Incidental Mutation 'R6915:Cfap70'
ID |
539303 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap70
|
Ensembl Gene |
ENSMUSG00000039543 |
Gene Name |
cilia and flagella associated protein 70 |
Synonyms |
5330402L21Rik, Ttc18 |
MMRRC Submission |
045036-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R6915 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
20444261-20502294 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 20459153 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 693
(I693F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022348
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022348]
[ENSMUST00000022349]
[ENSMUST00000056073]
|
AlphaFold |
D3YVL2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022348
AA Change: I693F
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000022348 Gene: ENSMUSG00000039543 AA Change: I693F
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: I681F
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000022349 Gene: ENSMUSG00000039543 AA Change: I681F
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: I737F
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000056869 Gene: ENSMUSG00000039543 AA Change: I737F
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: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
Validation Efficiency |
97% (63/65) |
Allele List at MGI |
All alleles(17) : Targeted(2) Gene trapped(15)
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck1 |
C |
A |
12: 88,422,390 (GRCm39) |
L334I |
probably damaging |
Het |
Akap9 |
T |
A |
5: 4,010,551 (GRCm39) |
M436K |
probably benign |
Het |
Ankmy1 |
A |
C |
1: 92,816,173 (GRCm39) |
F314V |
probably null |
Het |
Arid5b |
G |
A |
10: 68,022,042 (GRCm39) |
Q183* |
probably null |
Het |
Atp8b4 |
A |
T |
2: 126,200,834 (GRCm39) |
L778* |
probably null |
Het |
BC024139 |
G |
T |
15: 76,004,221 (GRCm39) |
N739K |
probably benign |
Het |
Carns1 |
T |
G |
19: 4,219,912 (GRCm39) |
H441P |
probably benign |
Het |
Cby2 |
T |
A |
14: 75,830,098 (GRCm39) |
T32S |
probably benign |
Het |
Ccdc121rt3 |
A |
T |
5: 112,502,523 (GRCm39) |
W394R |
probably damaging |
Het |
Cldn3 |
A |
G |
5: 135,015,426 (GRCm39) |
Q43R |
probably damaging |
Het |
Col7a1 |
C |
T |
9: 108,796,686 (GRCm39) |
P1608L |
probably benign |
Het |
Cr2 |
T |
A |
1: 194,853,454 (GRCm39) |
Y28F |
probably benign |
Het |
Cyp2c38 |
T |
A |
19: 39,424,512 (GRCm39) |
I269F |
probably damaging |
Het |
Dapk1 |
A |
T |
13: 60,844,256 (GRCm39) |
I92F |
probably damaging |
Het |
Dennd4a |
T |
A |
9: 64,759,771 (GRCm39) |
L292* |
probably null |
Het |
Dhx38 |
T |
C |
8: 110,286,231 (GRCm39) |
E353G |
probably benign |
Het |
Dnm3 |
T |
C |
1: 162,145,966 (GRCm39) |
|
probably null |
Het |
Dzip3 |
T |
C |
16: 48,762,488 (GRCm39) |
I794V |
possibly damaging |
Het |
Eif2b5 |
T |
A |
16: 20,321,500 (GRCm39) |
V351D |
possibly damaging |
Het |
Epg5 |
T |
A |
18: 78,022,380 (GRCm39) |
V1041E |
probably benign |
Het |
Exoc4 |
A |
G |
6: 33,898,388 (GRCm39) |
K869R |
possibly damaging |
Het |
Fat3 |
C |
A |
9: 16,289,044 (GRCm39) |
V160F |
probably benign |
Het |
Gak |
A |
T |
5: 108,750,816 (GRCm39) |
Y365N |
probably benign |
Het |
Ghrhr |
T |
A |
6: 55,360,104 (GRCm39) |
|
probably null |
Het |
Gm21738 |
A |
G |
14: 19,415,933 (GRCm38) |
M202T |
probably benign |
Het |
Havcr2 |
C |
T |
11: 46,366,738 (GRCm39) |
S177L |
probably benign |
Het |
Hkdc1 |
G |
C |
10: 62,237,711 (GRCm39) |
R353G |
possibly damaging |
Het |
Ifi208 |
G |
A |
1: 173,510,444 (GRCm39) |
G200S |
probably damaging |
Het |
Klhl20 |
T |
C |
1: 160,921,266 (GRCm39) |
D63G |
possibly damaging |
Het |
Lair1 |
A |
T |
7: 4,058,952 (GRCm39) |
V12E |
possibly damaging |
Het |
Lipo3 |
T |
C |
19: 33,562,293 (GRCm39) |
N26D |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,900,629 (GRCm39) |
D3168E |
probably benign |
Het |
Map6 |
G |
A |
7: 98,917,454 (GRCm39) |
A76T |
probably damaging |
Het |
Mcoln3 |
A |
T |
3: 145,843,011 (GRCm39) |
|
probably null |
Het |
Muc4 |
T |
C |
16: 32,587,312 (GRCm39) |
F2718L |
probably benign |
Het |
Nek11 |
C |
G |
9: 105,270,256 (GRCm39) |
|
probably benign |
Het |
Or10n7-ps1 |
T |
C |
9: 39,597,832 (GRCm39) |
E136G |
unknown |
Het |
Or2z8 |
C |
A |
8: 72,811,574 (GRCm39) |
L17I |
probably benign |
Het |
Or4d6 |
A |
G |
19: 12,086,490 (GRCm39) |
V140A |
probably benign |
Het |
Pcdh15 |
A |
T |
10: 74,479,641 (GRCm39) |
E846V |
probably benign |
Het |
Pcdhga8 |
C |
T |
18: 37,858,998 (GRCm39) |
T18M |
probably benign |
Het |
Per3 |
T |
C |
4: 151,128,106 (GRCm39) |
M61V |
possibly damaging |
Het |
Pfas |
C |
T |
11: 68,883,007 (GRCm39) |
R759Q |
probably benign |
Het |
Pitpnm1 |
A |
G |
19: 4,156,947 (GRCm39) |
Y490C |
possibly damaging |
Het |
Plcb4 |
A |
T |
2: 135,789,035 (GRCm39) |
I272F |
possibly damaging |
Het |
Ppp1r3b |
A |
G |
8: 35,851,821 (GRCm39) |
Y220C |
probably damaging |
Het |
Prkce |
G |
C |
17: 86,800,835 (GRCm39) |
G417A |
probably damaging |
Het |
Ptar1 |
A |
G |
19: 23,680,501 (GRCm39) |
N106D |
probably damaging |
Het |
Rbm15 |
C |
A |
3: 107,239,627 (GRCm39) |
R257L |
probably benign |
Het |
Rptor |
T |
G |
11: 119,647,171 (GRCm39) |
M254R |
probably damaging |
Het |
Runx1t1 |
T |
A |
4: 13,865,257 (GRCm39) |
W350R |
probably damaging |
Het |
Ryr2 |
T |
G |
13: 11,760,487 (GRCm39) |
Y1532S |
probably damaging |
Het |
Serpina1a |
C |
A |
12: 103,820,110 (GRCm39) |
V379L |
possibly damaging |
Het |
Sox8 |
C |
T |
17: 25,786,888 (GRCm39) |
V272I |
probably damaging |
Het |
Stard9 |
C |
T |
2: 120,533,111 (GRCm39) |
H3123Y |
probably benign |
Het |
Taar9 |
C |
T |
10: 23,984,910 (GRCm39) |
E175K |
possibly damaging |
Het |
Tinag |
T |
A |
9: 76,908,897 (GRCm39) |
Y348F |
probably damaging |
Het |
Tktl2 |
T |
C |
8: 66,965,687 (GRCm39) |
I415T |
probably damaging |
Het |
Tm7sf2 |
G |
T |
19: 6,118,342 (GRCm39) |
R718S |
probably damaging |
Het |
Tmem229a |
G |
T |
6: 24,954,657 (GRCm39) |
Q366K |
probably benign |
Het |
Txndc2 |
T |
C |
17: 65,945,286 (GRCm39) |
D297G |
probably benign |
Het |
Ulk4 |
A |
G |
9: 121,087,886 (GRCm39) |
F269L |
probably benign |
Het |
Vps39 |
A |
T |
2: 120,151,512 (GRCm39) |
Y738* |
probably null |
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 |
|
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'- GCTGACTTCCCACCATCATAG -3'
(R):5'- GCAACTCGACCTTGTCTTTG -3'
Sequencing Primer
(F):5'- TGGTGGCTCACAACCATC -3'
(R):5'- TGCTCCATTGAAGCACCATGG -3'
|
Posted On |
2018-11-06 |