Incidental Mutation 'R3156:Cfap45'
ID |
263486 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap45
|
Ensembl Gene |
ENSMUSG00000026546 |
Gene Name |
cilia and flagella associated protein 45 |
Synonyms |
1700028D05Rik, Nesg1, Ccdc19 |
MMRRC Submission |
040607-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.642)
|
Stock # |
R3156 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
172348697-172373437 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 172373291 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 543
(N543Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083057
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085894]
|
AlphaFold |
Q9D9U9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085894
AA Change: N543Y
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000083057 Gene: ENSMUSG00000026546 AA Change: N543Y
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 |
noncoding transcript
Transcript: ENSMUST00000169111
|
Meta Mutation Damage Score |
0.0692 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
98% (39/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933407L21Rik |
T |
C |
1: 85,859,104 (GRCm39) |
|
probably benign |
Het |
Adra2b |
T |
C |
2: 127,205,570 (GRCm39) |
L29P |
probably damaging |
Het |
Anxa9 |
A |
T |
3: 95,209,716 (GRCm39) |
D134E |
probably benign |
Het |
Atad1 |
A |
T |
19: 32,684,355 (GRCm39) |
N14K |
probably benign |
Het |
Cbl |
T |
C |
9: 44,070,147 (GRCm39) |
I533M |
possibly damaging |
Het |
Cdca2 |
T |
C |
14: 67,935,612 (GRCm39) |
N368D |
possibly damaging |
Het |
Col4a2 |
T |
A |
8: 11,363,414 (GRCm39) |
|
probably benign |
Het |
Dis3l |
T |
C |
9: 64,219,032 (GRCm39) |
T633A |
probably benign |
Het |
Dnah5 |
G |
A |
15: 28,438,237 (GRCm39) |
|
probably benign |
Het |
Fut2 |
A |
T |
7: 45,300,091 (GRCm39) |
L227Q |
probably damaging |
Het |
Gcnt2 |
T |
C |
13: 41,014,654 (GRCm39) |
V275A |
probably benign |
Het |
Glrp1 |
C |
A |
1: 88,430,976 (GRCm39) |
Q131H |
unknown |
Het |
Gm6871 |
T |
C |
7: 41,223,079 (GRCm39) |
N3S |
probably benign |
Het |
Hmgcs1 |
C |
T |
13: 120,166,614 (GRCm39) |
T402I |
probably benign |
Het |
Hps6 |
A |
G |
19: 45,992,180 (GRCm39) |
D39G |
probably damaging |
Het |
Mab21l4 |
T |
A |
1: 93,087,764 (GRCm39) |
I30F |
possibly damaging |
Het |
Mycbp2 |
A |
T |
14: 103,446,179 (GRCm39) |
|
probably benign |
Het |
Myh6 |
A |
G |
14: 55,182,125 (GRCm39) |
I1761T |
probably damaging |
Het |
Neo1 |
T |
C |
9: 58,796,262 (GRCm39) |
|
probably null |
Het |
Or4k15c |
T |
C |
14: 50,321,982 (GRCm39) |
D52G |
probably benign |
Het |
Or7g27 |
A |
G |
9: 19,250,720 (GRCm39) |
|
probably null |
Het |
Patj |
A |
G |
4: 98,562,465 (GRCm39) |
E1478G |
probably damaging |
Het |
Paxbp1 |
T |
C |
16: 90,832,878 (GRCm39) |
T304A |
probably benign |
Het |
Rbp3 |
A |
T |
14: 33,679,071 (GRCm39) |
K1006N |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Ror2 |
G |
T |
13: 53,271,400 (GRCm39) |
N306K |
probably damaging |
Het |
Rusc1 |
T |
C |
3: 88,999,038 (GRCm39) |
D248G |
probably benign |
Het |
Secisbp2 |
A |
G |
13: 51,816,711 (GRCm39) |
T288A |
probably benign |
Het |
Setbp1 |
A |
G |
18: 78,902,518 (GRCm39) |
V383A |
probably benign |
Het |
Sez6 |
T |
A |
11: 77,844,605 (GRCm39) |
S143T |
possibly damaging |
Het |
Slc5a9 |
A |
T |
4: 111,747,421 (GRCm39) |
I322N |
possibly damaging |
Het |
Szt2 |
A |
G |
4: 118,260,016 (GRCm39) |
|
probably null |
Het |
Tex2 |
A |
G |
11: 106,424,695 (GRCm39) |
|
probably null |
Het |
Tonsl |
A |
T |
15: 76,523,721 (GRCm39) |
L64Q |
probably damaging |
Het |
Triml2 |
A |
G |
8: 43,640,716 (GRCm39) |
N191D |
probably benign |
Het |
Trpc1 |
C |
T |
9: 95,603,185 (GRCm39) |
|
probably null |
Het |
Yeats4 |
C |
T |
10: 117,058,186 (GRCm39) |
V22I |
probably benign |
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 |
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 |
R5200:Cfap45
|
UTSW |
1 |
172,372,696 (GRCm39) |
nonsense |
probably null |
|
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'- AACCAGTAGGAACGGCTTGG -3'
(R):5'- GGTCCACGGTAATTTATCTTGATC -3'
Sequencing Primer
(F):5'- TAGGAACGGCTTGGGGTAC -3'
(R):5'- GATCTACCTTCAGTGCCCATTGG -3'
|
Posted On |
2015-02-05 |