Incidental Mutation 'R8266:Ccpg1'
| ID |
639639 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccpg1
|
| Ensembl Gene |
ENSMUSG00000034563 |
| Gene Name |
cell cycle progression 1 |
| Synonyms |
9430028F23Rik, 1810073J13Rik, 1700030B06Rik, D9Ertd392e |
| MMRRC Submission |
067691-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8266 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
72892711-72923622 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 72913001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 179
(R179H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082458
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037977]
[ENSMUST00000085350]
[ENSMUST00000093819]
[ENSMUST00000124008]
[ENSMUST00000140675]
[ENSMUST00000149692]
[ENSMUST00000150826]
[ENSMUST00000156879]
[ENSMUST00000183746]
|
| AlphaFold |
Q640L3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037977
AA Change: R179H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045669
Gene: ENSMUSG00000034563
AA Change: R179H
| 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: R179H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082458
Gene: ENSMUSG00000034563
AA Change: R179H
| 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: 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 damaging
Transcript: ENSMUST00000140675
AA Change: R179H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116976
Gene: ENSMUSG00000034563
AA Change: R179H
| 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 damaging
Transcript: ENSMUST00000150826
AA Change: R179H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122966
Gene: ENSMUSG00000034563
AA Change: R179H
| 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: 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.2509 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
97% (57/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
T |
A |
2: 30,691,254 (GRCm39) |
N106Y |
possibly damaging |
Het |
| A630073D07Rik |
C |
T |
6: 132,604,380 (GRCm39) |
D22N |
probably null |
Het |
| Abcf2 |
CAT |
CATAAT |
5: 24,781,589 (GRCm39) |
|
probably benign |
Het |
| Ago3 |
T |
A |
4: 126,270,721 (GRCm39) |
K258* |
probably null |
Het |
| AW146154 |
G |
A |
7: 41,130,592 (GRCm39) |
R175* |
probably null |
Het |
| Bmp8a |
G |
A |
4: 123,209,626 (GRCm39) |
T354I |
probably benign |
Het |
| C7 |
T |
A |
15: 5,037,141 (GRCm39) |
D579V |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,285,848 (GRCm39) |
N831S |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,395,533 (GRCm39) |
K2114E |
probably benign |
Het |
| Cfap20dc |
G |
A |
14: 8,482,599 (GRCm38) |
Q525* |
probably null |
Het |
| Chrnb1 |
T |
C |
11: 69,675,447 (GRCm39) |
*502W |
probably null |
Het |
| Col16a1 |
G |
A |
4: 129,959,224 (GRCm39) |
V657M |
unknown |
Het |
| Crem |
A |
T |
18: 3,309,535 (GRCm39) |
|
probably benign |
Het |
| Cyp3a25 |
A |
T |
5: 145,929,796 (GRCm39) |
V191E |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 49,976,878 (GRCm39) |
I80T |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Exoc6 |
A |
G |
19: 37,565,497 (GRCm39) |
D191G |
probably benign |
Het |
| F5 |
G |
T |
1: 164,012,693 (GRCm39) |
|
probably null |
Het |
| Foxf2 |
AGCCTCCTTACTCG |
AGCCTCCTTACTCGCCTCCTTACTCG |
13: 31,810,361 (GRCm39) |
|
probably benign |
Het |
| Fuca2 |
T |
A |
10: 13,388,633 (GRCm39) |
|
probably benign |
Het |
| Gm13102 |
A |
T |
4: 143,835,682 (GRCm39) |
D450V |
probably damaging |
Het |
| Gm527 |
T |
C |
12: 64,967,719 (GRCm39) |
L47P |
probably damaging |
Het |
| Gm5849 |
T |
C |
3: 90,685,158 (GRCm39) |
E9G |
probably damaging |
Het |
| Grik1 |
A |
G |
16: 87,744,867 (GRCm39) |
Y376H |
probably benign |
Het |
| Hrob |
T |
A |
11: 102,153,046 (GRCm39) |
V569E |
possibly damaging |
Het |
| Isl2 |
A |
G |
9: 55,451,408 (GRCm39) |
Q187R |
probably benign |
Het |
| Kat6b |
C |
T |
14: 21,566,913 (GRCm39) |
|
probably benign |
Het |
| Lpar3 |
C |
T |
3: 145,946,385 (GRCm39) |
T21I |
probably benign |
Het |
| Map4k4 |
A |
G |
1: 40,050,813 (GRCm39) |
T759A |
possibly damaging |
Het |
| Map7d1 |
G |
A |
4: 126,132,353 (GRCm39) |
S273L |
probably damaging |
Het |
| Mcm3ap |
A |
T |
10: 76,312,414 (GRCm39) |
K498* |
probably null |
Het |
| Med13l |
T |
G |
5: 118,880,174 (GRCm39) |
S1089A |
probably damaging |
Het |
| Mybphl |
T |
C |
3: 108,284,676 (GRCm39) |
Y308H |
probably damaging |
Het |
| Or2o1 |
T |
A |
11: 49,051,352 (GRCm39) |
Y170* |
probably null |
Het |
| Or51ai2 |
T |
C |
7: 103,586,746 (GRCm39) |
V53A |
probably damaging |
Het |
| Pde6a |
T |
A |
18: 61,391,284 (GRCm39) |
V543E |
probably damaging |
Het |
| Pdilt |
C |
T |
7: 119,088,604 (GRCm39) |
D466N |
probably benign |
Het |
| Pole |
T |
C |
5: 110,442,786 (GRCm39) |
V313A |
probably damaging |
Het |
| Ppfia1 |
T |
C |
7: 144,068,231 (GRCm39) |
R439G |
possibly damaging |
Het |
| Reg1 |
T |
A |
6: 78,404,342 (GRCm39) |
V72E |
possibly damaging |
Het |
| Reln |
T |
A |
5: 22,223,085 (GRCm39) |
I983F |
possibly damaging |
Het |
| Rnft2 |
T |
A |
5: 118,375,623 (GRCm39) |
D42V |
possibly damaging |
Het |
| Rps6ka1 |
A |
G |
4: 133,590,995 (GRCm39) |
Y350H |
probably damaging |
Het |
| Sec61a2 |
A |
G |
2: 5,881,650 (GRCm39) |
|
probably null |
Het |
| Septin2 |
T |
C |
1: 93,429,248 (GRCm39) |
V239A |
possibly damaging |
Het |
| Sigirr |
T |
C |
7: 140,671,662 (GRCm39) |
T374A |
unknown |
Het |
| Six4 |
T |
A |
12: 73,155,423 (GRCm39) |
I507F |
possibly damaging |
Het |
| Ska1 |
T |
C |
18: 74,337,412 (GRCm39) |
I45V |
probably benign |
Het |
| Spink2 |
T |
G |
5: 77,359,213 (GRCm39) |
R3S |
unknown |
Het |
| Stox2 |
C |
T |
8: 47,645,060 (GRCm39) |
G800D |
probably damaging |
Het |
| Tmem121b |
T |
C |
6: 120,469,193 (GRCm39) |
E508G |
probably damaging |
Het |
| Tmx4 |
T |
C |
2: 134,481,461 (GRCm39) |
Y154C |
unknown |
Het |
| Usp34 |
T |
A |
11: 23,436,810 (GRCm39) |
|
probably benign |
Het |
| Vmn2r27 |
A |
G |
6: 124,168,937 (GRCm39) |
V731A |
probably benign |
Het |
| Wdr72 |
A |
T |
9: 74,050,774 (GRCm39) |
M89L |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,338,918 (GRCm39) |
K386N |
probably damaging |
Het |
| Zfp113 |
C |
T |
5: 138,148,881 (GRCm39) |
V88M |
probably damaging |
Het |
| Zfp609 |
G |
T |
9: 65,610,996 (GRCm39) |
R656S |
possibly 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 |
|
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 |
|
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'- AAGGCTGGCAGTGATGATTG -3'
(R):5'- ACCCAACACTGACCTTTTGTG -3'
Sequencing Primer
(F):5'- GCAGTGATGATTGGCAGATTTAC -3'
(R):5'- GCACAAGGTGTTTCCACTCAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation