Incidental Mutation 'R4155:Ccpg1'
| ID |
315094 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccpg1
|
| Ensembl Gene |
ENSMUSG00000034563 |
| Gene Name |
cell cycle progression 1 |
| Synonyms |
9430028F23Rik, 1810073J13Rik, 1700030B06Rik, D9Ertd392e |
| MMRRC Submission |
040999-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4155 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
72892711-72923622 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 72919449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 355
(Q355K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122966
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037977]
[ENSMUST00000085350]
[ENSMUST00000093819]
[ENSMUST00000098566]
[ENSMUST00000124008]
[ENSMUST00000140675]
[ENSMUST00000150826]
[ENSMUST00000183746]
[ENSMUST00000149692]
[ENSMUST00000184035]
[ENSMUST00000184389]
|
| AlphaFold |
Q640L3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037977
AA Change: Q355K
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000045669
Gene: ENSMUSG00000034563
AA Change: Q355K
| 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: Q355K
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000082458
Gene: ENSMUSG00000034563
AA Change: Q355K
| 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: ENSMUST00000140675
AA Change: Q355K
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000116976
Gene: ENSMUSG00000034563
AA Change: Q355K
| 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: ENSMUST00000150826
AA Change: Q355K
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000122966
Gene: ENSMUSG00000034563
AA Change: Q355K
| 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: 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: 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 |
|
| Meta Mutation Damage Score |
0.0616 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
T |
A |
3: 145,644,018 (GRCm39) |
F69I |
possibly damaging |
Het |
| Akt3 |
A |
G |
1: 176,924,543 (GRCm39) |
I184T |
possibly damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Armc2 |
A |
G |
10: 41,887,863 (GRCm39) |
V40A |
probably damaging |
Het |
| Ash2l |
A |
G |
8: 26,307,482 (GRCm39) |
Y485H |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,770,177 (GRCm39) |
C1202* |
probably null |
Het |
| Bcl11b |
A |
T |
12: 107,883,684 (GRCm39) |
|
probably null |
Het |
| Birc6 |
C |
A |
17: 74,903,934 (GRCm39) |
S1242R |
probably benign |
Het |
| Blm |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCCTCCTCCTCCTCC |
7: 80,162,652 (GRCm39) |
|
probably benign |
Het |
| Bsx |
A |
G |
9: 40,787,632 (GRCm39) |
E102G |
probably benign |
Het |
| Casq2 |
A |
T |
3: 102,040,418 (GRCm39) |
|
probably null |
Het |
| Copa |
T |
G |
1: 171,928,992 (GRCm39) |
N251K |
probably damaging |
Het |
| Cst8 |
C |
A |
2: 148,641,996 (GRCm39) |
A31E |
possibly damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Ecd |
A |
G |
14: 20,374,632 (GRCm39) |
S503P |
probably damaging |
Het |
| Fbn2 |
C |
A |
18: 58,156,359 (GRCm39) |
E2487* |
probably null |
Het |
| Hoxd9 |
A |
G |
2: 74,529,667 (GRCm39) |
I308V |
probably benign |
Het |
| Ica1l |
G |
A |
1: 60,053,052 (GRCm39) |
A162V |
possibly damaging |
Het |
| Kcnj15 |
A |
T |
16: 95,097,166 (GRCm39) |
K263* |
probably null |
Het |
| Mettl4 |
T |
C |
17: 95,048,003 (GRCm39) |
M213V |
probably benign |
Het |
| Nalf1 |
T |
A |
8: 9,283,023 (GRCm39) |
Y342F |
possibly damaging |
Het |
| Ncan |
C |
A |
8: 70,562,727 (GRCm39) |
E510D |
possibly damaging |
Het |
| Ndufs4 |
A |
T |
13: 114,444,390 (GRCm39) |
S129R |
probably benign |
Het |
| Or14a259 |
T |
A |
7: 86,013,270 (GRCm39) |
I92L |
probably benign |
Het |
| Or4c127 |
A |
G |
2: 89,833,004 (GRCm39) |
S85G |
probably benign |
Het |
| Or52s19 |
T |
C |
7: 103,008,363 (GRCm39) |
T13A |
probably benign |
Het |
| Or8d1b |
A |
T |
9: 38,887,451 (GRCm39) |
T160S |
probably damaging |
Het |
| P2rx5 |
A |
G |
11: 73,062,655 (GRCm39) |
T455A |
probably damaging |
Het |
| Pcdh1 |
T |
A |
18: 38,336,159 (GRCm39) |
T159S |
probably damaging |
Het |
| Poln |
A |
G |
5: 34,166,993 (GRCm39) |
V755A |
possibly damaging |
Het |
| Pou4f1 |
C |
T |
14: 104,705,153 (GRCm39) |
S6N |
possibly damaging |
Het |
| Rpap1 |
C |
T |
2: 119,604,660 (GRCm39) |
R416H |
probably damaging |
Het |
| Samd4 |
T |
A |
14: 47,290,403 (GRCm39) |
M170K |
possibly damaging |
Het |
| Srgn |
A |
G |
10: 62,333,613 (GRCm39) |
F55L |
possibly damaging |
Het |
| Tmcc1 |
C |
T |
6: 116,110,765 (GRCm39) |
G176D |
probably benign |
Het |
| Tmem232 |
A |
T |
17: 65,743,328 (GRCm39) |
M321K |
probably damaging |
Het |
| Tnfsf11 |
A |
G |
14: 78,537,309 (GRCm39) |
M118T |
probably benign |
Het |
| Tns1 |
T |
A |
1: 73,953,790 (GRCm39) |
N1848Y |
probably damaging |
Het |
| Ttc27 |
T |
G |
17: 75,147,455 (GRCm39) |
I669S |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,779,035 (GRCm39) |
S1141G |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,367,676 (GRCm39) |
V1671E |
probably damaging |
Het |
| Wdr64 |
T |
A |
1: 175,597,172 (GRCm39) |
L73H |
probably benign |
Het |
| Zfp410 |
G |
A |
12: 84,374,206 (GRCm39) |
R181H |
probably damaging |
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 |
|
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'- GGTGTTGGACCGTTACTGAATCAG -3'
(R):5'- TCTGCACACTAGGAGACTCC -3'
Sequencing Primer
(F):5'- CCGTTACTGAATCAGAGAAGATTACC -3'
(R):5'- ACTAGGAGACTCCGCACG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation