Incidental Mutation 'R0920:Cfap298'
ID |
82835 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap298
|
Ensembl Gene |
ENSMUSG00000022972 |
Gene Name |
cilia and flagella associate protien 298 |
Synonyms |
1110004E09Rik |
MMRRC Submission |
039070-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.262)
|
Stock # |
R0920 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
90722697-90732002 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 90724267 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 125
(E125K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120107
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023694]
[ENSMUST00000125519]
[ENSMUST00000142340]
[ENSMUST00000149833]
|
AlphaFold |
Q8BL95 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023694
AA Change: E169K
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000023694 Gene: ENSMUSG00000022972 AA Change: E169K
Domain | Start | End | E-Value | Type |
Pfam:DUF2870
|
189 |
285 |
4.7e-47 |
PFAM |
|
Predicted Effect |
silent
Transcript: ENSMUST00000125519
|
Predicted Effect |
unknown
Transcript: ENSMUST00000129345
AA Change: E66K
|
SMART Domains |
Protein: ENSMUSP00000122163 Gene: ENSMUSG00000022972 AA Change: E66K
Domain | Start | End | E-Value | Type |
Pfam:DUF2870
|
87 |
122 |
6.2e-17 |
PFAM |
Pfam:DUF2870
|
118 |
151 |
4.8e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131583
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000142340
AA Change: E125K
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149833
AA Change: E152K
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000123417 Gene: ENSMUSG00000022972 AA Change: E152K
Domain | Start | End | E-Value | Type |
Pfam:DUF2870
|
171 |
198 |
5.8e-14 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231711
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232334
|
Meta Mutation Damage Score |
0.5200 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
100% (37/37) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene a protein plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm2 |
T |
C |
4: 144,287,696 (GRCm39) |
|
probably benign |
Het |
Adamts16 |
A |
G |
13: 70,911,680 (GRCm39) |
|
probably benign |
Het |
Adgra3 |
A |
G |
5: 50,118,503 (GRCm39) |
V1015A |
probably benign |
Het |
Armc5 |
G |
T |
7: 127,839,491 (GRCm39) |
A270S |
probably damaging |
Het |
Cacng1 |
A |
C |
11: 107,596,682 (GRCm39) |
|
probably benign |
Het |
Ccdc33 |
T |
C |
9: 57,940,955 (GRCm39) |
D429G |
probably damaging |
Het |
Ccdc88b |
G |
T |
19: 6,824,017 (GRCm39) |
A1412E |
probably benign |
Het |
Clock |
A |
T |
5: 76,378,167 (GRCm39) |
S578T |
possibly damaging |
Het |
Crp |
T |
C |
1: 172,526,089 (GRCm39) |
F58S |
probably damaging |
Het |
Dlg5 |
T |
A |
14: 24,226,465 (GRCm39) |
Q125L |
probably damaging |
Het |
Eif3i |
T |
C |
4: 129,489,050 (GRCm39) |
|
probably benign |
Het |
Gucy1a2 |
A |
C |
9: 3,759,472 (GRCm39) |
D426A |
probably damaging |
Het |
Hpcal1 |
C |
T |
12: 17,841,098 (GRCm39) |
|
probably benign |
Het |
Inf2 |
T |
A |
12: 112,576,721 (GRCm39) |
|
probably benign |
Het |
Kdm7a |
A |
G |
6: 39,128,256 (GRCm39) |
L525P |
probably damaging |
Het |
Kirrel3 |
A |
T |
9: 34,939,648 (GRCm39) |
I152F |
probably damaging |
Het |
Knl1 |
T |
A |
2: 118,900,309 (GRCm39) |
I670K |
probably benign |
Het |
Krt76 |
T |
C |
15: 101,800,874 (GRCm39) |
T141A |
possibly damaging |
Het |
Ldb3 |
T |
C |
14: 34,289,460 (GRCm39) |
T249A |
probably benign |
Het |
Magi3 |
A |
T |
3: 103,941,507 (GRCm39) |
|
probably null |
Het |
Mfn1 |
A |
G |
3: 32,588,385 (GRCm39) |
|
probably null |
Het |
Myb |
G |
T |
10: 21,002,133 (GRCm39) |
T736K |
possibly damaging |
Het |
Myo5b |
A |
C |
18: 74,758,712 (GRCm39) |
K231T |
probably benign |
Het |
Myt1l |
T |
A |
12: 29,936,138 (GRCm39) |
C909S |
unknown |
Het |
Npas4 |
C |
A |
19: 5,036,344 (GRCm39) |
E607* |
probably null |
Het |
Nphp3 |
A |
G |
9: 103,909,106 (GRCm39) |
N772S |
probably benign |
Het |
Nup88 |
G |
T |
11: 70,847,146 (GRCm39) |
P288Q |
possibly damaging |
Het |
Or2l13 |
A |
T |
16: 19,305,680 (GRCm39) |
I31F |
probably benign |
Het |
Pknox1 |
C |
A |
17: 31,815,865 (GRCm39) |
Q240K |
probably damaging |
Het |
Plce1 |
A |
C |
19: 38,724,965 (GRCm39) |
T1439P |
probably damaging |
Het |
Ppp1r42 |
T |
A |
1: 10,069,750 (GRCm39) |
N104I |
probably damaging |
Het |
Prkar2a |
T |
A |
9: 108,596,496 (GRCm39) |
|
probably benign |
Het |
Stox2 |
C |
T |
8: 47,646,053 (GRCm39) |
R469Q |
probably damaging |
Het |
Syna |
A |
G |
5: 134,587,956 (GRCm39) |
V331A |
probably benign |
Het |
Vmn1r58 |
A |
T |
7: 5,413,788 (GRCm39) |
N147K |
probably benign |
Het |
Zdhhc6 |
A |
T |
19: 55,300,133 (GRCm39) |
L148H |
probably damaging |
Het |
|
Other mutations in Cfap298 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01338:Cfap298
|
APN |
16 |
90,722,936 (GRCm39) |
missense |
possibly damaging |
0.60 |
IGL02607:Cfap298
|
APN |
16 |
90,726,835 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02826:Cfap298
|
APN |
16 |
90,722,950 (GRCm39) |
missense |
probably benign |
0.02 |
R4586:Cfap298
|
UTSW |
16 |
90,724,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R5415:Cfap298
|
UTSW |
16 |
90,722,953 (GRCm39) |
missense |
probably benign |
0.05 |
R5443:Cfap298
|
UTSW |
16 |
90,724,099 (GRCm39) |
missense |
probably benign |
|
R8114:Cfap298
|
UTSW |
16 |
90,731,545 (GRCm39) |
missense |
probably benign |
|
R8191:Cfap298
|
UTSW |
16 |
90,727,889 (GRCm39) |
missense |
probably damaging |
0.99 |
R8699:Cfap298
|
UTSW |
16 |
90,727,945 (GRCm39) |
missense |
probably benign |
0.03 |
R8876:Cfap298
|
UTSW |
16 |
90,724,281 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9440:Cfap298
|
UTSW |
16 |
90,726,832 (GRCm39) |
missense |
probably benign |
0.17 |
R9612:Cfap298
|
UTSW |
16 |
90,724,275 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCACCTGCTGGATCTTGACGATG -3'
(R):5'- TTCTGAAGTGGACGGTAGTCACCC -3'
Sequencing Primer
(F):5'- CCCACATAGTCAGAAAGCTTCTTTG -3'
(R):5'- CTGAAAGCAGCAGCTCTTTG -3'
|
Posted On |
2013-11-08 |