Incidental Mutation 'R4156:Ccpg1'
| ID |
315543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccpg1
|
| Ensembl Gene |
ENSMUSG00000034563 |
| Gene Name |
cell cycle progression 1 |
| Synonyms |
9430028F23Rik, 1810073J13Rik, 1700030B06Rik, D9Ertd392e |
| MMRRC Submission |
040862-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4156 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
96% (44/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
T |
A |
3: 145,644,018 (GRCm39) |
F69I |
possibly damaging |
Het |
| Acot12 |
C |
T |
13: 91,932,882 (GRCm39) |
L552F |
probably benign |
Het |
| Aff4 |
T |
A |
11: 53,301,726 (GRCm39) |
|
probably benign |
Het |
| Aldh18a1 |
A |
G |
19: 40,539,725 (GRCm39) |
V750A |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,469,149 (GRCm39) |
|
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Bcl11b |
A |
T |
12: 107,883,684 (GRCm39) |
|
probably null |
Het |
| Cdc42bpb |
G |
A |
12: 111,260,573 (GRCm39) |
P1702S |
probably benign |
Het |
| Ddx20 |
G |
T |
3: 105,586,249 (GRCm39) |
Q699K |
probably benign |
Het |
| Ecd |
A |
G |
14: 20,374,632 (GRCm39) |
S503P |
probably damaging |
Het |
| Etaa1 |
C |
T |
11: 17,890,281 (GRCm39) |
R860Q |
probably damaging |
Het |
| Ffar2 |
T |
A |
7: 30,519,093 (GRCm39) |
Y149F |
probably damaging |
Het |
| Gamt |
T |
A |
10: 80,096,558 (GRCm39) |
R60* |
probably null |
Het |
| Gm6871 |
T |
C |
7: 41,195,510 (GRCm39) |
N302S |
probably damaging |
Het |
| Hps3 |
A |
G |
3: 20,083,393 (GRCm39) |
S135P |
probably damaging |
Het |
| Ifi203 |
T |
A |
1: 173,764,106 (GRCm39) |
N122I |
probably damaging |
Het |
| Leng9 |
T |
C |
7: 4,152,433 (GRCm39) |
D81G |
possibly damaging |
Het |
| Lrrc23 |
T |
A |
6: 124,747,804 (GRCm39) |
K262* |
probably null |
Het |
| Morc2b |
T |
A |
17: 33,357,401 (GRCm39) |
T124S |
probably benign |
Het |
| Mroh1 |
G |
A |
15: 76,286,326 (GRCm39) |
|
probably null |
Het |
| Naxe |
T |
C |
3: 87,964,011 (GRCm39) |
K240R |
probably benign |
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 |
| Oog2 |
A |
G |
4: 143,920,523 (GRCm39) |
|
probably benign |
Het |
| Or5h18 |
A |
T |
16: 58,847,931 (GRCm39) |
F113Y |
probably damaging |
Het |
| Or8h8 |
T |
C |
2: 86,753,222 (GRCm39) |
Y218C |
probably damaging |
Het |
| Or8j3c |
C |
A |
2: 86,253,544 (GRCm39) |
V159L |
possibly damaging |
Het |
| Papola |
G |
A |
12: 105,767,010 (GRCm39) |
|
probably null |
Het |
| Pasd1 |
T |
C |
X: 70,983,161 (GRCm39) |
C378R |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,056,453 (GRCm39) |
S4517P |
probably damaging |
Het |
| Rpap1 |
C |
T |
2: 119,604,660 (GRCm39) |
R416H |
probably damaging |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Rxfp2 |
G |
A |
5: 149,975,020 (GRCm39) |
V210I |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,484,020 (GRCm39) |
D3909G |
probably damaging |
Het |
| Spata31d1a |
T |
A |
13: 59,852,861 (GRCm39) |
K76N |
possibly damaging |
Het |
| Srgn |
A |
G |
10: 62,333,613 (GRCm39) |
F55L |
possibly damaging |
Het |
| Tmem54 |
G |
A |
4: 129,004,504 (GRCm39) |
R151Q |
probably damaging |
Het |
| Tns1 |
T |
A |
1: 73,953,790 (GRCm39) |
N1848Y |
probably damaging |
Het |
| Trim33 |
G |
T |
3: 103,217,630 (GRCm39) |
V192L |
possibly damaging |
Het |
| Trpm5 |
G |
T |
7: 142,642,792 (GRCm39) |
L52I |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,779,035 (GRCm39) |
S1141G |
probably benign |
Het |
| Vmn1r63 |
T |
C |
7: 5,806,531 (GRCm39) |
T34A |
possibly damaging |
Het |
| Vmn2r50 |
T |
C |
7: 9,774,309 (GRCm39) |
K529R |
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,995,743 (GRCm39) |
T302A |
possibly damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,104,177 (GRCm39) |
|
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 |
|
R4155: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'- TGGACCGTTACTGAATCAGAGAAG -3'
(R):5'- TCTGCACACTAGGAGACTCC -3'
Sequencing Primer
(F):5'- CCGTTACTGAATCAGAGAAGATTACC -3'
(R):5'- ACTAGGAGACTCCGCACG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation