Incidental Mutation 'R5600:Ccp110'
| ID |
438989 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccp110
|
| Ensembl Gene |
ENSMUSG00000033904 |
| Gene Name |
centriolar coiled coil protein 110 |
| Synonyms |
6330503K22Rik, CP110 |
| MMRRC Submission |
043152-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.889)
|
| Stock # |
R5600 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
118311775-118336247 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 118328948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038650]
[ENSMUST00000038650]
[ENSMUST00000106557]
[ENSMUST00000106557]
|
| AlphaFold |
Q7TSH4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038650
|
| SMART Domains |
Protein: ENSMUSP00000038881
Gene: ENSMUSG00000033904
| 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 null
Transcript: ENSMUST00000038650
|
| SMART Domains |
Protein: ENSMUSP00000038881
Gene: ENSMUSG00000033904
| 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 null
Transcript: ENSMUST00000106557
|
| SMART Domains |
Protein: ENSMUSP00000102167
Gene: ENSMUSG00000033904
| 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 |
probably null
Transcript: ENSMUST00000106557
|
| SMART Domains |
Protein: ENSMUSP00000102167
Gene: ENSMUSG00000033904
| 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 |
probably null
Transcript: ENSMUST00000123178
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000123178
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140831
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149056
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208766
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208766
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.0%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol11b |
A |
C |
15: 77,519,288 (GRCm39) |
M264R |
probably damaging |
Het |
| Asprv1 |
G |
T |
6: 86,606,044 (GRCm39) |
E297* |
probably null |
Het |
| Atp6v1c1 |
T |
C |
15: 38,687,107 (GRCm39) |
V234A |
probably benign |
Het |
| Cfap251 |
T |
C |
5: 123,426,761 (GRCm39) |
V383A |
possibly damaging |
Het |
| Fgfrl1 |
T |
C |
5: 108,853,168 (GRCm39) |
C173R |
probably damaging |
Het |
| Gm5431 |
G |
A |
11: 48,785,583 (GRCm39) |
T264M |
possibly damaging |
Het |
| Golga1 |
T |
C |
2: 38,910,111 (GRCm39) |
E637G |
probably damaging |
Het |
| Gpr158 |
A |
G |
2: 21,832,046 (GRCm39) |
T1049A |
probably benign |
Het |
| Hcn4 |
T |
A |
9: 58,766,576 (GRCm39) |
|
probably null |
Het |
| Krt86 |
G |
A |
15: 101,374,386 (GRCm39) |
V260I |
probably benign |
Het |
| Ktn1 |
A |
T |
14: 47,927,490 (GRCm39) |
Q548L |
probably damaging |
Het |
| Lingo4 |
A |
T |
3: 94,309,220 (GRCm39) |
I53F |
probably benign |
Het |
| Lrrk1 |
A |
C |
7: 65,956,963 (GRCm39) |
I336S |
probably benign |
Het |
| Magel2 |
G |
T |
7: 62,029,514 (GRCm39) |
G806V |
unknown |
Het |
| Mrc2 |
T |
A |
11: 105,224,492 (GRCm39) |
S501T |
probably damaging |
Het |
| Mrps18a |
T |
A |
17: 46,436,575 (GRCm39) |
L128* |
probably null |
Het |
| Mtor |
G |
T |
4: 148,575,927 (GRCm39) |
L1360F |
probably damaging |
Het |
| Mtpap |
A |
G |
18: 4,379,674 (GRCm39) |
E88G |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,196,436 (GRCm39) |
K1294R |
probably benign |
Het |
| Or10al2 |
G |
A |
17: 37,983,176 (GRCm39) |
M87I |
possibly damaging |
Het |
| Pik3c3 |
G |
A |
18: 30,444,346 (GRCm39) |
V520M |
probably damaging |
Het |
| Pptc7 |
T |
A |
5: 122,458,918 (GRCm39) |
V305E |
probably damaging |
Het |
| Ptgfrn |
T |
C |
3: 100,963,566 (GRCm39) |
D682G |
probably damaging |
Het |
| Rfx6 |
A |
T |
10: 51,599,157 (GRCm39) |
Q538L |
probably damaging |
Het |
| Sbk1 |
G |
A |
7: 125,891,415 (GRCm39) |
R283H |
probably damaging |
Het |
| Sfswap |
T |
C |
5: 129,590,222 (GRCm39) |
F240L |
probably damaging |
Het |
| Siglec1 |
T |
A |
2: 130,927,503 (GRCm39) |
H101L |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,767,107 (GRCm39) |
|
probably benign |
Het |
| Spink5 |
A |
G |
18: 44,151,778 (GRCm39) |
T986A |
probably damaging |
Het |
| Stat1 |
T |
A |
1: 52,188,101 (GRCm39) |
S496T |
probably benign |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tenm2 |
C |
T |
11: 36,054,541 (GRCm39) |
|
probably null |
Het |
| Tiam1 |
G |
T |
16: 89,662,253 (GRCm39) |
R622S |
probably damaging |
Het |
| Vmn2r109 |
C |
A |
17: 20,761,189 (GRCm39) |
D723Y |
probably damaging |
Het |
| Vmn2r70 |
G |
T |
7: 85,212,935 (GRCm39) |
Q491K |
probably benign |
Het |
| Wnk1 |
A |
C |
6: 119,926,319 (GRCm39) |
S1297R |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,385,233 (GRCm39) |
V5067I |
unknown |
Het |
| Zfp108 |
A |
G |
7: 23,960,011 (GRCm39) |
S201G |
probably benign |
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 |
|
|
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 |
|
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'- CTATGGCTGCTTGATATGTCATC -3'
(R):5'- TGTGAAAGACGAAACCAGTGTC -3'
Sequencing Primer
(F):5'- GGCTGCTTGATATGTCATCAGTAATC -3'
(R):5'- GTGAAAGACGAAACCAGTGTCTACAC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation