Incidental Mutation 'R6464:Cfap70'
| ID |
517840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap70
|
| Ensembl Gene |
ENSMUSG00000039543 |
| Gene Name |
cilia and flagella associated protein 70 |
| Synonyms |
5330402L21Rik, Ttc18 |
| MMRRC Submission |
044597-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R6464 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
20444261-20502294 bp(-) (GRCm39) |
| Type of Mutation |
splice site (51 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 20451107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022348]
[ENSMUST00000022349]
[ENSMUST00000056073]
|
| AlphaFold |
D3YVL2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022348
|
| SMART Domains |
Protein: ENSMUSP00000022348
Gene: ENSMUSG00000039543
| 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 null
Transcript: ENSMUST00000022349
|
| SMART Domains |
Protein: ENSMUSP00000022349
Gene: ENSMUSG00000039543
| 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 null
Transcript: ENSMUST00000056073
|
| SMART Domains |
Protein: ENSMUSP00000056869
Gene: ENSMUSG00000039543
| 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: ENSMUST00000125558
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
100% (48/48) |
| 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 |
|---|
| Abcc1 |
T |
A |
16: 14,265,354 (GRCm39) |
S769T |
probably damaging |
Het |
| Apoe |
G |
A |
7: 19,431,461 (GRCm39) |
T52M |
probably damaging |
Het |
| Arhgef10l |
A |
C |
4: 140,314,126 (GRCm39) |
M230R |
probably benign |
Het |
| Cdkl4 |
A |
T |
17: 80,832,781 (GRCm39) |
I321N |
probably benign |
Het |
| Ceacam5 |
T |
C |
7: 17,481,391 (GRCm39) |
|
probably null |
Het |
| Clasp2 |
A |
G |
9: 113,602,785 (GRCm39) |
Y195C |
probably damaging |
Het |
| Clip2 |
T |
C |
5: 134,520,779 (GRCm39) |
I999V |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 116,112,138 (GRCm39) |
D476G |
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,666,152 (GRCm39) |
M1I |
probably null |
Het |
| Cyp27a1 |
T |
C |
1: 74,775,047 (GRCm39) |
V292A |
possibly damaging |
Het |
| Cyp2c29 |
A |
G |
19: 39,317,669 (GRCm39) |
Y385C |
probably damaging |
Het |
| Dsg3 |
A |
C |
18: 20,666,583 (GRCm39) |
R597S |
probably benign |
Het |
| Fam131c |
T |
C |
4: 141,109,653 (GRCm39) |
I95T |
probably damaging |
Het |
| Fam13b |
A |
T |
18: 34,606,684 (GRCm39) |
C302* |
probably null |
Het |
| Fkbp15 |
T |
C |
4: 62,226,315 (GRCm39) |
K745E |
possibly damaging |
Het |
| Flg |
T |
A |
3: 93,188,688 (GRCm39) |
|
probably benign |
Het |
| Gm11559 |
T |
C |
11: 99,755,542 (GRCm39) |
C64R |
unknown |
Het |
| Helt |
T |
C |
8: 46,745,571 (GRCm39) |
D104G |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,876,862 (GRCm39) |
T1211A |
probably benign |
Het |
| Ifna9 |
T |
C |
4: 88,510,487 (GRCm39) |
R46G |
possibly damaging |
Het |
| Kif20b |
G |
A |
19: 34,911,841 (GRCm39) |
V235I |
probably benign |
Het |
| Kif7 |
A |
G |
7: 79,363,842 (GRCm39) |
V22A |
possibly damaging |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Lipf |
A |
T |
19: 33,950,944 (GRCm39) |
Y305F |
probably benign |
Het |
| Lpar1 |
A |
G |
4: 58,486,875 (GRCm39) |
L132P |
possibly damaging |
Het |
| Magi1 |
A |
T |
6: 93,676,770 (GRCm39) |
V834E |
probably damaging |
Het |
| Meltf |
T |
C |
16: 31,709,594 (GRCm39) |
Y432H |
probably benign |
Het |
| Mroh2a |
G |
C |
1: 88,185,524 (GRCm39) |
E1510D |
probably damaging |
Het |
| Myo1f |
T |
C |
17: 33,795,621 (GRCm39) |
L59P |
probably damaging |
Het |
| Naa25 |
G |
A |
5: 121,556,024 (GRCm39) |
D271N |
probably damaging |
Het |
| Or10ag55-ps1 |
A |
T |
2: 87,139,951 (GRCm39) |
I273F |
probably damaging |
Het |
| Or8u3-ps |
A |
T |
2: 85,952,752 (GRCm39) |
I162F |
possibly damaging |
Het |
| Otoa |
A |
G |
7: 120,701,828 (GRCm39) |
Q169R |
probably damaging |
Het |
| Pde4dip |
C |
T |
3: 97,617,660 (GRCm39) |
D1723N |
probably damaging |
Het |
| Ptdss2 |
T |
C |
7: 140,732,124 (GRCm39) |
V175A |
probably damaging |
Het |
| Rdh8 |
G |
T |
9: 20,734,696 (GRCm39) |
R121L |
probably damaging |
Het |
| Rpl23 |
T |
C |
11: 97,669,111 (GRCm39) |
|
probably null |
Het |
| Scn5a |
T |
C |
9: 119,363,646 (GRCm39) |
D498G |
probably damaging |
Het |
| Slc39a14 |
G |
C |
14: 70,544,177 (GRCm39) |
L470V |
probably damaging |
Het |
| Smok2a |
C |
T |
17: 13,445,317 (GRCm39) |
A298V |
probably damaging |
Het |
| Tesk2 |
A |
C |
4: 116,660,046 (GRCm39) |
D388A |
probably damaging |
Het |
| Tnik |
G |
A |
3: 28,666,119 (GRCm39) |
|
probably null |
Het |
| Ube3a |
T |
A |
7: 58,925,931 (GRCm39) |
Y236* |
probably null |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Vinac1 |
T |
C |
2: 128,881,465 (GRCm39) |
T154A |
possibly damaging |
Het |
| Vmn1r74 |
A |
T |
7: 11,581,131 (GRCm39) |
I144L |
possibly damaging |
Het |
| Vmn2r1 |
G |
A |
3: 64,008,766 (GRCm39) |
D482N |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,616,363 (GRCm39) |
|
probably null |
Het |
| Wdr97 |
A |
G |
15: 76,246,977 (GRCm39) |
T1413A |
probably benign |
Het |
| Zfp703 |
C |
G |
8: 27,469,355 (GRCm39) |
P340A |
probably damaging |
Het |
| Znfx1 |
T |
C |
2: 166,888,842 (GRCm39) |
S789G |
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 |
|
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 |
|
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'- ACACAGGCTAGCAGTCTCTG -3'
(R):5'- GCACAGTGCAGTCATTCTTATGTTC -3'
Sequencing Primer
(F):5'- TCTGAGATGTGGCACCACTGATC -3'
(R):5'- TGCTGGCACATGAGCTG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation