Incidental Mutation 'R3979:Cfap70'
ID |
311205 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap70
|
Ensembl Gene |
ENSMUSG00000039543 |
Gene Name |
cilia and flagella associated protein 70 |
Synonyms |
5330402L21Rik, Ttc18 |
MMRRC Submission |
040942-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R3979 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
20444261-20502294 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 20489787 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 246
(E246D)
|
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: E246D
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000022348 Gene: ENSMUSG00000039543 AA Change: E246D
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: E246D
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000022349 Gene: ENSMUSG00000039543 AA Change: E246D
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: E246D
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000056869 Gene: ENSMUSG00000039543 AA Change: E246D
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: ENSMUST00000141432
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144797
AA Change: E246D
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000116668 Gene: ENSMUSG00000039543 AA Change: E246D
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151077
AA Change: E246D
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000119023 Gene: ENSMUSG00000039543 AA Change: E246D
Domain | Start | End | E-Value | Type |
Blast:C2
|
11 |
122 |
8e-48 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(17) : Targeted(2) Gene trapped(15)
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
A |
G |
2: 69,154,320 (GRCm39) |
V82A |
probably benign |
Het |
Adam28 |
A |
G |
14: 68,848,443 (GRCm39) |
V671A |
probably benign |
Het |
Ak3 |
T |
A |
19: 29,025,118 (GRCm39) |
S38C |
probably damaging |
Het |
Arfgef1 |
A |
G |
1: 10,279,859 (GRCm39) |
V236A |
probably benign |
Het |
Arhgap10 |
T |
C |
8: 78,147,354 (GRCm39) |
N170S |
probably benign |
Het |
B020004C17Rik |
G |
T |
14: 57,254,645 (GRCm39) |
M156I |
possibly damaging |
Het |
Bicral |
T |
A |
17: 47,141,917 (GRCm39) |
M1L |
unknown |
Het |
Bop1 |
A |
G |
15: 76,338,076 (GRCm39) |
L598P |
probably damaging |
Het |
Cachd1 |
A |
T |
4: 100,828,085 (GRCm39) |
D611V |
probably damaging |
Het |
Chl1 |
T |
A |
6: 103,692,245 (GRCm39) |
Y294* |
probably null |
Het |
Chrna2 |
T |
A |
14: 66,386,402 (GRCm39) |
Y183N |
probably damaging |
Het |
Dab2 |
A |
G |
15: 6,464,644 (GRCm39) |
|
probably null |
Het |
Dnajb6 |
T |
C |
5: 29,956,006 (GRCm39) |
F46L |
possibly damaging |
Het |
Exoc7 |
T |
C |
11: 116,187,588 (GRCm39) |
E275G |
probably benign |
Het |
Frem2 |
A |
G |
3: 53,559,491 (GRCm39) |
I1672T |
probably benign |
Het |
Gprc6a |
C |
A |
10: 51,497,197 (GRCm39) |
V449L |
probably benign |
Het |
H2-M10.4 |
A |
G |
17: 36,772,877 (GRCm39) |
V35A |
probably benign |
Het |
Hr |
A |
G |
14: 70,801,024 (GRCm39) |
T699A |
probably benign |
Het |
Iffo1 |
A |
G |
6: 125,137,552 (GRCm39) |
|
probably benign |
Het |
Iqgap1 |
G |
A |
7: 80,409,682 (GRCm39) |
H218Y |
probably damaging |
Het |
Itpr3 |
A |
C |
17: 27,304,105 (GRCm39) |
K109Q |
probably benign |
Het |
Itpr3 |
A |
G |
17: 27,310,546 (GRCm39) |
D443G |
probably damaging |
Het |
Katna1 |
T |
C |
10: 7,628,518 (GRCm39) |
M249T |
probably damaging |
Het |
Klk1b4 |
G |
A |
7: 43,861,017 (GRCm39) |
G220D |
probably damaging |
Het |
Krt24 |
A |
G |
11: 99,173,596 (GRCm39) |
C242R |
probably benign |
Het |
Madd |
G |
A |
2: 91,007,173 (GRCm39) |
T313I |
possibly damaging |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Mical2 |
A |
G |
7: 112,006,885 (GRCm39) |
|
probably null |
Het |
Neil3 |
T |
C |
8: 54,076,699 (GRCm39) |
T79A |
probably damaging |
Het |
Nras |
A |
G |
3: 102,967,541 (GRCm39) |
I46V |
probably benign |
Het |
Or2w1b |
T |
A |
13: 21,300,031 (GRCm39) |
H56Q |
probably benign |
Het |
Or4a66 |
T |
C |
2: 88,530,792 (GRCm39) |
S294G |
probably benign |
Het |
Ppfia2 |
A |
G |
10: 106,666,490 (GRCm39) |
T399A |
possibly damaging |
Het |
Rarres1 |
A |
G |
3: 67,403,143 (GRCm39) |
V86A |
probably benign |
Het |
Rdh19 |
A |
T |
10: 127,685,944 (GRCm39) |
R19W |
possibly damaging |
Het |
Rock2 |
A |
G |
12: 17,022,737 (GRCm39) |
K1059E |
probably damaging |
Het |
Sft2d1rt |
T |
A |
11: 45,942,853 (GRCm39) |
K90M |
probably damaging |
Het |
Sparcl1 |
T |
C |
5: 104,240,647 (GRCm39) |
H259R |
probably benign |
Het |
Spata31d1c |
A |
G |
13: 65,182,974 (GRCm39) |
D172G |
possibly damaging |
Het |
Stab2 |
T |
C |
10: 86,699,320 (GRCm39) |
D515G |
possibly damaging |
Het |
Sycp2l |
A |
G |
13: 41,295,440 (GRCm39) |
I334M |
probably damaging |
Het |
Tas2r103 |
A |
G |
6: 133,013,280 (GRCm39) |
L262P |
probably benign |
Het |
Tasor |
T |
C |
14: 27,199,087 (GRCm39) |
L1335S |
possibly damaging |
Het |
Tcaf2 |
A |
G |
6: 42,619,481 (GRCm39) |
V182A |
probably damaging |
Het |
Tcof1 |
C |
T |
18: 60,964,605 (GRCm39) |
E674K |
possibly damaging |
Het |
Trp63 |
A |
G |
16: 25,639,490 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,575,738 (GRCm39) |
W25052R |
probably damaging |
Het |
Ubr1 |
T |
A |
2: 120,693,168 (GRCm39) |
N1746I |
probably benign |
Het |
Vax2 |
T |
C |
6: 83,714,529 (GRCm39) |
V148A |
probably damaging |
Het |
Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
Vmn2r96 |
T |
A |
17: 18,817,941 (GRCm39) |
I698N |
probably damaging |
Het |
Wdr90 |
A |
G |
17: 26,078,252 (GRCm39) |
V372A |
probably benign |
Het |
Zfp335 |
C |
T |
2: 164,752,558 (GRCm39) |
G62D |
probably benign |
Het |
Zfp563 |
G |
A |
17: 33,324,701 (GRCm39) |
R432H |
probably benign |
Het |
Zhx1 |
T |
C |
15: 57,916,636 (GRCm39) |
T537A |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCAGTTTTGACAAACGGACAGG -3'
(R):5'- CCGCTGGGAAAAGCTCTAAG -3'
Sequencing Primer
(F):5'- TTTTGACAAACGGACAGGGATGTG -3'
(R):5'- GCAGACTTTTTATACATTCCAAAGCC -3'
|
Posted On |
2015-04-29 |