Incidental Mutation 'R5800:Cfap45'
ID |
447332 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap45
|
Ensembl Gene |
ENSMUSG00000026546 |
Gene Name |
cilia and flagella associated protein 45 |
Synonyms |
1700028D05Rik, Nesg1, Ccdc19 |
MMRRC Submission |
043389-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.715)
|
Stock # |
R5800 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
172348697-172373437 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 172366167 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 30
(V30E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124646
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085894]
[ENSMUST00000160303]
|
AlphaFold |
Q9D9U9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000085894
AA Change: V340E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000083057 Gene: ENSMUSG00000026546 AA Change: V340E
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 damaging
Transcript: ENSMUST00000160303
AA Change: V30E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124646 Gene: ENSMUSG00000026546 AA Change: V30E
Domain | Start | End | E-Value | Type |
Pfam:Trichoplein
|
1 |
64 |
1.9e-12 |
PFAM |
|
Meta Mutation Damage Score |
0.0875 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
96% (50/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,360,591 (GRCm39) |
V540D |
possibly damaging |
Het |
Adamts8 |
A |
T |
9: 30,865,778 (GRCm39) |
D442V |
probably damaging |
Het |
B3galt9 |
T |
C |
2: 34,728,654 (GRCm39) |
F151S |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 37,106,592 (GRCm39) |
D4974G |
probably damaging |
Het |
Casp4 |
G |
A |
9: 5,308,915 (GRCm39) |
|
probably null |
Het |
Col6a4 |
A |
G |
9: 105,957,474 (GRCm39) |
F117L |
probably damaging |
Het |
Dnah7c |
A |
T |
1: 46,686,175 (GRCm39) |
T1810S |
probably benign |
Het |
Drosha |
C |
T |
15: 12,865,153 (GRCm39) |
T627M |
probably damaging |
Het |
Drosha |
C |
A |
15: 12,902,733 (GRCm39) |
A1001D |
probably damaging |
Het |
Efhc1 |
G |
A |
1: 21,049,005 (GRCm39) |
V473I |
probably benign |
Het |
Ephx2 |
T |
C |
14: 66,344,751 (GRCm39) |
K191R |
probably benign |
Het |
Ero1b |
T |
A |
13: 12,617,190 (GRCm39) |
|
probably null |
Het |
Esyt2 |
A |
T |
12: 116,333,808 (GRCm39) |
D837V |
possibly damaging |
Het |
Fip1l1 |
T |
A |
5: 74,706,742 (GRCm39) |
D126E |
possibly damaging |
Het |
Fyttd1 |
C |
T |
16: 32,711,658 (GRCm39) |
R86C |
probably damaging |
Het |
Gm12888 |
T |
A |
4: 121,176,625 (GRCm39) |
T59S |
probably damaging |
Het |
Gm7353 |
A |
T |
7: 3,160,168 (GRCm39) |
|
noncoding transcript |
Het |
Gpr153 |
C |
T |
4: 152,364,534 (GRCm39) |
Q197* |
probably null |
Het |
Grep1 |
G |
A |
17: 23,936,966 (GRCm39) |
P72S |
probably damaging |
Het |
H2-T23 |
G |
T |
17: 36,342,496 (GRCm39) |
|
probably benign |
Het |
Ighv1-16 |
T |
A |
12: 114,629,531 (GRCm39) |
R85S |
probably benign |
Het |
Ipcef1 |
T |
A |
10: 6,840,569 (GRCm39) |
D376V |
probably damaging |
Het |
Kdm1a |
T |
A |
4: 136,300,381 (GRCm39) |
|
probably null |
Het |
Klk1b27 |
A |
T |
7: 43,705,088 (GRCm39) |
Q85L |
probably benign |
Het |
Krt39 |
A |
T |
11: 99,411,971 (GRCm39) |
D38E |
probably benign |
Het |
L1td1 |
T |
C |
4: 98,621,999 (GRCm39) |
L187P |
possibly damaging |
Het |
Lrrc8b |
C |
T |
5: 105,629,208 (GRCm39) |
S518L |
probably benign |
Het |
Lyg1 |
C |
T |
1: 37,986,034 (GRCm39) |
D176N |
probably damaging |
Het |
Mctp1 |
A |
G |
13: 76,836,678 (GRCm39) |
N82D |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,226,690 (GRCm39) |
|
probably benign |
Het |
Nynrin |
T |
C |
14: 56,108,088 (GRCm39) |
L1065P |
probably damaging |
Het |
Or5b118 |
T |
C |
19: 13,449,260 (GRCm39) |
S309P |
probably benign |
Het |
Pcdh7 |
T |
A |
5: 57,879,567 (GRCm39) |
S1041T |
probably damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,811,302 (GRCm39) |
M1518L |
probably benign |
Het |
Prl8a6 |
G |
T |
13: 27,619,453 (GRCm39) |
Q90K |
probably benign |
Het |
Ptcd1 |
T |
A |
5: 145,096,475 (GRCm39) |
D206V |
probably damaging |
Het |
Rap1gap |
C |
A |
4: 137,447,688 (GRCm39) |
D478E |
probably benign |
Het |
Scn5a |
A |
G |
9: 119,330,732 (GRCm39) |
Y1269H |
probably damaging |
Het |
Sdc2 |
A |
T |
15: 33,028,290 (GRCm39) |
H136L |
probably benign |
Het |
Senp6 |
A |
T |
9: 80,033,715 (GRCm39) |
I120F |
probably damaging |
Het |
Shisa5 |
G |
A |
9: 108,885,162 (GRCm39) |
|
probably null |
Het |
Slc19a1 |
A |
G |
10: 76,878,103 (GRCm39) |
S213G |
probably null |
Het |
Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
Tbc1d20 |
T |
A |
2: 152,150,245 (GRCm39) |
|
probably null |
Het |
Tll2 |
T |
C |
19: 41,093,373 (GRCm39) |
H481R |
probably benign |
Het |
Tmc7 |
A |
G |
7: 118,138,663 (GRCm39) |
V692A |
probably benign |
Het |
Tmem234 |
T |
C |
4: 129,500,924 (GRCm39) |
|
probably null |
Het |
Vmn1r237 |
C |
G |
17: 21,535,069 (GRCm39) |
T264S |
probably benign |
Het |
Vmn2r98 |
A |
T |
17: 19,286,260 (GRCm39) |
T253S |
probably benign |
Het |
Zfyve27 |
T |
C |
19: 42,171,102 (GRCm39) |
Y191H |
probably damaging |
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 |
R5200:Cfap45
|
UTSW |
1 |
172,372,696 (GRCm39) |
nonsense |
probably null |
|
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'- CAGCATGTCAGTAGCTATATGCC -3'
(R):5'- GGGGCGGTGTCTCTAAAATC -3'
Sequencing Primer
(F):5'- ATGTCAGTAGCTATATGCCTTGCC -3'
(R):5'- GGGCGGTGTCTCTAAAATCTATACTC -3'
|
Posted On |
2016-12-15 |