Incidental Mutation 'R7109:Cfap221'
ID |
551372 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap221
|
Ensembl Gene |
ENSMUSG00000036962 |
Gene Name |
cilia and flagella associated protein 221 |
Synonyms |
Pcdp1, Gm101 |
MMRRC Submission |
045201-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7109 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
119851071-119924964 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 119853301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 798
(K798E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037703
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037840]
[ENSMUST00000174370]
|
AlphaFold |
A9Q751 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037840
AA Change: K798E
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000037703 Gene: ENSMUSG00000036962 AA Change: K798E
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: K798E
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000134576 Gene: ENSMUSG00000036962 AA Change: K798E
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
T |
G |
2: 151,315,673 (GRCm39) |
K2Q |
probably damaging |
Het |
Abtb2 |
T |
C |
2: 103,545,860 (GRCm39) |
Y903H |
probably benign |
Het |
Adamtsl3 |
C |
T |
7: 82,261,069 (GRCm39) |
P29S |
|
Het |
Alcam |
T |
A |
16: 52,097,192 (GRCm39) |
T355S |
probably damaging |
Het |
Anapc1 |
A |
G |
2: 128,516,522 (GRCm39) |
V404A |
probably benign |
Het |
Bst2 |
A |
G |
8: 71,989,926 (GRCm39) |
F49S |
possibly damaging |
Het |
C1qtnf9 |
G |
C |
14: 61,017,019 (GRCm39) |
W183S |
probably benign |
Het |
Camsap3 |
A |
G |
8: 3,648,087 (GRCm39) |
I132V |
possibly damaging |
Het |
Cchcr1 |
T |
A |
17: 35,828,838 (GRCm39) |
|
probably null |
Het |
Cenpk |
A |
G |
13: 104,367,256 (GRCm39) |
K31E |
probably benign |
Het |
Copb2 |
T |
A |
9: 98,463,333 (GRCm39) |
|
probably null |
Het |
Dennd1a |
T |
A |
2: 37,938,804 (GRCm39) |
Y102F |
probably damaging |
Het |
Eif2ak4 |
C |
T |
2: 118,235,532 (GRCm39) |
P88S |
probably damaging |
Het |
Epha6 |
C |
A |
16: 59,503,031 (GRCm39) |
V959F |
probably damaging |
Het |
Fam193a |
C |
A |
5: 34,623,165 (GRCm39) |
T1251K |
possibly damaging |
Het |
Herc1 |
A |
T |
9: 66,389,171 (GRCm39) |
Q3896L |
probably benign |
Het |
Ikbip |
C |
A |
10: 90,919,090 (GRCm39) |
D34E |
probably benign |
Het |
Insr |
A |
G |
8: 3,308,481 (GRCm39) |
V185A |
probably benign |
Het |
Jakmip1 |
C |
T |
5: 37,332,109 (GRCm39) |
Q930* |
probably null |
Het |
Klc1 |
A |
G |
12: 111,743,299 (GRCm39) |
I209V |
probably benign |
Het |
Lrrk2 |
T |
A |
15: 91,648,985 (GRCm39) |
L1660M |
probably damaging |
Het |
Mbd3l1 |
G |
T |
9: 18,396,210 (GRCm39) |
D112Y |
possibly damaging |
Het |
Mrps2 |
T |
A |
2: 28,358,258 (GRCm39) |
V16E |
probably benign |
Het |
Ncoa1 |
G |
A |
12: 4,372,978 (GRCm39) |
T141I |
possibly damaging |
Het |
Ndst2 |
G |
T |
14: 20,779,911 (GRCm39) |
R110S |
probably damaging |
Het |
Nlrp2 |
A |
G |
7: 5,331,616 (GRCm39) |
V260A |
probably damaging |
Het |
Or4d10 |
A |
G |
19: 12,051,576 (GRCm39) |
I140T |
probably benign |
Het |
Or51a6 |
A |
T |
7: 102,604,460 (GRCm39) |
V116E |
probably damaging |
Het |
Or5p1 |
A |
G |
7: 107,916,959 (GRCm39) |
N286S |
probably damaging |
Het |
Or7g16 |
A |
T |
9: 18,726,904 (GRCm39) |
S229T |
probably benign |
Het |
Pah |
T |
C |
10: 87,406,148 (GRCm39) |
V262A |
probably damaging |
Het |
Pcnt |
T |
G |
10: 76,205,738 (GRCm39) |
E2538A |
probably damaging |
Het |
Pdxk |
T |
A |
10: 78,282,810 (GRCm39) |
I162F |
probably damaging |
Het |
Plod2 |
T |
C |
9: 92,455,650 (GRCm39) |
F110L |
probably damaging |
Het |
Pm20d2 |
A |
T |
4: 33,187,186 (GRCm39) |
L154Q |
probably damaging |
Het |
Podxl2 |
C |
T |
6: 88,820,566 (GRCm39) |
V445I |
possibly damaging |
Het |
Ppp1r3a |
A |
T |
6: 14,719,235 (GRCm39) |
W560R |
probably benign |
Het |
Rasal3 |
A |
G |
17: 32,611,683 (GRCm39) |
S815P |
probably damaging |
Het |
Rdm1 |
A |
G |
11: 101,524,654 (GRCm39) |
K196E |
probably damaging |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Scn1a |
T |
C |
2: 66,181,286 (GRCm39) |
D79G |
possibly damaging |
Het |
Slc22a21 |
A |
G |
11: 53,870,329 (GRCm39) |
Y119H |
possibly damaging |
Het |
Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
Synrg |
C |
A |
11: 83,930,498 (GRCm39) |
A1280E |
possibly damaging |
Het |
Szt2 |
A |
G |
4: 118,232,676 (GRCm39) |
C2396R |
unknown |
Het |
Trappc3 |
A |
G |
4: 126,167,726 (GRCm39) |
N95S |
probably benign |
Het |
Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,113,681 (GRCm39) |
D633E |
probably benign |
Het |
Wasl |
G |
A |
6: 24,633,186 (GRCm39) |
P151S |
probably benign |
Het |
Wwp2 |
A |
G |
8: 108,209,988 (GRCm39) |
N122S |
probably benign |
Het |
Zfp51 |
A |
G |
17: 21,683,831 (GRCm39) |
R149G |
possibly damaging |
Het |
Zfp764 |
A |
G |
7: 127,003,887 (GRCm39) |
S415P |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTCAGTTTTGAAAGGTTTCCTTGC -3'
(R):5'- GGAGCCTGAAACCTGTGACC -3'
Sequencing Primer
(F):5'- TCCTTGCAAAAACATTTGAAGGAGG -3'
(R):5'- ATAAATATCTCCCCCAGCATTGTCGG -3'
|
Posted On |
2019-05-15 |