Incidental Mutation 'R4093:Cfap70'
| ID |
317754 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap70
|
| Ensembl Gene |
ENSMUSG00000039543 |
| Gene Name |
cilia and flagella associated protein 70 |
| Synonyms |
5330402L21Rik, Ttc18 |
| MMRRC Submission |
041627-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R4093 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
20444261-20502294 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 20459181 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 671
(D671E)
|
| 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: D683E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022348
Gene: ENSMUSG00000039543
AA Change: D683E
| 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: D671E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000022349
Gene: ENSMUSG00000039543
AA Change: D671E
| 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: D727E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000056869
Gene: ENSMUSG00000039543
AA Change: D727E
| 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 |
probably damaging
Transcript: ENSMUST00000144797
AA Change: D732E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116668
Gene: ENSMUSG00000039543
AA Change: D732E
| 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 |
|
| Meta Mutation Damage Score |
0.1022 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
92% (69/75) |
| Allele List at MGI |
All alleles(17) : Targeted(2) Gene trapped(15)
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
A |
G |
5: 4,093,996 (GRCm39) |
M2173V |
probably damaging |
Het |
| Alas1 |
G |
T |
9: 106,119,000 (GRCm39) |
|
probably null |
Het |
| Angpt1 |
T |
C |
15: 42,386,941 (GRCm39) |
T138A |
probably damaging |
Het |
| Atp2c2 |
G |
A |
8: 120,476,610 (GRCm39) |
|
probably null |
Het |
| Cadm2 |
A |
G |
16: 66,581,675 (GRCm39) |
V210A |
possibly damaging |
Het |
| Chd2 |
C |
T |
7: 73,150,764 (GRCm39) |
E322K |
possibly damaging |
Het |
| Chrnd |
C |
T |
1: 87,118,729 (GRCm39) |
Q29* |
probably null |
Het |
| Cip2a |
T |
C |
16: 48,821,339 (GRCm39) |
|
probably benign |
Het |
| Cym |
A |
G |
3: 107,121,582 (GRCm39) |
S237P |
probably benign |
Het |
| D030068K23Rik |
A |
G |
8: 109,978,091 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdma2 |
T |
A |
11: 98,541,677 (GRCm39) |
S135T |
probably benign |
Het |
| Hc |
A |
T |
2: 34,873,819 (GRCm39) |
Y158* |
probably null |
Het |
| Hoxb3 |
C |
A |
11: 96,236,926 (GRCm39) |
H335N |
probably damaging |
Het |
| Htr2a |
G |
A |
14: 74,943,789 (GRCm39) |
M456I |
probably benign |
Het |
| Ighv1-19 |
G |
A |
12: 114,672,350 (GRCm39) |
T90I |
probably damaging |
Het |
| Kansl3 |
C |
A |
1: 36,384,035 (GRCm39) |
S729I |
probably damaging |
Het |
| Kcnab1 |
T |
C |
3: 65,207,035 (GRCm39) |
I137T |
possibly damaging |
Het |
| Kcnt1 |
A |
T |
2: 25,767,927 (GRCm39) |
E12V |
probably damaging |
Het |
| Klk15 |
A |
T |
7: 43,588,204 (GRCm39) |
S171C |
possibly damaging |
Het |
| Lcn2 |
A |
T |
2: 32,277,728 (GRCm39) |
M1K |
probably null |
Het |
| Lrig1 |
T |
C |
6: 94,590,559 (GRCm39) |
D487G |
probably benign |
Het |
| Lrp8 |
T |
A |
4: 107,700,468 (GRCm39) |
C135* |
probably null |
Het |
| Lrrc31 |
C |
A |
3: 30,749,671 (GRCm39) |
S54I |
probably damaging |
Het |
| Ltbp4 |
A |
G |
7: 27,024,641 (GRCm39) |
V663A |
possibly damaging |
Het |
| Med27 |
G |
A |
2: 29,267,920 (GRCm39) |
|
probably benign |
Het |
| Mical1 |
T |
C |
10: 41,362,933 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
A |
T |
2: 181,453,191 (GRCm39) |
M799L |
probably damaging |
Het |
| Nlrc4 |
T |
C |
17: 74,752,953 (GRCm39) |
M477V |
probably benign |
Het |
| Npy4r |
T |
C |
14: 33,869,098 (GRCm39) |
I63M |
probably benign |
Het |
| Or2t43 |
A |
T |
11: 58,457,655 (GRCm39) |
I172N |
probably damaging |
Het |
| Or52e15 |
C |
T |
7: 104,645,842 (GRCm39) |
G90S |
probably benign |
Het |
| Or8b1b |
T |
A |
9: 38,375,379 (GRCm39) |
L14Q |
probably null |
Het |
| Or8s10 |
T |
C |
15: 98,335,563 (GRCm39) |
L71P |
probably damaging |
Het |
| Piezo1 |
A |
C |
8: 123,227,899 (GRCm39) |
|
probably null |
Het |
| Ppp1r12c |
T |
C |
7: 4,486,366 (GRCm39) |
E601G |
probably damaging |
Het |
| Proser1 |
T |
C |
3: 53,387,133 (GRCm39) |
|
probably null |
Het |
| Psme2 |
A |
T |
14: 55,825,734 (GRCm39) |
N143K |
probably benign |
Het |
| Pygo2 |
C |
A |
3: 89,340,571 (GRCm39) |
P323Q |
probably damaging |
Het |
| Rab11b |
T |
C |
17: 33,968,763 (GRCm39) |
T77A |
possibly damaging |
Het |
| Recql5 |
A |
G |
11: 115,795,714 (GRCm39) |
S190P |
probably benign |
Het |
| Serpina12 |
A |
G |
12: 104,004,183 (GRCm39) |
F150L |
probably damaging |
Het |
| Sfswap |
A |
G |
5: 129,637,805 (GRCm39) |
S821G |
possibly damaging |
Het |
| Slc22a2 |
C |
T |
17: 12,831,281 (GRCm39) |
T357M |
probably damaging |
Het |
| Spag6l |
A |
C |
16: 16,646,888 (GRCm39) |
N39K |
probably benign |
Het |
| Srl |
A |
G |
16: 4,315,316 (GRCm39) |
S109P |
possibly damaging |
Het |
| Tagap |
A |
T |
17: 8,148,255 (GRCm39) |
H152L |
probably damaging |
Het |
| Tbx3 |
T |
A |
5: 119,818,813 (GRCm39) |
S463T |
probably benign |
Het |
| Tcaf2 |
A |
G |
6: 42,619,772 (GRCm39) |
L85P |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,544,979 (GRCm39) |
S2332C |
probably damaging |
Het |
| Trim60 |
A |
T |
8: 65,454,030 (GRCm39) |
M73K |
probably benign |
Het |
| Trpc1 |
T |
C |
9: 95,588,918 (GRCm39) |
T769A |
probably benign |
Het |
| Tubgcp4 |
T |
A |
2: 121,025,958 (GRCm39) |
L601Q |
probably benign |
Het |
| Unc5d |
T |
C |
8: 29,334,865 (GRCm39) |
Y154C |
possibly damaging |
Het |
| Vmn1r185 |
A |
T |
7: 26,311,208 (GRCm39) |
V99E |
probably damaging |
Het |
| Vmn1r57 |
G |
T |
7: 5,223,856 (GRCm39) |
S127I |
possibly damaging |
Het |
| Vmn1r62 |
T |
A |
7: 5,678,943 (GRCm39) |
M208K |
probably damaging |
Het |
| Vmn2r110 |
T |
C |
17: 20,803,642 (GRCm39) |
D311G |
possibly damaging |
Het |
| Vmn2r48 |
C |
A |
7: 9,676,185 (GRCm39) |
S432I |
probably benign |
Het |
| Vmn2r48 |
T |
A |
7: 9,676,186 (GRCm39) |
S432C |
probably damaging |
Het |
| Vmn2r71 |
T |
C |
7: 85,270,442 (GRCm39) |
V536A |
probably benign |
Het |
| Vstm2a |
A |
G |
11: 16,209,884 (GRCm39) |
T37A |
probably damaging |
Het |
| Wfs1 |
T |
C |
5: 37,124,809 (GRCm39) |
H694R |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,348,940 (GRCm39) |
S2440P |
possibly damaging |
Het |
| Zfp61 |
A |
G |
7: 23,990,700 (GRCm39) |
|
probably null |
Het |
| Zfp64 |
T |
C |
2: 168,767,855 (GRCm39) |
T586A |
probably benign |
Het |
| Zfp943 |
T |
A |
17: 22,211,963 (GRCm39) |
C350S |
probably 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATAAAGGGCTGACTTCCCACC -3'
(R):5'- TCACGTTGACAGGTAGACAAG -3'
Sequencing Primer
(F):5'- TCTGAAGACAGCTACAGTGTAC -3'
(R):5'- CGTTGACAGGTAGACAAGAAGGAG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation