Incidental Mutation 'IGL01665:Cfap70'
ID |
103284 |
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 # |
IGL01665
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
20444261-20502294 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 20453186 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 897
(T897M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022349
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022348]
[ENSMUST00000022349]
[ENSMUST00000056073]
|
AlphaFold |
D3YVL2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022348
AA Change: T870M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000022348 Gene: ENSMUSG00000039543 AA Change: T870M
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 damaging
Transcript: ENSMUST00000022349
AA Change: T897M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000022349 Gene: ENSMUSG00000039543 AA Change: T897M
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 damaging
Transcript: ENSMUST00000056073
AA Change: T914M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000056869 Gene: ENSMUSG00000039543 AA Change: T914M
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: ENSMUST00000125558
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000144797
AA Change: T919M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000116668 Gene: ENSMUSG00000039543 AA Change: T919M
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(17) : Targeted(2) Gene trapped(15)
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg1 |
T |
A |
9: 54,530,004 (GRCm39) |
I231L |
probably benign |
Het |
Adcyap1 |
T |
A |
17: 93,507,506 (GRCm39) |
V22D |
probably damaging |
Het |
Adgra3 |
T |
C |
5: 50,164,272 (GRCm39) |
T236A |
possibly damaging |
Het |
Adipor2 |
A |
T |
6: 119,338,887 (GRCm39) |
L122H |
probably benign |
Het |
Atp1a4 |
T |
C |
1: 172,074,291 (GRCm39) |
I321V |
probably benign |
Het |
Bhmt2 |
A |
T |
13: 93,799,661 (GRCm39) |
Y258* |
probably null |
Het |
C230029F24Rik |
T |
A |
1: 49,377,253 (GRCm39) |
|
noncoding transcript |
Het |
Ccpg1 |
T |
A |
9: 72,913,159 (GRCm39) |
F232I |
probably damaging |
Het |
Cd83 |
A |
T |
13: 43,955,153 (GRCm39) |
T195S |
probably benign |
Het |
Cdcp3 |
G |
T |
7: 130,848,386 (GRCm39) |
G847* |
probably null |
Het |
Cyp3a11 |
T |
A |
5: 145,805,475 (GRCm39) |
M181L |
probably benign |
Het |
Frem2 |
C |
T |
3: 53,457,083 (GRCm39) |
V2090I |
probably benign |
Het |
Gm45234 |
A |
G |
6: 124,723,571 (GRCm39) |
|
probably benign |
Het |
Gm7964 |
T |
A |
7: 83,406,341 (GRCm39) |
|
noncoding transcript |
Het |
Igsf9 |
T |
A |
1: 172,319,738 (GRCm39) |
C39* |
probably null |
Het |
Il1rap |
A |
T |
16: 26,541,463 (GRCm39) |
D568V |
probably damaging |
Het |
Ints7 |
C |
T |
1: 191,345,331 (GRCm39) |
|
probably benign |
Het |
Lsamp |
C |
T |
16: 41,964,375 (GRCm39) |
R250* |
probably null |
Het |
Oit3 |
T |
A |
10: 59,274,731 (GRCm39) |
D23V |
probably damaging |
Het |
Pcdh17 |
T |
A |
14: 84,684,442 (GRCm39) |
L303Q |
probably damaging |
Het |
Pcdhb1 |
T |
A |
18: 37,400,450 (GRCm39) |
N800K |
probably benign |
Het |
Plce1 |
A |
G |
19: 38,513,331 (GRCm39) |
D210G |
probably benign |
Het |
Plekhb2 |
T |
A |
1: 34,908,411 (GRCm39) |
Y152N |
probably damaging |
Het |
Rbp3 |
T |
C |
14: 33,678,088 (GRCm39) |
S679P |
probably benign |
Het |
Rps6kc1 |
T |
C |
1: 190,643,854 (GRCm39) |
T2A |
possibly damaging |
Het |
Tmem167 |
T |
A |
13: 90,246,504 (GRCm39) |
S9R |
probably damaging |
Het |
Xpnpep1 |
A |
T |
19: 52,985,463 (GRCm39) |
S522T |
probably benign |
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 |
IGL01061:Cfap70
|
APN |
14 |
20,497,693 (GRCm39) |
splice site |
probably benign |
|
IGL01520:Cfap70
|
APN |
14 |
20,470,755 (GRCm39) |
missense |
probably benign |
0.23 |
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 |
2014-01-21 |