Incidental Mutation 'IGL01154:Cfap206'
| ID |
278227 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cfap206
|
| Ensembl Gene |
ENSMUSG00000028294 |
| Gene Name |
cilia and flagella associated protein 206 |
| Synonyms |
1700003M02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.235)
|
| Stock # |
IGL01154
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
34688559-34730206 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 34721562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 162
(S162N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029971]
[ENSMUST00000108136]
[ENSMUST00000137514]
[ENSMUST00000162495]
|
| AlphaFold |
Q6PE87 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029971
AA Change: S162N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029971
Gene: ENSMUSG00000028294
AA Change: S162N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3508
|
214 |
491 |
6.1e-108 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108136
AA Change: S162N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103771
Gene: ENSMUSG00000028294
AA Change: S162N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3508
|
213 |
493 |
3.8e-127 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135563
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137514
AA Change: S162N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160209
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162495
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| 2210408I21Rik |
T |
G |
13: 77,429,213 (GRCm39) |
F767V |
probably benign |
Het |
| A2m |
C |
A |
6: 121,650,501 (GRCm39) |
S1203* |
probably null |
Het |
| Abcc3 |
T |
C |
11: 94,250,058 (GRCm39) |
|
probably benign |
Het |
| Adamts13 |
T |
C |
2: 26,896,206 (GRCm39) |
Y1200H |
probably benign |
Het |
| Aldh1l2 |
T |
C |
10: 83,356,237 (GRCm39) |
D51G |
probably damaging |
Het |
| Apc2 |
A |
G |
10: 80,148,903 (GRCm39) |
E1319G |
possibly damaging |
Het |
| Arap3 |
A |
T |
18: 38,129,787 (GRCm39) |
S125T |
probably benign |
Het |
| Atp2b1 |
T |
A |
10: 98,832,750 (GRCm39) |
V417E |
probably damaging |
Het |
| Bpifa1 |
T |
A |
2: 153,985,920 (GRCm39) |
D78E |
probably benign |
Het |
| Catsperb |
C |
A |
12: 101,591,940 (GRCm39) |
A1090E |
possibly damaging |
Het |
| Ceacam9 |
C |
A |
7: 16,457,886 (GRCm39) |
T138K |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,412,530 (GRCm39) |
E244D |
probably benign |
Het |
| Cep135 |
A |
T |
5: 76,754,643 (GRCm39) |
|
probably benign |
Het |
| Col15a1 |
A |
C |
4: 47,208,450 (GRCm39) |
T6P |
possibly damaging |
Het |
| Cyp11b1 |
T |
A |
15: 74,710,383 (GRCm39) |
Q306L |
probably benign |
Het |
| Defa22 |
T |
A |
8: 21,653,053 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
T |
15: 28,458,802 (GRCm39) |
T4480S |
possibly damaging |
Het |
| Fastkd1 |
T |
C |
2: 69,520,404 (GRCm39) |
|
probably null |
Het |
| Flt1 |
A |
G |
5: 147,512,966 (GRCm39) |
Y1124H |
possibly damaging |
Het |
| Fsd1l |
A |
G |
4: 53,701,074 (GRCm39) |
M469V |
probably benign |
Het |
| Fxr2 |
T |
C |
11: 69,532,259 (GRCm39) |
|
probably benign |
Het |
| Gm10801 |
A |
T |
2: 98,494,328 (GRCm39) |
Y135F |
probably benign |
Het |
| Grm4 |
A |
T |
17: 27,653,711 (GRCm39) |
C699* |
probably null |
Het |
| Hcn4 |
A |
G |
9: 58,766,362 (GRCm39) |
T677A |
unknown |
Het |
| Igkv9-123 |
G |
T |
6: 67,931,518 (GRCm39) |
|
probably benign |
Het |
| Irf4 |
T |
A |
13: 30,941,404 (GRCm39) |
H253Q |
possibly damaging |
Het |
| Jakmip2 |
T |
C |
18: 43,723,744 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,489,397 (GRCm39) |
V1134A |
probably damaging |
Het |
| Limch1 |
G |
T |
5: 66,903,301 (GRCm39) |
E17* |
probably null |
Het |
| Nap1l1 |
T |
A |
10: 111,322,536 (GRCm39) |
N72K |
probably damaging |
Het |
| Or4x11 |
T |
C |
2: 89,867,812 (GRCm39) |
L183P |
probably damaging |
Het |
| Or51t4 |
T |
C |
7: 102,598,046 (GRCm39) |
S115P |
probably damaging |
Het |
| Otud6b |
A |
T |
4: 14,811,732 (GRCm39) |
Y304N |
probably damaging |
Het |
| Pdcd10 |
A |
C |
3: 75,448,540 (GRCm39) |
M8R |
probably damaging |
Het |
| Ppip5k1 |
T |
C |
2: 121,173,660 (GRCm39) |
T404A |
probably damaging |
Het |
| Ppp2r2d |
C |
T |
7: 138,483,940 (GRCm39) |
A197V |
probably benign |
Het |
| Psg25 |
C |
T |
7: 18,258,624 (GRCm39) |
D351N |
probably benign |
Het |
| Sbno1 |
A |
T |
5: 124,548,312 (GRCm39) |
I87N |
probably damaging |
Het |
| Stfa2l1 |
C |
T |
16: 35,980,307 (GRCm39) |
|
probably benign |
Het |
| Sugp2 |
T |
A |
8: 70,695,349 (GRCm39) |
D107E |
probably damaging |
Het |
| Syne1 |
G |
T |
10: 5,310,848 (GRCm39) |
F576L |
probably damaging |
Het |
| Syne3 |
A |
G |
12: 104,924,328 (GRCm39) |
F357S |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,932,371 (GRCm39) |
L1741P |
probably damaging |
Het |
| Tgs1 |
A |
T |
4: 3,585,473 (GRCm39) |
K117* |
probably null |
Het |
| Tram1 |
C |
T |
1: 13,649,673 (GRCm39) |
|
probably null |
Het |
| Trank1 |
T |
A |
9: 111,215,468 (GRCm39) |
D1799E |
probably benign |
Het |
| Ttc14 |
A |
T |
3: 33,857,248 (GRCm39) |
Y198F |
probably benign |
Het |
| Ube3b |
A |
G |
5: 114,544,313 (GRCm39) |
N570S |
probably null |
Het |
| Ube4b |
A |
G |
4: 149,449,927 (GRCm39) |
F412S |
probably benign |
Het |
| Vac14 |
T |
C |
8: 111,380,239 (GRCm39) |
|
probably benign |
Het |
| Vmn2r65 |
T |
C |
7: 84,592,729 (GRCm39) |
T493A |
probably benign |
Het |
| Zfp408 |
T |
C |
2: 91,478,351 (GRCm39) |
|
probably benign |
Het |
| Zfp580 |
C |
T |
7: 5,056,267 (GRCm39) |
T209I |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation