Incidental Mutation 'R5412:Ccpg1'
| ID |
427543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccpg1
|
| Ensembl Gene |
ENSMUSG00000034563 |
| Gene Name |
cell cycle progression 1 |
| Synonyms |
9430028F23Rik, 1810073J13Rik, 1700030B06Rik, D9Ertd392e |
| MMRRC Submission |
042981-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5412 (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 T
at 72917588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 240
(Q240L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037977]
[ENSMUST00000085350]
[ENSMUST00000093819]
[ENSMUST00000124008]
[ENSMUST00000140675]
[ENSMUST00000150826]
[ENSMUST00000183746]
[ENSMUST00000149692]
[ENSMUST00000184389]
[ENSMUST00000184035]
|
| AlphaFold |
Q640L3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037977
AA Change: Q240L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000045669
Gene: ENSMUSG00000034563
AA Change: Q240L
| 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: Q240L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000082458
Gene: ENSMUSG00000034563
AA Change: Q240L
| 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 |
noncoding transcript
Transcript: ENSMUST00000131924
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138466
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140675
AA Change: Q240L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116976
Gene: ENSMUSG00000034563
AA Change: Q240L
| 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: ENSMUST00000150826
AA Change: Q240L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122966
Gene: ENSMUSG00000034563
AA Change: Q240L
| 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: ENSMUST00000184712
|
| 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: 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: ENSMUST00000184035
|
| SMART Domains |
Protein: ENSMUSP00000139269
Gene: ENSMUSG00000079469
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_22
|
51 |
438 |
3.9e-122 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
T |
A |
9: 55,886,036 (GRCm39) |
N36Y |
probably damaging |
Het |
| Ankfn1 |
T |
A |
11: 89,396,007 (GRCm39) |
E246D |
probably benign |
Het |
| Arid1a |
T |
C |
4: 133,446,913 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
A |
T |
3: 36,653,522 (GRCm39) |
D300E |
probably benign |
Het |
| C3 |
T |
C |
17: 57,527,187 (GRCm39) |
D754G |
probably benign |
Het |
| Cdk13 |
G |
A |
13: 17,941,115 (GRCm39) |
P650S |
probably damaging |
Het |
| Celsr2 |
G |
T |
3: 108,307,311 (GRCm39) |
S1933Y |
probably damaging |
Het |
| Cep135 |
T |
A |
5: 76,764,709 (GRCm39) |
H562Q |
probably benign |
Het |
| Cyp26a1 |
G |
T |
19: 37,689,630 (GRCm39) |
C442F |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,674,503 (GRCm39) |
S425G |
probably benign |
Het |
| Espn |
C |
T |
4: 152,212,582 (GRCm39) |
V752M |
probably damaging |
Het |
| Glyr1 |
A |
G |
16: 4,854,297 (GRCm39) |
S113P |
possibly damaging |
Het |
| Grk4 |
A |
T |
5: 34,902,612 (GRCm39) |
Y388F |
probably benign |
Het |
| H2-T15 |
C |
T |
17: 36,366,936 (GRCm39) |
C369Y |
probably benign |
Het |
| Heca |
C |
A |
10: 17,778,044 (GRCm39) |
V518F |
probably damaging |
Het |
| Hmcn2 |
C |
T |
2: 31,236,629 (GRCm39) |
P391S |
possibly damaging |
Het |
| Hnrnpl |
A |
G |
7: 28,510,529 (GRCm39) |
|
probably benign |
Het |
| Hsd3b2 |
A |
G |
3: 98,619,208 (GRCm39) |
S246P |
possibly damaging |
Het |
| Ifna11 |
C |
T |
4: 88,738,380 (GRCm39) |
P62L |
probably damaging |
Het |
| Katnal2 |
A |
T |
18: 77,090,131 (GRCm39) |
V292D |
probably damaging |
Het |
| Krt16 |
T |
A |
11: 100,137,593 (GRCm39) |
I371F |
probably damaging |
Het |
| Ly6g2 |
A |
T |
15: 75,089,669 (GRCm39) |
E59V |
probably damaging |
Het |
| Map10 |
A |
T |
8: 126,397,724 (GRCm39) |
L372F |
probably damaging |
Het |
| Megf10 |
A |
T |
18: 57,324,219 (GRCm39) |
M87L |
probably damaging |
Het |
| Ncoa6 |
T |
C |
2: 155,249,701 (GRCm39) |
H1201R |
possibly damaging |
Het |
| Ndc80 |
C |
A |
17: 71,821,226 (GRCm39) |
D241Y |
probably damaging |
Het |
| Ndufs1 |
T |
C |
1: 63,205,508 (GRCm39) |
M94V |
possibly damaging |
Het |
| Nkx2-6 |
G |
T |
14: 69,412,195 (GRCm39) |
R121L |
probably damaging |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Or6a2 |
A |
G |
7: 106,600,842 (GRCm39) |
V75A |
probably damaging |
Het |
| Otop1 |
A |
G |
5: 38,455,328 (GRCm39) |
I241V |
probably benign |
Het |
| Panx2 |
C |
A |
15: 88,953,135 (GRCm39) |
P542H |
possibly damaging |
Het |
| Pcdha5 |
C |
A |
18: 37,095,510 (GRCm39) |
P673Q |
probably benign |
Het |
| Pon1 |
A |
G |
6: 5,185,314 (GRCm39) |
L62P |
probably damaging |
Het |
| Prdx6 |
A |
T |
1: 161,071,860 (GRCm39) |
I102N |
probably damaging |
Het |
| Prkd3 |
T |
A |
17: 79,262,140 (GRCm39) |
I725F |
possibly damaging |
Het |
| Selenon |
T |
C |
4: 134,269,749 (GRCm39) |
N395S |
probably benign |
Het |
| Serpinb8 |
G |
A |
1: 107,533,616 (GRCm39) |
E224K |
probably benign |
Het |
| Serpinb9b |
A |
G |
13: 33,213,496 (GRCm39) |
M18V |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,335,400 (GRCm39) |
E318G |
possibly damaging |
Het |
| Srrt |
A |
T |
5: 137,294,549 (GRCm39) |
Y786N |
probably damaging |
Het |
| Stk36 |
G |
T |
1: 74,644,615 (GRCm39) |
|
probably null |
Het |
| Stpg1 |
T |
A |
4: 135,252,786 (GRCm39) |
L179Q |
possibly damaging |
Het |
| Stra8 |
G |
A |
6: 34,907,885 (GRCm39) |
M1I |
probably null |
Het |
| Tiam1 |
G |
T |
16: 89,681,753 (GRCm39) |
H408Q |
possibly damaging |
Het |
| Tm2d1 |
G |
A |
4: 98,253,855 (GRCm39) |
T106I |
probably damaging |
Het |
| Tmem150b |
A |
C |
7: 4,719,368 (GRCm39) |
I184S |
probably null |
Het |
| Vmn1r216 |
A |
G |
13: 23,284,081 (GRCm39) |
I255V |
probably benign |
Het |
| Vps13b |
G |
A |
15: 35,533,531 (GRCm39) |
A868T |
probably damaging |
Het |
| Wdr81 |
C |
T |
11: 75,341,620 (GRCm39) |
D1216N |
probably null |
Het |
| Zfp26 |
T |
C |
9: 20,349,535 (GRCm39) |
Y343C |
possibly damaging |
Het |
| Zfp276 |
A |
T |
8: 123,982,520 (GRCm39) |
I95F |
probably damaging |
Het |
| Zfp330 |
T |
C |
8: 83,490,865 (GRCm39) |
E315G |
probably benign |
Het |
| Zfp683 |
C |
A |
4: 133,781,862 (GRCm39) |
P56Q |
probably damaging |
Het |
| Zpld1 |
T |
A |
16: 55,052,646 (GRCm39) |
S323C |
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 |
|
|
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'- AGCATCCACTGTTGTTTGAGG -3'
(R):5'- CACCTAACTACTTCACTGCTGG -3'
Sequencing Primer
(F):5'- CACTGTTGTTTGAGGAGTGACACC -3'
(R):5'- CTCAAGTGCCAGGTTAGGATTAC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation