Incidental Mutation 'R8849:Cfap221'
ID |
674862 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap221
|
Ensembl Gene |
ENSMUSG00000036962 |
Gene Name |
cilia and flagella associated protein 221 |
Synonyms |
Pcdp1, Gm101 |
MMRRC Submission |
068672-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8849 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
119851071-119924964 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 119922874 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 23
(P23S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037703
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037840]
[ENSMUST00000174370]
[ENSMUST00000174458]
|
AlphaFold |
A9Q751 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037840
AA Change: P23S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000037703 Gene: ENSMUSG00000036962 AA Change: P23S
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: P23S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134576 Gene: ENSMUSG00000036962 AA Change: P23S
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: P23S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.1375 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630010A05Rik |
G |
A |
16: 14,439,376 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
T |
C |
13: 81,669,324 (GRCm39) |
T2411A |
probably benign |
Het |
Aldh5a1 |
T |
A |
13: 25,121,464 (GRCm39) |
T30S |
probably benign |
Het |
Alg1 |
G |
A |
16: 5,051,532 (GRCm39) |
A7T |
possibly damaging |
Het |
Ano10 |
T |
A |
9: 122,090,510 (GRCm39) |
M268L |
probably benign |
Het |
Avil |
T |
C |
10: 126,844,661 (GRCm39) |
V264A |
possibly damaging |
Het |
Bicc1 |
T |
A |
10: 70,782,694 (GRCm39) |
I558F |
probably benign |
Het |
Bst1 |
A |
T |
5: 43,977,927 (GRCm39) |
H92L |
possibly damaging |
Het |
C1s2 |
T |
C |
6: 124,602,754 (GRCm39) |
N486D |
probably benign |
Het |
Carmil3 |
A |
T |
14: 55,734,627 (GRCm39) |
H452L |
probably benign |
Het |
Ccser1 |
T |
A |
6: 61,288,537 (GRCm39) |
D233E |
probably benign |
Het |
Ceacam18 |
G |
T |
7: 43,294,967 (GRCm39) |
L342F |
probably benign |
Het |
Cep95 |
T |
A |
11: 106,707,630 (GRCm39) |
M691K |
|
Het |
Ciao2b |
C |
T |
8: 105,367,599 (GRCm39) |
|
probably null |
Het |
Col20a1 |
T |
C |
2: 180,640,432 (GRCm39) |
Y572H |
probably damaging |
Het |
Cr2 |
C |
T |
1: 194,839,547 (GRCm39) |
V627M |
probably damaging |
Het |
Cul2 |
T |
A |
18: 3,423,551 (GRCm39) |
H320Q |
probably benign |
Het |
Ddx5 |
A |
T |
11: 106,675,975 (GRCm39) |
V266E |
probably damaging |
Het |
Dgkd |
T |
C |
1: 87,846,365 (GRCm39) |
V336A |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,121,156 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
C |
A |
7: 105,370,723 (GRCm39) |
Q4668K |
probably benign |
Het |
Dock7 |
C |
T |
4: 98,904,986 (GRCm39) |
E630K |
|
Het |
Dolk |
T |
C |
2: 30,174,935 (GRCm39) |
E370G |
probably damaging |
Het |
Ercc6 |
T |
A |
14: 32,291,565 (GRCm39) |
L1003Q |
probably damaging |
Het |
Foxc1 |
T |
C |
13: 31,992,817 (GRCm39) |
S543P |
unknown |
Het |
Gbp2b |
A |
C |
3: 142,313,913 (GRCm39) |
M398L |
probably benign |
Het |
Gigyf2 |
G |
T |
1: 87,361,592 (GRCm39) |
R908L |
unknown |
Het |
Gpr176 |
T |
A |
2: 118,110,095 (GRCm39) |
E388V |
probably damaging |
Het |
Gpx8 |
C |
T |
13: 113,179,704 (GRCm39) |
G199E |
probably benign |
Het |
Gtf2a1l |
A |
G |
17: 89,001,566 (GRCm39) |
T141A |
possibly damaging |
Het |
Ifi208 |
G |
A |
1: 173,506,184 (GRCm39) |
|
probably benign |
Het |
Itgad |
T |
A |
7: 127,789,157 (GRCm39) |
|
probably benign |
Het |
Kif20b |
C |
T |
19: 34,915,716 (GRCm39) |
Q498* |
probably null |
Het |
Lmo7 |
T |
C |
14: 102,163,543 (GRCm39) |
Y1463H |
unknown |
Het |
Mms19 |
A |
T |
19: 41,952,767 (GRCm39) |
L114Q |
probably damaging |
Het |
Mogs |
T |
C |
6: 83,094,986 (GRCm39) |
V601A |
possibly damaging |
Het |
Mybpc1 |
T |
A |
10: 88,407,447 (GRCm39) |
M87L |
probably benign |
Het |
Nhlrc2 |
T |
C |
19: 56,580,184 (GRCm39) |
V439A |
possibly damaging |
Het |
Npc1l1 |
T |
A |
11: 6,179,038 (GRCm39) |
H124L |
probably damaging |
Het |
Opn4 |
A |
G |
14: 34,318,986 (GRCm39) |
W200R |
probably damaging |
Het |
Or2b2b |
T |
C |
13: 21,858,226 (GRCm39) |
E296G |
possibly damaging |
Het |
Pax2 |
T |
C |
19: 44,749,111 (GRCm39) |
|
probably benign |
Het |
Phf20 |
G |
T |
2: 156,118,440 (GRCm39) |
Q381H |
probably damaging |
Het |
Pramel25 |
A |
G |
4: 143,521,596 (GRCm39) |
N404S |
probably damaging |
Het |
Pramel32 |
T |
A |
4: 88,546,014 (GRCm39) |
T443S |
probably benign |
Het |
Pramel34 |
A |
T |
5: 93,784,197 (GRCm39) |
H422Q |
probably benign |
Het |
Rb1 |
C |
T |
14: 73,434,709 (GRCm39) |
R903Q |
probably damaging |
Het |
Scamp4 |
T |
A |
10: 80,445,266 (GRCm39) |
V37E |
probably damaging |
Het |
Sema3e |
T |
C |
5: 14,302,673 (GRCm39) |
W733R |
probably damaging |
Het |
Sertm1 |
A |
G |
3: 54,806,749 (GRCm39) |
V92A |
possibly damaging |
Het |
Slc4a5 |
T |
C |
6: 83,250,180 (GRCm39) |
F638L |
probably damaging |
Het |
Tprn |
T |
C |
2: 25,159,171 (GRCm39) |
S703P |
probably damaging |
Het |
Tulp4 |
T |
A |
17: 6,272,656 (GRCm39) |
M570K |
probably benign |
Het |
Zfp433 |
T |
C |
10: 81,556,875 (GRCm39) |
I459T |
probably benign |
Het |
Zfp697 |
A |
G |
3: 98,334,943 (GRCm39) |
E236G |
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 |
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 |
|
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'- GTGATACTGCTAAATCGGCAC -3'
(R):5'- ATGCAGTGTCCAGTAGATGAG -3'
Sequencing Primer
(F):5'- TGCTAAATCGGCACTCACAATC -3'
(R):5'- CAAGAGGTACATTTGTCAAAAGCTG -3'
|
Posted On |
2021-07-15 |