Incidental Mutation 'IGL01147:Cfap206'
ID |
278215 |
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 # |
IGL01147
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
A |
G |
11: 94,234,611 (GRCm39) |
|
probably benign |
Het |
Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
Cdh1 |
C |
A |
8: 107,387,516 (GRCm39) |
T472K |
probably damaging |
Het |
Cfap57 |
A |
T |
4: 118,446,198 (GRCm39) |
V688E |
probably damaging |
Het |
Cfp |
G |
A |
X: 20,794,981 (GRCm39) |
R155C |
probably damaging |
Het |
Chst7 |
T |
C |
X: 19,926,991 (GRCm39) |
I346T |
probably damaging |
Het |
Crybg2 |
G |
A |
4: 133,816,575 (GRCm39) |
|
probably null |
Het |
Ctsc |
T |
A |
7: 87,951,479 (GRCm39) |
V242D |
possibly damaging |
Het |
Cyp27b1 |
C |
T |
10: 126,886,255 (GRCm39) |
T312I |
possibly damaging |
Het |
D6Wsu163e |
A |
G |
6: 126,921,815 (GRCm39) |
D80G |
possibly damaging |
Het |
Enpp3 |
G |
T |
10: 24,650,805 (GRCm39) |
T777K |
probably damaging |
Het |
H2-M1 |
T |
A |
17: 36,982,199 (GRCm39) |
H134L |
possibly damaging |
Het |
Heatr1 |
T |
C |
13: 12,452,793 (GRCm39) |
S2105P |
probably damaging |
Het |
Herc2 |
T |
C |
7: 55,806,697 (GRCm39) |
S2388P |
probably benign |
Het |
Igkv6-23 |
A |
G |
6: 70,237,922 (GRCm39) |
|
probably benign |
Het |
Il1rapl2 |
C |
T |
X: 137,121,325 (GRCm39) |
|
probably benign |
Het |
Itpka |
T |
C |
2: 119,573,254 (GRCm39) |
L132P |
probably benign |
Het |
Jak3 |
T |
C |
8: 72,136,047 (GRCm39) |
S616P |
probably benign |
Het |
Kcnj11 |
T |
C |
7: 45,748,193 (GRCm39) |
K377E |
probably benign |
Het |
Map4k3 |
A |
T |
17: 80,944,147 (GRCm39) |
|
probably null |
Het |
Parp1 |
T |
C |
1: 180,417,145 (GRCm39) |
I643T |
probably damaging |
Het |
Phf3 |
T |
C |
1: 30,843,250 (GRCm39) |
D1903G |
probably damaging |
Het |
Picalm |
G |
T |
7: 89,826,800 (GRCm39) |
S416I |
probably benign |
Het |
Pkn2 |
T |
C |
3: 142,534,770 (GRCm39) |
N285S |
probably benign |
Het |
Sh3gl2 |
A |
C |
4: 85,265,433 (GRCm39) |
|
probably benign |
Het |
Smpd1 |
C |
A |
7: 105,204,943 (GRCm39) |
T274K |
probably damaging |
Het |
Snap91 |
G |
A |
9: 86,680,611 (GRCm39) |
T424M |
probably benign |
Het |
Sox13 |
T |
A |
1: 133,320,873 (GRCm39) |
T46S |
probably benign |
Het |
Syne1 |
G |
A |
10: 5,002,691 (GRCm39) |
Q8075* |
probably null |
Het |
Trio |
T |
C |
15: 27,881,406 (GRCm39) |
E555G |
probably damaging |
Het |
Upf3b |
T |
C |
X: 36,360,586 (GRCm39) |
E298G |
probably damaging |
Het |
Vmn1r158 |
A |
G |
7: 22,490,204 (GRCm39) |
S2P |
probably benign |
Het |
Vmn1r6 |
T |
A |
6: 56,979,626 (GRCm39) |
L74H |
probably damaging |
Het |
Vwa2 |
T |
C |
19: 56,890,066 (GRCm39) |
S224P |
probably damaging |
Het |
Wbp1l |
T |
A |
19: 46,632,808 (GRCm39) |
V36E |
probably damaging |
Het |
Zfp367 |
A |
G |
13: 64,283,253 (GRCm39) |
S300P |
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 |
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 |
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 |