Incidental Mutation 'R9725:Cfap221'
| ID |
730970 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap221
|
| Ensembl Gene |
ENSMUSG00000036962 |
| Gene Name |
cilia and flagella associated protein 221 |
| Synonyms |
Pcdp1, Gm101 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9725 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
119851071-119924964 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 119862352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 577
(Q577K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037840]
[ENSMUST00000174370]
|
| AlphaFold |
A9Q751 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037840
AA Change: Q577K
PolyPhen 2
Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000037703
Gene: ENSMUSG00000036962
AA Change: Q577K
| 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: Q577K
PolyPhen 2
Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000134576
Gene: ENSMUSG00000036962
AA Change: Q577K
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
G |
16: 14,290,797 (GRCm39) |
I1469S |
possibly damaging |
Het |
| Aff1 |
A |
T |
5: 103,994,931 (GRCm39) |
D1043V |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,991,607 (GRCm39) |
I4297N |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,981,533 (GRCm39) |
N939S |
probably benign |
Het |
| Camk2b |
T |
C |
11: 5,922,634 (GRCm39) |
N465S |
possibly damaging |
Het |
| Carns1 |
A |
G |
19: 4,216,548 (GRCm39) |
S545P |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,432,561 (GRCm39) |
Q121L |
probably benign |
Het |
| Dlg1 |
T |
G |
16: 31,665,683 (GRCm39) |
L680R |
probably benign |
Het |
| Fahd2a |
T |
C |
2: 127,278,304 (GRCm39) |
E301G |
probably benign |
Het |
| Fn3k |
T |
A |
11: 121,341,191 (GRCm39) |
L282H |
probably damaging |
Het |
| Fubp1 |
T |
A |
3: 151,927,823 (GRCm39) |
I424N |
probably damaging |
Het |
| Gkn1 |
A |
G |
6: 87,323,289 (GRCm39) |
S175P |
probably damaging |
Het |
| Gm12695 |
A |
G |
4: 96,616,466 (GRCm39) |
S456P |
probably damaging |
Het |
| Kcna5 |
T |
C |
6: 126,511,844 (GRCm39) |
T95A |
probably benign |
Het |
| Kcnj13 |
G |
T |
1: 87,314,737 (GRCm39) |
T83K |
probably benign |
Het |
| Kif19b |
G |
A |
5: 140,460,651 (GRCm39) |
R439H |
probably benign |
Het |
| Klra10 |
C |
T |
6: 130,252,849 (GRCm39) |
G142R |
probably benign |
Het |
| Krt14 |
T |
C |
11: 100,097,902 (GRCm39) |
N127S |
probably damaging |
Het |
| Layn |
T |
C |
9: 50,968,775 (GRCm39) |
M323V |
probably benign |
Het |
| Lrrd1 |
A |
G |
5: 3,901,147 (GRCm39) |
D484G |
probably benign |
Het |
| Lrrtm2 |
A |
G |
18: 35,345,788 (GRCm39) |
C505R |
probably damaging |
Het |
| Ms4a14 |
A |
T |
19: 11,280,729 (GRCm39) |
S610T |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,856,841 (GRCm39) |
N1282S |
probably benign |
Het |
| Naip5 |
A |
T |
13: 100,358,784 (GRCm39) |
D817E |
possibly damaging |
Het |
| Ndufs2 |
A |
G |
1: 171,074,629 (GRCm39) |
L10P |
possibly damaging |
Het |
| Nxn |
T |
C |
11: 76,169,362 (GRCm39) |
D139G |
probably damaging |
Het |
| Or3a1b |
A |
G |
11: 74,012,612 (GRCm39) |
T166A |
probably benign |
Het |
| Or5b105 |
G |
A |
19: 13,080,272 (GRCm39) |
T132I |
possibly damaging |
Het |
| Or6aa1 |
A |
C |
7: 86,043,973 (GRCm39) |
H244Q |
probably damaging |
Het |
| Pcdhb22 |
G |
T |
18: 37,652,794 (GRCm39) |
V164F |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,084,992 (GRCm39) |
T417A |
probably damaging |
Het |
| Prcp |
G |
T |
7: 92,567,035 (GRCm39) |
|
probably null |
Het |
| Rasgrp2 |
A |
G |
19: 6,454,694 (GRCm39) |
Y178C |
probably damaging |
Het |
| Rasgrp2 |
A |
G |
19: 6,463,907 (GRCm39) |
N535S |
probably benign |
Het |
| Rgs20 |
G |
T |
1: 4,980,793 (GRCm39) |
Y208* |
probably null |
Het |
| Slc39a10 |
A |
G |
1: 46,849,223 (GRCm39) |
C798R |
probably damaging |
Het |
| Slco2b1 |
A |
G |
7: 99,335,265 (GRCm39) |
S172P |
probably benign |
Het |
| Styk1 |
GTCTCTTCATGATT |
GT |
6: 131,278,610 (GRCm39) |
|
probably benign |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Tmc2 |
T |
A |
2: 130,089,881 (GRCm39) |
I622N |
probably damaging |
Het |
| Trav16n |
A |
G |
14: 53,588,559 (GRCm39) |
S5G |
probably benign |
Het |
| Tti1 |
C |
T |
2: 157,849,304 (GRCm39) |
R645H |
probably benign |
Het |
| Ttll3 |
A |
G |
6: 113,386,114 (GRCm39) |
D649G |
probably damaging |
Het |
| Vcam1 |
C |
T |
3: 115,922,287 (GRCm39) |
V79I |
possibly damaging |
Het |
| Vmn1r211 |
T |
C |
13: 23,036,506 (GRCm39) |
I54V |
probably benign |
Het |
| Vmn1r238 |
A |
G |
18: 3,122,577 (GRCm39) |
F279S |
probably benign |
Het |
| Vps33a |
A |
T |
5: 123,669,135 (GRCm39) |
W589R |
possibly damaging |
Het |
| Zic1 |
A |
G |
9: 91,246,875 (GRCm39) |
S66P |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGACCTGTTAGTCTTGATGGC -3'
(R):5'- CCAAACAGTAGTGGATTCTTGTG -3'
Sequencing Primer
(F):5'- CAGGCCATGAGTAATGAGAACAGTTC -3'
(R):5'- AGTCTAGCTTGAACATCCGG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation