Incidental Mutation 'R7996:Cfap70'
ID |
616106 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap70
|
Ensembl Gene |
ENSMUSG00000039543 |
Gene Name |
cilia and flagella associated protein 70 |
Synonyms |
5330402L21Rik, Ttc18 |
MMRRC Submission |
046036-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R7996 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
20444261-20502294 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 20459194 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 723
(I723T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056869
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022348]
[ENSMUST00000022349]
[ENSMUST00000056073]
|
AlphaFold |
D3YVL2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022348
AA Change: I679T
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000022348 Gene: ENSMUSG00000039543 AA Change: I679T
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
AA Change: I667T
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000022349 Gene: ENSMUSG00000039543 AA Change: I667T
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
AA Change: I723T
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000056869 Gene: ENSMUSG00000039543 AA Change: I723T
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(17) : Targeted(2) Gene trapped(15)
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg5 |
A |
T |
17: 84,977,490 (GRCm39) |
N394K |
probably damaging |
Het |
Amotl1 |
T |
C |
9: 14,505,001 (GRCm39) |
D69G |
possibly damaging |
Het |
Arid5a |
G |
T |
1: 36,356,526 (GRCm39) |
C121F |
unknown |
Het |
Ccne2 |
C |
A |
4: 11,201,347 (GRCm39) |
Q292K |
probably benign |
Het |
Chrnd |
A |
G |
1: 87,118,828 (GRCm39) |
T62A |
probably damaging |
Het |
Cobll1 |
T |
A |
2: 64,981,329 (GRCm39) |
H87L |
possibly damaging |
Het |
Derl1 |
T |
G |
15: 57,741,970 (GRCm39) |
M122L |
probably benign |
Het |
Dnah5 |
T |
A |
15: 28,409,323 (GRCm39) |
N3580K |
probably damaging |
Het |
Efcab12 |
T |
C |
6: 115,800,378 (GRCm39) |
Q215R |
probably benign |
Het |
Eif3m |
T |
C |
2: 104,831,694 (GRCm39) |
N289D |
probably benign |
Het |
Elapor2 |
A |
C |
5: 9,512,881 (GRCm39) |
K958N |
probably damaging |
Het |
Emsy |
T |
A |
7: 98,242,888 (GRCm39) |
I1084L |
probably benign |
Het |
Garin3 |
T |
C |
11: 46,295,889 (GRCm39) |
V87A |
|
Het |
Garre1 |
G |
T |
7: 33,963,024 (GRCm39) |
T216K |
possibly damaging |
Het |
Gm3336 |
A |
T |
8: 71,173,146 (GRCm39) |
T53S |
unknown |
Het |
Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
Hr |
G |
A |
14: 70,801,043 (GRCm39) |
W676* |
probably null |
Het |
Katnb1 |
A |
T |
8: 95,824,643 (GRCm39) |
I546F |
possibly damaging |
Het |
Memo1 |
A |
T |
17: 74,565,491 (GRCm39) |
L24Q |
probably damaging |
Het |
Mmel1 |
C |
G |
4: 154,976,912 (GRCm39) |
Q529E |
probably benign |
Het |
Naip5 |
A |
G |
13: 100,358,164 (GRCm39) |
F1024S |
probably damaging |
Het |
Or4c58 |
T |
C |
2: 89,674,759 (GRCm39) |
D186G |
probably benign |
Het |
Or7c70 |
A |
T |
10: 78,683,155 (GRCm39) |
V198E |
probably damaging |
Het |
Paics |
A |
G |
5: 77,107,276 (GRCm39) |
K110R |
probably benign |
Het |
Pate13 |
G |
A |
9: 35,820,650 (GRCm39) |
R34H |
probably damaging |
Het |
Pcdhgc4 |
C |
T |
18: 37,950,459 (GRCm39) |
S625F |
probably damaging |
Het |
Pnpla8 |
T |
A |
12: 44,329,766 (GRCm39) |
L106* |
probably null |
Het |
Rabggtb |
T |
C |
3: 153,617,605 (GRCm39) |
H31R |
probably damaging |
Het |
Rhot1 |
G |
A |
11: 80,148,363 (GRCm39) |
C601Y |
probably damaging |
Het |
Rps27 |
A |
G |
3: 90,120,309 (GRCm39) |
V53A |
probably benign |
Het |
Sdr39u1 |
C |
A |
14: 56,135,344 (GRCm39) |
G200* |
probably null |
Het |
Sesn1 |
T |
A |
10: 41,770,929 (GRCm39) |
Y153* |
probably null |
Het |
Slc25a40 |
A |
G |
5: 8,493,653 (GRCm39) |
T168A |
probably damaging |
Het |
Smoc2 |
C |
T |
17: 14,595,730 (GRCm39) |
R286* |
probably null |
Het |
Smtnl2 |
T |
A |
11: 72,291,200 (GRCm39) |
K349N |
probably damaging |
Het |
Snx16 |
G |
T |
3: 10,500,509 (GRCm39) |
D153E |
probably benign |
Het |
Spata31e5 |
C |
T |
1: 28,817,487 (GRCm39) |
E182K |
probably damaging |
Het |
Ssu72 |
A |
C |
4: 155,816,450 (GRCm39) |
N144T |
probably benign |
Het |
Stk40 |
C |
A |
4: 126,030,667 (GRCm39) |
L296I |
probably damaging |
Het |
Sult3a2 |
T |
C |
10: 33,644,254 (GRCm39) |
M225V |
probably damaging |
Het |
Syne2 |
T |
C |
12: 76,051,441 (GRCm39) |
L4057P |
probably damaging |
Het |
Tbx2 |
A |
G |
11: 85,725,616 (GRCm39) |
H189R |
probably damaging |
Het |
Tead1 |
T |
C |
7: 112,441,311 (GRCm39) |
|
probably null |
Het |
Tgs1 |
T |
C |
4: 3,605,842 (GRCm39) |
S786P |
probably damaging |
Het |
Tmco4 |
T |
C |
4: 138,748,172 (GRCm39) |
Y251H |
probably damaging |
Het |
Trim14 |
A |
T |
4: 46,533,086 (GRCm39) |
C76S |
probably benign |
Het |
Tubgcp6 |
T |
A |
15: 88,993,231 (GRCm39) |
Q506L |
possibly damaging |
Het |
Vmn2r50 |
A |
T |
7: 9,781,795 (GRCm39) |
F317I |
probably damaging |
Het |
Vwa5a |
T |
A |
9: 38,639,124 (GRCm39) |
Y335* |
probably null |
Het |
Zgrf1 |
C |
T |
3: 127,389,573 (GRCm39) |
T1257I |
possibly damaging |
Het |
Zpr1 |
A |
G |
9: 46,184,863 (GRCm39) |
N87D |
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 |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCTGACTTCCCACCATCATAG -3'
(R):5'- TCACGTTGACAGGTAGACAAG -3'
Sequencing Primer
(F):5'- TCTGAAGACAGCTACAGTGTAC -3'
(R):5'- CGTTGACAGGTAGACAAGAAGGAG -3'
|
Posted On |
2020-01-23 |