Incidental Mutation 'R0919:Cfap70'
| ID |
82790 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap70
|
| Ensembl Gene |
ENSMUSG00000039543 |
| Gene Name |
cilia and flagella associated protein 70 |
| Synonyms |
5330402L21Rik, Ttc18 |
| MMRRC Submission |
039069-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R0919 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
20444261-20502294 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 20454232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 851
(P851S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022348]
[ENSMUST00000022349]
[ENSMUST00000056073]
|
| AlphaFold |
D3YVL2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022348
AA Change: P824S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000022348
Gene: ENSMUSG00000039543
AA Change: P824S
| 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: P851S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000022349
Gene: ENSMUSG00000039543
AA Change: P851S
| 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: P868S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000056869
Gene: ENSMUSG00000039543
AA Change: P868S
| 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 benign
Transcript: ENSMUST00000144797
AA Change: P873S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116668
Gene: ENSMUSG00000039543
AA Change: P873S
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
96% (43/45) |
| Allele List at MGI |
All alleles(17) : Targeted(2) Gene trapped(15)
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
C |
A |
18: 65,440,544 (GRCm39) |
C283F |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,459,651 (GRCm39) |
R1803G |
probably benign |
Het |
| Anapc4 |
T |
C |
5: 53,012,979 (GRCm39) |
V423A |
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,465,483 (GRCm39) |
I2120T |
possibly damaging |
Het |
| Btaf1 |
T |
A |
19: 36,968,143 (GRCm39) |
H1109Q |
probably benign |
Het |
| Cfap418 |
A |
G |
4: 10,882,462 (GRCm39) |
T124A |
probably benign |
Het |
| Clcf1 |
T |
A |
19: 4,272,252 (GRCm39) |
L103Q |
probably damaging |
Het |
| Col11a2 |
T |
A |
17: 34,278,124 (GRCm39) |
V1032E |
possibly damaging |
Het |
| Cyp2c38 |
T |
G |
19: 39,393,113 (GRCm39) |
D318A |
probably benign |
Het |
| Dbpht2 |
A |
G |
12: 74,345,774 (GRCm39) |
|
noncoding transcript |
Het |
| Dhx34 |
A |
C |
7: 15,935,883 (GRCm39) |
V893G |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,815,828 (GRCm39) |
C3854S |
possibly damaging |
Het |
| Htr1a |
T |
C |
13: 105,581,344 (GRCm39) |
Y195H |
probably damaging |
Het |
| Insr |
A |
G |
8: 3,208,769 (GRCm39) |
S1231P |
probably damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Kpna4 |
A |
T |
3: 68,993,161 (GRCm39) |
|
probably benign |
Het |
| Or52d13 |
A |
G |
7: 103,110,019 (GRCm39) |
I132T |
probably damaging |
Het |
| Or52e8 |
A |
T |
7: 104,624,519 (GRCm39) |
Y228* |
probably null |
Het |
| Or5m3 |
A |
G |
2: 85,838,984 (GRCm39) |
Y288C |
possibly damaging |
Het |
| Osbpl7 |
G |
A |
11: 96,946,927 (GRCm39) |
R239H |
possibly damaging |
Het |
| Prkce |
G |
A |
17: 86,937,588 (GRCm39) |
V674I |
probably benign |
Het |
| Prkrip1 |
T |
C |
5: 136,226,685 (GRCm39) |
M52V |
possibly damaging |
Het |
| Sash1 |
A |
G |
10: 8,605,843 (GRCm39) |
M849T |
probably benign |
Het |
| Scaf8 |
T |
C |
17: 3,247,395 (GRCm39) |
L906S |
probably damaging |
Het |
| Sfmbt2 |
T |
C |
2: 10,582,382 (GRCm39) |
L676P |
probably benign |
Het |
| Sgsm1 |
C |
T |
5: 113,406,708 (GRCm39) |
V923I |
probably damaging |
Het |
| Slc38a3 |
A |
T |
9: 107,533,158 (GRCm39) |
L305Q |
probably damaging |
Het |
| Slc44a5 |
A |
G |
3: 153,949,223 (GRCm39) |
Y232C |
probably damaging |
Het |
| Spag17 |
A |
T |
3: 99,979,259 (GRCm39) |
|
probably benign |
Het |
| Synm |
T |
C |
7: 67,385,095 (GRCm39) |
I414V |
probably damaging |
Het |
| Tbc1d12 |
C |
T |
19: 38,902,493 (GRCm39) |
H551Y |
possibly damaging |
Het |
| Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
| Trpc7 |
C |
T |
13: 56,970,462 (GRCm39) |
|
probably benign |
Het |
| Trpm7 |
G |
A |
2: 126,673,158 (GRCm39) |
R532C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,777,086 (GRCm39) |
K1485* |
probably null |
Het |
| Txn2 |
T |
C |
15: 77,811,949 (GRCm39) |
D69G |
probably damaging |
Het |
| U2af2 |
C |
T |
7: 5,072,433 (GRCm39) |
|
probably benign |
Het |
| Ubn1 |
T |
C |
16: 4,882,255 (GRCm39) |
Y239H |
probably damaging |
Het |
| Ubtf |
A |
G |
11: 102,200,603 (GRCm39) |
|
probably benign |
Het |
| Usp49 |
T |
A |
17: 47,983,376 (GRCm39) |
V127D |
probably benign |
Het |
| Washc2 |
C |
T |
6: 116,185,225 (GRCm39) |
R20W |
probably damaging |
Het |
| Zscan10 |
T |
C |
17: 23,828,981 (GRCm39) |
S476P |
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 |
|
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 |
|
|
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'- GCACGGAGTTTAGCGTTCAGATCC -3'
(R):5'- GAAGGTCCTCCTTATTCACGATGCC -3'
Sequencing Primer
(F):5'- GAAGTGTGGTCAGTATAACTTCG -3'
(R):5'- GATGCCCACCCTCTAGCC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation