Incidental Mutation 'R3125:Cfap206'
ID |
264225 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap206
|
Ensembl Gene |
ENSMUSG00000028294 |
Gene Name |
cilia and flagella associated protein 206 |
Synonyms |
1700003M02Rik |
MMRRC Submission |
040598-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.235)
|
Stock # |
R3125 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
34688559-34730206 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 34716310 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 385
(H385L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103771
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029971]
[ENSMUST00000108136]
|
AlphaFold |
Q6PE87 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029971
AA Change: H385L
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000029971 Gene: ENSMUSG00000028294 AA Change: H385L
Domain | Start | End | E-Value | Type |
Pfam:DUF3508
|
214 |
491 |
6.1e-108 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108136
AA Change: H385L
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000103771 Gene: ENSMUSG00000028294 AA Change: H385L
Domain | Start | End | E-Value | Type |
Pfam:DUF3508
|
213 |
493 |
3.8e-127 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135563
|
Meta Mutation Damage Score |
0.0935 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (48/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox5 |
A |
T |
6: 116,404,098 (GRCm39) |
|
probably null |
Het |
Aoc1l1 |
A |
T |
6: 48,952,305 (GRCm39) |
I77F |
probably damaging |
Het |
Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Cep135 |
T |
C |
5: 76,769,210 (GRCm39) |
|
probably null |
Het |
Dach2 |
T |
C |
X: 112,729,664 (GRCm39) |
I417T |
possibly damaging |
Het |
Dcaf8l |
A |
T |
X: 88,448,327 (GRCm39) |
Y601N |
probably benign |
Het |
Dhx32 |
T |
C |
7: 133,327,085 (GRCm39) |
Y332C |
probably damaging |
Het |
Dlx1 |
T |
A |
2: 71,362,740 (GRCm39) |
W216R |
probably damaging |
Het |
Dna2 |
G |
A |
10: 62,784,981 (GRCm39) |
A33T |
possibly damaging |
Het |
Dyrk1a |
G |
A |
16: 94,469,660 (GRCm39) |
|
probably benign |
Het |
Fam227b |
T |
C |
2: 125,966,006 (GRCm39) |
T140A |
probably benign |
Het |
Fem1b |
T |
C |
9: 62,703,836 (GRCm39) |
I475V |
probably benign |
Het |
Fign |
T |
A |
2: 63,809,044 (GRCm39) |
Q742L |
possibly damaging |
Het |
Hip1r |
A |
G |
5: 124,138,204 (GRCm39) |
D766G |
probably benign |
Het |
Hsd17b12 |
C |
T |
2: 93,864,303 (GRCm39) |
R268Q |
probably benign |
Het |
Htt |
T |
C |
5: 34,961,875 (GRCm39) |
S287P |
probably benign |
Het |
Icam5 |
A |
G |
9: 20,947,954 (GRCm39) |
I617M |
probably benign |
Het |
Ifi27l2b |
T |
C |
12: 103,417,594 (GRCm39) |
T198A |
unknown |
Het |
Ip6k3 |
T |
C |
17: 27,376,516 (GRCm39) |
Y65C |
probably damaging |
Het |
Kif15 |
A |
C |
9: 122,817,026 (GRCm39) |
Q542P |
probably damaging |
Het |
Kit |
G |
T |
5: 75,808,487 (GRCm39) |
A744S |
probably benign |
Het |
Kit |
C |
T |
5: 75,808,488 (GRCm39) |
A744V |
probably null |
Het |
Lonp1 |
A |
G |
17: 56,933,488 (GRCm39) |
I129T |
possibly damaging |
Het |
Ltbp4 |
C |
T |
7: 27,027,203 (GRCm39) |
R389Q |
possibly damaging |
Het |
Map3k21 |
A |
T |
8: 126,668,593 (GRCm39) |
K726N |
probably benign |
Het |
Mcpt8 |
A |
T |
14: 56,321,398 (GRCm39) |
I22K |
probably damaging |
Het |
Npb |
G |
A |
11: 120,499,728 (GRCm39) |
V103I |
possibly damaging |
Het |
Or13a22 |
T |
C |
7: 140,072,764 (GRCm39) |
M71T |
probably benign |
Het |
Or2y3 |
G |
A |
17: 38,392,903 (GRCm39) |
|
probably null |
Het |
Plin2 |
G |
T |
4: 86,575,381 (GRCm39) |
Y389* |
probably null |
Het |
Pnpla6 |
G |
T |
8: 3,584,670 (GRCm39) |
G763C |
probably null |
Het |
Pnpla7 |
A |
G |
2: 24,932,150 (GRCm39) |
D935G |
probably damaging |
Het |
Prr29 |
A |
G |
11: 106,265,711 (GRCm39) |
S10G |
probably benign |
Het |
Pthlh |
A |
T |
6: 147,164,789 (GRCm39) |
V27E |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Serpina12 |
G |
A |
12: 104,004,242 (GRCm39) |
T130I |
probably benign |
Het |
Slc6a18 |
A |
G |
13: 73,825,921 (GRCm39) |
F43S |
probably damaging |
Het |
Stx6 |
C |
T |
1: 155,034,654 (GRCm39) |
P6S |
probably damaging |
Het |
Togaram1 |
G |
T |
12: 65,013,118 (GRCm39) |
R123L |
probably damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Trim9 |
C |
T |
12: 70,295,167 (GRCm39) |
G648R |
probably damaging |
Het |
Trpm2 |
T |
A |
10: 77,747,208 (GRCm39) |
N1430I |
probably damaging |
Het |
Trpm6 |
C |
G |
19: 18,831,795 (GRCm39) |
H1553Q |
probably benign |
Het |
Vav3 |
G |
A |
3: 109,535,484 (GRCm39) |
|
probably null |
Het |
Zfp574 |
G |
T |
7: 24,781,026 (GRCm39) |
A683S |
possibly 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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAGCTTTACCTGCAACAAAATC -3'
(R):5'- TGTGGATGAGCTTCCAGGAC -3'
Sequencing Primer
(F):5'- CAGCAAGGGTTTTTCTCAGTAC -3'
(R):5'- ACGAGACGGTTCTGATCAGC -3'
|
Posted On |
2015-02-05 |