Incidental Mutation 'R8240:Cfap206'
| ID |
640902 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap206
|
| Ensembl Gene |
ENSMUSG00000028294 |
| Gene Name |
cilia and flagella associated protein 206 |
| Synonyms |
1700003M02Rik |
| MMRRC Submission |
067671-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.235)
|
| Stock # |
R8240 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
34688559-34730206 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to G
at 34728902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029971]
[ENSMUST00000108136]
[ENSMUST00000137514]
[ENSMUST00000162495]
|
| AlphaFold |
Q6PE87 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029971
AA Change: M1T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029971
Gene: ENSMUSG00000028294
AA Change: M1T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3508
|
214 |
491 |
6.1e-108 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108136
AA Change: M1T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103771
Gene: ENSMUSG00000028294
AA Change: M1T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3508
|
213 |
493 |
3.8e-127 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000137514
AA Change: M1T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162495
AA Change: M1T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610524H06Rik |
A |
T |
5: 114,961,472 (GRCm39) |
V12E |
probably benign |
Het |
| Ahnak2 |
A |
G |
12: 112,741,082 (GRCm39) |
F997L |
probably benign |
Het |
| Baiap3 |
A |
T |
17: 25,464,288 (GRCm39) |
|
probably null |
Het |
| Cct6b |
A |
G |
11: 82,614,650 (GRCm39) |
I446T |
probably damaging |
Het |
| Clca4a |
T |
C |
3: 144,676,488 (GRCm39) |
Y64C |
probably damaging |
Het |
| Col24a1 |
A |
T |
3: 145,213,457 (GRCm39) |
Q1354L |
probably benign |
Het |
| Coro7 |
A |
G |
16: 4,486,660 (GRCm39) |
V171A |
probably damaging |
Het |
| Cyp3a44 |
G |
A |
5: 145,725,257 (GRCm39) |
L315F |
probably damaging |
Het |
| Frem1 |
T |
A |
4: 82,874,485 (GRCm39) |
D1379V |
probably benign |
Het |
| Gstm6 |
T |
A |
3: 107,849,453 (GRCm39) |
D119V |
probably damaging |
Het |
| Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,269 (GRCm39) |
|
probably benign |
Het |
| Hibch |
T |
A |
1: 52,940,494 (GRCm39) |
|
probably null |
Het |
| Il1rap |
G |
A |
16: 26,520,001 (GRCm39) |
E356K |
probably benign |
Het |
| Itm2c |
G |
T |
1: 85,822,457 (GRCm39) |
G25C |
probably benign |
Het |
| Klhl8 |
C |
T |
5: 104,015,392 (GRCm39) |
V511I |
probably damaging |
Het |
| Mcee |
A |
G |
7: 64,061,665 (GRCm39) |
H156R |
possibly damaging |
Het |
| Myh3 |
C |
A |
11: 66,983,196 (GRCm39) |
Q908K |
probably benign |
Het |
| Ncoa7 |
A |
G |
10: 30,567,725 (GRCm39) |
S318P |
probably benign |
Het |
| Nhsl1 |
A |
G |
10: 18,402,487 (GRCm39) |
N1208D |
probably benign |
Het |
| Or10p21 |
T |
A |
10: 128,847,766 (GRCm39) |
I204K |
possibly damaging |
Het |
| Or4a15 |
C |
T |
2: 89,192,896 (GRCm39) |
M292I |
probably benign |
Het |
| P2rx7 |
C |
T |
5: 122,793,096 (GRCm39) |
P140S |
probably damaging |
Het |
| Plcd4 |
C |
G |
1: 74,593,660 (GRCm39) |
H262D |
probably benign |
Het |
| Prps1l1 |
T |
C |
12: 35,035,140 (GRCm39) |
V85A |
probably damaging |
Het |
| Prss27 |
G |
A |
17: 24,263,919 (GRCm39) |
V202I |
probably benign |
Het |
| Rtn4r |
A |
T |
16: 17,969,258 (GRCm39) |
M229L |
probably benign |
Het |
| Slc43a1 |
A |
G |
2: 84,690,167 (GRCm39) |
H491R |
possibly damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,253,481 (GRCm39) |
D83G |
probably benign |
Het |
| Spag6l |
A |
G |
16: 16,580,889 (GRCm39) |
V486A |
probably damaging |
Het |
| Sspo |
A |
T |
6: 48,460,436 (GRCm39) |
Q3408L |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,624,388 (GRCm39) |
D1854G |
probably benign |
Het |
| Tjp3 |
G |
A |
10: 81,109,641 (GRCm39) |
T854I |
probably benign |
Het |
| Tmsb10b |
A |
C |
7: 24,561,805 (GRCm39) |
I35L |
probably benign |
Het |
| Trim30a |
C |
T |
7: 104,070,663 (GRCm39) |
G250D |
probably benign |
Het |
| Ttll1 |
G |
T |
15: 83,376,783 (GRCm39) |
D313E |
probably damaging |
Het |
| Zfp160 |
A |
T |
17: 21,246,350 (GRCm39) |
N300I |
probably damaging |
Het |
| Zfp458 |
C |
T |
13: 67,406,190 (GRCm39) |
C83Y |
probably damaging |
Het |
| Zmym4 |
A |
T |
4: 126,798,188 (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 |
|
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 |
|
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'- AGGGTGGCATGATTTAAATTCAGG -3'
Sequencing Primer
(F):5'- GAGTACACTGTAGCTGTCTTCAGAC -3'
(R):5'- CTCAGTAGACAGTGTGGA -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation