Incidental Mutation 'IGL02671:Cfap410'
ID |
302942 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cfap410
|
Ensembl Gene |
ENSMUSG00000020284 |
Gene Name |
cilia and flagella associated protein 410 |
Synonyms |
1810043G02Rik, D10Jhu13e |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02671
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
77814364-77821272 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 77816384 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101037
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105397]
[ENSMUST00000105398]
|
AlphaFold |
Q8C6G1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000105397
|
SMART Domains |
Protein: ENSMUSP00000101036 Gene: ENSMUSG00000020284
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 |
probably benign
Transcript: ENSMUST00000105398
|
SMART Domains |
Protein: ENSMUSP00000101037 Gene: ENSMUSG00000020284
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9030612E09Rik |
T |
A |
10: 43,050,887 (GRCm39) |
H60Q |
probably benign |
Het |
Agrn |
C |
T |
4: 156,259,018 (GRCm39) |
|
probably benign |
Het |
Angpt1 |
C |
T |
15: 42,539,790 (GRCm39) |
R23H |
possibly damaging |
Het |
Cadps |
T |
A |
14: 12,491,824 (GRCm38) |
E775D |
probably damaging |
Het |
Cdc42bpa |
T |
A |
1: 179,889,387 (GRCm39) |
M211K |
probably benign |
Het |
Clec16a |
A |
G |
16: 10,445,245 (GRCm39) |
M77V |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cyp27b1 |
G |
T |
10: 126,886,912 (GRCm39) |
|
probably null |
Het |
Eef1d |
A |
G |
15: 75,767,654 (GRCm39) |
I240T |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,876,475 (GRCm39) |
F2403I |
possibly damaging |
Het |
Ighv1-47 |
C |
T |
12: 114,955,018 (GRCm39) |
V21I |
possibly damaging |
Het |
Kank1 |
T |
C |
19: 25,405,459 (GRCm39) |
L1159P |
probably damaging |
Het |
Kif12 |
T |
C |
4: 63,088,694 (GRCm39) |
E202G |
probably benign |
Het |
Kif17 |
A |
G |
4: 138,015,372 (GRCm39) |
D315G |
possibly damaging |
Het |
Mcam |
T |
C |
9: 44,048,331 (GRCm39) |
|
probably benign |
Het |
Mpdz |
A |
T |
4: 81,208,510 (GRCm39) |
D1778E |
probably damaging |
Het |
Numbl |
C |
T |
7: 26,964,327 (GRCm39) |
R46W |
probably damaging |
Het |
Or1af1 |
A |
T |
2: 37,110,257 (GRCm39) |
Y252F |
probably damaging |
Het |
Or6d13 |
C |
T |
6: 116,518,104 (GRCm39) |
T230I |
possibly damaging |
Het |
Pde3b |
T |
C |
7: 114,122,580 (GRCm39) |
V716A |
possibly damaging |
Het |
Plcg1 |
T |
A |
2: 160,597,672 (GRCm39) |
Y771* |
probably null |
Het |
Pramel5 |
A |
G |
4: 143,999,682 (GRCm39) |
V135A |
probably benign |
Het |
Slu7 |
A |
G |
11: 43,336,302 (GRCm39) |
|
probably null |
Het |
Taf2 |
C |
T |
15: 54,897,572 (GRCm39) |
V919I |
probably benign |
Het |
Tcf12 |
G |
A |
9: 72,016,999 (GRCm39) |
T36M |
probably damaging |
Het |
Tlr11 |
A |
T |
14: 50,598,149 (GRCm39) |
D45V |
probably damaging |
Het |
Tmem132b |
A |
G |
5: 125,855,791 (GRCm39) |
T508A |
probably damaging |
Het |
Trf |
C |
T |
9: 103,089,181 (GRCm39) |
E569K |
probably benign |
Het |
Trim24 |
T |
C |
6: 37,937,719 (GRCm39) |
C875R |
probably damaging |
Het |
Usf3 |
A |
G |
16: 44,042,144 (GRCm39) |
N2208S |
probably damaging |
Het |
Usp14 |
A |
G |
18: 9,997,196 (GRCm39) |
V436A |
probably damaging |
Het |
Vwa5b1 |
G |
A |
4: 138,296,437 (GRCm39) |
R1197* |
probably null |
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 |
|
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 |
|
R0568:Cfap410
|
UTSW |
10 |
77,818,872 (GRCm39) |
missense |
possibly damaging |
0.48 |
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 |
|
|
Posted On |
2015-04-16 |