Incidental Mutation 'PIT4469001:Ccp110'
| ID |
555828 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccp110
|
| Ensembl Gene |
ENSMUSG00000033904 |
| Gene Name |
centriolar coiled coil protein 110 |
| Synonyms |
6330503K22Rik, CP110 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.889)
|
| Stock # |
PIT4469001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
118311775-118336247 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 118321600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 418
(N418K)
|
| 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: N418K
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000038881
Gene: ENSMUSG00000033904
AA Change: N418K
| 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: N418K
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000102167
Gene: ENSMUSG00000033904
AA Change: N418K
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208766
|
| Coding Region Coverage |
- 1x: 93.3%
- 3x: 90.7%
- 10x: 84.4%
- 20x: 71.1%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630001G21Rik |
A |
G |
1: 85,652,920 (GRCm39) |
F83L |
probably benign |
Het |
| Acsm2 |
T |
A |
7: 119,177,408 (GRCm39) |
C308S |
possibly damaging |
Het |
| Ak3 |
A |
G |
19: 29,025,157 (GRCm39) |
S25P |
probably damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,721,438 (GRCm39) |
V176E |
unknown |
Het |
| Bmper |
A |
T |
9: 23,317,845 (GRCm39) |
H488L |
probably benign |
Het |
| Cacna1c |
A |
T |
6: 118,572,933 (GRCm39) |
C2084S |
unknown |
Het |
| Ddx17 |
C |
A |
15: 79,428,014 (GRCm39) |
G32C |
probably damaging |
Het |
| Dennd2b |
G |
A |
7: 109,130,337 (GRCm39) |
A888V |
probably damaging |
Het |
| Dusp16 |
G |
A |
6: 134,738,115 (GRCm39) |
|
probably benign |
Het |
| Efl1 |
T |
G |
7: 82,307,373 (GRCm39) |
F90V |
probably benign |
Het |
| Ell2 |
T |
A |
13: 75,910,011 (GRCm39) |
N252K |
probably damaging |
Het |
| Gdf6 |
T |
C |
4: 9,859,569 (GRCm39) |
V217A |
probably damaging |
Het |
| H1f4 |
A |
T |
13: 23,806,362 (GRCm39) |
V40E |
probably damaging |
Het |
| Hint1 |
T |
A |
11: 54,760,896 (GRCm39) |
S112T |
unknown |
Het |
| Kif5c |
T |
C |
2: 49,631,360 (GRCm39) |
V679A |
probably benign |
Het |
| Lrrn3 |
A |
T |
12: 41,503,017 (GRCm39) |
D433E |
probably benign |
Het |
| Mast4 |
G |
A |
13: 102,941,226 (GRCm39) |
T277M |
probably damaging |
Het |
| Naa11 |
A |
G |
5: 97,539,485 (GRCm39) |
|
probably null |
Het |
| Pcdh18 |
T |
A |
3: 49,709,518 (GRCm39) |
H599L |
probably benign |
Het |
| Pgc |
A |
T |
17: 48,039,680 (GRCm39) |
K25* |
probably null |
Het |
| Pramel58 |
T |
A |
5: 94,830,652 (GRCm39) |
V50E |
probably damaging |
Het |
| Psd4 |
G |
A |
2: 24,284,306 (GRCm39) |
D57N |
probably benign |
Het |
| Pxdn |
G |
A |
12: 30,055,828 (GRCm39) |
R1238Q |
probably benign |
Het |
| Smim41 |
T |
C |
15: 101,191,152 (GRCm39) |
V6A |
probably benign |
Het |
| Spata32 |
T |
C |
11: 103,100,653 (GRCm39) |
N38S |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,279,707 (GRCm39) |
T279A |
probably benign |
Het |
| Unc13a |
C |
A |
8: 72,110,958 (GRCm39) |
E418* |
probably null |
Het |
| Vmn2r97 |
C |
A |
17: 19,149,878 (GRCm39) |
T422K |
probably benign |
Het |
| Zfp474 |
A |
T |
18: 52,771,791 (GRCm39) |
Q148L |
possibly 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 |
|
IGL00899:Ccp110
|
APN |
7 |
118,321,907 (GRCm39) |
missense |
probably benign |
|
|
IGL01837:Ccp110
|
APN |
7 |
118,324,684 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACCTAGTCCAGAGCCAAGTATG -3'
(R):5'- ACAAGTACCGTCCACCTTCTGG -3'
Sequencing Primer
(F):5'- GCCAAGTATGAGTCCTACGATGC -3'
(R):5'- GTCATCAGCTATGAAGGGACCTTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation