Incidental Mutation 'IGL01133:Cfap206'
| ID |
278203 |
| 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 # |
IGL01133
|
| 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 |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Adam4 |
T |
C |
12: 81,468,220 (GRCm39) |
T134A |
possibly damaging |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Cartpt |
T |
G |
13: 100,036,548 (GRCm39) |
I67L |
probably benign |
Het |
| Cc2d1a |
G |
T |
8: 84,870,033 (GRCm39) |
H161N |
probably benign |
Het |
| Ccer1 |
T |
C |
10: 97,530,401 (GRCm39) |
F355L |
probably benign |
Het |
| Cert1 |
A |
G |
13: 96,751,310 (GRCm39) |
E320G |
probably damaging |
Het |
| Cfap299 |
T |
C |
5: 98,646,240 (GRCm39) |
|
probably null |
Het |
| Cfap36 |
A |
C |
11: 29,184,414 (GRCm39) |
V114G |
probably damaging |
Het |
| Cyp2b9 |
G |
A |
7: 25,909,660 (GRCm39) |
G476D |
probably damaging |
Het |
| Eif3l |
T |
C |
15: 78,961,120 (GRCm39) |
Y58H |
possibly damaging |
Het |
| Gapvd1 |
T |
C |
2: 34,615,410 (GRCm39) |
Y411C |
probably damaging |
Het |
| Gm27029 |
G |
T |
11: 101,302,786 (GRCm39) |
F236L |
possibly damaging |
Het |
| Golga1 |
T |
C |
2: 38,913,484 (GRCm39) |
T501A |
probably benign |
Het |
| Heg1 |
C |
T |
16: 33,547,657 (GRCm39) |
H815Y |
probably benign |
Het |
| Krt1 |
A |
T |
15: 101,756,628 (GRCm39) |
D298E |
probably damaging |
Het |
| Mecr |
T |
A |
4: 131,570,907 (GRCm39) |
S32T |
probably benign |
Het |
| Med1 |
A |
T |
11: 98,048,812 (GRCm39) |
Y661* |
probably null |
Het |
| Or10z1 |
T |
C |
1: 174,078,092 (GRCm39) |
S134G |
probably benign |
Het |
| Pla2g12b |
G |
T |
10: 59,252,239 (GRCm39) |
A37S |
probably benign |
Het |
| Plekha7 |
G |
T |
7: 115,744,476 (GRCm39) |
|
probably null |
Het |
| Ralgapa1 |
T |
C |
12: 55,689,133 (GRCm39) |
I1989V |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,689,144 (GRCm39) |
H1938R |
probably damaging |
Het |
| Sanbr |
A |
T |
11: 23,545,434 (GRCm39) |
D486E |
probably damaging |
Het |
| Sec31b |
A |
G |
19: 44,515,480 (GRCm39) |
F309S |
probably damaging |
Het |
| Serpina3a |
T |
C |
12: 104,087,758 (GRCm39) |
I227T |
probably benign |
Het |
| Slc1a3 |
A |
G |
15: 8,675,171 (GRCm39) |
I278T |
probably damaging |
Het |
| Slc1a3 |
T |
C |
15: 8,680,477 (GRCm39) |
Y127C |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,217,212 (GRCm39) |
K449R |
unknown |
Het |
| Thoc2l |
A |
G |
5: 104,665,528 (GRCm39) |
T17A |
probably benign |
Het |
| Tmem130 |
A |
G |
5: 144,689,255 (GRCm39) |
S129P |
probably damaging |
Het |
| Trim68 |
A |
T |
7: 102,328,348 (GRCm39) |
|
probably null |
Het |
| Vdac3-ps1 |
T |
C |
13: 18,206,034 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r75 |
A |
G |
7: 85,797,240 (GRCm39) |
|
probably benign |
Het |
| Zbtb9 |
G |
T |
17: 27,193,985 (GRCm39) |
|
probably benign |
Het |
| Zfp568 |
T |
A |
7: 29,687,233 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
Incidental Mutation