Incidental Mutation 'R5227:Ccpg1'
ID |
402685 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccpg1
|
Ensembl Gene |
ENSMUSG00000034563 |
Gene Name |
cell cycle progression 1 |
Synonyms |
9430028F23Rik, 1810073J13Rik, 1700030B06Rik, D9Ertd392e |
MMRRC Submission |
042800-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5227 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
72892711-72923622 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 72919354 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 323
(L323*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122966
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037977]
[ENSMUST00000085350]
[ENSMUST00000093819]
[ENSMUST00000098566]
[ENSMUST00000124008]
[ENSMUST00000140675]
[ENSMUST00000150826]
[ENSMUST00000149692]
[ENSMUST00000183746]
[ENSMUST00000184389]
[ENSMUST00000184035]
|
AlphaFold |
Q640L3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000037977
AA Change: L323*
|
SMART Domains |
Protein: ENSMUSP00000045669 Gene: ENSMUSG00000034563 AA Change: L323*
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 null
Transcript: ENSMUST00000085350
AA Change: L323*
|
SMART Domains |
Protein: ENSMUSP00000082458 Gene: ENSMUSG00000034563 AA Change: L323*
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 null
Transcript: ENSMUST00000140675
AA Change: L323*
|
SMART Domains |
Protein: ENSMUSP00000116976 Gene: ENSMUSG00000034563 AA Change: L323*
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 null
Transcript: ENSMUST00000150826
AA Change: L323*
|
SMART Domains |
Protein: ENSMUSP00000122966 Gene: ENSMUSG00000034563 AA Change: L323*
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 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: 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: 99.5%
- 3x: 99.0%
- 10x: 98.2%
- 20x: 97.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
T |
C |
17: 84,999,249 (GRCm39) |
L115P |
probably damaging |
Het |
Adgrb3 |
A |
C |
1: 25,133,033 (GRCm39) |
M481R |
possibly damaging |
Het |
Adgrd1 |
C |
A |
5: 129,199,647 (GRCm39) |
N161K |
probably benign |
Het |
Alx4 |
T |
A |
2: 93,507,725 (GRCm39) |
V340D |
probably damaging |
Het |
Arid1a |
A |
G |
4: 133,407,716 (GRCm39) |
S2264P |
unknown |
Het |
Azi2 |
A |
T |
9: 117,876,526 (GRCm39) |
H14L |
probably damaging |
Het |
Camsap2 |
A |
G |
1: 136,202,629 (GRCm39) |
|
probably benign |
Het |
Cpsf1 |
A |
T |
15: 76,483,148 (GRCm39) |
I943N |
probably damaging |
Het |
Crebrf |
T |
A |
17: 26,978,739 (GRCm39) |
Y476N |
probably damaging |
Het |
Defb10 |
T |
A |
8: 22,351,894 (GRCm39) |
Y46* |
probably null |
Het |
Dock3 |
A |
G |
9: 106,863,269 (GRCm39) |
L703P |
probably damaging |
Het |
Ebf2 |
A |
T |
14: 67,484,518 (GRCm39) |
I181F |
probably damaging |
Het |
Eif3e |
T |
A |
15: 43,114,917 (GRCm39) |
M420L |
probably benign |
Het |
Emilin3 |
T |
A |
2: 160,751,185 (GRCm39) |
Q188L |
probably damaging |
Het |
Fbxl4 |
C |
T |
4: 22,376,840 (GRCm39) |
T92M |
probably damaging |
Het |
Fer1l6 |
C |
T |
15: 58,453,752 (GRCm39) |
Q687* |
probably null |
Het |
Fkrp |
T |
C |
7: 16,544,635 (GRCm39) |
E409G |
possibly damaging |
Het |
Fzd9 |
T |
C |
5: 135,278,460 (GRCm39) |
D475G |
probably benign |
Het |
Gabbr1 |
C |
T |
17: 37,380,958 (GRCm39) |
T767I |
possibly damaging |
Het |
Gdf2 |
G |
A |
14: 33,663,451 (GRCm39) |
|
probably null |
Het |
Gpatch1 |
T |
C |
7: 35,008,776 (GRCm39) |
N82D |
probably benign |
Het |
Heg1 |
T |
A |
16: 33,583,961 (GRCm39) |
L1256Q |
probably damaging |
Het |
Ireb2 |
T |
A |
9: 54,803,885 (GRCm39) |
|
probably null |
Het |
Kansl1 |
T |
G |
11: 104,247,640 (GRCm39) |
H570P |
probably benign |
Het |
Kcna10 |
T |
G |
3: 107,101,744 (GRCm39) |
M125R |
probably damaging |
Het |
Lrp1b |
T |
G |
2: 40,741,805 (GRCm39) |
I3041L |
possibly damaging |
Het |
Mbtd1 |
T |
C |
11: 93,815,474 (GRCm39) |
F354S |
possibly damaging |
Het |
Mideas |
A |
T |
12: 84,199,661 (GRCm39) |
F1020I |
probably benign |
Het |
Mov10 |
T |
C |
3: 104,709,894 (GRCm39) |
T331A |
probably benign |
Het |
Ms4a8a |
A |
T |
19: 11,045,780 (GRCm39) |
S243T |
probably damaging |
Het |
Ndufa11 |
T |
C |
17: 57,024,867 (GRCm39) |
S10P |
probably benign |
Het |
Olfml3 |
A |
G |
3: 103,643,737 (GRCm39) |
Y215H |
possibly damaging |
Het |
Or2t45 |
T |
A |
11: 58,669,705 (GRCm39) |
F251I |
possibly damaging |
Het |
Or56b2j |
A |
G |
7: 104,353,529 (GRCm39) |
I252V |
possibly damaging |
Het |
Pclo |
T |
C |
5: 14,763,574 (GRCm39) |
S4016P |
probably benign |
Het |
Pcyox1 |
G |
C |
6: 86,368,726 (GRCm39) |
A264G |
probably damaging |
Het |
Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
Pnisr |
A |
G |
4: 21,874,587 (GRCm39) |
|
probably benign |
Het |
Prc1 |
T |
C |
7: 79,962,927 (GRCm39) |
S574P |
probably damaging |
Het |
Ranbp3l |
T |
A |
15: 9,037,186 (GRCm39) |
V16D |
probably damaging |
Het |
Rfx1 |
T |
C |
8: 84,800,687 (GRCm39) |
V96A |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sfmbt1 |
T |
C |
14: 30,537,211 (GRCm39) |
|
probably null |
Het |
Siglecf |
T |
C |
7: 43,001,364 (GRCm39) |
Y111H |
probably damaging |
Het |
Snx14 |
G |
A |
9: 88,280,347 (GRCm39) |
T536I |
possibly damaging |
Het |
Spindoc |
A |
G |
19: 7,351,512 (GRCm39) |
V204A |
probably benign |
Het |
Sptbn5 |
A |
G |
2: 119,915,812 (GRCm39) |
|
probably benign |
Het |
Swt1 |
G |
A |
1: 151,278,727 (GRCm39) |
Q227* |
probably null |
Het |
Tg |
A |
G |
15: 66,631,416 (GRCm39) |
I562V |
possibly damaging |
Het |
Trip11 |
T |
A |
12: 101,851,179 (GRCm39) |
I677F |
probably damaging |
Het |
Vmn1r49 |
G |
A |
6: 90,049,753 (GRCm39) |
T83I |
probably benign |
Het |
Vmn1r90 |
T |
C |
7: 14,295,601 (GRCm39) |
K166E |
possibly damaging |
Het |
Vmn2r124 |
T |
C |
17: 18,269,819 (GRCm39) |
I25T |
possibly damaging |
Het |
Vps13d |
A |
T |
4: 144,907,777 (GRCm39) |
|
probably null |
Het |
Zfp106 |
T |
C |
2: 120,354,449 (GRCm39) |
I170V |
probably benign |
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 |
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'- AAGGGCATGGTGGTTACATG -3'
(R):5'- ATCCTTGCCTCCTCCAAGAG -3'
Sequencing Primer
(F):5'- GGCATGGTGGTTACATGATTAAAG -3'
(R):5'- AAGAGCATCTCCCTTTCCCTAAG -3'
|
Posted On |
2016-07-22 |