Incidental Mutation 'IGL01061:Cfap70'
ID |
52638 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cfap70
|
Ensembl Gene |
ENSMUSG00000039543 |
Gene Name |
cilia and flagella associated protein 70 |
Synonyms |
5330402L21Rik, Ttc18 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
IGL01061
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
20444261-20502294 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 20497693 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056869
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022348]
[ENSMUST00000022349]
[ENSMUST00000056073]
|
AlphaFold |
D3YVL2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022348
|
SMART Domains |
Protein: ENSMUSP00000022348 Gene: ENSMUSG00000039543
Domain | Start | End | E-Value | Type |
Blast:C2
|
11 |
122 |
5e-44 |
BLAST |
low complexity region
|
494 |
503 |
N/A |
INTRINSIC |
low complexity region
|
581 |
590 |
N/A |
INTRINSIC |
Blast:TPR
|
591 |
623 |
2e-11 |
BLAST |
Blast:TPR
|
624 |
657 |
3e-15 |
BLAST |
TPR
|
658 |
691 |
1.73e1 |
SMART |
Blast:TPR
|
693 |
724 |
2e-7 |
BLAST |
TPR
|
905 |
938 |
1.26e1 |
SMART |
TPR
|
939 |
972 |
5.03e-1 |
SMART |
TPR
|
976 |
1009 |
2.52e-1 |
SMART |
TPR
|
1043 |
1076 |
2.07e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000022349
|
SMART Domains |
Protein: ENSMUSP00000022349 Gene: ENSMUSG00000039543
Domain | Start | End | E-Value | Type |
Blast:C2
|
11 |
122 |
5e-44 |
BLAST |
low complexity region
|
438 |
447 |
N/A |
INTRINSIC |
low complexity region
|
569 |
578 |
N/A |
INTRINSIC |
Blast:TPR
|
579 |
611 |
2e-11 |
BLAST |
Blast:TPR
|
612 |
645 |
3e-15 |
BLAST |
TPR
|
646 |
679 |
1.73e1 |
SMART |
Blast:TPR
|
681 |
712 |
2e-7 |
BLAST |
TPR
|
932 |
965 |
1.26e1 |
SMART |
TPR
|
966 |
999 |
5.03e-1 |
SMART |
TPR
|
1003 |
1036 |
2.52e-1 |
SMART |
TPR
|
1070 |
1103 |
2.07e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000056073
|
SMART Domains |
Protein: ENSMUSP00000056869 Gene: ENSMUSG00000039543
Domain | Start | End | E-Value | Type |
Blast:C2
|
11 |
122 |
5e-44 |
BLAST |
low complexity region
|
494 |
503 |
N/A |
INTRINSIC |
low complexity region
|
625 |
634 |
N/A |
INTRINSIC |
Blast:TPR
|
635 |
667 |
2e-11 |
BLAST |
Blast:TPR
|
668 |
701 |
3e-15 |
BLAST |
TPR
|
702 |
735 |
1.73e1 |
SMART |
Blast:TPR
|
737 |
768 |
2e-7 |
BLAST |
TPR
|
949 |
982 |
1.26e1 |
SMART |
TPR
|
983 |
1016 |
5.03e-1 |
SMART |
TPR
|
1020 |
1053 |
2.52e-1 |
SMART |
TPR
|
1087 |
1120 |
2.07e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141432
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143940
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000116668 Gene: ENSMUSG00000039543
Domain | Start | End | E-Value | Type |
Blast:C2
|
11 |
122 |
5e-44 |
BLAST |
low complexity region
|
494 |
503 |
N/A |
INTRINSIC |
low complexity region
|
630 |
639 |
N/A |
INTRINSIC |
Blast:TPR
|
640 |
672 |
2e-11 |
BLAST |
Blast:TPR
|
673 |
706 |
3e-15 |
BLAST |
TPR
|
707 |
740 |
1.73e1 |
SMART |
Blast:TPR
|
742 |
773 |
2e-7 |
BLAST |
TPR
|
954 |
987 |
1.26e1 |
SMART |
TPR
|
988 |
1021 |
5.03e-1 |
SMART |
TPR
|
1025 |
1058 |
2.52e-1 |
SMART |
TPR
|
1092 |
1125 |
2.07e1 |
SMART |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000119023 Gene: ENSMUSG00000039543
Domain | Start | End | E-Value | Type |
Blast:C2
|
11 |
122 |
8e-48 |
BLAST |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(17) : Targeted(2) Gene trapped(15)
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
Ankfy1 |
T |
A |
11: 72,619,686 (GRCm39) |
C186* |
probably null |
Het |
Ankmy1 |
A |
T |
1: 92,798,696 (GRCm39) |
|
probably benign |
Het |
B3gnt2 |
T |
A |
11: 22,786,042 (GRCm39) |
E382V |
probably damaging |
Het |
Carmil3 |
T |
G |
14: 55,736,087 (GRCm39) |
S610A |
possibly damaging |
Het |
Chek1 |
G |
A |
9: 36,625,815 (GRCm39) |
R277C |
possibly damaging |
Het |
Cpb1 |
T |
A |
3: 20,320,680 (GRCm39) |
I92L |
probably benign |
Het |
Ddx56 |
C |
T |
11: 6,214,671 (GRCm39) |
|
probably null |
Het |
Dicer1 |
A |
T |
12: 104,672,586 (GRCm39) |
M887K |
probably null |
Het |
Dnajc18 |
A |
G |
18: 35,813,995 (GRCm39) |
|
probably benign |
Het |
Dock2 |
A |
G |
11: 34,596,653 (GRCm39) |
V401A |
probably damaging |
Het |
Dock4 |
A |
C |
12: 40,752,968 (GRCm39) |
N434T |
probably benign |
Het |
Dync2i1 |
C |
A |
12: 116,193,324 (GRCm39) |
A543S |
probably benign |
Het |
Ehbp1l1 |
A |
T |
19: 5,767,916 (GRCm39) |
M1129K |
probably benign |
Het |
Fam83a |
A |
T |
15: 57,849,771 (GRCm39) |
Y105F |
possibly damaging |
Het |
Fnbp1 |
C |
A |
2: 30,973,054 (GRCm39) |
D70Y |
probably damaging |
Het |
Gtf3c2 |
A |
G |
5: 31,325,698 (GRCm39) |
F414L |
possibly damaging |
Het |
Kndc1 |
A |
T |
7: 139,502,610 (GRCm39) |
E965D |
probably benign |
Het |
Lrrc66 |
T |
C |
5: 73,772,842 (GRCm39) |
K209E |
probably benign |
Het |
Mcm3 |
A |
T |
1: 20,884,720 (GRCm39) |
I261N |
possibly damaging |
Het |
Mier3 |
T |
A |
13: 111,850,970 (GRCm39) |
|
probably benign |
Het |
Muc6 |
T |
C |
7: 141,234,720 (GRCm39) |
E669G |
probably damaging |
Het |
Myh1 |
T |
A |
11: 67,108,688 (GRCm39) |
M1368K |
probably benign |
Het |
Nav1 |
A |
G |
1: 135,378,368 (GRCm39) |
I1653T |
probably damaging |
Het |
Nuak1 |
C |
A |
10: 84,210,998 (GRCm39) |
L363F |
probably damaging |
Het |
Or14j2 |
A |
G |
17: 37,885,795 (GRCm39) |
I173T |
possibly damaging |
Het |
Or52b1 |
A |
G |
7: 104,978,589 (GRCm39) |
I270T |
possibly damaging |
Het |
Or9i1 |
T |
C |
19: 13,840,069 (GRCm39) |
V304A |
possibly damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,365,338 (GRCm39) |
H1153R |
probably damaging |
Het |
Poglut3 |
A |
G |
9: 53,299,887 (GRCm39) |
|
probably benign |
Het |
Ppp6r2 |
A |
T |
15: 89,170,218 (GRCm39) |
|
probably benign |
Het |
Prelid3b |
T |
C |
2: 174,307,614 (GRCm39) |
|
probably null |
Het |
Prrt3 |
T |
C |
6: 113,474,731 (GRCm39) |
K164E |
possibly damaging |
Het |
Rab22a |
T |
A |
2: 173,530,003 (GRCm39) |
D60E |
probably damaging |
Het |
Rab32 |
A |
G |
10: 10,433,618 (GRCm39) |
L72P |
probably damaging |
Het |
Samm50 |
A |
G |
15: 84,086,455 (GRCm39) |
T225A |
probably benign |
Het |
Snx27 |
T |
A |
3: 94,436,287 (GRCm39) |
|
probably benign |
Het |
Taf7 |
G |
A |
18: 37,776,486 (GRCm39) |
T27M |
probably damaging |
Het |
Tgm5 |
A |
T |
2: 120,901,977 (GRCm39) |
C231S |
probably benign |
Het |
Tll1 |
A |
G |
8: 64,491,488 (GRCm39) |
|
probably null |
Het |
Tmem150a |
A |
G |
6: 72,334,101 (GRCm39) |
D61G |
probably damaging |
Het |
Ttll8 |
G |
A |
15: 88,801,453 (GRCm39) |
R412C |
possibly damaging |
Het |
Ubr3 |
T |
A |
2: 69,813,569 (GRCm39) |
D1293E |
probably benign |
Het |
Utp20 |
T |
C |
10: 88,606,566 (GRCm39) |
N1669D |
probably benign |
Het |
Vmn2r28 |
A |
G |
7: 5,491,183 (GRCm39) |
W355R |
probably damaging |
Het |
Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
Het |
Zfhx2 |
T |
A |
14: 55,311,339 (GRCm39) |
N452Y |
possibly damaging |
Het |
Zfp180 |
T |
G |
7: 23,804,170 (GRCm39) |
D196E |
possibly damaging |
Het |
|
Other mutations in Cfap70 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00468:Cfap70
|
APN |
14 |
20,462,530 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL00567:Cfap70
|
APN |
14 |
20,444,748 (GRCm39) |
missense |
probably benign |
0.30 |
IGL00773:Cfap70
|
APN |
14 |
20,497,602 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01520:Cfap70
|
APN |
14 |
20,470,755 (GRCm39) |
missense |
probably benign |
0.23 |
IGL01665:Cfap70
|
APN |
14 |
20,453,186 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01918:Cfap70
|
APN |
14 |
20,475,467 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02211:Cfap70
|
APN |
14 |
20,445,040 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02613:Cfap70
|
APN |
14 |
20,459,132 (GRCm39) |
splice site |
probably null |
|
IGL03142:Cfap70
|
APN |
14 |
20,447,283 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03354:Cfap70
|
APN |
14 |
20,482,050 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03047:Cfap70
|
UTSW |
14 |
20,498,646 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL03097:Cfap70
|
UTSW |
14 |
20,498,676 (GRCm39) |
missense |
probably benign |
0.00 |
P0008:Cfap70
|
UTSW |
14 |
20,466,600 (GRCm39) |
missense |
probably damaging |
0.99 |
P0035:Cfap70
|
UTSW |
14 |
20,474,539 (GRCm39) |
splice site |
probably benign |
|
R0200:Cfap70
|
UTSW |
14 |
20,498,631 (GRCm39) |
missense |
probably damaging |
0.96 |
R0207:Cfap70
|
UTSW |
14 |
20,462,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R0238:Cfap70
|
UTSW |
14 |
20,498,673 (GRCm39) |
missense |
probably benign |
0.01 |
R0238:Cfap70
|
UTSW |
14 |
20,498,673 (GRCm39) |
missense |
probably benign |
0.01 |
R0239:Cfap70
|
UTSW |
14 |
20,498,673 (GRCm39) |
missense |
probably benign |
0.01 |
R0239:Cfap70
|
UTSW |
14 |
20,498,673 (GRCm39) |
missense |
probably benign |
0.01 |
R0463:Cfap70
|
UTSW |
14 |
20,498,631 (GRCm39) |
missense |
probably damaging |
0.96 |
R0608:Cfap70
|
UTSW |
14 |
20,498,631 (GRCm39) |
missense |
probably damaging |
0.96 |
R0703:Cfap70
|
UTSW |
14 |
20,489,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R0919:Cfap70
|
UTSW |
14 |
20,454,232 (GRCm39) |
missense |
probably benign |
0.00 |
R0928:Cfap70
|
UTSW |
14 |
20,493,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R1595:Cfap70
|
UTSW |
14 |
20,497,604 (GRCm39) |
missense |
probably benign |
0.10 |
R1667:Cfap70
|
UTSW |
14 |
20,454,225 (GRCm39) |
missense |
probably benign |
0.41 |
R1799:Cfap70
|
UTSW |
14 |
20,445,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R1869:Cfap70
|
UTSW |
14 |
20,458,678 (GRCm39) |
nonsense |
probably null |
|
R1920:Cfap70
|
UTSW |
14 |
20,445,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R1968:Cfap70
|
UTSW |
14 |
20,470,879 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2173:Cfap70
|
UTSW |
14 |
20,458,630 (GRCm39) |
missense |
probably benign |
0.00 |
R3081:Cfap70
|
UTSW |
14 |
20,470,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R3813:Cfap70
|
UTSW |
14 |
20,471,190 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3979:Cfap70
|
UTSW |
14 |
20,489,787 (GRCm39) |
missense |
probably benign |
0.11 |
R4093:Cfap70
|
UTSW |
14 |
20,459,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R4271:Cfap70
|
UTSW |
14 |
20,470,793 (GRCm39) |
missense |
probably benign |
0.00 |
R4604:Cfap70
|
UTSW |
14 |
20,493,729 (GRCm39) |
missense |
probably benign |
0.01 |
R4839:Cfap70
|
UTSW |
14 |
20,475,597 (GRCm39) |
missense |
probably damaging |
0.96 |
R6387:Cfap70
|
UTSW |
14 |
20,498,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R6464:Cfap70
|
UTSW |
14 |
20,451,107 (GRCm39) |
splice site |
probably null |
|
R6915:Cfap70
|
UTSW |
14 |
20,459,153 (GRCm39) |
missense |
probably benign |
0.17 |
R7317:Cfap70
|
UTSW |
14 |
20,450,502 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7400:Cfap70
|
UTSW |
14 |
20,458,335 (GRCm39) |
missense |
probably benign |
|
R7962:Cfap70
|
UTSW |
14 |
20,486,854 (GRCm39) |
missense |
probably benign |
0.00 |
R7974:Cfap70
|
UTSW |
14 |
20,470,818 (GRCm39) |
missense |
probably damaging |
0.99 |
R7996:Cfap70
|
UTSW |
14 |
20,459,194 (GRCm39) |
missense |
probably benign |
0.02 |
R8897:Cfap70
|
UTSW |
14 |
20,493,669 (GRCm39) |
critical splice donor site |
probably null |
|
R9116:Cfap70
|
UTSW |
14 |
20,497,590 (GRCm39) |
missense |
probably benign |
0.01 |
R9174:Cfap70
|
UTSW |
14 |
20,493,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R9649:Cfap70
|
UTSW |
14 |
20,450,546 (GRCm39) |
missense |
probably damaging |
0.99 |
R9667:Cfap70
|
UTSW |
14 |
20,490,690 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2013-06-21 |