Incidental Mutation 'R1130:Cfap45'
| ID |
98020 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap45
|
| Ensembl Gene |
ENSMUSG00000026546 |
| Gene Name |
cilia and flagella associated protein 45 |
| Synonyms |
1700028D05Rik, Nesg1, Ccdc19 |
| MMRRC Submission |
039203-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.715)
|
| Stock # |
R1130 (G1)
|
| Quality Score |
209 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
172348697-172373437 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 172373264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 534
(Y534H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085894]
|
| AlphaFold |
Q9D9U9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085894
AA Change: Y534H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083057
Gene: ENSMUSG00000026546
AA Change: Y534H
| 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
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
C |
T |
15: 81,943,561 (GRCm39) |
H58Y |
probably benign |
Het |
| Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
| Armc2 |
T |
C |
10: 41,887,830 (GRCm39) |
D51G |
possibly damaging |
Het |
| Aspm |
A |
T |
1: 139,405,572 (GRCm39) |
K1486N |
possibly damaging |
Het |
| Aurka |
A |
T |
2: 172,199,178 (GRCm39) |
|
probably null |
Het |
| Cldn20 |
T |
C |
17: 3,583,243 (GRCm39) |
Y139H |
probably damaging |
Het |
| Defb19 |
C |
A |
2: 152,418,109 (GRCm39) |
E76* |
probably null |
Het |
| Fcho2 |
A |
T |
13: 98,884,797 (GRCm39) |
D423E |
probably damaging |
Het |
| Frem1 |
T |
G |
4: 82,834,865 (GRCm39) |
|
probably null |
Het |
| Gaa |
C |
T |
11: 119,165,509 (GRCm39) |
T333M |
probably damaging |
Het |
| Gm9945 |
T |
A |
11: 53,371,345 (GRCm39) |
|
probably benign |
Het |
| Gml2 |
G |
A |
15: 74,693,195 (GRCm39) |
C66Y |
probably damaging |
Het |
| H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
| Kcnh2 |
G |
A |
5: 24,536,823 (GRCm39) |
R254* |
probably null |
Het |
| Megf10 |
T |
C |
18: 57,395,078 (GRCm39) |
V480A |
probably benign |
Het |
| Nrde2 |
A |
T |
12: 100,091,929 (GRCm39) |
M1152K |
probably damaging |
Het |
| Ociad1 |
T |
C |
5: 73,451,675 (GRCm39) |
S15P |
probably benign |
Het |
| Ptprj |
A |
G |
2: 90,283,765 (GRCm39) |
V803A |
probably damaging |
Het |
| Rxylt1 |
T |
C |
10: 121,931,847 (GRCm39) |
I109V |
possibly damaging |
Het |
| Skint7 |
T |
C |
4: 111,841,355 (GRCm39) |
I265T |
probably benign |
Het |
| Srsf2 |
A |
G |
11: 116,743,009 (GRCm39) |
|
probably benign |
Het |
| Tac2 |
A |
G |
10: 127,565,371 (GRCm39) |
N108D |
possibly 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 |
|
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 |
|
|
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'- TACATCAGCGGTGCCAATGTGC -3'
(R):5'- TTCTTAGCCATGAGCGACAGCC -3'
Sequencing Primer
(F):5'- TGCCAATGTGCCAGCTAGAG -3'
(R):5'- TGGAGCTGTCCCTTAGAGAATAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation