Incidental Mutation 'R2188:Ccpg1'
ID |
237928 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccpg1
|
Ensembl Gene |
ENSMUSG00000034563 |
Gene Name |
cell cycle progression 1 |
Synonyms |
9430028F23Rik, 1810073J13Rik, 1700030B06Rik, D9Ertd392e |
MMRRC Submission |
040190-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2188 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
72892711-72923622 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72920388 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 668
(T668A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122966
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037977]
[ENSMUST00000085350]
[ENSMUST00000093819]
[ENSMUST00000098566]
[ENSMUST00000124008]
[ENSMUST00000150826]
[ENSMUST00000140675]
[ENSMUST00000184035]
[ENSMUST00000183746]
[ENSMUST00000184389]
[ENSMUST00000149692]
|
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 benign
Transcript: ENSMUST00000085350
AA Change: T668A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000082458 Gene: ENSMUSG00000034563 AA Change: T668A
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 |
noncoding transcript
Transcript: ENSMUST00000131924
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138466
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150826
AA Change: T668A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000122966 Gene: ENSMUSG00000034563 AA Change: T668A
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: ENSMUST00000140675
AA Change: T668A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000116976 Gene: ENSMUSG00000034563 AA Change: T668A
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: ENSMUST00000184776
|
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: 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: ENSMUST00000184389
|
SMART Domains |
Protein: ENSMUSP00000139076 Gene: ENSMUSG00000079469
Domain | Start | End | E-Value | Type |
Pfam:Glyco_transf_22
|
51 |
438 |
3.9e-122 |
PFAM |
|
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
C |
10: 79,838,367 (GRCm39) |
L547P |
probably damaging |
Het |
Arhgap29 |
A |
C |
3: 121,784,658 (GRCm39) |
D195A |
probably damaging |
Het |
Atad3a |
A |
T |
4: 155,835,976 (GRCm39) |
I274N |
probably damaging |
Het |
Ccdc12 |
G |
T |
9: 110,485,699 (GRCm39) |
K23N |
possibly damaging |
Het |
Cdc34b |
T |
C |
11: 94,632,998 (GRCm39) |
I66T |
probably benign |
Het |
Dnah1 |
A |
G |
14: 31,001,121 (GRCm39) |
I2408T |
probably damaging |
Het |
Fam91a1 |
A |
C |
15: 58,302,512 (GRCm39) |
N284T |
probably damaging |
Het |
Gbp2b |
A |
T |
3: 142,314,040 (GRCm39) |
E440V |
probably benign |
Het |
Gm5134 |
T |
C |
10: 75,831,670 (GRCm39) |
S370P |
probably damaging |
Het |
Hmcn2 |
G |
A |
2: 31,309,947 (GRCm39) |
A3238T |
probably benign |
Het |
Hmg20a |
A |
G |
9: 56,384,584 (GRCm39) |
E118G |
possibly damaging |
Het |
Itprid2 |
T |
C |
2: 79,475,267 (GRCm39) |
S409P |
probably benign |
Het |
Kdm5a |
T |
A |
6: 120,383,601 (GRCm39) |
F781I |
possibly damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Kmt2d |
A |
G |
15: 98,737,181 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,298,971 (GRCm39) |
T857A |
probably benign |
Het |
Mucl2 |
T |
A |
15: 103,927,840 (GRCm39) |
N39I |
probably damaging |
Het |
Myl6 |
A |
G |
10: 128,328,566 (GRCm39) |
I27T |
possibly damaging |
Het |
Ndor1 |
A |
T |
2: 25,141,765 (GRCm39) |
|
probably null |
Het |
Nlrp9a |
A |
G |
7: 26,264,354 (GRCm39) |
E758G |
probably damaging |
Het |
Or52h7 |
G |
A |
7: 104,213,883 (GRCm39) |
A152T |
probably benign |
Het |
Or8u8 |
A |
T |
2: 86,011,780 (GRCm39) |
I225N |
probably damaging |
Het |
Parp3 |
G |
A |
9: 106,353,051 (GRCm39) |
R42W |
probably damaging |
Het |
Pik3c2g |
A |
G |
6: 139,798,600 (GRCm39) |
I495V |
probably damaging |
Het |
Qrfprl |
C |
A |
6: 65,418,260 (GRCm39) |
H143N |
probably damaging |
Het |
Sdsl |
C |
T |
5: 120,596,485 (GRCm39) |
G310S |
probably damaging |
Het |
Sec24a |
A |
G |
11: 51,614,411 (GRCm39) |
L531P |
probably damaging |
Het |
Slc2a12 |
C |
T |
10: 22,540,736 (GRCm39) |
S197F |
probably benign |
Het |
Snapc1 |
T |
A |
12: 74,017,001 (GRCm39) |
I213N |
probably damaging |
Het |
Srpk1 |
A |
T |
17: 28,813,163 (GRCm39) |
I527N |
probably damaging |
Het |
Steap2 |
G |
T |
5: 5,723,643 (GRCm39) |
Y412* |
probably null |
Het |
Tbk1 |
A |
C |
10: 121,399,836 (GRCm39) |
Y329* |
probably null |
Het |
Tekt5 |
T |
C |
16: 10,176,189 (GRCm39) |
E452G |
probably damaging |
Het |
Tmc5 |
G |
T |
7: 118,254,178 (GRCm39) |
C672F |
probably damaging |
Het |
Trim27 |
T |
C |
13: 21,367,987 (GRCm39) |
L201S |
probably damaging |
Het |
Vil1 |
A |
C |
1: 74,466,724 (GRCm39) |
D638A |
probably benign |
Het |
Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
Zfp583 |
C |
T |
7: 6,320,610 (GRCm39) |
R134H |
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 |
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'- ACAAGGCCAAGTCTGACTGC -3'
(R):5'- TATGTAAACCGACCTGGGTCCG -3'
Sequencing Primer
(F):5'- GCAGAGGCACCCATTCC -3'
(R):5'- GCCCAAAGTGTCTATATATACATCCG -3'
|
Posted On |
2014-10-02 |