Incidental Mutation 'IGL01801:Cfap210'
| ID |
155530 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cfap210
|
| Ensembl Gene |
ENSMUSG00000070883 |
| Gene Name |
cilia and flagella associated protein 210 |
| Synonyms |
4930578N16Rik, 4930525K21Rik, Ccdc173 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
IGL01801
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
69588377-69619919 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 69606623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094942]
|
| AlphaFold |
A0JLY1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094942
|
| SMART Domains |
Protein: ENSMUSP00000092548
Gene: ENSMUSG00000070883
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
47 |
131 |
N/A |
INTRINSIC |
|
Pfam:TPH
|
142 |
475 |
8.9e-22 |
PFAM |
|
low complexity region
|
494 |
508 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148190
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932415M13Rik |
C |
T |
17: 54,031,870 (GRCm39) |
|
noncoding transcript |
Het |
| Acsm4 |
C |
T |
7: 119,306,486 (GRCm39) |
T308I |
possibly damaging |
Het |
| Adamtsl1 |
A |
G |
4: 86,117,559 (GRCm39) |
N174S |
probably benign |
Het |
| Atp1b1 |
C |
T |
1: 164,265,918 (GRCm39) |
G281D |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,347,086 (GRCm39) |
N1027S |
probably null |
Het |
| Cacnb4 |
A |
T |
2: 52,324,723 (GRCm39) |
N446K |
probably benign |
Het |
| Col13a1 |
T |
C |
10: 61,679,393 (GRCm39) |
D215G |
probably damaging |
Het |
| Cyp2d22 |
T |
C |
15: 82,257,046 (GRCm39) |
T312A |
probably benign |
Het |
| Cyp4f40 |
A |
T |
17: 32,895,279 (GRCm39) |
N467I |
probably damaging |
Het |
| Dnaaf10 |
T |
C |
11: 17,169,015 (GRCm39) |
I62T |
probably benign |
Het |
| Ehd4 |
A |
T |
2: 119,932,822 (GRCm39) |
D201E |
probably damaging |
Het |
| Farsb |
T |
C |
1: 78,435,216 (GRCm39) |
T444A |
probably benign |
Het |
| Gabra6 |
A |
C |
11: 42,205,935 (GRCm39) |
I307R |
probably damaging |
Het |
| Impg2 |
G |
A |
16: 56,057,111 (GRCm39) |
R287H |
probably damaging |
Het |
| Khdrbs1 |
A |
G |
4: 129,635,574 (GRCm39) |
V127A |
probably benign |
Het |
| Lcp1 |
A |
T |
14: 75,436,815 (GRCm39) |
T54S |
probably benign |
Het |
| Mrgpra6 |
T |
C |
7: 46,835,572 (GRCm39) |
D283G |
possibly damaging |
Het |
| Mterf4 |
T |
C |
1: 93,232,642 (GRCm39) |
R70G |
probably benign |
Het |
| Mtmr12 |
T |
C |
15: 12,270,045 (GRCm39) |
L711P |
probably damaging |
Het |
| Or4n4 |
A |
G |
14: 50,519,665 (GRCm39) |
I15T |
probably benign |
Het |
| Pax8 |
A |
G |
2: 24,334,576 (GRCm39) |
|
probably null |
Het |
| Prmt9 |
T |
C |
8: 78,289,069 (GRCm39) |
V257A |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,434,072 (GRCm39) |
V959A |
probably damaging |
Het |
| Vps54 |
T |
C |
11: 21,225,131 (GRCm39) |
|
probably null |
Het |
| Wdr70 |
C |
T |
15: 7,916,805 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cfap210 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Cfap210
|
APN |
2 |
69,602,328 (GRCm39) |
missense |
probably benign |
|
|
IGL01768:Cfap210
|
APN |
2 |
69,612,471 (GRCm39) |
splice site |
probably benign |
|
|
R0553:Cfap210
|
UTSW |
2 |
69,619,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1226:Cfap210
|
UTSW |
2 |
69,617,553 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1867:Cfap210
|
UTSW |
2 |
69,612,181 (GRCm39) |
splice site |
probably null |
|
|
R4821:Cfap210
|
UTSW |
2 |
69,612,452 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5309:Cfap210
|
UTSW |
2 |
69,617,602 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5312:Cfap210
|
UTSW |
2 |
69,617,602 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5916:Cfap210
|
UTSW |
2 |
69,619,806 (GRCm39) |
start codon destroyed |
probably null |
0.95 |
|
R6072:Cfap210
|
UTSW |
2 |
69,602,402 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6232:Cfap210
|
UTSW |
2 |
69,602,398 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6236:Cfap210
|
UTSW |
2 |
69,588,385 (GRCm39) |
splice site |
probably null |
|
|
R6909:Cfap210
|
UTSW |
2 |
69,612,192 (GRCm39) |
splice site |
probably null |
|
|
R7497:Cfap210
|
UTSW |
2 |
69,588,792 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7502:Cfap210
|
UTSW |
2 |
69,606,488 (GRCm39) |
missense |
probably benign |
|
|
R7786:Cfap210
|
UTSW |
2 |
69,612,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7934:Cfap210
|
UTSW |
2 |
69,612,450 (GRCm39) |
nonsense |
probably null |
|
|
R8316:Cfap210
|
UTSW |
2 |
69,612,287 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8905:Cfap210
|
UTSW |
2 |
69,612,104 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8977:Cfap210
|
UTSW |
2 |
69,617,643 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9117:Cfap210
|
UTSW |
2 |
69,612,103 (GRCm39) |
nonsense |
probably null |
|
|
R9163:Cfap210
|
UTSW |
2 |
69,606,510 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Posted On |
2014-02-04 |
Incidental Mutation