Incidental Mutation 'R2568:Cfap206'
| ID |
254615 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap206
|
| Ensembl Gene |
ENSMUSG00000028294 |
| Gene Name |
cilia and flagella associated protein 206 |
| Synonyms |
1700003M02Rik |
| MMRRC Submission |
040427-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.307)
|
| Stock # |
R2568 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
34688559-34730206 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 34711566 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 444
(K444*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029971]
[ENSMUST00000108136]
|
| AlphaFold |
Q6PE87 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029971
AA Change: K444*
|
| SMART Domains |
Protein: ENSMUSP00000029971
Gene: ENSMUSG00000028294
AA Change: K444*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3508
|
214 |
491 |
6.1e-108 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108136
AA Change: K444*
|
| SMART Domains |
Protein: ENSMUSP00000103771
Gene: ENSMUSG00000028294
AA Change: K444*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3508
|
213 |
493 |
3.8e-127 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135563
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410089E03Rik |
T |
C |
15: 8,201,269 (GRCm38) |
V1010A |
possibly damaging |
Het |
| 4930563D23Rik |
A |
G |
16: 92,321,319 (GRCm38) |
L27P |
probably damaging |
Het |
| A730071L15Rik |
A |
T |
11: 6,200,161 (GRCm38) |
|
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,333,310 (GRCm38) |
N3244I |
probably benign |
Het |
| Adgrf5 |
A |
G |
17: 43,437,671 (GRCm38) |
T219A |
probably damaging |
Het |
| Adgrg5 |
A |
T |
8: 94,934,021 (GRCm38) |
N92I |
probably damaging |
Het |
| Agt |
A |
C |
8: 124,556,955 (GRCm38) |
V475G |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 52,887,278 (GRCm38) |
K518E |
possibly damaging |
Het |
| Apoh |
T |
G |
11: 108,404,871 (GRCm38) |
D133E |
probably benign |
Het |
| Axdnd1 |
T |
A |
1: 156,392,749 (GRCm38) |
M234L |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 30,082,511 (GRCm38) |
I1335T |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 122,862,024 (GRCm38) |
R279Q |
probably damaging |
Het |
| Clasp2 |
A |
G |
9: 113,878,764 (GRCm38) |
I614M |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 106,063,076 (GRCm38) |
D1218E |
possibly damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,741,236 (GRCm38) |
|
probably null |
Het |
| D130043K22Rik |
C |
T |
13: 24,883,891 (GRCm38) |
T870M |
probably damaging |
Het |
| Dagla |
C |
A |
19: 10,248,152 (GRCm38) |
A883S |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 110,097,195 (GRCm38) |
V87A |
probably damaging |
Het |
| Dtx1 |
C |
A |
5: 120,710,184 (GRCm38) |
V44L |
possibly damaging |
Het |
| Ecm2 |
T |
A |
13: 49,530,129 (GRCm38) |
S528T |
possibly damaging |
Het |
| Egfem1 |
A |
T |
3: 29,582,931 (GRCm38) |
N172I |
probably damaging |
Het |
| Fam102b |
T |
A |
3: 108,978,848 (GRCm38) |
N356I |
probably benign |
Het |
| Fam13a |
T |
G |
6: 58,935,609 (GRCm38) |
R686S |
probably damaging |
Het |
| Fmo1 |
T |
A |
1: 162,836,259 (GRCm38) |
I234L |
probably benign |
Het |
| Foxj2 |
C |
T |
6: 122,828,372 (GRCm38) |
R68W |
probably damaging |
Het |
| Foxo6 |
A |
T |
4: 120,268,764 (GRCm38) |
M278K |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,990,431 (GRCm38) |
S5503G |
probably benign |
Het |
| Gdf5 |
C |
G |
2: 155,942,090 (GRCm38) |
R100G |
probably benign |
Het |
| Il1b |
A |
T |
2: 129,367,322 (GRCm38) |
D129E |
probably damaging |
Het |
| Klhl29 |
A |
G |
12: 5,091,350 (GRCm38) |
S545P |
probably damaging |
Het |
| Krt83 |
G |
T |
15: 101,487,827 (GRCm38) |
R296S |
possibly damaging |
Het |
| Llgl1 |
T |
G |
11: 60,708,812 (GRCm38) |
S509R |
probably damaging |
Het |
| Lmod1 |
A |
T |
1: 135,363,964 (GRCm38) |
K186* |
probably null |
Het |
| Lrpprc |
C |
T |
17: 84,726,649 (GRCm38) |
A973T |
probably damaging |
Het |
| Marco |
T |
C |
1: 120,494,785 (GRCm38) |
H49R |
possibly damaging |
Het |
| Mylk4 |
T |
C |
13: 32,722,018 (GRCm38) |
N394S |
probably null |
Het |
| Myo5a |
T |
C |
9: 75,151,897 (GRCm38) |
V469A |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,123,040 (GRCm38) |
Y147C |
probably damaging |
Het |
| Myot |
A |
G |
18: 44,337,216 (GRCm38) |
T87A |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,597,564 (GRCm38) |
H2154R |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 14,999,112 (GRCm38) |
E1037G |
possibly damaging |
Het |
| Olfr181 |
A |
G |
16: 58,925,923 (GRCm38) |
V216A |
probably benign |
Het |
| Olfr341 |
T |
C |
2: 36,479,974 (GRCm38) |
D52G |
probably damaging |
Het |
| Olfr677 |
A |
G |
7: 105,056,671 (GRCm38) |
T142A |
probably benign |
Het |
| Pitrm1 |
G |
T |
13: 6,575,092 (GRCm38) |
V869F |
probably benign |
Het |
| Plekhm3 |
CCTGCTGCTGCTGCTGCTGCTGCTGC |
CCTGCTGCTGCTGCTGCTGCTGC |
1: 64,937,781 (GRCm38) |
|
probably benign |
Het |
| Prdx1 |
T |
G |
4: 116,693,800 (GRCm38) |
I156S |
probably benign |
Het |
| Rbks |
T |
A |
5: 31,665,752 (GRCm38) |
T107S |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,675,874 (GRCm38) |
R3468W |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,273,469 (GRCm38) |
D1805N |
probably damaging |
Het |
| Sirpa |
T |
C |
2: 129,615,648 (GRCm38) |
V214A |
probably benign |
Het |
| Slc35c1 |
T |
C |
2: 92,458,880 (GRCm38) |
N94D |
probably benign |
Het |
| Sorbs2 |
A |
T |
8: 45,795,370 (GRCm38) |
K553* |
probably null |
Het |
| Tectb |
C |
G |
19: 55,180,999 (GRCm38) |
|
probably benign |
Het |
| Thg1l |
A |
G |
11: 45,951,565 (GRCm38) |
V142A |
probably benign |
Het |
| Tiparp |
T |
A |
3: 65,553,130 (GRCm38) |
Y513* |
probably null |
Het |
| Tmc6 |
A |
G |
11: 117,772,820 (GRCm38) |
V522A |
probably benign |
Het |
| Trim39 |
T |
A |
17: 36,269,164 (GRCm38) |
|
probably benign |
Het |
| Trrap |
G |
A |
5: 144,843,369 (GRCm38) |
|
probably null |
Het |
| Tulp3 |
C |
T |
6: 128,327,638 (GRCm38) |
V218I |
probably benign |
Het |
| Vmn1r38 |
T |
A |
6: 66,776,971 (GRCm38) |
I54F |
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,742,188 (GRCm38) |
Y833* |
probably null |
Het |
| Zfp810 |
A |
T |
9: 22,279,238 (GRCm38) |
S125T |
probably benign |
Het |
|
| Other mutations in Cfap206 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00797:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00798:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00826:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00919:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01062:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01064:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01069:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01070:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01086:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01087:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01090:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01098:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01111:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01133:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01135:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01147:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01152:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01153:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01154:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01155:Cfap206
|
APN |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01289:Cfap206
|
APN |
4 |
34,716,469 (GRCm38) |
missense |
probably null |
0.98 |
|
IGL01845:Cfap206
|
APN |
4 |
34,719,610 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
IGL02115:Cfap206
|
APN |
4 |
34,722,623 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
IGL03241:Cfap206
|
APN |
4 |
34,711,553 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03405:Cfap206
|
APN |
4 |
34,716,445 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
ANU05:Cfap206
|
UTSW |
4 |
34,721,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB001:Cfap206
|
UTSW |
4 |
34,728,833 (GRCm38) |
missense |
probably benign |
0.10 |
|
BB011:Cfap206
|
UTSW |
4 |
34,728,833 (GRCm38) |
missense |
probably benign |
0.10 |
|
R0012:Cfap206
|
UTSW |
4 |
34,714,519 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R0689:Cfap206
|
UTSW |
4 |
34,722,668 (GRCm38) |
missense |
probably benign |
0.23 |
|
R0730:Cfap206
|
UTSW |
4 |
34,711,391 (GRCm38) |
missense |
probably benign |
|
|
R1567:Cfap206
|
UTSW |
4 |
34,716,490 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1694:Cfap206
|
UTSW |
4 |
34,719,058 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1706:Cfap206
|
UTSW |
4 |
34,688,875 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1837:Cfap206
|
UTSW |
4 |
34,728,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1909:Cfap206
|
UTSW |
4 |
34,722,714 (GRCm38) |
missense |
probably benign |
|
|
R2098:Cfap206
|
UTSW |
4 |
34,719,053 (GRCm38) |
nonsense |
probably null |
|
|
R3125:Cfap206
|
UTSW |
4 |
34,716,310 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R3784:Cfap206
|
UTSW |
4 |
34,716,445 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5249:Cfap206
|
UTSW |
4 |
34,714,502 (GRCm38) |
missense |
probably benign |
|
|
R5483:Cfap206
|
UTSW |
4 |
34,711,404 (GRCm38) |
missense |
probably benign |
0.39 |
|
R5569:Cfap206
|
UTSW |
4 |
34,724,892 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6247:Cfap206
|
UTSW |
4 |
34,692,530 (GRCm38) |
missense |
probably benign |
|
|
R6555:Cfap206
|
UTSW |
4 |
34,719,049 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6791:Cfap206
|
UTSW |
4 |
34,711,414 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R6865:Cfap206
|
UTSW |
4 |
34,714,448 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R7164:Cfap206
|
UTSW |
4 |
34,719,656 (GRCm38) |
missense |
probably benign |
|
|
R7814:Cfap206
|
UTSW |
4 |
34,716,347 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7924:Cfap206
|
UTSW |
4 |
34,728,833 (GRCm38) |
missense |
probably benign |
0.10 |
|
R8092:Cfap206
|
UTSW |
4 |
34,728,897 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R8240:Cfap206
|
UTSW |
4 |
34,728,902 (GRCm38) |
start codon destroyed |
probably null |
1.00 |
|
R8323:Cfap206
|
UTSW |
4 |
34,719,647 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8969:Cfap206
|
UTSW |
4 |
34,692,522 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9144:Cfap206
|
UTSW |
4 |
34,722,667 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R9336:Cfap206
|
UTSW |
4 |
34,716,494 (GRCm38) |
missense |
probably benign |
|
|
Z1176:Cfap206
|
UTSW |
4 |
34,719,661 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGAGAATGCCATGTTTACCTG -3'
(R):5'- TGTGGCTTAATGGGTAAGAAGC -3'
Sequencing Primer
(F):5'- ATGCCATGTTTACCTGAGAATAGGG -3'
(R):5'- ACAGTCCTATAGCCTTTGCATAGGG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation