Incidental Mutation 'IGL01665:Ccpg1'
| ID |
103295 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccpg1
|
| Ensembl Gene |
ENSMUSG00000034563 |
| Gene Name |
cell cycle progression 1 |
| Synonyms |
9430028F23Rik, 1810073J13Rik, 1700030B06Rik, D9Ertd392e |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01665
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
72892711-72923622 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 72913159 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 232
(F232I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122966
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037977]
[ENSMUST00000085350]
[ENSMUST00000093819]
[ENSMUST00000124008]
[ENSMUST00000140675]
[ENSMUST00000150826]
[ENSMUST00000149692]
[ENSMUST00000156879]
[ENSMUST00000183746]
|
| AlphaFold |
Q640L3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037977
AA Change: F232I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045669
Gene: ENSMUSG00000034563
AA Change: F232I
| 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: F232I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082458
Gene: ENSMUSG00000034563
AA Change: F232I
| 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 |
probably damaging
Transcript: ENSMUST00000140675
AA Change: F232I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116976
Gene: ENSMUSG00000034563
AA Change: F232I
| 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: ENSMUST00000149551
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150826
AA Change: F232I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122966
Gene: ENSMUSG00000034563
AA Change: F232I
| 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: 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: 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
T |
A |
9: 54,530,004 (GRCm39) |
I231L |
probably benign |
Het |
| Adcyap1 |
T |
A |
17: 93,507,506 (GRCm39) |
V22D |
probably damaging |
Het |
| Adgra3 |
T |
C |
5: 50,164,272 (GRCm39) |
T236A |
possibly damaging |
Het |
| Adipor2 |
A |
T |
6: 119,338,887 (GRCm39) |
L122H |
probably benign |
Het |
| Atp1a4 |
T |
C |
1: 172,074,291 (GRCm39) |
I321V |
probably benign |
Het |
| Bhmt2 |
A |
T |
13: 93,799,661 (GRCm39) |
Y258* |
probably null |
Het |
| C230029F24Rik |
T |
A |
1: 49,377,253 (GRCm39) |
|
noncoding transcript |
Het |
| Cd83 |
A |
T |
13: 43,955,153 (GRCm39) |
T195S |
probably benign |
Het |
| Cdcp3 |
G |
T |
7: 130,848,386 (GRCm39) |
G847* |
probably null |
Het |
| Cfap70 |
G |
A |
14: 20,453,186 (GRCm39) |
T897M |
probably damaging |
Het |
| Cyp3a11 |
T |
A |
5: 145,805,475 (GRCm39) |
M181L |
probably benign |
Het |
| Frem2 |
C |
T |
3: 53,457,083 (GRCm39) |
V2090I |
probably benign |
Het |
| Gm45234 |
A |
G |
6: 124,723,571 (GRCm39) |
|
probably benign |
Het |
| Gm7964 |
T |
A |
7: 83,406,341 (GRCm39) |
|
noncoding transcript |
Het |
| Igsf9 |
T |
A |
1: 172,319,738 (GRCm39) |
C39* |
probably null |
Het |
| Il1rap |
A |
T |
16: 26,541,463 (GRCm39) |
D568V |
probably damaging |
Het |
| Ints7 |
C |
T |
1: 191,345,331 (GRCm39) |
|
probably benign |
Het |
| Lsamp |
C |
T |
16: 41,964,375 (GRCm39) |
R250* |
probably null |
Het |
| Oit3 |
T |
A |
10: 59,274,731 (GRCm39) |
D23V |
probably damaging |
Het |
| Pcdh17 |
T |
A |
14: 84,684,442 (GRCm39) |
L303Q |
probably damaging |
Het |
| Pcdhb1 |
T |
A |
18: 37,400,450 (GRCm39) |
N800K |
probably benign |
Het |
| Plce1 |
A |
G |
19: 38,513,331 (GRCm39) |
D210G |
probably benign |
Het |
| Plekhb2 |
T |
A |
1: 34,908,411 (GRCm39) |
Y152N |
probably damaging |
Het |
| Rbp3 |
T |
C |
14: 33,678,088 (GRCm39) |
S679P |
probably benign |
Het |
| Rps6kc1 |
T |
C |
1: 190,643,854 (GRCm39) |
T2A |
possibly damaging |
Het |
| Tmem167 |
T |
A |
13: 90,246,504 (GRCm39) |
S9R |
probably damaging |
Het |
| Xpnpep1 |
A |
T |
19: 52,985,463 (GRCm39) |
S522T |
probably benign |
Het |
|
| Other mutations in Ccpg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation