Incidental Mutation 'R5200:Cfap45'
| ID |
400646 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap45
|
| Ensembl Gene |
ENSMUSG00000026546 |
| Gene Name |
cilia and flagella associated protein 45 |
| Synonyms |
1700028D05Rik, Nesg1, Ccdc19 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.715)
|
| Stock # |
R5200 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
172348697-172373437 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 172372696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 464
(Q464*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085894]
[ENSMUST00000160303]
|
| AlphaFold |
Q9D9U9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000085894
AA Change: Q464*
|
| SMART Domains |
Protein: ENSMUSP00000083057
Gene: ENSMUSG00000026546
AA Change: Q464*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
29 |
N/A |
INTRINSIC |
|
Pfam:TPH
|
187 |
532 |
1.5e-85 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132370
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140307
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160303
|
| SMART Domains |
Protein: ENSMUSP00000124646
Gene: ENSMUSG00000026546
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Trichoplein
|
1 |
64 |
1.9e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169111
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
T |
C |
5: 4,010,734 (GRCm39) |
V497A |
probably benign |
Het |
| Alx3 |
T |
C |
3: 107,507,980 (GRCm39) |
F163S |
possibly damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,798,014 (GRCm39) |
R997G |
probably benign |
Het |
| Arfgef2 |
T |
C |
2: 166,702,604 (GRCm39) |
S848P |
probably benign |
Het |
| Atp11b |
A |
G |
3: 35,891,156 (GRCm39) |
I810V |
probably benign |
Het |
| C1ql4 |
T |
G |
15: 98,982,718 (GRCm39) |
I212L |
probably benign |
Het |
| Cep63 |
T |
C |
9: 102,475,387 (GRCm39) |
Y443C |
probably benign |
Het |
| Clcn3 |
T |
C |
8: 61,376,039 (GRCm39) |
K618R |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dnaaf4 |
T |
C |
9: 72,879,713 (GRCm39) |
S418P |
probably damaging |
Het |
| H2-M10.2 |
T |
G |
17: 36,595,641 (GRCm39) |
R216S |
probably benign |
Het |
| Hook1 |
A |
G |
4: 95,881,367 (GRCm39) |
D113G |
probably damaging |
Het |
| Ift122 |
A |
G |
6: 115,897,340 (GRCm39) |
E914G |
probably damaging |
Het |
| Insr |
A |
G |
8: 3,248,059 (GRCm39) |
|
probably null |
Het |
| Itpr2 |
A |
T |
6: 146,045,605 (GRCm39) |
|
probably null |
Het |
| Myo6 |
C |
T |
9: 80,183,656 (GRCm39) |
Q684* |
probably null |
Het |
| Nrde2 |
T |
A |
12: 100,096,756 (GRCm39) |
I1015F |
possibly damaging |
Het |
| Or12e9 |
T |
A |
2: 87,202,446 (GRCm39) |
V190E |
probably damaging |
Het |
| Or2d4 |
G |
A |
7: 106,544,187 (GRCm39) |
T7I |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pappa |
A |
T |
4: 65,074,076 (GRCm39) |
N210I |
probably damaging |
Het |
| Pax4 |
G |
A |
6: 28,445,138 (GRCm39) |
P179L |
probably damaging |
Het |
| Pcx |
G |
A |
19: 4,668,532 (GRCm39) |
D656N |
probably damaging |
Het |
| Pms1 |
T |
A |
1: 53,245,916 (GRCm39) |
H541L |
probably benign |
Het |
| Pten |
C |
T |
19: 32,777,291 (GRCm39) |
P95L |
probably damaging |
Het |
| Rsrc2 |
G |
A |
5: 123,877,562 (GRCm39) |
R140* |
probably null |
Het |
| Shc3 |
T |
C |
13: 51,670,601 (GRCm39) |
M49V |
probably damaging |
Het |
| Snap91 |
C |
G |
9: 86,697,497 (GRCm39) |
K288N |
probably damaging |
Het |
| Spag17 |
C |
T |
3: 99,970,787 (GRCm39) |
Q1324* |
probably null |
Het |
| Tasor |
A |
G |
14: 27,151,183 (GRCm39) |
E53G |
probably benign |
Het |
| Tfr2 |
A |
G |
5: 137,569,242 (GRCm39) |
|
probably benign |
Het |
| Tgfbrap1 |
A |
T |
1: 43,114,803 (GRCm39) |
I99K |
probably damaging |
Het |
| Tmem38a |
T |
A |
8: 73,333,878 (GRCm39) |
V119E |
probably damaging |
Het |
| Tmtc4 |
T |
G |
14: 123,182,969 (GRCm39) |
D243A |
probably benign |
Het |
| Tnc |
A |
T |
4: 63,889,515 (GRCm39) |
S1755T |
probably damaging |
Het |
| Trim67 |
T |
C |
8: 125,551,589 (GRCm39) |
S590P |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,590,287 (GRCm39) |
T12814S |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,150,923 (GRCm39) |
S708T |
probably benign |
Het |
| Vmn2r69 |
A |
T |
7: 85,055,717 (GRCm39) |
F807Y |
probably damaging |
Het |
| Vmn2r97 |
C |
T |
17: 19,148,615 (GRCm39) |
P170L |
probably damaging |
Het |
| Zfp612 |
C |
T |
8: 110,816,532 (GRCm39) |
Q580* |
probably null |
Het |
|
| Other mutations in Cfap45 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Cfap45
|
APN |
1 |
172,362,912 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01936:Cfap45
|
APN |
1 |
172,361,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03235:Cfap45
|
APN |
1 |
172,366,060 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0194:Cfap45
|
UTSW |
1 |
172,368,894 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0883:Cfap45
|
UTSW |
1 |
172,359,756 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1130:Cfap45
|
UTSW |
1 |
172,373,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1168:Cfap45
|
UTSW |
1 |
172,373,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1356:Cfap45
|
UTSW |
1 |
172,355,430 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1522:Cfap45
|
UTSW |
1 |
172,368,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1921:Cfap45
|
UTSW |
1 |
172,372,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1922:Cfap45
|
UTSW |
1 |
172,372,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2203:Cfap45
|
UTSW |
1 |
172,359,728 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2204:Cfap45
|
UTSW |
1 |
172,359,728 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2205:Cfap45
|
UTSW |
1 |
172,359,728 (GRCm39) |
missense |
probably benign |
0.28 |
|
R3156:Cfap45
|
UTSW |
1 |
172,373,291 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4059:Cfap45
|
UTSW |
1 |
172,366,056 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4151:Cfap45
|
UTSW |
1 |
172,359,788 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4445:Cfap45
|
UTSW |
1 |
172,362,794 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4548:Cfap45
|
UTSW |
1 |
172,372,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4582:Cfap45
|
UTSW |
1 |
172,357,479 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4909:Cfap45
|
UTSW |
1 |
172,357,443 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5800:Cfap45
|
UTSW |
1 |
172,366,167 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6520:Cfap45
|
UTSW |
1 |
172,368,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6662:Cfap45
|
UTSW |
1 |
172,357,417 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7378:Cfap45
|
UTSW |
1 |
172,365,910 (GRCm39) |
splice site |
probably null |
|
|
R7390:Cfap45
|
UTSW |
1 |
172,368,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7468:Cfap45
|
UTSW |
1 |
172,362,877 (GRCm39) |
nonsense |
probably null |
|
|
R7545:Cfap45
|
UTSW |
1 |
172,366,163 (GRCm39) |
missense |
probably benign |
|
|
R7988:Cfap45
|
UTSW |
1 |
172,357,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8212:Cfap45
|
UTSW |
1 |
172,369,067 (GRCm39) |
splice site |
probably null |
|
|
R8272:Cfap45
|
UTSW |
1 |
172,355,406 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8939:Cfap45
|
UTSW |
1 |
172,372,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9461:Cfap45
|
UTSW |
1 |
172,362,894 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1176:Cfap45
|
UTSW |
1 |
172,372,851 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAATGTATTTGGGTCTGTCCG -3'
(R):5'- ACGTCACCTCTTTGGGAAAG -3'
Sequencing Primer
(F):5'- TCTGTCCGGGGAGAGGAG -3'
(R):5'- AGCGCACCTCAGCTCTTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation