Incidental Mutation 'IGL00899:Ccp110'
ID |
27760 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccp110
|
Ensembl Gene |
ENSMUSG00000033904 |
Gene Name |
centriolar coiled coil protein 110 |
Synonyms |
6330503K22Rik, CP110 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.887)
|
Stock # |
IGL00899
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
118311775-118336247 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 118321907 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 521
(C521S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102167
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038650]
[ENSMUST00000106557]
|
AlphaFold |
Q7TSH4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038650
AA Change: C521S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000038881 Gene: ENSMUSG00000033904 AA Change: C521S
Domain | Start | End | E-Value | Type |
Pfam:CALM_bind
|
29 |
135 |
7.4e-21 |
PFAM |
low complexity region
|
241 |
253 |
N/A |
INTRINSIC |
low complexity region
|
325 |
337 |
N/A |
INTRINSIC |
coiled coil region
|
642 |
699 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106557
AA Change: C521S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102167 Gene: ENSMUSG00000033904 AA Change: C521S
Domain | Start | End | E-Value | Type |
low complexity region
|
50 |
62 |
N/A |
INTRINSIC |
low complexity region
|
241 |
253 |
N/A |
INTRINSIC |
low complexity region
|
325 |
337 |
N/A |
INTRINSIC |
coiled coil region
|
642 |
699 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000123178
AA Change: C357S
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149056
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208766
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit pleiotropic phenotypes due to impaired sonic hedgehog (Shh) signaling and failure of primary cilia formation in multiple tissues. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AU018091 |
A |
G |
7: 3,208,603 (GRCm39) |
I442T |
probably benign |
Het |
Bpifb9a |
T |
C |
2: 154,106,647 (GRCm39) |
|
probably null |
Het |
Chd6 |
A |
G |
2: 160,871,218 (GRCm39) |
|
probably benign |
Het |
Cndp2 |
A |
T |
18: 84,695,501 (GRCm39) |
D133E |
probably damaging |
Het |
Crygs |
T |
C |
16: 22,625,312 (GRCm39) |
E43G |
possibly damaging |
Het |
Ednra |
C |
T |
8: 78,401,700 (GRCm39) |
G197R |
probably damaging |
Het |
Esyt1 |
A |
G |
10: 128,352,932 (GRCm39) |
L656P |
probably damaging |
Het |
Ets1 |
C |
T |
9: 32,664,104 (GRCm39) |
P118L |
probably damaging |
Het |
Fam98c |
A |
G |
7: 28,852,278 (GRCm39) |
|
probably benign |
Het |
Foxi1 |
G |
A |
11: 34,155,772 (GRCm39) |
T286I |
probably benign |
Het |
Gimap5 |
G |
A |
6: 48,730,107 (GRCm39) |
A226T |
possibly damaging |
Het |
Heatr1 |
C |
T |
13: 12,450,057 (GRCm39) |
A2017V |
probably benign |
Het |
Ikbkb |
T |
C |
8: 23,150,463 (GRCm39) |
S740G |
possibly damaging |
Het |
Inppl1 |
A |
T |
7: 101,478,365 (GRCm39) |
I617N |
probably damaging |
Het |
Itpkb |
T |
C |
1: 180,160,558 (GRCm39) |
L228P |
probably benign |
Het |
Kcnc4 |
T |
A |
3: 107,365,779 (GRCm39) |
D143V |
possibly damaging |
Het |
Krtdap |
T |
A |
7: 30,489,387 (GRCm39) |
|
probably null |
Het |
Lilra6 |
T |
A |
7: 3,916,056 (GRCm39) |
T268S |
probably damaging |
Het |
M6pr |
A |
G |
6: 122,292,354 (GRCm39) |
E183G |
possibly damaging |
Het |
Muc5ac |
T |
A |
7: 141,366,440 (GRCm39) |
V2168D |
possibly damaging |
Het |
Nbea |
A |
G |
3: 55,550,266 (GRCm39) |
S2721P |
probably benign |
Het |
Or1j20 |
A |
T |
2: 36,760,222 (GRCm39) |
I215L |
probably benign |
Het |
Pqbp1 |
T |
C |
X: 7,762,243 (GRCm39) |
N94S |
probably benign |
Het |
Prl3d2 |
T |
C |
13: 27,306,332 (GRCm39) |
S20P |
probably damaging |
Het |
Psmb2 |
T |
C |
4: 126,601,350 (GRCm39) |
I151T |
probably benign |
Het |
Rapgef6 |
G |
T |
11: 54,510,844 (GRCm39) |
E107* |
probably null |
Het |
Slc2a13 |
T |
C |
15: 91,381,602 (GRCm39) |
T296A |
probably benign |
Het |
Tcl1b4 |
A |
G |
12: 105,170,916 (GRCm39) |
T55A |
probably damaging |
Het |
Tg |
T |
C |
15: 66,545,922 (GRCm39) |
|
probably null |
Het |
Trim80 |
T |
G |
11: 115,338,491 (GRCm39) |
N440K |
probably benign |
Het |
Ttc13 |
C |
T |
8: 125,415,586 (GRCm39) |
|
probably benign |
Het |
Ttc38 |
T |
A |
15: 85,728,663 (GRCm39) |
I205N |
possibly damaging |
Het |
Ufl1 |
T |
C |
4: 25,262,238 (GRCm39) |
D336G |
probably damaging |
Het |
Vmn2r74 |
A |
T |
7: 85,606,338 (GRCm39) |
I336K |
probably benign |
Het |
Zbtb26 |
G |
T |
2: 37,326,270 (GRCm39) |
Y255* |
probably null |
Het |
Zfp462 |
T |
A |
4: 55,007,732 (GRCm39) |
V57E |
probably damaging |
Het |
|
Other mutations in Ccp110 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:Ccp110
|
APN |
7 |
118,321,647 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL00481:Ccp110
|
APN |
7 |
118,329,220 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL00725:Ccp110
|
APN |
7 |
118,329,946 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01837:Ccp110
|
APN |
7 |
118,324,684 (GRCm39) |
critical splice donor site |
probably null |
|
PIT4469001:Ccp110
|
UTSW |
7 |
118,321,600 (GRCm39) |
missense |
probably benign |
0.06 |
R1217:Ccp110
|
UTSW |
7 |
118,329,167 (GRCm39) |
splice site |
probably benign |
|
R1640:Ccp110
|
UTSW |
7 |
118,314,751 (GRCm39) |
splice site |
probably null |
|
R1700:Ccp110
|
UTSW |
7 |
118,334,536 (GRCm39) |
missense |
probably damaging |
0.99 |
R1768:Ccp110
|
UTSW |
7 |
118,325,247 (GRCm39) |
splice site |
probably null |
|
R4737:Ccp110
|
UTSW |
7 |
118,323,771 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4859:Ccp110
|
UTSW |
7 |
118,324,653 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4933:Ccp110
|
UTSW |
7 |
118,324,542 (GRCm39) |
missense |
probably damaging |
0.96 |
R4970:Ccp110
|
UTSW |
7 |
118,321,614 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4999:Ccp110
|
UTSW |
7 |
118,329,235 (GRCm39) |
nonsense |
probably null |
|
R5212:Ccp110
|
UTSW |
7 |
118,328,919 (GRCm39) |
missense |
probably damaging |
0.99 |
R5600:Ccp110
|
UTSW |
7 |
118,328,948 (GRCm39) |
critical splice donor site |
probably null |
|
R6953:Ccp110
|
UTSW |
7 |
118,321,644 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6998:Ccp110
|
UTSW |
7 |
118,332,120 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7076:Ccp110
|
UTSW |
7 |
118,331,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R7092:Ccp110
|
UTSW |
7 |
118,334,494 (GRCm39) |
missense |
probably benign |
0.26 |
R7336:Ccp110
|
UTSW |
7 |
118,321,433 (GRCm39) |
missense |
probably damaging |
0.99 |
R7343:Ccp110
|
UTSW |
7 |
118,323,798 (GRCm39) |
missense |
probably benign |
0.03 |
R7866:Ccp110
|
UTSW |
7 |
118,322,241 (GRCm39) |
missense |
probably benign |
0.07 |
R8306:Ccp110
|
UTSW |
7 |
118,321,903 (GRCm39) |
missense |
probably benign |
0.12 |
R8951:Ccp110
|
UTSW |
7 |
118,321,015 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8961:Ccp110
|
UTSW |
7 |
118,322,110 (GRCm39) |
missense |
probably damaging |
0.96 |
R9036:Ccp110
|
UTSW |
7 |
118,324,680 (GRCm39) |
missense |
probably damaging |
0.98 |
R9252:Ccp110
|
UTSW |
7 |
118,321,673 (GRCm39) |
missense |
probably benign |
|
R9652:Ccp110
|
UTSW |
7 |
118,334,553 (GRCm39) |
missense |
|
|
|
Posted On |
2013-04-17 |