Incidental Mutation 'IGL01340:Cfap221'
| ID |
74796 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cfap221
|
| Ensembl Gene |
ENSMUSG00000036962 |
| Gene Name |
cilia and flagella associated protein 221 |
| Synonyms |
Pcdp1, Gm101 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01340
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
119851071-119924964 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119881350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 371
(I371F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037840]
[ENSMUST00000174370]
|
| AlphaFold |
A9Q751 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037840
AA Change: I371F
PolyPhen 2
Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000037703
Gene: ENSMUSG00000036962
AA Change: I371F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
292 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
468 |
N/A |
INTRINSIC |
|
low complexity region
|
614 |
626 |
N/A |
INTRINSIC |
|
low complexity region
|
754 |
771 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174370
AA Change: I371F
PolyPhen 2
Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000134576
Gene: ENSMUSG00000036962
AA Change: I371F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
292 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
468 |
N/A |
INTRINSIC |
|
low complexity region
|
614 |
626 |
N/A |
INTRINSIC |
|
low complexity region
|
754 |
771 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,021,453 (GRCm39) |
I1086L |
probably benign |
Het |
| Adam17 |
A |
T |
12: 21,380,058 (GRCm39) |
C630* |
probably null |
Het |
| Adgrg5 |
T |
C |
8: 95,664,257 (GRCm39) |
L289P |
probably damaging |
Het |
| Aplp1 |
G |
A |
7: 30,143,843 (GRCm39) |
T64I |
probably damaging |
Het |
| Bdh1 |
T |
A |
16: 31,275,661 (GRCm39) |
W261R |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,581,672 (GRCm39) |
I202N |
possibly damaging |
Het |
| Cd209c |
C |
T |
8: 3,995,892 (GRCm39) |
R6H |
probably benign |
Het |
| Cfap44 |
A |
G |
16: 44,224,493 (GRCm39) |
Y67C |
probably damaging |
Het |
| Cilp |
T |
C |
9: 65,183,256 (GRCm39) |
S387P |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,487,165 (GRCm39) |
D598G |
probably damaging |
Het |
| Col5a1 |
T |
C |
2: 27,850,463 (GRCm39) |
L520P |
unknown |
Het |
| Cpvl |
A |
T |
6: 53,873,436 (GRCm39) |
Y433* |
probably null |
Het |
| Cxcl1 |
G |
T |
5: 91,039,434 (GRCm39) |
C59F |
probably damaging |
Het |
| Cyth3 |
T |
A |
5: 143,670,190 (GRCm39) |
L33* |
probably null |
Het |
| Dnah2 |
T |
C |
11: 69,384,010 (GRCm39) |
K1069E |
probably damaging |
Het |
| Drosha |
T |
A |
15: 12,834,109 (GRCm39) |
|
probably benign |
Het |
| Fam83h |
T |
A |
15: 75,875,885 (GRCm39) |
D484V |
probably damaging |
Het |
| Igsf3 |
C |
A |
3: 101,346,995 (GRCm39) |
Y663* |
probably null |
Het |
| Kmt5c |
C |
T |
7: 4,745,140 (GRCm39) |
R44* |
probably null |
Het |
| Kxd1 |
T |
C |
8: 70,968,093 (GRCm39) |
|
probably null |
Het |
| Lars1 |
A |
G |
18: 42,335,642 (GRCm39) |
V1158A |
probably benign |
Het |
| Lmf2 |
A |
G |
15: 89,237,075 (GRCm39) |
F413S |
probably damaging |
Het |
| Mc4r |
C |
T |
18: 66,992,229 (GRCm39) |
A295T |
probably benign |
Het |
| Mrc1 |
T |
C |
2: 14,314,895 (GRCm39) |
|
probably null |
Het |
| Mtmr7 |
T |
C |
8: 41,050,465 (GRCm39) |
Y110C |
probably damaging |
Het |
| Myd88 |
A |
C |
9: 119,166,418 (GRCm39) |
|
probably benign |
Het |
| Ndc1 |
T |
C |
4: 107,231,344 (GRCm39) |
V95A |
probably damaging |
Het |
| Ntrk1 |
T |
A |
3: 87,696,021 (GRCm39) |
E163V |
possibly damaging |
Het |
| Or4p8 |
T |
C |
2: 88,727,321 (GRCm39) |
T207A |
probably damaging |
Het |
| Pappa |
A |
T |
4: 65,242,109 (GRCm39) |
D1491V |
possibly damaging |
Het |
| Phc3 |
T |
A |
3: 30,984,033 (GRCm39) |
I673F |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,593,201 (GRCm39) |
N1637K |
probably benign |
Het |
| Relb |
T |
C |
7: 19,350,298 (GRCm39) |
I218V |
probably benign |
Het |
| Rgma |
T |
C |
7: 73,067,078 (GRCm39) |
F111S |
probably damaging |
Het |
| Slco1a6 |
A |
T |
6: 142,055,109 (GRCm39) |
N278K |
possibly damaging |
Het |
| Slfn9 |
A |
T |
11: 82,872,577 (GRCm39) |
F720I |
probably benign |
Het |
| Snd1 |
T |
A |
6: 28,883,368 (GRCm39) |
V741E |
probably benign |
Het |
| Snx6 |
C |
T |
12: 54,801,094 (GRCm39) |
R185Q |
probably damaging |
Het |
| Spata31g1 |
A |
C |
4: 42,971,984 (GRCm39) |
E439A |
possibly damaging |
Het |
| Telo2 |
G |
A |
17: 25,319,103 (GRCm39) |
|
probably benign |
Het |
| Wdr91 |
A |
G |
6: 34,881,514 (GRCm39) |
S278P |
probably benign |
Het |
| Xab2 |
A |
T |
8: 3,664,381 (GRCm39) |
D277E |
probably damaging |
Het |
| Zbbx |
T |
C |
3: 75,012,957 (GRCm39) |
E158G |
possibly damaging |
Het |
|
| Other mutations in Cfap221 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Cfap221
|
APN |
1 |
119,860,575 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL00954:Cfap221
|
APN |
1 |
119,861,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01413:Cfap221
|
APN |
1 |
119,912,801 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01418:Cfap221
|
APN |
1 |
119,912,801 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01730:Cfap221
|
APN |
1 |
119,861,841 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01931:Cfap221
|
APN |
1 |
119,860,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02936:Cfap221
|
APN |
1 |
119,912,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03309:Cfap221
|
APN |
1 |
119,862,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Ningxia
|
UTSW |
1 |
119,881,389 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0365:Cfap221
|
UTSW |
1 |
119,912,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0396:Cfap221
|
UTSW |
1 |
119,881,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1505:Cfap221
|
UTSW |
1 |
119,881,358 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1740:Cfap221
|
UTSW |
1 |
119,873,558 (GRCm39) |
missense |
probably benign |
|
|
R1873:Cfap221
|
UTSW |
1 |
119,881,389 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1875:Cfap221
|
UTSW |
1 |
119,881,389 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2205:Cfap221
|
UTSW |
1 |
119,863,834 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3885:Cfap221
|
UTSW |
1 |
119,881,876 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4290:Cfap221
|
UTSW |
1 |
119,858,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4856:Cfap221
|
UTSW |
1 |
119,912,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4856:Cfap221
|
UTSW |
1 |
119,861,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4886:Cfap221
|
UTSW |
1 |
119,912,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4886:Cfap221
|
UTSW |
1 |
119,861,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4890:Cfap221
|
UTSW |
1 |
119,883,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5623:Cfap221
|
UTSW |
1 |
119,881,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5644:Cfap221
|
UTSW |
1 |
119,860,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5758:Cfap221
|
UTSW |
1 |
119,862,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5959:Cfap221
|
UTSW |
1 |
119,860,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6145:Cfap221
|
UTSW |
1 |
119,912,546 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6186:Cfap221
|
UTSW |
1 |
119,862,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6431:Cfap221
|
UTSW |
1 |
119,860,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6700:Cfap221
|
UTSW |
1 |
119,883,421 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7109:Cfap221
|
UTSW |
1 |
119,853,301 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7166:Cfap221
|
UTSW |
1 |
119,875,843 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7273:Cfap221
|
UTSW |
1 |
119,881,948 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7343:Cfap221
|
UTSW |
1 |
119,922,828 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7486:Cfap221
|
UTSW |
1 |
119,851,322 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7698:Cfap221
|
UTSW |
1 |
119,889,659 (GRCm39) |
nonsense |
probably null |
|
|
R8293:Cfap221
|
UTSW |
1 |
119,909,504 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8389:Cfap221
|
UTSW |
1 |
119,851,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8510:Cfap221
|
UTSW |
1 |
119,917,177 (GRCm39) |
nonsense |
probably null |
|
|
R8849:Cfap221
|
UTSW |
1 |
119,922,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9093:Cfap221
|
UTSW |
1 |
119,863,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9290:Cfap221
|
UTSW |
1 |
119,853,381 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9296:Cfap221
|
UTSW |
1 |
119,883,467 (GRCm39) |
missense |
probably null |
0.01 |
|
R9302:Cfap221
|
UTSW |
1 |
119,853,365 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9402:Cfap221
|
UTSW |
1 |
119,860,551 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9453:Cfap221
|
UTSW |
1 |
119,853,361 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9572:Cfap221
|
UTSW |
1 |
119,873,566 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9708:Cfap221
|
UTSW |
1 |
119,860,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9725:Cfap221
|
UTSW |
1 |
119,862,352 (GRCm39) |
missense |
probably benign |
0.25 |
|
X0017:Cfap221
|
UTSW |
1 |
119,889,719 (GRCm39) |
splice site |
probably null |
|
|
Z1176:Cfap221
|
UTSW |
1 |
119,922,871 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Cfap221
|
UTSW |
1 |
119,912,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation