Incidental Mutation 'R9296:Cfap221'
ID |
704584 |
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 # |
R9296 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
119851071-119924964 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 119883467 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 235
(I235V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037703
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037840]
[ENSMUST00000174370]
|
AlphaFold |
A9Q751 |
Predicted Effect |
probably null
Transcript: ENSMUST00000037840
AA Change: I235V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000037703 Gene: ENSMUSG00000036962 AA Change: I235V
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: I235V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000134576 Gene: ENSMUSG00000036962 AA Change: I235V
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: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
98% (56/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Antxr1 |
T |
G |
6: 87,114,409 (GRCm39) |
|
probably benign |
Het |
Aox1 |
A |
T |
1: 58,124,612 (GRCm39) |
Y951F |
probably damaging |
Het |
Arhgap44 |
G |
T |
11: 64,957,933 (GRCm39) |
A83E |
probably damaging |
Het |
Bmpr2 |
T |
C |
1: 59,906,502 (GRCm39) |
S532P |
probably damaging |
Het |
Brd7 |
T |
C |
8: 89,059,560 (GRCm39) |
I617V |
possibly damaging |
Het |
Brsk2 |
A |
C |
7: 141,552,375 (GRCm39) |
S620R |
probably benign |
Het |
C3 |
T |
C |
17: 57,511,291 (GRCm39) |
M1604V |
probably benign |
Het |
Cacna2d1 |
G |
A |
5: 16,564,068 (GRCm39) |
R917H |
probably damaging |
Het |
Ccdc17 |
T |
A |
4: 116,456,586 (GRCm39) |
F452I |
probably damaging |
Het |
Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
Ciita |
G |
A |
16: 10,321,812 (GRCm39) |
|
probably null |
Het |
Cxcl10 |
T |
C |
5: 92,495,997 (GRCm39) |
K47E |
probably damaging |
Het |
Cyp2d12 |
C |
T |
15: 82,440,435 (GRCm39) |
Q75* |
probably null |
Het |
Cyp4f18 |
C |
T |
8: 72,756,301 (GRCm39) |
V92M |
probably benign |
Het |
D930020B18Rik |
A |
G |
10: 121,497,011 (GRCm39) |
R149G |
possibly damaging |
Het |
Dlgap4 |
G |
T |
2: 156,546,514 (GRCm39) |
R394L |
possibly damaging |
Het |
Dmtf1 |
A |
C |
5: 9,190,467 (GRCm39) |
D82E |
probably benign |
Het |
Dnah1 |
T |
C |
14: 30,996,011 (GRCm39) |
|
probably null |
Het |
Eps15 |
T |
G |
4: 109,173,089 (GRCm39) |
D183E |
possibly damaging |
Het |
Fbln5 |
A |
T |
12: 101,780,853 (GRCm39) |
I7K |
probably benign |
Het |
Fermt3 |
C |
T |
19: 6,980,865 (GRCm39) |
E289K |
possibly damaging |
Het |
Gm10762 |
T |
A |
2: 128,809,149 (GRCm39) |
R67W |
unknown |
Het |
Gm5089 |
A |
G |
14: 122,673,554 (GRCm39) |
S56P |
unknown |
Het |
H2-T5 |
C |
T |
17: 36,479,169 (GRCm39) |
G27R |
unknown |
Het |
Itih1 |
A |
G |
14: 30,653,251 (GRCm39) |
F730L |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,400,246 (GRCm39) |
H683R |
probably damaging |
Het |
Mapk3 |
T |
A |
7: 126,363,518 (GRCm39) |
F297L |
|
Het |
Mfap3l |
G |
A |
8: 61,124,615 (GRCm39) |
V286I |
possibly damaging |
Het |
Myh4 |
A |
G |
11: 67,146,130 (GRCm39) |
K1396R |
possibly damaging |
Het |
Mylk3 |
A |
T |
8: 86,085,561 (GRCm39) |
S324R |
probably benign |
Het |
Ndufv3 |
T |
C |
17: 31,739,197 (GRCm39) |
S4P |
probably benign |
Het |
Nebl |
A |
T |
2: 17,429,451 (GRCm39) |
|
probably benign |
Het |
Nol4 |
A |
T |
18: 22,956,388 (GRCm39) |
S119T |
|
Het |
Or6k4 |
A |
T |
1: 173,964,835 (GRCm39) |
H175L |
probably benign |
Het |
Pcdhgb4 |
T |
A |
18: 37,853,777 (GRCm39) |
S57R |
probably benign |
Het |
Pcyox1 |
A |
G |
6: 86,368,735 (GRCm39) |
L261P |
probably damaging |
Het |
Plekhm3 |
G |
T |
1: 64,961,639 (GRCm39) |
H206N |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,625,562 (GRCm39) |
T1863A |
probably benign |
Het |
Prl7c1 |
T |
A |
13: 27,962,812 (GRCm39) |
I64L |
probably benign |
Het |
Psg17 |
A |
T |
7: 18,553,991 (GRCm39) |
N86K |
probably benign |
Het |
Rab37 |
A |
G |
11: 115,045,065 (GRCm39) |
E14G |
probably benign |
Het |
Rad54l2 |
T |
A |
9: 106,579,942 (GRCm39) |
K976N |
probably damaging |
Het |
Rnf213 |
A |
T |
11: 119,334,621 (GRCm39) |
|
probably benign |
Het |
Sdha |
A |
T |
13: 74,472,062 (GRCm39) |
D602E |
probably damaging |
Het |
Slc22a30 |
T |
A |
19: 8,364,119 (GRCm39) |
T186S |
probably benign |
Het |
Slc22a4 |
A |
T |
11: 53,888,217 (GRCm39) |
C270* |
probably null |
Het |
Slc6a4 |
T |
C |
11: 76,909,110 (GRCm39) |
V374A |
probably benign |
Het |
Spg11 |
T |
C |
2: 121,945,175 (GRCm39) |
D115G |
probably benign |
Het |
Susd1 |
T |
C |
4: 59,427,865 (GRCm39) |
|
probably benign |
Het |
Tor1a |
A |
T |
2: 30,851,104 (GRCm39) |
M286K |
probably damaging |
Het |
Trim12c |
G |
T |
7: 103,994,185 (GRCm39) |
A223D |
|
Het |
Usp32 |
A |
G |
11: 84,908,478 (GRCm39) |
I1076T |
probably damaging |
Het |
Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
Vmn2r101 |
G |
A |
17: 19,810,047 (GRCm39) |
D278N |
probably damaging |
Het |
Zan |
C |
T |
5: 137,387,138 (GRCm39) |
V4972I |
unknown |
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 |
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'- ACTGGCAGAGTGTCAAGTCA -3'
(R):5'- CTTCTGGGCAGGGCATAGG -3'
Sequencing Primer
(F):5'- CAAGTCATCTTGGTTCCATAGTGAG -3'
(R):5'- GAACTGCGCCCTTGATCTGAAAG -3'
|
Posted On |
2022-03-25 |