Incidental Mutation 'R0553:Cfap210'
| ID |
45269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap210
|
| Ensembl Gene |
ENSMUSG00000070883 |
| Gene Name |
cilia and flagella associated protein 210 |
| Synonyms |
4930578N16Rik, 4930525K21Rik, Ccdc173 |
| MMRRC Submission |
038745-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R0553 (G1)
|
| Quality Score |
139 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
69588377-69619919 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 69619785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 8
(R8L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028494]
[ENSMUST00000094942]
[ENSMUST00000112266]
[ENSMUST00000151298]
[ENSMUST00000180290]
|
| AlphaFold |
A0JLY1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028494
|
| SMART Domains |
Protein: ENSMUSP00000028494
Gene: ENSMUSG00000027088
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Put_Phosphatase
|
3 |
239 |
1.2e-98 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094942
AA Change: R8L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092548
Gene: ENSMUSG00000070883
AA Change: R8L
| 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 |
probably benign
Transcript: ENSMUST00000112266
|
| SMART Domains |
Protein: ENSMUSP00000107885
Gene: ENSMUSG00000027088
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Put_Phosphatase
|
3 |
239 |
9.3e-99 |
PFAM |
|
Pfam:HAD_2
|
5 |
128 |
8.9e-7 |
PFAM |
|
Pfam:HAD
|
5 |
187 |
3.2e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128765
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131100
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151298
|
| SMART Domains |
Protein: ENSMUSP00000118021
Gene: ENSMUSG00000027088
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Put_Phosphatase
|
3 |
51 |
2.9e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180290
|
| SMART Domains |
Protein: ENSMUSP00000136471
Gene: ENSMUSG00000027088
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Put_Phosphatase
|
3 |
239 |
9.3e-99 |
PFAM |
|
Pfam:HAD_2
|
5 |
128 |
8.9e-7 |
PFAM |
|
Pfam:HAD
|
5 |
187 |
3.2e-15 |
PFAM |
|
| Meta Mutation Damage Score |
0.2586 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530002B09Rik |
A |
T |
4: 122,596,128 (GRCm39) |
M120L |
unknown |
Het |
| Aadacl4fm5 |
T |
A |
4: 144,503,985 (GRCm39) |
I389L |
possibly damaging |
Het |
| Adamts13 |
T |
A |
2: 26,881,346 (GRCm39) |
C774* |
probably null |
Het |
| Amh |
A |
G |
10: 80,642,010 (GRCm39) |
|
probably benign |
Het |
| Armh4 |
T |
C |
14: 49,920,143 (GRCm39) |
I729V |
probably damaging |
Het |
| Cd40 |
G |
A |
2: 164,912,661 (GRCm39) |
R204Q |
probably benign |
Het |
| Clhc1 |
A |
C |
11: 29,511,366 (GRCm39) |
|
probably benign |
Het |
| Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,110,891 (GRCm39) |
H973L |
unknown |
Het |
| Fut2 |
T |
A |
7: 45,300,698 (GRCm39) |
I25F |
probably damaging |
Het |
| Galnt7 |
T |
C |
8: 58,005,464 (GRCm39) |
|
probably benign |
Het |
| Gmppb |
A |
T |
9: 107,926,996 (GRCm39) |
M56L |
probably benign |
Het |
| Grm3 |
C |
A |
5: 9,620,048 (GRCm39) |
A399S |
probably benign |
Het |
| H2-T5 |
G |
T |
17: 36,478,949 (GRCm39) |
P100Q |
probably damaging |
Het |
| Hey2 |
G |
A |
10: 30,716,485 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
A |
G |
5: 31,433,186 (GRCm39) |
|
probably benign |
Het |
| Kcnh5 |
C |
A |
12: 75,184,447 (GRCm39) |
C92F |
probably benign |
Het |
| Kdm1a |
T |
C |
4: 136,282,609 (GRCm39) |
D229G |
probably damaging |
Het |
| Klf11 |
C |
G |
12: 24,705,089 (GRCm39) |
P164R |
probably benign |
Het |
| Klhl41 |
G |
A |
2: 69,500,554 (GRCm39) |
R5Q |
probably benign |
Het |
| Krtcap3 |
T |
C |
5: 31,409,147 (GRCm39) |
V6A |
probably benign |
Het |
| Ltbr |
A |
C |
6: 125,290,351 (GRCm39) |
|
probably null |
Het |
| Mmp17 |
T |
G |
5: 129,675,734 (GRCm39) |
S298A |
probably benign |
Het |
| Nacc2 |
T |
A |
2: 25,979,602 (GRCm39) |
E278V |
possibly damaging |
Het |
| Or5k8 |
A |
T |
16: 58,644,518 (GRCm39) |
Y185N |
probably damaging |
Het |
| Or8b12b |
T |
A |
9: 37,684,627 (GRCm39) |
I224N |
probably benign |
Het |
| Otop2 |
C |
T |
11: 115,220,288 (GRCm39) |
A376V |
probably damaging |
Het |
| Pdia2 |
T |
C |
17: 26,415,217 (GRCm39) |
E504G |
probably damaging |
Het |
| Pdzph1 |
C |
T |
17: 59,229,722 (GRCm39) |
V979M |
probably damaging |
Het |
| Pou5f1 |
A |
G |
17: 35,820,374 (GRCm39) |
K86R |
possibly damaging |
Het |
| Ptprq |
A |
G |
10: 107,546,488 (GRCm39) |
F269L |
probably benign |
Het |
| Rb1 |
A |
T |
14: 73,449,152 (GRCm39) |
C659* |
probably null |
Het |
| Rnf8 |
T |
C |
17: 29,840,613 (GRCm39) |
|
probably null |
Het |
| Rras |
T |
G |
7: 44,669,980 (GRCm39) |
I137M |
probably benign |
Het |
| Slc38a9 |
A |
T |
13: 112,850,732 (GRCm39) |
H372L |
probably damaging |
Het |
| Spata9 |
T |
C |
13: 76,125,898 (GRCm39) |
|
probably null |
Het |
| Tas2r115 |
T |
C |
6: 132,714,922 (GRCm39) |
T10A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,629,237 (GRCm39) |
E12621G |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,545,828 (GRCm39) |
I460F |
probably damaging |
Het |
| Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
| Zbtb24 |
C |
T |
10: 41,327,993 (GRCm39) |
A293V |
possibly damaging |
Het |
| Zpld2 |
T |
C |
4: 133,929,829 (GRCm39) |
T159A |
possibly damaging |
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 |
|
|
IGL01801:Cfap210
|
APN |
2 |
69,606,623 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAACCTGCCTAACTTCCAAGGATG -3'
(R):5'- TTCCAAACTAGCGCAGCGAGTG -3'
Sequencing Primer
(F):5'- AACTTCCAAGGATGCTTGCTG -3'
(R):5'- TTACGCAGCCGGTGAAC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation