Incidental Mutation 'R7882:Ccpg1'
ID |
608830 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccpg1
|
Ensembl Gene |
ENSMUSG00000034563 |
Gene Name |
cell cycle progression 1 |
Synonyms |
9430028F23Rik, 1810073J13Rik, 1700030B06Rik, D9Ertd392e |
MMRRC Submission |
045934-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7882 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
72892711-72923622 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72922787 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 799
(F799S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082458
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037977]
[ENSMUST00000085350]
[ENSMUST00000093819]
[ENSMUST00000098566]
[ENSMUST00000124008]
[ENSMUST00000140675]
[ENSMUST00000149692]
[ENSMUST00000150826]
[ENSMUST00000183746]
[ENSMUST00000184035]
[ENSMUST00000184389]
|
AlphaFold |
Q640L3 |
Predicted Effect |
probably benign
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 damaging
Transcript: ENSMUST00000085350
AA Change: F799S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000082458 Gene: ENSMUSG00000034563 AA Change: F799S
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: ENSMUST00000093819
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098566
|
SMART Domains |
Protein: ENSMUSP00000096165 Gene: ENSMUSG00000079469
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_22
|
51 |
438 |
4.7e-122 |
PFAM |
|
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 benign
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 |
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 benign
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 |
probably benign
Transcript: ENSMUST00000183746
|
SMART Domains |
Protein: ENSMUSP00000138885 Gene: ENSMUSG00000079469
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_22
|
51 |
438 |
3.9e-122 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184035
|
SMART Domains |
Protein: ENSMUSP00000139269 Gene: ENSMUSG00000079469
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_22
|
51 |
438 |
3.9e-122 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184389
|
SMART Domains |
Protein: ENSMUSP00000139076 Gene: ENSMUSG00000079469
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_22
|
51 |
438 |
3.9e-122 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (48/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadm |
C |
A |
3: 153,644,250 (GRCm39) |
E110* |
probably null |
Het |
Adad1 |
G |
T |
3: 37,133,951 (GRCm39) |
V289F |
probably damaging |
Het |
Adgra2 |
A |
G |
8: 27,607,440 (GRCm39) |
D717G |
probably benign |
Het |
Arid3b |
T |
C |
9: 57,703,780 (GRCm39) |
I389M |
possibly damaging |
Het |
Axdnd1 |
A |
G |
1: 156,225,023 (GRCm39) |
V47A |
|
Het |
Cachd1 |
T |
A |
4: 100,824,244 (GRCm39) |
L562M |
probably benign |
Het |
Cadm2 |
A |
T |
16: 66,528,357 (GRCm39) |
I326N |
probably benign |
Het |
Ces1c |
T |
C |
8: 93,833,231 (GRCm39) |
I411M |
probably benign |
Het |
Cgn |
T |
G |
3: 94,669,941 (GRCm39) |
K1066N |
probably damaging |
Het |
Cntn4 |
A |
G |
6: 106,330,684 (GRCm39) |
I101V |
probably benign |
Het |
Cntrl |
A |
G |
2: 35,060,592 (GRCm39) |
E1928G |
probably benign |
Het |
Cxcl12 |
A |
G |
6: 117,148,464 (GRCm39) |
Y28C |
probably damaging |
Het |
Cyp2r1 |
A |
T |
7: 114,153,824 (GRCm39) |
|
probably null |
Het |
D430041D05Rik |
C |
T |
2: 104,087,974 (GRCm39) |
W334* |
probably null |
Het |
Dsp |
G |
A |
13: 38,367,994 (GRCm39) |
R671Q |
possibly damaging |
Het |
Fancm |
A |
G |
12: 65,173,568 (GRCm39) |
K1960R |
probably benign |
Het |
Fgd5 |
T |
A |
6: 92,045,459 (GRCm39) |
Y1331N |
probably damaging |
Het |
Ina |
G |
A |
19: 47,004,100 (GRCm39) |
E303K |
|
Het |
Kctd3 |
C |
A |
1: 188,715,243 (GRCm39) |
V369F |
possibly damaging |
Het |
Kif14 |
T |
C |
1: 136,399,314 (GRCm39) |
|
probably null |
Het |
Kif14 |
T |
C |
1: 136,443,763 (GRCm39) |
V1312A |
probably benign |
Het |
Krt84 |
T |
C |
15: 101,436,826 (GRCm39) |
I403V |
probably benign |
Het |
Krtap9-1 |
A |
C |
11: 99,764,356 (GRCm39) |
T31P |
unknown |
Het |
Lyrm9 |
A |
T |
11: 78,728,967 (GRCm39) |
I60F |
probably damaging |
Het |
Mast1 |
A |
G |
8: 85,639,947 (GRCm39) |
|
probably null |
Het |
Mmp28 |
T |
C |
11: 83,334,752 (GRCm39) |
D334G |
probably damaging |
Het |
Nr1h5 |
T |
C |
3: 102,856,931 (GRCm39) |
T194A |
possibly damaging |
Het |
Nrf1 |
A |
G |
6: 30,090,299 (GRCm39) |
I85M |
probably benign |
Het |
Nrp2 |
C |
T |
1: 62,822,680 (GRCm39) |
R758C |
probably damaging |
Het |
Or5b116 |
A |
T |
19: 13,422,951 (GRCm39) |
T192S |
probably benign |
Het |
Pcdhga4 |
A |
G |
18: 37,819,681 (GRCm39) |
D410G |
probably damaging |
Het |
Pld1 |
T |
C |
3: 28,099,158 (GRCm39) |
V275A |
probably damaging |
Het |
Plxnc1 |
A |
T |
10: 94,679,698 (GRCm39) |
F895I |
probably benign |
Het |
Polr2a |
A |
G |
11: 69,627,000 (GRCm39) |
I1486T |
possibly damaging |
Het |
Ptprz1 |
A |
G |
6: 23,002,256 (GRCm39) |
M1449V |
probably benign |
Het |
Rspo4 |
C |
A |
2: 151,711,746 (GRCm39) |
T156N |
probably damaging |
Het |
Sacs |
A |
G |
14: 61,444,520 (GRCm39) |
I2189V |
probably benign |
Het |
Stat5b |
A |
C |
11: 100,674,601 (GRCm39) |
F711V |
possibly damaging |
Het |
Stk11ip |
C |
A |
1: 75,506,108 (GRCm39) |
Q543K |
probably benign |
Het |
Tarbp1 |
G |
A |
8: 127,183,232 (GRCm39) |
T529M |
probably damaging |
Het |
Thada |
A |
T |
17: 84,736,624 (GRCm39) |
C886S |
possibly damaging |
Het |
Tmem19 |
A |
G |
10: 115,179,608 (GRCm39) |
F296S |
probably benign |
Het |
Tnfsf13b |
A |
G |
8: 10,057,078 (GRCm39) |
N79S |
not run |
Het |
Vdac3 |
C |
A |
8: 23,069,073 (GRCm39) |
G214C |
probably damaging |
Het |
Vmn2r18 |
A |
C |
5: 151,485,329 (GRCm39) |
F722V |
probably damaging |
Het |
Vmn2r45 |
A |
G |
7: 8,486,409 (GRCm39) |
L293S |
possibly damaging |
Het |
Vmn2r88 |
C |
G |
14: 51,650,503 (GRCm39) |
A72G |
probably benign |
Het |
Xpot |
A |
G |
10: 121,454,996 (GRCm39) |
|
probably null |
Het |
Zfp526 |
G |
A |
7: 24,920,860 (GRCm39) |
|
probably benign |
Het |
Zfp532 |
A |
G |
18: 65,756,561 (GRCm39) |
T165A |
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 |
K7894:Ccpg1
|
UTSW |
9 |
72,909,159 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
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'- ATGTGTTTACTACTTTCAGTCGACC -3'
(R):5'- CACAGACTATTTCATGCCTGGC -3'
Sequencing Primer
(F):5'- TCGACCTGATAAAAAGCAACGTATG -3'
(R):5'- CATGCCTGGCTTCCTTAATAAAAC -3'
|
Posted On |
2019-12-20 |