Incidental Mutation 'R3784:Cfap206'
ID |
272162 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap206
|
Ensembl Gene |
ENSMUSG00000028294 |
Gene Name |
cilia and flagella associated protein 206 |
Synonyms |
1700003M02Rik |
MMRRC Submission |
040876-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.216)
|
Stock # |
R3784 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
34688559-34730206 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 34716445 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 340
(I340N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103771
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029971]
[ENSMUST00000108136]
[ENSMUST00000137514]
[ENSMUST00000162495]
|
AlphaFold |
Q6PE87 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029971
AA Change: I340N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000029971 Gene: ENSMUSG00000028294 AA Change: I340N
Domain | Start | End | E-Value | Type |
Pfam:DUF3508
|
214 |
491 |
6.1e-108 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108136
AA Change: I340N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103771 Gene: ENSMUSG00000028294 AA Change: I340N
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162495
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
3110082I17Rik |
G |
T |
5: 139,441,197 (GRCm39) |
P35Q |
probably damaging |
Het |
Adam11 |
T |
C |
11: 102,665,193 (GRCm39) |
|
probably null |
Het |
Ank2 |
A |
G |
3: 126,746,842 (GRCm39) |
L581P |
probably damaging |
Het |
Armc2 |
T |
C |
10: 41,798,190 (GRCm39) |
I779V |
probably benign |
Het |
Atp8a2 |
A |
T |
14: 60,011,415 (GRCm39) |
Y965N |
probably damaging |
Het |
C3 |
A |
G |
17: 57,533,067 (GRCm39) |
V146A |
probably damaging |
Het |
Col3a1 |
A |
G |
1: 45,386,295 (GRCm39) |
D145G |
probably damaging |
Het |
Drosha |
A |
G |
15: 12,890,615 (GRCm39) |
D954G |
possibly damaging |
Het |
Fam161b |
A |
T |
12: 84,408,464 (GRCm39) |
|
probably null |
Het |
Fat2 |
C |
T |
11: 55,147,012 (GRCm39) |
A3995T |
probably benign |
Het |
Foxg1 |
A |
G |
12: 49,432,382 (GRCm39) |
T372A |
probably benign |
Het |
Heatr1 |
G |
T |
13: 12,449,341 (GRCm39) |
L1946F |
probably damaging |
Het |
Hook1 |
T |
C |
4: 95,877,888 (GRCm39) |
F55L |
probably damaging |
Het |
Iars2 |
T |
C |
1: 185,019,328 (GRCm39) |
K986R |
probably benign |
Het |
Inpp5k |
T |
C |
11: 75,538,512 (GRCm39) |
L461P |
probably damaging |
Het |
Klra8 |
T |
A |
6: 130,102,018 (GRCm39) |
D139V |
probably benign |
Het |
Mical3 |
T |
C |
6: 120,998,298 (GRCm39) |
Y20C |
probably benign |
Het |
Myo15a |
A |
T |
11: 60,368,398 (GRCm39) |
Y386F |
probably damaging |
Het |
Ncoa6 |
G |
A |
2: 155,249,677 (GRCm39) |
T1209I |
probably damaging |
Het |
Nsa2 |
G |
T |
13: 97,272,042 (GRCm39) |
Q60K |
possibly damaging |
Het |
Olfml2b |
A |
G |
1: 170,509,551 (GRCm39) |
D633G |
probably damaging |
Het |
Plekhg3 |
T |
C |
12: 76,607,294 (GRCm39) |
|
probably null |
Het |
Plxna2 |
T |
A |
1: 194,326,925 (GRCm39) |
D286E |
probably benign |
Het |
Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
Prmt7 |
C |
A |
8: 106,968,768 (GRCm39) |
Q361K |
probably benign |
Het |
Prrc2c |
T |
C |
1: 162,537,238 (GRCm39) |
|
probably benign |
Het |
Psg27 |
T |
A |
7: 18,294,279 (GRCm39) |
Q376L |
probably damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rad51b |
C |
T |
12: 79,347,419 (GRCm39) |
Q28* |
probably null |
Het |
Rala |
T |
A |
13: 18,057,031 (GRCm39) |
E185V |
probably benign |
Het |
Sall4 |
A |
G |
2: 168,598,043 (GRCm39) |
S266P |
probably damaging |
Het |
Senp6 |
T |
G |
9: 79,999,568 (GRCm39) |
I74S |
probably benign |
Het |
Spats2l |
A |
G |
1: 57,924,938 (GRCm39) |
E112G |
probably damaging |
Het |
Synrg |
T |
C |
11: 83,892,746 (GRCm39) |
F613S |
probably damaging |
Het |
Taf15 |
G |
A |
11: 83,397,248 (GRCm39) |
D313N |
unknown |
Het |
Tekt1 |
A |
G |
11: 72,235,720 (GRCm39) |
I376T |
probably damaging |
Het |
Thbs4 |
T |
C |
13: 92,909,672 (GRCm39) |
N375S |
probably benign |
Het |
Tubb6 |
A |
G |
18: 67,526,063 (GRCm39) |
T72A |
possibly damaging |
Het |
Txndc16 |
A |
T |
14: 45,403,343 (GRCm39) |
V32E |
probably damaging |
Het |
Vmn1r200 |
A |
T |
13: 22,580,025 (GRCm39) |
Y276F |
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 |
|
R3125:Cfap206
|
UTSW |
4 |
34,716,310 (GRCm39) |
missense |
possibly damaging |
0.48 |
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'- GAGTGACTTTAAGCTAACGGTCAC -3'
(R):5'- CTGGTGTGACAAGACTAGGACC -3'
Sequencing Primer
(F):5'- TAAGCTAACGGTCACCTTAAAGAG -3'
(R):5'- GGACCTGTAGACAAATGAGTTTC -3'
|
Posted On |
2015-03-25 |