Incidental Mutation 'R8092:Cfap206'
| ID |
629934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap206
|
| Ensembl Gene |
ENSMUSG00000028294 |
| Gene Name |
cilia and flagella associated protein 206 |
| Synonyms |
1700003M02Rik |
| MMRRC Submission |
067524-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R8092 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
34688559-34730206 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 34728897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 3
(P3S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029971]
[ENSMUST00000108136]
[ENSMUST00000137514]
[ENSMUST00000162495]
|
| AlphaFold |
Q6PE87 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029971
AA Change: P3S
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000029971
Gene: ENSMUSG00000028294
AA Change: P3S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3508
|
214 |
491 |
6.1e-108 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108136
AA Change: P3S
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103771
Gene: ENSMUSG00000028294
AA Change: P3S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3508
|
213 |
493 |
3.8e-127 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137514
AA Change: P3S
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162495
AA Change: P3S
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 97.5%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
T |
C |
12: 88,427,831 (GRCm39) |
S483P |
possibly damaging |
Het |
| Agr3 |
T |
A |
12: 35,997,593 (GRCm39) |
|
probably null |
Het |
| Anxa4 |
T |
C |
6: 86,718,873 (GRCm39) |
D282G |
probably damaging |
Het |
| Aplp2 |
A |
C |
9: 31,074,640 (GRCm39) |
|
probably null |
Het |
| Arfgef2 |
G |
A |
2: 166,701,754 (GRCm39) |
V714M |
probably damaging |
Het |
| Cep295 |
A |
T |
9: 15,244,278 (GRCm39) |
F1393I |
probably benign |
Het |
| Chd5 |
T |
A |
4: 152,463,261 (GRCm39) |
D1410E |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,455,184 (GRCm39) |
Y1101C |
probably damaging |
Het |
| Chtf8 |
A |
G |
8: 107,612,938 (GRCm39) |
V121A |
possibly damaging |
Het |
| Dnajc3 |
A |
T |
14: 119,207,994 (GRCm39) |
|
probably null |
Het |
| Dpys |
C |
T |
15: 39,710,010 (GRCm39) |
D140N |
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,415,029 (GRCm39) |
Y642C |
probably damaging |
Het |
| Eif2ak4 |
G |
A |
2: 118,272,513 (GRCm39) |
V901I |
probably damaging |
Het |
| Gm45861 |
T |
C |
8: 28,057,823 (GRCm39) |
M1127T |
unknown |
Het |
| Gnpnat1 |
A |
G |
14: 45,618,388 (GRCm39) |
|
probably null |
Het |
| Hsd3b6 |
T |
A |
3: 98,713,456 (GRCm39) |
D281V |
possibly damaging |
Het |
| Kng2 |
T |
A |
16: 22,806,672 (GRCm39) |
Q509L |
probably benign |
Het |
| Lipo2 |
A |
T |
19: 33,726,880 (GRCm39) |
D52E |
probably benign |
Het |
| Ly6g6c |
A |
G |
17: 35,287,867 (GRCm39) |
Y27C |
probably damaging |
Het |
| Mcc |
G |
A |
18: 44,892,299 (GRCm39) |
T105I |
probably benign |
Het |
| Neurl4 |
A |
G |
11: 69,801,891 (GRCm39) |
K1279E |
probably benign |
Het |
| Ntmt2 |
A |
G |
1: 163,544,819 (GRCm39) |
Y55H |
probably damaging |
Het |
| Ntn4 |
A |
C |
10: 93,576,918 (GRCm39) |
K529Q |
probably damaging |
Het |
| Or4f57 |
C |
A |
2: 111,790,652 (GRCm39) |
M255I |
probably benign |
Het |
| P2ry14 |
C |
T |
3: 59,022,867 (GRCm39) |
V198M |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,727,560 (GRCm39) |
D2139E |
unknown |
Het |
| Plxnb1 |
T |
A |
9: 108,929,573 (GRCm39) |
V143E |
probably damaging |
Het |
| Prune2 |
G |
T |
19: 17,097,357 (GRCm39) |
D954Y |
probably damaging |
Het |
| Qrsl1 |
G |
A |
10: 43,760,749 (GRCm39) |
P278L |
probably damaging |
Het |
| Rnf17 |
C |
T |
14: 56,724,479 (GRCm39) |
R1108C |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,145,907 (GRCm39) |
S1716G |
probably benign |
Het |
| Slfn4 |
A |
T |
11: 83,079,831 (GRCm39) |
H507L |
probably benign |
Het |
| Snx18 |
T |
C |
13: 113,753,685 (GRCm39) |
E416G |
probably damaging |
Het |
| Srp9 |
T |
C |
1: 181,959,001 (GRCm39) |
V81A |
probably benign |
Het |
| Tex101 |
G |
A |
7: 24,369,778 (GRCm39) |
T62M |
probably damaging |
Het |
| Utp25 |
G |
A |
1: 192,802,671 (GRCm39) |
L349F |
probably benign |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Zbtb42 |
G |
T |
12: 112,646,275 (GRCm39) |
C150F |
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 |
|
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 |
|
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'- GCATCAGGAAAACGCCTAAG -3'
(R):5'- AAATCCCAGTTACTCTCTGTCATTAGC -3'
Sequencing Primer
(F):5'- GAGTACACTGTAGCTGTCTTCAGAC -3'
(R):5'- CTCAGTAGACAGTGTGGA -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation