Incidental Mutation 'IGL02086:Cfap100'
ID |
285470 |
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 # |
IGL02086
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
90380461-90405779 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 90390954 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 8
(F8L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059976
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062750]
[ENSMUST00000153843]
[ENSMUST00000165673]
|
AlphaFold |
Q80VN0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000062750
AA Change: F8L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000059976 Gene: ENSMUSG00000048794 AA Change: F8L
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 |
unknown
Transcript: ENSMUST00000153843
AA Change: F8L
|
Predicted Effect |
unknown
Transcript: ENSMUST00000165673
AA Change: F162L
|
SMART Domains |
Protein: ENSMUSP00000126515 Gene: ENSMUSG00000048794 AA Change: F162L
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930426L09Rik |
T |
C |
2: 19,003,623 (GRCm39) |
|
probably benign |
Het |
Abi3bp |
A |
G |
16: 56,462,930 (GRCm39) |
|
probably benign |
Het |
Asb4 |
T |
C |
6: 5,398,386 (GRCm39) |
I117T |
probably benign |
Het |
Birc6 |
T |
G |
17: 74,946,822 (GRCm39) |
L2847R |
probably damaging |
Het |
C2cd2 |
A |
G |
16: 97,691,208 (GRCm39) |
|
probably benign |
Het |
Ccdc77 |
C |
A |
6: 120,316,119 (GRCm39) |
C186F |
possibly damaging |
Het |
Cd300ld2 |
T |
A |
11: 114,903,384 (GRCm39) |
|
probably benign |
Het |
Cd55b |
A |
T |
1: 130,345,919 (GRCm39) |
D166E |
probably benign |
Het |
Col2a1 |
C |
T |
15: 97,884,618 (GRCm39) |
|
probably null |
Het |
Dbf4 |
A |
G |
5: 8,453,189 (GRCm39) |
I270T |
probably benign |
Het |
Dkk3 |
T |
C |
7: 111,748,236 (GRCm39) |
S123G |
probably benign |
Het |
Ep400 |
A |
G |
5: 110,824,809 (GRCm39) |
|
probably benign |
Het |
Fam184a |
A |
G |
10: 53,575,351 (GRCm39) |
I30T |
probably damaging |
Het |
Fam20a |
T |
C |
11: 109,564,239 (GRCm39) |
I505V |
probably benign |
Het |
Fbh1 |
T |
C |
2: 11,768,938 (GRCm39) |
D285G |
probably benign |
Het |
Fcho1 |
T |
C |
8: 72,169,444 (GRCm39) |
E154G |
probably damaging |
Het |
Klhdc1 |
A |
G |
12: 69,329,958 (GRCm39) |
I362M |
probably benign |
Het |
Knl1 |
A |
T |
2: 118,931,255 (GRCm39) |
E1990D |
probably benign |
Het |
Lancl2 |
A |
G |
6: 57,711,024 (GRCm39) |
Y394C |
probably damaging |
Het |
Lgi2 |
G |
A |
5: 52,723,299 (GRCm39) |
S50F |
probably damaging |
Het |
Map2k7 |
A |
G |
8: 4,288,950 (GRCm39) |
E14G |
probably damaging |
Het |
Mga |
A |
G |
2: 119,754,517 (GRCm39) |
I1009V |
probably damaging |
Het |
Nat9 |
C |
A |
11: 115,074,234 (GRCm39) |
|
probably null |
Het |
Nek2 |
G |
A |
1: 191,563,401 (GRCm39) |
A422T |
probably benign |
Het |
Nfkbiz |
A |
T |
16: 55,636,034 (GRCm39) |
L509Q |
probably damaging |
Het |
Or56b2 |
A |
T |
7: 104,337,634 (GRCm39) |
R137S |
probably benign |
Het |
Pgap1 |
T |
A |
1: 54,587,147 (GRCm39) |
Q143L |
probably damaging |
Het |
Pkd1l3 |
C |
T |
8: 110,392,217 (GRCm39) |
T1937I |
probably damaging |
Het |
Pou1f1 |
A |
G |
16: 65,326,784 (GRCm39) |
E128G |
probably damaging |
Het |
Ppfia3 |
T |
C |
7: 44,989,996 (GRCm39) |
|
probably benign |
Het |
Prkd1 |
T |
C |
12: 50,434,046 (GRCm39) |
I566V |
probably benign |
Het |
Psd2 |
A |
G |
18: 36,138,959 (GRCm39) |
R528G |
probably damaging |
Het |
Ptprg |
G |
T |
14: 12,110,080 (GRCm38) |
E263* |
probably null |
Het |
Radil |
T |
C |
5: 142,529,576 (GRCm39) |
D40G |
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,750,442 (GRCm39) |
Y1943F |
probably damaging |
Het |
Slc30a4 |
C |
T |
2: 122,543,947 (GRCm39) |
|
probably benign |
Het |
Slc31a1 |
A |
T |
4: 62,306,241 (GRCm39) |
T120S |
possibly damaging |
Het |
Snrpe |
A |
G |
1: 133,537,487 (GRCm39) |
|
probably benign |
Het |
Stx3 |
G |
T |
19: 11,796,046 (GRCm39) |
|
probably benign |
Het |
Thoc2l |
A |
G |
5: 104,666,867 (GRCm39) |
E463G |
possibly damaging |
Het |
Ufsp1 |
T |
A |
5: 137,293,178 (GRCm39) |
C43S |
probably damaging |
Het |
Vac14 |
T |
A |
8: 111,379,950 (GRCm39) |
M416K |
possibly damaging |
Het |
Vmn1r81 |
A |
C |
7: 11,993,792 (GRCm39) |
V272G |
possibly damaging |
Het |
Vmn2r107 |
T |
A |
17: 20,578,062 (GRCm39) |
I457K |
probably benign |
Het |
Vmn2r72 |
A |
T |
7: 85,387,374 (GRCm39) |
V730E |
probably benign |
Het |
Vmn2r9 |
T |
C |
5: 108,995,433 (GRCm39) |
Y405C |
probably damaging |
Het |
Zcchc17 |
T |
C |
4: 130,210,440 (GRCm39) |
*242W |
probably null |
Het |
Zfp503 |
T |
C |
14: 22,037,354 (GRCm39) |
K83R |
possibly damaging |
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 |
IGL01803:Cfap100
|
APN |
6 |
90,392,717 (GRCm39) |
missense |
probably benign |
0.29 |
IGL01910:Cfap100
|
APN |
6 |
90,386,606 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2015-04-16 |