Incidental Mutation 'R6186:Cfap221'
ID |
502150 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap221
|
Ensembl Gene |
ENSMUSG00000036962 |
Gene Name |
cilia and flagella associated protein 221 |
Synonyms |
Pcdp1, Gm101 |
MMRRC Submission |
044326-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6186 (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 A
at 119862340 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 581
(I581F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134576
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037840]
[ENSMUST00000174370]
|
AlphaFold |
A9Q751 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037840
AA Change: I581F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000037703 Gene: ENSMUSG00000036962 AA Change: I581F
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: I581F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134576 Gene: ENSMUSG00000036962 AA Change: I581F
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: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
A |
G |
10: 10,298,502 (GRCm39) |
S409P |
probably damaging |
Het |
Adgrg5 |
T |
C |
8: 95,660,652 (GRCm39) |
V93A |
possibly damaging |
Het |
Akap8l |
C |
T |
17: 32,552,018 (GRCm39) |
V420I |
probably benign |
Het |
Ankrd36 |
T |
G |
11: 5,593,812 (GRCm39) |
D472E |
possibly damaging |
Het |
Apbb1 |
T |
C |
7: 105,216,933 (GRCm39) |
E250G |
probably damaging |
Het |
Cacna2d4 |
G |
A |
6: 119,258,650 (GRCm39) |
E579K |
possibly damaging |
Het |
Capn7 |
G |
T |
14: 31,092,875 (GRCm39) |
G780W |
probably damaging |
Het |
Celsr1 |
T |
C |
15: 85,805,394 (GRCm39) |
E2419G |
possibly damaging |
Het |
Cep164 |
A |
T |
9: 45,705,407 (GRCm39) |
S363R |
probably damaging |
Het |
Cog2 |
C |
A |
8: 125,273,425 (GRCm39) |
T588N |
probably damaging |
Het |
Cyp2a5 |
T |
C |
7: 26,542,813 (GRCm39) |
|
probably benign |
Het |
Cyp2j6 |
G |
C |
4: 96,424,323 (GRCm39) |
L145V |
probably damaging |
Het |
Evx1 |
T |
C |
6: 52,291,203 (GRCm39) |
|
probably null |
Het |
Fam186a |
T |
C |
15: 99,845,206 (GRCm39) |
H346R |
unknown |
Het |
Fam53b |
T |
A |
7: 132,317,445 (GRCm39) |
D399V |
possibly damaging |
Het |
Fcho2 |
T |
A |
13: 98,951,591 (GRCm39) |
N9I |
probably benign |
Het |
Fjx1 |
T |
C |
2: 102,281,152 (GRCm39) |
E261G |
probably benign |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Fkbpl |
T |
C |
17: 34,865,153 (GRCm39) |
F307S |
probably benign |
Het |
Fn1 |
A |
G |
1: 71,676,449 (GRCm39) |
I594T |
probably damaging |
Het |
Inpp4b |
T |
A |
8: 82,772,863 (GRCm39) |
V719E |
probably damaging |
Het |
Ldlr |
C |
T |
9: 21,635,055 (GRCm39) |
|
probably benign |
Het |
Macf1 |
A |
G |
4: 123,377,968 (GRCm39) |
V1419A |
probably damaging |
Het |
Mapkap1 |
A |
G |
2: 34,453,126 (GRCm39) |
T340A |
possibly damaging |
Het |
Mark2 |
A |
G |
19: 7,260,567 (GRCm39) |
V403A |
probably benign |
Het |
Mast3 |
T |
C |
8: 71,238,127 (GRCm39) |
T521A |
probably damaging |
Het |
Mrtfa |
T |
C |
15: 80,900,853 (GRCm39) |
K546R |
probably damaging |
Het |
Myo1h |
C |
T |
5: 114,457,864 (GRCm39) |
T125I |
possibly damaging |
Het |
Ndufa8 |
A |
G |
2: 35,929,752 (GRCm39) |
V118A |
probably benign |
Het |
Nphs1 |
A |
G |
7: 30,165,059 (GRCm39) |
T551A |
probably damaging |
Het |
Or2k2 |
T |
C |
4: 58,784,948 (GRCm39) |
Y258C |
probably damaging |
Het |
Or4k15c |
T |
A |
14: 50,321,982 (GRCm39) |
D52V |
probably damaging |
Het |
Pcm1 |
T |
C |
8: 41,746,830 (GRCm39) |
L1343P |
probably benign |
Het |
Pdcd1 |
T |
A |
1: 93,967,846 (GRCm39) |
R202* |
probably null |
Het |
Pramel52-ps |
T |
A |
5: 94,531,835 (GRCm39) |
Y240N |
probably benign |
Het |
Prkab2 |
A |
G |
3: 97,571,307 (GRCm39) |
|
probably null |
Het |
Ptdss2 |
T |
C |
7: 140,734,862 (GRCm39) |
|
probably benign |
Het |
Rap1b |
G |
T |
10: 117,656,457 (GRCm39) |
F78L |
probably damaging |
Het |
Rbl2 |
C |
T |
8: 91,833,358 (GRCm39) |
T711I |
probably damaging |
Het |
Rhobtb2 |
A |
G |
14: 70,035,693 (GRCm39) |
I126T |
probably damaging |
Het |
Rimoc1 |
C |
A |
15: 4,015,851 (GRCm39) |
D238Y |
possibly damaging |
Het |
Rnf123 |
A |
C |
9: 107,947,157 (GRCm39) |
S210A |
possibly damaging |
Het |
Shank1 |
T |
A |
7: 44,001,990 (GRCm39) |
F1228L |
probably benign |
Het |
Spata31f3 |
T |
C |
4: 42,872,000 (GRCm39) |
K125R |
possibly damaging |
Het |
Sumo1 |
C |
A |
1: 59,683,729 (GRCm39) |
V38L |
probably benign |
Het |
Sycp2 |
C |
T |
2: 178,025,353 (GRCm39) |
S363N |
probably damaging |
Het |
Tbx2 |
G |
T |
11: 85,728,672 (GRCm39) |
E352* |
probably null |
Het |
Timm44 |
T |
C |
8: 4,316,824 (GRCm39) |
N270D |
probably damaging |
Het |
Topaz1 |
A |
T |
9: 122,577,891 (GRCm39) |
Q267L |
probably benign |
Het |
Trp63 |
T |
C |
16: 25,695,483 (GRCm39) |
|
probably benign |
Het |
Ushbp1 |
T |
A |
8: 71,843,647 (GRCm39) |
T264S |
possibly damaging |
Het |
Vav3 |
A |
G |
3: 109,423,383 (GRCm39) |
Y334C |
probably damaging |
Het |
Wdr36 |
G |
C |
18: 32,985,954 (GRCm39) |
A553P |
probably benign |
Het |
Zfhx2 |
A |
T |
14: 55,300,617 (GRCm39) |
I2378K |
probably damaging |
Het |
Zfp276 |
T |
A |
8: 123,982,672 (GRCm39) |
Y145* |
probably null |
Het |
Zfp458 |
T |
C |
13: 67,405,701 (GRCm39) |
E246G |
probably damaging |
Het |
Zfp526 |
A |
G |
7: 24,925,561 (GRCm39) |
T607A |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GACTTCATCCTGTGTAAAGGTCAA -3'
(R):5'- GATTCTTGTGGGCCATTTCCTT -3'
Sequencing Primer
(F):5'- TACCACATGGATGGTGGGACTC -3'
(R):5'- AGTCTAGCTTGAACATCCGG -3'
|
Posted On |
2018-02-27 |