Incidental Mutation 'IGL01730:Cfap221'
| ID |
105445 |
| 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 # |
IGL01730
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
119851071-119924964 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119861841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 645
(S645P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037840]
[ENSMUST00000174370]
|
| AlphaFold |
A9Q751 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037840
AA Change: S645P
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000037703
Gene: ENSMUSG00000036962
AA Change: S645P
| 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 |
probably benign
Transcript: ENSMUST00000174370
AA Change: S645P
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000134576
Gene: ENSMUSG00000036962
AA Change: S645P
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1 |
A |
G |
5: 36,119,583 (GRCm39) |
E287G |
probably damaging |
Het |
| Bhmt |
A |
T |
13: 93,761,917 (GRCm39) |
V122E |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,147,302 (GRCm39) |
I585T |
probably damaging |
Het |
| Derl1 |
A |
T |
15: 57,755,543 (GRCm39) |
F50Y |
possibly damaging |
Het |
| Dhrs3 |
T |
C |
4: 144,646,042 (GRCm39) |
S117P |
probably damaging |
Het |
| E2f8 |
A |
T |
7: 48,527,682 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,154,894 (GRCm39) |
|
probably benign |
Het |
| Fbxo15 |
A |
G |
18: 84,982,299 (GRCm39) |
I250M |
probably benign |
Het |
| Ghr |
A |
T |
15: 3,350,066 (GRCm39) |
S371T |
probably damaging |
Het |
| Gm5884 |
A |
T |
6: 128,622,669 (GRCm39) |
|
noncoding transcript |
Het |
| Grhl2 |
T |
C |
15: 37,338,018 (GRCm39) |
V496A |
probably benign |
Het |
| Gsap |
A |
G |
5: 21,495,152 (GRCm39) |
|
probably benign |
Het |
| Irak3 |
T |
C |
10: 120,014,005 (GRCm39) |
D148G |
probably benign |
Het |
| Itga2 |
A |
T |
13: 114,990,947 (GRCm39) |
|
probably benign |
Het |
| Kif13b |
T |
C |
14: 64,987,810 (GRCm39) |
|
probably null |
Het |
| Kif20b |
A |
T |
19: 34,927,923 (GRCm39) |
K1022* |
probably null |
Het |
| Klhl17 |
G |
T |
4: 156,316,157 (GRCm39) |
S399* |
probably null |
Het |
| Lcp2 |
A |
T |
11: 34,000,943 (GRCm39) |
D42V |
possibly damaging |
Het |
| Lin7c |
G |
T |
2: 109,726,785 (GRCm39) |
G145* |
probably null |
Het |
| Lrba |
A |
G |
3: 86,648,731 (GRCm39) |
D2493G |
possibly damaging |
Het |
| Mobp |
A |
G |
9: 119,996,992 (GRCm39) |
D41G |
probably damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,372,640 (GRCm39) |
Q785* |
probably null |
Het |
| Myl6b |
T |
C |
10: 128,332,211 (GRCm39) |
Y85C |
possibly damaging |
Het |
| Nup133 |
G |
T |
8: 124,664,972 (GRCm39) |
H240N |
probably benign |
Het |
| Or5b12 |
A |
C |
19: 12,896,926 (GRCm39) |
F249C |
probably damaging |
Het |
| Plk4 |
T |
C |
3: 40,760,285 (GRCm39) |
S394P |
probably benign |
Het |
| Prepl |
A |
G |
17: 85,388,603 (GRCm39) |
Y167H |
possibly damaging |
Het |
| Prkab1 |
A |
G |
5: 116,159,551 (GRCm39) |
L105P |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,616,728 (GRCm39) |
I3897L |
possibly damaging |
Het |
| Sema3c |
A |
G |
5: 17,916,434 (GRCm39) |
S469G |
probably benign |
Het |
| Serpinb3c |
T |
A |
1: 107,200,914 (GRCm39) |
S168C |
probably damaging |
Het |
| Snapc4 |
A |
T |
2: 26,253,736 (GRCm39) |
|
probably null |
Het |
| Sorcs2 |
A |
T |
5: 36,205,153 (GRCm39) |
M528K |
probably damaging |
Het |
| Spink10 |
T |
A |
18: 62,784,816 (GRCm39) |
|
probably null |
Het |
| Tent5b |
A |
T |
4: 133,213,833 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
C |
A |
6: 12,554,980 (GRCm39) |
Q301H |
probably benign |
Het |
| Tmem135 |
A |
T |
7: 88,797,252 (GRCm39) |
F335I |
possibly damaging |
Het |
| Tshr |
A |
T |
12: 91,486,077 (GRCm39) |
D217V |
possibly damaging |
Het |
| Ttyh1 |
G |
A |
7: 4,128,720 (GRCm39) |
V206M |
possibly damaging |
Het |
| Tusc3 |
T |
G |
8: 39,617,880 (GRCm39) |
*348G |
probably null |
Het |
| Vmn2r76 |
G |
A |
7: 85,879,406 (GRCm39) |
T298I |
probably benign |
Het |
| Wdr47 |
T |
C |
3: 108,518,712 (GRCm39) |
F67L |
probably 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 |
|
IGL01340:Cfap221
|
APN |
1 |
119,881,350 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation