Incidental Mutation 'R0036:Cfap95'
| ID |
15423 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap95
|
| Ensembl Gene |
ENSMUSG00000033053 |
| Gene Name |
cilia and flagella associated protein 95 |
| Synonyms |
1700028P14Rik |
| MMRRC Submission |
038330-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R0036 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
23536124-23630176 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 23593932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100516
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035849]
[ENSMUST00000104916]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000035849
AA Change: V70E
|
| SMART Domains |
Protein: ENSMUSP00000048680
Gene: ENSMUSG00000033053
AA Change: V70E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4572
|
28 |
219 |
1.3e-89 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000104916
|
| SMART Domains |
Protein: ENSMUSP00000100516
Gene: ENSMUSG00000044424
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S7e
|
5 |
189 |
2e-96 |
PFAM |
|
| Meta Mutation Damage Score |
0.2522 |
| Coding Region Coverage |
- 1x: 79.1%
- 3x: 69.3%
- 10x: 43.3%
- 20x: 23.5%
|
| Validation Efficiency |
91% (49/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cfap44 |
A |
G |
16: 44,259,432 (GRCm39) |
E1098G |
possibly damaging |
Het |
| Ctsq |
C |
T |
13: 61,185,485 (GRCm39) |
|
probably null |
Het |
| Dock9 |
C |
T |
14: 121,860,265 (GRCm39) |
V886M |
probably damaging |
Het |
| Eaf2 |
T |
C |
16: 36,621,020 (GRCm39) |
Y224C |
probably benign |
Het |
| Eif5b |
T |
A |
1: 38,058,192 (GRCm39) |
S165T |
probably benign |
Het |
| Eln |
A |
G |
5: 134,739,914 (GRCm39) |
|
probably null |
Het |
| Jakmip1 |
A |
G |
5: 37,291,648 (GRCm39) |
K514R |
probably null |
Het |
| Myo1e |
T |
A |
9: 70,248,590 (GRCm39) |
W435R |
probably damaging |
Het |
| Nadsyn1 |
T |
C |
7: 143,365,028 (GRCm39) |
I226V |
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,184,194 (GRCm39) |
|
probably benign |
Het |
| Phrf1 |
T |
C |
7: 140,841,693 (GRCm39) |
M1435T |
probably damaging |
Het |
| Ppic |
A |
T |
18: 53,542,264 (GRCm39) |
I148N |
probably damaging |
Het |
| Sdr16c6 |
C |
A |
4: 4,063,335 (GRCm39) |
|
probably benign |
Het |
| Sgo2a |
T |
C |
1: 58,054,787 (GRCm39) |
S324P |
probably benign |
Het |
| Slf1 |
G |
T |
13: 77,249,070 (GRCm39) |
Q373K |
probably benign |
Het |
| Tfg |
G |
T |
16: 56,511,358 (GRCm39) |
Q324K |
probably benign |
Het |
| Wdr64 |
G |
T |
1: 175,556,496 (GRCm39) |
G248* |
probably null |
Het |
|
| Other mutations in Cfap95 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01329:Cfap95
|
APN |
19 |
23,630,100 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01635:Cfap95
|
APN |
19 |
23,536,379 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01999:Cfap95
|
APN |
19 |
23,569,529 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03011:Cfap95
|
APN |
19 |
23,630,017 (GRCm39) |
missense |
unknown |
|
|
R0894:Cfap95
|
UTSW |
19 |
23,630,062 (GRCm39) |
missense |
unknown |
|
|
R3898:Cfap95
|
UTSW |
19 |
23,570,466 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4771:Cfap95
|
UTSW |
19 |
23,536,337 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8959:Cfap95
|
UTSW |
19 |
23,536,385 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2012-12-21 |
Incidental Mutation