Incidental Mutation 'IGL01803:Cfap100'
ID |
155570 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cfap100
|
Ensembl Gene |
ENSMUSG00000048794 |
Gene Name |
cilia and flagella associated protein 100 |
Synonyms |
Ccdc37, C230069K22Rik, C030041G11Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
IGL01803
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
90380461-90405779 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 90392717 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 131
(R131L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126515
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062750]
[ENSMUST00000153843]
[ENSMUST00000165673]
|
AlphaFold |
Q80VN0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000062750
|
SMART Domains |
Protein: ENSMUSP00000059976 Gene: ENSMUSG00000048794
Domain | Start | End | E-Value | Type |
Pfam:DUF4200
|
1 |
127 |
5.4e-26 |
PFAM |
coiled coil region
|
242 |
282 |
N/A |
INTRINSIC |
low complexity region
|
289 |
309 |
N/A |
INTRINSIC |
coiled coil region
|
374 |
427 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153843
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165673
AA Change: R131L
PolyPhen 2
Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000126515 Gene: ENSMUSG00000048794 AA Change: R131L
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
low complexity region
|
108 |
120 |
N/A |
INTRINSIC |
Pfam:DUF4200
|
154 |
272 |
1.2e-35 |
PFAM |
coiled coil region
|
396 |
436 |
N/A |
INTRINSIC |
low complexity region
|
443 |
463 |
N/A |
INTRINSIC |
coiled coil region
|
528 |
581 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
T |
A |
18: 59,085,541 (GRCm39) |
L532Q |
probably damaging |
Het |
Bod1l |
A |
T |
5: 41,974,732 (GRCm39) |
V2194D |
probably damaging |
Het |
Cenpf |
G |
A |
1: 189,386,968 (GRCm39) |
Q1771* |
probably null |
Het |
Coch |
A |
T |
12: 51,650,082 (GRCm39) |
Q357L |
probably benign |
Het |
Col14a1 |
A |
G |
15: 55,282,210 (GRCm39) |
T824A |
unknown |
Het |
Dnah9 |
T |
C |
11: 66,009,655 (GRCm39) |
Y744C |
probably damaging |
Het |
Dusp13b |
A |
G |
14: 21,783,907 (GRCm39) |
V201A |
probably damaging |
Het |
Egf |
T |
A |
3: 129,530,415 (GRCm39) |
H249L |
probably benign |
Het |
Elmod1 |
G |
A |
9: 53,838,764 (GRCm39) |
P132L |
probably benign |
Het |
Eps8l2 |
T |
C |
7: 140,938,143 (GRCm39) |
V459A |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,192,207 (GRCm39) |
D1434G |
probably damaging |
Het |
Fbn1 |
G |
A |
2: 125,143,645 (GRCm39) |
T2828I |
probably benign |
Het |
Gbp9 |
C |
T |
5: 105,242,039 (GRCm39) |
D173N |
probably damaging |
Het |
Gbp9 |
T |
C |
5: 105,232,884 (GRCm39) |
D256G |
probably damaging |
Het |
Gpsm1 |
G |
A |
2: 26,236,921 (GRCm39) |
A580T |
probably damaging |
Het |
Hnrnpf |
T |
C |
6: 117,884,094 (GRCm39) |
|
probably benign |
Het |
Krt33a |
T |
C |
11: 99,902,843 (GRCm39) |
E327G |
probably benign |
Het |
M1ap |
T |
A |
6: 82,982,565 (GRCm39) |
I283K |
probably benign |
Het |
Mars2 |
A |
G |
1: 55,277,155 (GRCm39) |
S253G |
probably damaging |
Het |
Myh6 |
A |
T |
14: 55,182,000 (GRCm39) |
M1767K |
probably damaging |
Het |
Myo3a |
T |
A |
2: 22,245,926 (GRCm39) |
D16E |
probably damaging |
Het |
Pitrm1 |
T |
A |
13: 6,629,471 (GRCm39) |
Y978N |
probably benign |
Het |
Plekha6 |
G |
T |
1: 133,200,152 (GRCm39) |
E66* |
probably null |
Het |
Polk |
C |
T |
13: 96,641,030 (GRCm39) |
V176M |
probably damaging |
Het |
Pom121 |
G |
T |
5: 135,410,463 (GRCm39) |
|
probably benign |
Het |
Rnf213 |
T |
A |
11: 119,332,133 (GRCm39) |
D2447E |
probably damaging |
Het |
Sall3 |
T |
C |
18: 81,013,047 (GRCm39) |
M1130V |
possibly damaging |
Het |
Scn3a |
A |
G |
2: 65,352,127 (GRCm39) |
|
probably benign |
Het |
Sel1l |
A |
T |
12: 91,797,504 (GRCm39) |
M241K |
probably benign |
Het |
Septin4 |
G |
A |
11: 87,459,075 (GRCm39) |
S483N |
probably benign |
Het |
Ssh2 |
T |
G |
11: 77,316,156 (GRCm39) |
L259R |
probably damaging |
Het |
Tnr |
G |
T |
1: 159,695,813 (GRCm39) |
G579W |
probably damaging |
Het |
Vmn1r85 |
G |
T |
7: 12,818,496 (GRCm39) |
A216D |
probably damaging |
Het |
Vmn2r83 |
C |
A |
10: 79,304,894 (GRCm39) |
H35N |
probably benign |
Het |
Zar1l |
T |
A |
5: 150,441,569 (GRCm39) |
Y19F |
probably benign |
Het |
|
Other mutations in Cfap100 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00965:Cfap100
|
APN |
6 |
90,392,787 (GRCm39) |
missense |
probably benign |
0.36 |
IGL01067:Cfap100
|
APN |
6 |
90,383,096 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01347:Cfap100
|
APN |
6 |
90,383,103 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL01910:Cfap100
|
APN |
6 |
90,386,606 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02086:Cfap100
|
APN |
6 |
90,390,954 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02680:Cfap100
|
APN |
6 |
90,389,217 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03046:Cfap100
|
APN |
6 |
90,389,332 (GRCm39) |
splice site |
probably null |
|
R0391:Cfap100
|
UTSW |
6 |
90,382,321 (GRCm39) |
splice site |
probably benign |
|
R0883:Cfap100
|
UTSW |
6 |
90,392,888 (GRCm39) |
splice site |
probably benign |
|
R1022:Cfap100
|
UTSW |
6 |
90,389,986 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1024:Cfap100
|
UTSW |
6 |
90,389,986 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1086:Cfap100
|
UTSW |
6 |
90,380,890 (GRCm39) |
nonsense |
probably null |
|
R1440:Cfap100
|
UTSW |
6 |
90,389,166 (GRCm39) |
missense |
probably benign |
0.06 |
R1914:Cfap100
|
UTSW |
6 |
90,389,329 (GRCm39) |
splice site |
probably benign |
|
R1915:Cfap100
|
UTSW |
6 |
90,389,329 (GRCm39) |
splice site |
probably benign |
|
R2257:Cfap100
|
UTSW |
6 |
90,390,802 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4370:Cfap100
|
UTSW |
6 |
90,390,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R4739:Cfap100
|
UTSW |
6 |
90,389,825 (GRCm39) |
critical splice donor site |
probably null |
|
R4895:Cfap100
|
UTSW |
6 |
90,383,084 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5160:Cfap100
|
UTSW |
6 |
90,390,692 (GRCm39) |
critical splice donor site |
probably null |
|
R5983:Cfap100
|
UTSW |
6 |
90,396,373 (GRCm39) |
intron |
probably benign |
|
R6164:Cfap100
|
UTSW |
6 |
90,392,768 (GRCm39) |
missense |
probably benign |
0.15 |
R6394:Cfap100
|
UTSW |
6 |
90,394,605 (GRCm39) |
missense |
possibly damaging |
0.58 |
R6658:Cfap100
|
UTSW |
6 |
90,390,400 (GRCm39) |
missense |
probably damaging |
0.99 |
R7094:Cfap100
|
UTSW |
6 |
90,390,436 (GRCm39) |
missense |
|
|
R7254:Cfap100
|
UTSW |
6 |
90,383,043 (GRCm39) |
missense |
unknown |
|
R7922:Cfap100
|
UTSW |
6 |
90,380,962 (GRCm39) |
missense |
unknown |
|
R7983:Cfap100
|
UTSW |
6 |
90,392,687 (GRCm39) |
missense |
|
|
R8169:Cfap100
|
UTSW |
6 |
90,394,656 (GRCm39) |
missense |
|
|
R8490:Cfap100
|
UTSW |
6 |
90,390,721 (GRCm39) |
utr 3 prime |
probably benign |
|
R8835:Cfap100
|
UTSW |
6 |
90,386,597 (GRCm39) |
missense |
|
|
R9080:Cfap100
|
UTSW |
6 |
90,383,183 (GRCm39) |
missense |
unknown |
|
R9124:Cfap100
|
UTSW |
6 |
90,386,330 (GRCm39) |
missense |
|
|
R9185:Cfap100
|
UTSW |
6 |
90,390,416 (GRCm39) |
missense |
|
|
R9663:Cfap100
|
UTSW |
6 |
90,386,328 (GRCm39) |
missense |
|
|
Z1176:Cfap100
|
UTSW |
6 |
90,383,132 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2014-02-04 |