRCm39) |
T533I |
probably benign |
Het |
Gm1043 |
T |
C |
5: 37,344,433 (GRCm39) |
L182P |
probably damaging |
Het |
Ice1 |
A |
T |
13: 70,752,201 (GRCm39) |
V1295E |
possibly damaging |
Het |
Il12b |
T |
A |
11: 44,294,915 (GRCm39) |
S18T |
probably benign |
Het |
Iqcg |
A |
G |
16: 32,861,245 (GRCm39) |
V157A |
probably damaging |
Het |
Itgax |
T |
A |
7: 127,744,207 (GRCm39) |
M937K |
probably benign |
Het |
Large1 |
T |
C |
8: 73,858,617 (GRCm39) |
S84G |
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,660,947 (GRCm39) |
T54A |
probably benign |
Het |
Mfn1 |
A |
G |
3: 32,596,985 (GRCm39) |
M148V |
probably damaging |
Het |
Mobp |
C |
A |
9: 119,997,300 (GRCm39) |
T73K |
probably benign |
Het |
Ms4a3 |
T |
C |
19: 11,607,019 (GRCm39) |
|
probably benign |
Het |
Muc5ac |
C |
T |
7: 141,360,680 (GRCm39) |
|
probably benign |
Het |
Mzt2 |
A |
C |
16: 15,680,274 (GRCm39) |
S104A |
possibly damaging |
Het |
Naa16 |
T |
A |
14: 79,622,155 (GRCm39) |
K27N |
probably damaging |
Het |
Nos1 |
T |
A |
5: 118,083,991 (GRCm39) |
I1267N |
probably damaging |
Het |
Or10j5 |
T |
A |
1: 172,784,491 (GRCm39) |
I43N |
probably benign |
Het |
Rara |
A |
G |
11: 98,859,010 (GRCm39) |
E153G |
possibly damaging |
Het |
Scn2a |
T |
G |
2: 65,548,092 (GRCm39) |
S66A |
probably damaging |
Het |
Slc6a1 |
A |
T |
6: 114,291,426 (GRCm39) |
|
probably null |
Het |
Sorbs3 |
A |
G |
14: 70,436,790 (GRCm39) |
V136A |
probably damaging |
Het |
Spink5 |
T |
A |
18: 44,114,214 (GRCm39) |
H143Q |
probably benign |
Het |
Susd2 |
G |
A |
10: 75,476,726 (GRCm39) |
T99I |
possibly damaging |
Het |
T |
C |
T |
17: 8,660,577 (GRCm39) |
|
probably null |
Het |
Tac2 |
G |
A |
10: 127,562,003 (GRCm39) |
|
probably null |
Het |
Tfap4 |
G |
T |
16: 4,365,223 (GRCm39) |
P180T |
probably damaging |
Het |
Trap1 |
G |
A |
16: 3,861,842 (GRCm39) |
Q641* |
probably null |
Het |
Unc119 |
A |
G |
11: 78,239,435 (GRCm39) |
N252S |
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 |
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 |
IGL02115:Cfap206
|
APN |
4 |
34,722,623 (GRCm39) |
missense |
possibly damaging |
0.54 |
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 |