Incidental Mutation 'R8323:Cfap206'
| ID |
643907 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap206
|
| Ensembl Gene |
ENSMUSG00000028294 |
| Gene Name |
cilia and flagella associated protein 206 |
| Synonyms |
1700003M02Rik |
| MMRRC Submission |
067724-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.235)
|
| Stock # |
R8323 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
34688559-34730206 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 34719647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 256
(E256K)
|
| 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: E256K
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000029971
Gene: ENSMUSG00000028294
AA Change: E256K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3508
|
214 |
491 |
6.1e-108 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108136
AA Change: E256K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103771
Gene: ENSMUSG00000028294
AA Change: E256K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3508
|
213 |
493 |
3.8e-127 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137514
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162495
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,649,351 (GRCm39) |
F6S |
probably benign |
Het |
| Braf |
T |
C |
6: 39,620,058 (GRCm39) |
T507A |
possibly damaging |
Het |
| Catsperb |
A |
C |
12: 101,375,658 (GRCm39) |
H24P |
probably benign |
Het |
| Ccdc57 |
G |
T |
11: 120,788,750 (GRCm39) |
Q366K |
possibly damaging |
Het |
| Cep295 |
G |
T |
9: 15,249,529 (GRCm39) |
T462K |
possibly damaging |
Het |
| Cep295 |
T |
A |
9: 15,264,357 (GRCm39) |
R96S |
probably damaging |
Het |
| Cfap251 |
A |
G |
5: 123,435,588 (GRCm39) |
N1016S |
probably benign |
Het |
| Cldn13 |
A |
G |
5: 134,943,828 (GRCm39) |
V119A |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 17,266,751 (GRCm39) |
C58* |
probably null |
Het |
| Csmd3 |
T |
C |
15: 47,561,547 (GRCm39) |
Y1343C |
|
Het |
| Dcbld2 |
T |
A |
16: 58,283,473 (GRCm39) |
|
probably null |
Het |
| Dnah14 |
A |
G |
1: 181,532,109 (GRCm39) |
I2299V |
probably benign |
Het |
| Dsp |
C |
T |
13: 38,356,806 (GRCm39) |
H229Y |
possibly damaging |
Het |
| Fam193b |
A |
T |
13: 55,702,223 (GRCm39) |
C51* |
probably null |
Het |
| Fbxw10 |
G |
A |
11: 62,767,506 (GRCm39) |
V781I |
probably benign |
Het |
| Fdps |
G |
T |
3: 89,002,696 (GRCm39) |
P151T |
possibly damaging |
Het |
| Galk2 |
C |
T |
2: 125,708,298 (GRCm39) |
H16Y |
probably benign |
Het |
| Gm1110 |
A |
G |
9: 26,813,719 (GRCm39) |
|
probably null |
Het |
| Gm3727 |
C |
T |
14: 7,261,693 (GRCm38) |
V204I |
probably benign |
Het |
| Gtf2h3 |
A |
G |
5: 124,720,534 (GRCm39) |
I13V |
probably benign |
Het |
| H2-T24 |
T |
A |
17: 36,328,431 (GRCm39) |
|
probably null |
Het |
| Heatr5a |
C |
T |
12: 52,002,289 (GRCm39) |
V216M |
probably benign |
Het |
| Hspg2 |
C |
G |
4: 137,246,290 (GRCm39) |
P1023A |
possibly damaging |
Het |
| Igfbp2 |
C |
T |
1: 72,888,780 (GRCm39) |
P224S |
probably damaging |
Het |
| Igkv17-127 |
A |
G |
6: 67,838,498 (GRCm39) |
I70V |
possibly damaging |
Het |
| Kif11 |
T |
A |
19: 37,372,692 (GRCm39) |
F27I |
possibly damaging |
Het |
| Lcor |
T |
C |
19: 41,572,036 (GRCm39) |
S264P |
probably benign |
Het |
| Lrrc28 |
G |
T |
7: 67,245,455 (GRCm39) |
T137K |
unknown |
Het |
| Lyg1 |
T |
A |
1: 37,989,018 (GRCm39) |
R67S |
probably damaging |
Het |
| Ms4a10 |
G |
A |
19: 10,940,363 (GRCm39) |
Q255* |
probably null |
Het |
| Myo1h |
A |
G |
5: 114,480,200 (GRCm39) |
R512G |
|
Het |
| Nmnat3 |
T |
C |
9: 98,292,276 (GRCm39) |
Y174H |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,378,255 (GRCm39) |
I19V |
probably benign |
Het |
| Nsf |
C |
A |
11: 103,819,665 (GRCm39) |
V35L |
probably benign |
Het |
| Or1e30 |
A |
T |
11: 73,677,766 (GRCm39) |
M1L |
probably damaging |
Het |
| Or2w6 |
T |
A |
13: 21,843,302 (GRCm39) |
M64L |
possibly damaging |
Het |
| Osbpl9 |
A |
G |
4: 108,965,119 (GRCm39) |
S116P |
probably benign |
Het |
| Pcdhb15 |
A |
C |
18: 37,608,715 (GRCm39) |
E649A |
probably benign |
Het |
| Pcdhb8 |
T |
A |
18: 37,488,476 (GRCm39) |
D51E |
probably benign |
Het |
| Plcl1 |
T |
A |
1: 55,736,895 (GRCm39) |
D745E |
possibly damaging |
Het |
| Prss3 |
A |
G |
6: 41,351,258 (GRCm39) |
L165P |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,793,532 (GRCm39) |
I1211N |
probably damaging |
Het |
| Rb1 |
A |
G |
14: 73,503,023 (GRCm39) |
V416A |
probably benign |
Het |
| Rnf111 |
T |
A |
9: 70,383,204 (GRCm39) |
Q243L |
probably benign |
Het |
| Sacm1l |
T |
C |
9: 123,377,987 (GRCm39) |
V89A |
probably benign |
Het |
| Sardh |
C |
T |
2: 27,125,576 (GRCm39) |
D313N |
probably damaging |
Het |
| Scin |
T |
C |
12: 40,129,681 (GRCm39) |
I371V |
probably benign |
Het |
| Scn10a |
C |
A |
9: 119,438,462 (GRCm39) |
L1801F |
possibly damaging |
Het |
| Sele |
G |
A |
1: 163,879,207 (GRCm39) |
V281M |
possibly damaging |
Het |
| Slc17a1 |
C |
A |
13: 24,071,982 (GRCm39) |
T400K |
probably damaging |
Het |
| Slc22a28 |
T |
A |
19: 8,108,788 (GRCm39) |
D118V |
probably damaging |
Het |
| Slc2a10 |
T |
A |
2: 165,356,671 (GRCm39) |
F110L |
probably benign |
Het |
| Slc51a |
A |
G |
16: 32,295,197 (GRCm39) |
S294P |
probably damaging |
Het |
| Snapc4 |
T |
C |
2: 26,254,711 (GRCm39) |
E1271G |
probably benign |
Het |
| Spata31 |
C |
A |
13: 65,070,065 (GRCm39) |
Q738K |
possibly damaging |
Het |
| Spdya |
A |
G |
17: 71,895,587 (GRCm39) |
D284G |
probably benign |
Het |
| Tdrd5 |
T |
C |
1: 156,094,832 (GRCm39) |
D757G |
possibly damaging |
Het |
| Tmem104 |
T |
C |
11: 115,134,199 (GRCm39) |
F245S |
probably damaging |
Het |
| Tmem170 |
A |
T |
8: 112,603,153 (GRCm39) |
S39T |
probably benign |
Het |
| Trim24 |
G |
T |
6: 37,892,233 (GRCm39) |
|
probably null |
Het |
| Uap1 |
A |
G |
1: 169,978,635 (GRCm39) |
V302A |
probably damaging |
Het |
| Vmn2r96 |
A |
T |
17: 18,803,023 (GRCm39) |
Y311F |
probably damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,512,252 (GRCm39) |
D46E |
possibly damaging |
Het |
| Zdbf2 |
G |
A |
1: 63,342,073 (GRCm39) |
V151I |
possibly damaging |
Het |
| Zfp747l1 |
A |
T |
7: 126,983,621 (GRCm39) |
C494S |
possibly damaging |
Het |
| Zfp943 |
A |
G |
17: 22,211,763 (GRCm39) |
Q283R |
possibly damaging |
Het |
| Zfp944 |
A |
T |
17: 22,558,235 (GRCm39) |
D337E |
probably benign |
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 |
|
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 |
|
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'- AACTTCCTGAGGTTGCCACC -3'
(R):5'- GTGGGGCTACAAAAGACATTCC -3'
Sequencing Primer
(F):5'- GTTGCCACCTTTGGGAGTCAC -3'
(R):5'- TAGACTCCCAGCTTCAGA -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation