Incidental Mutation 'IGL02936:Cfap221'
| ID |
364324 |
| 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 # |
IGL02936
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
119851071-119924964 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119912482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 135
(D135G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037840]
[ENSMUST00000174370]
[ENSMUST00000174458]
|
| AlphaFold |
A9Q751 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037840
AA Change: D135G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037703
Gene: ENSMUSG00000036962
AA Change: D135G
| 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 damaging
Transcript: ENSMUST00000174370
AA Change: D135G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134576
Gene: ENSMUSG00000036962
AA Change: D135G
| 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 damaging
Transcript: ENSMUST00000174458
AA Change: D135G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174509
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
G |
A |
9: 57,165,687 (GRCm39) |
T229I |
possibly damaging |
Het |
| Acad11 |
T |
C |
9: 103,990,711 (GRCm39) |
S439P |
probably benign |
Het |
| Acer2 |
A |
T |
4: 86,818,796 (GRCm39) |
N148I |
possibly damaging |
Het |
| Adgre1 |
A |
G |
17: 57,785,833 (GRCm39) |
I860V |
probably benign |
Het |
| Asb2 |
A |
G |
12: 103,302,173 (GRCm39) |
I125T |
probably benign |
Het |
| Atp13a2 |
G |
T |
4: 140,729,260 (GRCm39) |
L614F |
probably benign |
Het |
| Car7 |
A |
G |
8: 105,274,854 (GRCm39) |
T132A |
possibly damaging |
Het |
| Crtc3 |
A |
G |
7: 80,239,511 (GRCm39) |
F614L |
probably damaging |
Het |
| Csn3 |
T |
G |
5: 88,077,992 (GRCm39) |
I166S |
possibly damaging |
Het |
| Dna2 |
T |
G |
10: 62,792,879 (GRCm39) |
L298R |
probably damaging |
Het |
| Ece1 |
T |
C |
4: 137,673,612 (GRCm39) |
S387P |
probably benign |
Het |
| Fbxo28 |
C |
T |
1: 182,169,093 (GRCm39) |
G15D |
unknown |
Het |
| Fbxw24 |
A |
T |
9: 109,454,026 (GRCm39) |
|
probably null |
Het |
| Foxd3 |
T |
A |
4: 99,545,052 (GRCm39) |
V64E |
probably benign |
Het |
| Galnt7 |
A |
C |
8: 58,037,248 (GRCm39) |
V47G |
probably benign |
Het |
| Gcc2 |
A |
T |
10: 58,131,962 (GRCm39) |
L1453F |
probably damaging |
Het |
| Gcnt4 |
G |
A |
13: 97,082,919 (GRCm39) |
V72I |
probably benign |
Het |
| Gm10269 |
A |
C |
18: 20,816,010 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
T |
G |
1: 150,573,273 (GRCm39) |
Q2125H |
probably damaging |
Het |
| Iho1 |
T |
C |
9: 108,289,702 (GRCm39) |
I173M |
possibly damaging |
Het |
| Llcfc1 |
T |
A |
6: 41,661,593 (GRCm39) |
S48T |
probably benign |
Het |
| Met |
G |
T |
6: 17,553,396 (GRCm39) |
V1061F |
probably damaging |
Het |
| Mthfd2 |
G |
A |
6: 83,288,342 (GRCm39) |
H138Y |
probably damaging |
Het |
| Mtus1 |
A |
T |
8: 41,452,554 (GRCm39) |
D1041E |
possibly damaging |
Het |
| Mug2 |
G |
A |
6: 122,058,346 (GRCm39) |
|
probably null |
Het |
| Nos3 |
C |
T |
5: 24,585,991 (GRCm39) |
T878I |
probably damaging |
Het |
| Or4c15 |
A |
G |
2: 88,760,128 (GRCm39) |
M177T |
probably benign |
Het |
| Or52b1 |
A |
T |
7: 104,979,212 (GRCm39) |
Y62* |
probably null |
Het |
| Pbrm1 |
T |
A |
14: 30,783,470 (GRCm39) |
V497D |
probably damaging |
Het |
| Plcd1 |
T |
C |
9: 118,903,267 (GRCm39) |
E471G |
probably damaging |
Het |
| Poc1a |
A |
G |
9: 106,162,226 (GRCm39) |
T84A |
probably damaging |
Het |
| Ppm1f |
A |
G |
16: 16,733,100 (GRCm39) |
H209R |
probably damaging |
Het |
| Rccd1 |
T |
A |
7: 79,966,794 (GRCm39) |
K329N |
probably damaging |
Het |
| Serpinb9g |
A |
T |
13: 33,678,865 (GRCm39) |
N245I |
possibly damaging |
Het |
| Slc22a26 |
A |
C |
19: 7,768,470 (GRCm39) |
F196V |
probably damaging |
Het |
| Tial1 |
G |
A |
7: 128,044,387 (GRCm39) |
|
probably benign |
Het |
| Trpa1 |
A |
T |
1: 14,946,193 (GRCm39) |
|
probably null |
Het |
| Vmn1r15 |
A |
T |
6: 57,235,803 (GRCm39) |
K224* |
probably null |
Het |
| Wdr72 |
A |
T |
9: 74,059,862 (GRCm39) |
D424V |
probably damaging |
Het |
| Wt1 |
A |
G |
2: 104,999,384 (GRCm39) |
K308E |
probably damaging |
Het |
| Zwint |
T |
C |
10: 72,492,956 (GRCm39) |
S193P |
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 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation