Incidental Mutation 'R7962:Cfap70'
| ID |
650182 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R7962 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
20444261-20502294 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 20486854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 275
(T275M)
|
| 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: T275M
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000022348
Gene: ENSMUSG00000039543
AA Change: T275M
| 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: T275M
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000022349
Gene: ENSMUSG00000039543
AA Change: T275M
| 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: T275M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000056869
Gene: ENSMUSG00000039543
AA Change: T275M
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
G |
10: 14,296,428 (GRCm39) |
F991L |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,990,164 (GRCm39) |
D3816G |
unknown |
Het |
| Arhgdig |
T |
C |
17: 26,418,608 (GRCm39) |
T153A |
probably damaging |
Het |
| Ash2l |
T |
C |
8: 26,329,792 (GRCm39) |
D122G |
probably damaging |
Het |
| Bora |
A |
G |
14: 99,310,162 (GRCm39) |
K497R |
probably benign |
Het |
| Btbd9 |
T |
C |
17: 30,736,177 (GRCm39) |
H312R |
probably damaging |
Het |
| Cbr2 |
T |
C |
11: 120,620,609 (GRCm39) |
D225G |
probably benign |
Het |
| Cemip |
C |
A |
7: 83,652,616 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,622,421 (GRCm39) |
D548G |
possibly damaging |
Het |
| Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
| Cyp3a44 |
T |
A |
5: 145,738,135 (GRCm39) |
I57L |
probably benign |
Het |
| Dbx2 |
C |
T |
15: 95,552,199 (GRCm39) |
G149S |
probably benign |
Het |
| Dennd2a |
A |
G |
6: 39,457,207 (GRCm39) |
V745A |
possibly damaging |
Het |
| Dock10 |
A |
T |
1: 80,564,085 (GRCm39) |
S509R |
possibly damaging |
Het |
| Enpp3 |
T |
C |
10: 24,660,752 (GRCm39) |
Y630C |
probably damaging |
Het |
| Eomes |
C |
T |
9: 118,307,574 (GRCm39) |
|
probably benign |
Het |
| Fchsd1 |
A |
T |
18: 38,097,212 (GRCm39) |
V385E |
probably damaging |
Het |
| Flg |
A |
T |
3: 93,193,984 (GRCm39) |
H34L |
unknown |
Het |
| Frs3 |
G |
T |
17: 48,010,463 (GRCm39) |
E32D |
possibly damaging |
Het |
| Gm14443 |
C |
T |
2: 175,012,035 (GRCm39) |
C137Y |
probably benign |
Het |
| H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
| Havcr1 |
T |
A |
11: 46,643,402 (GRCm39) |
C107* |
probably null |
Het |
| Hectd4 |
C |
T |
5: 121,448,692 (GRCm39) |
R347W |
probably damaging |
Het |
| Hspbp1 |
A |
G |
7: 4,684,841 (GRCm39) |
|
probably null |
Het |
| Irs1 |
C |
T |
1: 82,266,443 (GRCm39) |
R591H |
possibly damaging |
Het |
| Kif5b |
A |
G |
18: 6,241,040 (GRCm39) |
V23A |
probably benign |
Het |
| Myo1e |
A |
T |
9: 70,242,501 (GRCm39) |
I339F |
possibly damaging |
Het |
| Nkx2-5 |
T |
C |
17: 27,058,150 (GRCm39) |
Y268C |
probably damaging |
Het |
| Or7g12 |
T |
C |
9: 18,899,952 (GRCm39) |
S223P |
probably damaging |
Het |
| Polrmt |
T |
C |
10: 79,574,623 (GRCm39) |
M857V |
probably damaging |
Het |
| Prkd3 |
T |
A |
17: 79,315,691 (GRCm39) |
M1L |
not run |
Het |
| Prss3b |
A |
C |
6: 41,012,387 (GRCm39) |
F9C |
probably benign |
Het |
| Psmc3 |
T |
A |
2: 90,887,007 (GRCm39) |
V202E |
possibly damaging |
Het |
| Rab3d |
G |
A |
9: 21,826,229 (GRCm39) |
R93C |
probably damaging |
Het |
| Rasgrf2 |
A |
C |
13: 92,167,300 (GRCm39) |
Y258D |
probably damaging |
Het |
| Rassf8 |
G |
A |
6: 145,761,669 (GRCm39) |
|
probably null |
Het |
| Rcbtb1 |
A |
C |
14: 59,459,016 (GRCm39) |
S199R |
probably benign |
Het |
| Rif1 |
T |
G |
2: 51,964,288 (GRCm39) |
V45G |
probably damaging |
Het |
| Riok3 |
G |
A |
18: 12,269,776 (GRCm39) |
G69E |
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,158,786 (GRCm39) |
L378P |
probably damaging |
Het |
| Sil1 |
A |
T |
18: 35,481,719 (GRCm39) |
N113K |
probably benign |
Het |
| Slc35c2 |
C |
T |
2: 165,119,462 (GRCm39) |
D293N |
probably damaging |
Het |
| Slc37a3 |
A |
T |
6: 39,324,325 (GRCm39) |
S308T |
possibly damaging |
Het |
| Smarca5 |
A |
T |
8: 81,463,388 (GRCm39) |
V60E |
probably benign |
Het |
| Smok3c |
T |
A |
5: 138,063,341 (GRCm39) |
V276D |
probably damaging |
Het |
| Snx29 |
G |
A |
16: 11,231,221 (GRCm39) |
|
probably null |
Het |
| Spata24 |
T |
C |
18: 35,795,093 (GRCm39) |
E30G |
probably damaging |
Het |
| Stard13 |
T |
A |
5: 150,975,838 (GRCm39) |
I777F |
probably damaging |
Het |
| Synpo2 |
A |
G |
3: 123,029,635 (GRCm39) |
C8R |
probably benign |
Het |
| Tmem104 |
T |
C |
11: 115,134,307 (GRCm39) |
V281A |
probably damaging |
Het |
| Tmprss11a |
C |
T |
5: 86,567,879 (GRCm39) |
G283R |
probably damaging |
Het |
| Trpc2 |
G |
A |
7: 101,738,388 (GRCm39) |
V457M |
probably benign |
Het |
| Usp53 |
A |
T |
3: 122,728,000 (GRCm39) |
S861T |
possibly damaging |
Het |
| Uty |
G |
T |
Y: 1,154,210 (GRCm39) |
S738* |
probably null |
Het |
| Wdr17 |
C |
T |
8: 55,113,806 (GRCm39) |
|
probably null |
Het |
| Wdr7 |
A |
T |
18: 64,037,157 (GRCm39) |
S1194C |
probably damaging |
Het |
| Zyx |
A |
C |
6: 42,333,505 (GRCm39) |
D477A |
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 |
|
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 |
|
|
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'- CTAGGGCTTCTGCTATCAGC -3'
(R):5'- TGCATAAACACTTGGCGTTC -3'
Sequencing Primer
(F):5'- TGTTAAGCGGATGCAGACAG -3'
(R):5'- CGTCATATACAGGAACGC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation