Incidental Mutation 'R0568:Cfap410'
ID |
46269 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap410
|
Ensembl Gene |
ENSMUSG00000020284 |
Gene Name |
cilia and flagella associated protein 410 |
Synonyms |
1810043G02Rik, D10Jhu13e |
MMRRC Submission |
038759-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0568 (G1)
|
Quality Score |
172 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
77814364-77821272 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 77818872 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 181
(T181I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101037
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020522]
[ENSMUST00000105397]
[ENSMUST00000105398]
|
AlphaFold |
Q8C6G1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020522
|
SMART Domains |
Protein: ENSMUSP00000020522 Gene: ENSMUSG00000020277
Domain | Start | End | E-Value | Type |
Pfam:PFK
|
17 |
324 |
4.7e-109 |
PFAM |
Pfam:PFK
|
401 |
686 |
1.9e-98 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105397
AA Change: T181I
PolyPhen 2
Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000101036 Gene: ENSMUSG00000020284 AA Change: T181I
Domain | Start | End | E-Value | Type |
LRRcap
|
104 |
122 |
3.42e-2 |
SMART |
low complexity region
|
178 |
191 |
N/A |
INTRINSIC |
low complexity region
|
210 |
227 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105398
AA Change: T181I
PolyPhen 2
Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000101037 Gene: ENSMUSG00000020284 AA Change: T181I
Domain | Start | End | E-Value | Type |
LRRcap
|
104 |
122 |
3.42e-2 |
SMART |
low complexity region
|
178 |
191 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000116237
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123999
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129277
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130949
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149074
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136275
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.4%
|
Validation Efficiency |
100% (38/38) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acnat1 |
G |
A |
4: 49,451,003 (GRCm39) |
T36I |
possibly damaging |
Het |
Adamts20 |
T |
C |
15: 94,189,594 (GRCm39) |
|
probably benign |
Het |
Adamtsl1 |
T |
C |
4: 86,336,789 (GRCm39) |
L1558S |
probably damaging |
Het |
Ap3b2 |
A |
G |
7: 81,114,377 (GRCm39) |
|
probably null |
Het |
Bag2 |
T |
C |
1: 33,786,059 (GRCm39) |
M88V |
probably benign |
Het |
Brms1l |
A |
G |
12: 55,908,173 (GRCm39) |
|
probably null |
Het |
C8b |
A |
G |
4: 104,650,577 (GRCm39) |
I462V |
probably benign |
Het |
Cnpy4 |
A |
G |
5: 138,190,839 (GRCm39) |
E167G |
probably damaging |
Het |
Copa |
T |
C |
1: 171,939,704 (GRCm39) |
V624A |
possibly damaging |
Het |
Gm4553 |
G |
T |
7: 141,719,357 (GRCm39) |
P24T |
unknown |
Het |
Gna12 |
A |
G |
5: 140,746,638 (GRCm39) |
V269A |
possibly damaging |
Het |
Gtf2ird2 |
G |
T |
5: 134,240,083 (GRCm39) |
E302* |
probably null |
Het |
Hmcn2 |
C |
A |
2: 31,305,248 (GRCm39) |
S3140R |
probably benign |
Het |
Hspa4 |
A |
G |
11: 53,153,703 (GRCm39) |
|
probably benign |
Het |
Hspbp1 |
A |
T |
7: 4,687,431 (GRCm39) |
L60* |
probably null |
Het |
Lats1 |
A |
T |
10: 7,588,292 (GRCm39) |
I970F |
possibly damaging |
Het |
Lipo3 |
T |
C |
19: 33,559,442 (GRCm39) |
|
probably benign |
Het |
Lrrc3 |
T |
A |
10: 77,737,419 (GRCm39) |
R6W |
probably damaging |
Het |
Lxn |
C |
T |
3: 67,368,335 (GRCm39) |
A143T |
probably damaging |
Het |
Mga |
T |
C |
2: 119,765,903 (GRCm39) |
I1390T |
probably damaging |
Het |
Ncapg2 |
T |
A |
12: 116,386,835 (GRCm39) |
I286N |
probably damaging |
Het |
Or4c107 |
T |
A |
2: 88,789,387 (GRCm39) |
Y192* |
probably null |
Het |
Pitpnm2 |
A |
G |
5: 124,278,580 (GRCm39) |
|
probably benign |
Het |
Plxna2 |
T |
C |
1: 194,433,694 (GRCm39) |
V581A |
probably benign |
Het |
Polr3d |
A |
T |
14: 70,676,959 (GRCm39) |
H378Q |
possibly damaging |
Het |
Ptpn13 |
T |
C |
5: 103,637,631 (GRCm39) |
V173A |
probably damaging |
Het |
Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
Smc4 |
T |
C |
3: 68,929,794 (GRCm39) |
|
probably null |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Syngr3 |
C |
T |
17: 24,905,555 (GRCm39) |
A140T |
probably benign |
Het |
Tent2 |
A |
G |
13: 93,291,500 (GRCm39) |
S381P |
probably benign |
Het |
Tprn |
T |
C |
2: 25,154,333 (GRCm39) |
V545A |
probably damaging |
Het |
Trim66 |
T |
C |
7: 109,059,902 (GRCm39) |
H828R |
probably benign |
Het |
Ugt2b5 |
G |
A |
5: 87,285,224 (GRCm39) |
|
probably benign |
Het |
Vps9d1 |
A |
G |
8: 123,973,487 (GRCm39) |
V432A |
probably damaging |
Het |
Zswim9 |
A |
T |
7: 12,994,952 (GRCm39) |
D401E |
probably damaging |
Het |
|
Other mutations in Cfap410 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02227:Cfap410
|
APN |
10 |
77,818,784 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL02376:Cfap410
|
APN |
10 |
77,820,388 (GRCm39) |
intron |
probably benign |
|
IGL02671:Cfap410
|
APN |
10 |
77,816,384 (GRCm39) |
splice site |
probably benign |
|
R0145:Cfap410
|
UTSW |
10 |
77,819,390 (GRCm39) |
missense |
probably benign |
0.04 |
R0347:Cfap410
|
UTSW |
10 |
77,820,256 (GRCm39) |
missense |
probably damaging |
0.96 |
R0568:Cfap410
|
UTSW |
10 |
77,820,381 (GRCm39) |
makesense |
probably null |
|
R1778:Cfap410
|
UTSW |
10 |
77,818,778 (GRCm39) |
missense |
probably benign |
0.00 |
R2279:Cfap410
|
UTSW |
10 |
77,817,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R2939:Cfap410
|
UTSW |
10 |
77,817,507 (GRCm39) |
missense |
probably benign |
0.00 |
R4656:Cfap410
|
UTSW |
10 |
77,817,450 (GRCm39) |
missense |
probably benign |
0.01 |
R4866:Cfap410
|
UTSW |
10 |
77,817,413 (GRCm39) |
splice site |
probably null |
|
R6539:Cfap410
|
UTSW |
10 |
77,820,322 (GRCm39) |
missense |
probably benign |
0.07 |
R7016:Cfap410
|
UTSW |
10 |
77,818,790 (GRCm39) |
missense |
probably benign |
|
R7950:Cfap410
|
UTSW |
10 |
77,815,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R8168:Cfap410
|
UTSW |
10 |
77,818,778 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTCCACAAGCTGTGACCGAGGAAG -3'
(R):5'- TCTCAGGAAAGGCCCAGAAGTGAC -3'
Sequencing Primer
(F):5'- AGGAAGAGCTGACCCGC -3'
(R):5'- AGACAGGTTCTTGAGGTCAC -3'
|
Posted On |
2013-06-11 |