Incidental Mutation 'K7894:Ccpg1'
| ID |
26524 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccpg1
|
| Ensembl Gene |
ENSMUSG00000034563 |
| Gene Name |
cell cycle progression 1 |
| Synonyms |
9430028F23Rik, 1810073J13Rik, 1700030B06Rik, D9Ertd392e |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
K7894 ()
of strain
468
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
9 |
| Chromosomal Location |
72892711-72923622 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 72909159 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122966
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037977]
[ENSMUST00000085350]
[ENSMUST00000124008]
[ENSMUST00000140675]
[ENSMUST00000149692]
[ENSMUST00000150826]
[ENSMUST00000156879]
|
| AlphaFold |
Q640L3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037977
|
| SMART Domains |
Protein: ENSMUSP00000045669
Gene: ENSMUSG00000034563
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
209 |
N/A |
INTRINSIC |
|
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
|
coiled coil region
|
296 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
572 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000085350
|
| SMART Domains |
Protein: ENSMUSP00000082458
Gene: ENSMUSG00000034563
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
209 |
N/A |
INTRINSIC |
|
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
|
coiled coil region
|
296 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
572 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124008
|
| SMART Domains |
Protein: ENSMUSP00000121059
Gene: ENSMUSG00000034563
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
94 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000140675
|
| SMART Domains |
Protein: ENSMUSP00000116976
Gene: ENSMUSG00000034563
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
209 |
N/A |
INTRINSIC |
|
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
|
coiled coil region
|
296 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
572 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149551
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149692
|
| SMART Domains |
Protein: ENSMUSP00000120629
Gene: ENSMUSG00000089865
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CS
|
6 |
77 |
2.1e-9 |
PFAM |
|
coiled coil region
|
101 |
161 |
N/A |
INTRINSIC |
|
Pfam:TPR_11
|
286 |
352 |
2e-14 |
PFAM |
|
Pfam:TPR_1
|
322 |
352 |
5.6e-6 |
PFAM |
|
Blast:TPR
|
364 |
386 |
1e-5 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000150826
|
| SMART Domains |
Protein: ENSMUSP00000122966
Gene: ENSMUSG00000034563
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
209 |
N/A |
INTRINSIC |
|
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
|
coiled coil region
|
296 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
572 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184712
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156879
|
| SMART Domains |
Protein: ENSMUSP00000117202
Gene: ENSMUSG00000034563
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
94 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9499 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 95.4%
|
| Validation Efficiency |
88% (22/25) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
C |
CAA |
3: 121,941,517 (GRCm39) |
|
probably null |
Het |
| Acsl4 |
C |
T |
X: 141,111,056 (GRCm39) |
V632I |
probably benign |
Het |
| Adcy8 |
T |
C |
15: 64,694,083 (GRCm39) |
H398R |
probably benign |
Het |
| Catsperg1 |
C |
T |
7: 28,896,579 (GRCm39) |
|
probably benign |
Het |
| Clk4 |
G |
T |
11: 51,166,593 (GRCm39) |
|
probably benign |
Het |
| Ehbp1 |
C |
T |
11: 22,039,683 (GRCm39) |
|
probably benign |
Het |
| Eri2 |
T |
C |
7: 119,384,494 (GRCm39) |
D669G |
probably benign |
Het |
| Nlrp9c |
A |
G |
7: 26,084,323 (GRCm39) |
S419P |
possibly damaging |
Het |
| Or52h7 |
A |
G |
7: 104,213,739 (GRCm39) |
T104A |
probably benign |
Het |
| Pde8a |
C |
A |
7: 80,956,513 (GRCm39) |
P304H |
probably damaging |
Het |
| Prmt3 |
A |
G |
7: 49,476,459 (GRCm39) |
Y356C |
probably damaging |
Het |
| Rsph10b |
A |
G |
5: 143,881,338 (GRCm39) |
D151G |
probably damaging |
Het |
| Spryd3 |
A |
G |
15: 102,026,576 (GRCm39) |
V365A |
probably benign |
Het |
| Vmn1r58 |
T |
C |
7: 5,413,702 (GRCm39) |
N176S |
probably benign |
Het |
|
| Other mutations in Ccpg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01665:Ccpg1
|
APN |
9 |
72,913,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01710:Ccpg1
|
APN |
9 |
72,904,723 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01818:Ccpg1
|
APN |
9 |
72,904,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0586:Ccpg1
|
UTSW |
9 |
72,909,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1188:Ccpg1
|
UTSW |
9 |
72,919,788 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1503:Ccpg1
|
UTSW |
9 |
72,906,760 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1599:Ccpg1
|
UTSW |
9 |
72,906,407 (GRCm39) |
nonsense |
probably null |
|
|
R2130:Ccpg1
|
UTSW |
9 |
72,920,440 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2188:Ccpg1
|
UTSW |
9 |
72,920,388 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3052:Ccpg1
|
UTSW |
9 |
72,913,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4155:Ccpg1
|
UTSW |
9 |
72,919,449 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4156:Ccpg1
|
UTSW |
9 |
72,919,449 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4157:Ccpg1
|
UTSW |
9 |
72,919,449 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4257:Ccpg1
|
UTSW |
9 |
72,919,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4677:Ccpg1
|
UTSW |
9 |
72,923,197 (GRCm39) |
intron |
probably benign |
|
|
R5081:Ccpg1
|
UTSW |
9 |
72,906,360 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5227:Ccpg1
|
UTSW |
9 |
72,919,354 (GRCm39) |
nonsense |
probably null |
|
|
R5288:Ccpg1
|
UTSW |
9 |
72,920,326 (GRCm39) |
missense |
probably benign |
|
|
R5385:Ccpg1
|
UTSW |
9 |
72,920,326 (GRCm39) |
missense |
probably benign |
|
|
R5386:Ccpg1
|
UTSW |
9 |
72,920,326 (GRCm39) |
missense |
probably benign |
|
|
R5412:Ccpg1
|
UTSW |
9 |
72,917,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5754:Ccpg1
|
UTSW |
9 |
72,920,526 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6230:Ccpg1
|
UTSW |
9 |
72,919,638 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7269:Ccpg1
|
UTSW |
9 |
72,920,609 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7287:Ccpg1
|
UTSW |
9 |
72,922,688 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7542:Ccpg1
|
UTSW |
9 |
72,919,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7882:Ccpg1
|
UTSW |
9 |
72,922,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8266:Ccpg1
|
UTSW |
9 |
72,913,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8268:Ccpg1
|
UTSW |
9 |
72,913,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8269:Ccpg1
|
UTSW |
9 |
72,913,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8345:Ccpg1
|
UTSW |
9 |
72,913,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8829:Ccpg1
|
UTSW |
9 |
72,917,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9450:Ccpg1
|
UTSW |
9 |
72,904,703 (GRCm39) |
missense |
unknown |
|
|
R9648:Ccpg1
|
UTSW |
9 |
72,919,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAAGCACCTTCCCCTGAAGACAATG -3'
(R):5'- TTGTGAAAGCTGGGAATGACGGCACC -3'
Sequencing Primer
(F):5'- CCCCTGAAGACAATGTCTATTTC -3'
(R):5'- acagtgagcataaaaacagcc -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation