Mutagenetix > Incidental Mutation

Incidental Mutation 'R7542:Ccpg1'

583961

Institutional Source

Beutler Lab

Gene Symbol

Ccpg1

Ensembl Gene

ENSMUSG00000034563

Gene Name

cell cycle progression 1

Synonyms

9430028F23Rik, 1810073J13Rik, 1700030B06Rik, D9Ertd392e

MMRRC Submission

045614-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7542 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72892711-72923622 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72919741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 452 (V452D)

Ref Sequence

ENSEMBL: ENSMUSP00000082458 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037977] [ENSMUST00000085350] [ENSMUST00000093819] [ENSMUST00000098566] [ENSMUST00000124008] [ENSMUST00000140675] [ENSMUST00000149692] [ENSMUST00000150826] [ENSMUST00000183746] [ENSMUST00000184035] [ENSMUST00000184389]

AlphaFold

Q640L3

Predicted Effect

probably damaging
Transcript: ENSMUST00000037977
AA Change: V452D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045669
Gene: ENSMUSG00000034563
AA Change: V452D

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: V452D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000082458
Gene: ENSMUSG00000034563
AA Change: V452D

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

probably damaging
Transcript: ENSMUST00000140675
AA Change: V452D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116976
Gene: ENSMUSG00000034563
AA Change: V452D

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: V452D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122966
Gene: ENSMUSG00000034563
AA Change: V452D

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	A	T	8: 41,133,848 (GRCm39)	T439S	possibly damaging	Het
Akap11	A	T	14: 78,747,732 (GRCm39)	S1552T		Het
Akap6	A	G	12: 53,116,017 (GRCm39)	E1040G	probably damaging	Het
Alms1	A	T	6: 85,606,344 (GRCm39)	T2196S	possibly damaging	Het
Alox12e	T	C	11: 70,212,582 (GRCm39)	Q89R	possibly damaging	Het
AW551984	T	A	9: 39,505,927 (GRCm39)	E423D	possibly damaging	Het
Cdk5r1	T	C	11: 80,369,190 (GRCm39)	F286L	probably damaging	Het
Cgref1	A	T	5: 31,090,937 (GRCm39)	N292K	probably damaging	Het
Clgn	A	T	8: 84,122,174 (GRCm39)	S32C	possibly damaging	Het
Csk	C	A	9: 57,536,283 (GRCm39)		probably null	Het
Dchs2	A	G	3: 83,176,591 (GRCm39)	T850A	probably benign	Het
Defb2	T	C	8: 22,333,360 (GRCm39)	V45A	probably benign	Het
Disp2	A	G	2: 118,621,599 (GRCm39)	Q777R	probably damaging	Het
Dll1	C	T	17: 15,590,609 (GRCm39)	C369Y	probably damaging	Het
Dnah7c	A	G	1: 46,823,658 (GRCm39)	I3766V	probably benign	Het
Elapor1	A	T	3: 108,365,543 (GRCm39)		probably benign	Het
Fam53a	A	G	5: 33,764,815 (GRCm39)	M297T	probably damaging	Het
Fat4	A	G	3: 39,035,504 (GRCm39)	D3052G	possibly damaging	Het
Fat4	A	T	3: 39,035,770 (GRCm39)	I3141F	possibly damaging	Het
Fbxw10	T	C	11: 62,741,422 (GRCm39)	V180A	probably benign	Het
Frem2	A	T	3: 53,560,000 (GRCm39)	D1502E	probably damaging	Het
Fsip2	A	T	2: 82,815,196 (GRCm39)	N3643I	possibly damaging	Het
Furin	A	G	7: 80,043,207 (GRCm39)	S335P	probably damaging	Het
Glb1l3	C	A	9: 26,729,491 (GRCm39)	A659S	possibly damaging	Het
Gm8011	A	T	14: 42,288,741 (GRCm39)	R175*	probably null	Het
Gna15	A	G	10: 81,350,136 (GRCm39)	S89P	probably damaging	Het
Grm2	A	T	9: 106,528,368 (GRCm39)	L172Q	probably damaging	Het
Iqcn	A	G	8: 71,161,415 (GRCm39)	T203A	possibly damaging	Het
Kcnc3	A	G	7: 44,245,138 (GRCm39)	D476G	possibly damaging	Het
Kcnh6	A	G	11: 105,905,387 (GRCm39)	T216A	possibly damaging	Het
Kdm2a	G	A	19: 4,383,858 (GRCm39)		probably benign	Het
Lrrc9	T	C	12: 72,553,094 (GRCm39)	I1332T	probably damaging	Het
Maea	T	C	5: 33,529,007 (GRCm39)	C317R	probably damaging	Het
Manba	T	C	3: 135,272,354 (GRCm39)	V707A	probably benign	Het
Mcph1	C	T	8: 18,681,705 (GRCm39)	R281C	probably benign	Het
Med25	A	T	7: 44,541,215 (GRCm39)	D99E	probably damaging	Het
Megf10	C	A	18: 57,322,642 (GRCm39)	D62E	probably benign	Het
Minar1	T	A	9: 89,483,964 (GRCm39)	T478S	probably damaging	Het
Myod1	A	T	7: 46,026,097 (GRCm39)	M1L	probably benign	Het
Nav3	A	T	10: 109,659,394 (GRCm39)	M741K	possibly damaging	Het
Odf2l	A	C	3: 144,859,197 (GRCm39)	K618T	probably damaging	Het
Or4c107	A	T	2: 88,789,119 (GRCm39)	E103V	probably benign	Het
Pcdha2	G	A	18: 37,073,142 (GRCm39)	G258R	probably damaging	Het
Pcdha3	G	A	18: 37,080,784 (GRCm39)	A509T	possibly damaging	Het
Pde4dip	A	G	3: 97,673,971 (GRCm39)	V315A	possibly damaging	Het
Prim1	T	C	10: 127,853,903 (GRCm39)	V107A	probably damaging	Het
Pxdc1	A	G	13: 34,822,146 (GRCm39)		probably null	Het
Rab7b	C	T	1: 131,639,379 (GRCm39)	H182Y	probably benign	Het
Reln	C	A	5: 22,160,179 (GRCm39)	G2130V	probably damaging	Het
Retreg1	T	A	15: 25,941,296 (GRCm39)	M1K	probably null	Het
Rras	G	A	7: 44,669,766 (GRCm39)	R94Q	probably damaging	Het
Rundc3a	T	A	11: 102,290,871 (GRCm39)	L318Q	probably benign	Het
Scgb2b18	A	T	7: 32,872,747 (GRCm39)		probably null	Het
Setd1b	A	T	5: 123,286,510 (GRCm39)	M519L	unknown	Het
Tep1	G	A	14: 51,099,948 (GRCm39)	Q426*	probably null	Het
Tesk1	G	T	4: 43,445,941 (GRCm39)	M291I	probably benign	Het
Tgs1	A	G	4: 3,595,439 (GRCm39)	D536G	probably benign	Het
Thbs1	C	T	2: 117,951,655 (GRCm39)	T825M	probably damaging	Het
Tmem59l	T	C	8: 70,937,814 (GRCm39)	N189D	possibly damaging	Het
Trim30c	A	T	7: 104,031,425 (GRCm39)	D463E	possibly damaging	Het
Trpc4	A	G	3: 54,223,075 (GRCm39)	Y706C	probably damaging	Het
Ttc13	A	T	8: 125,401,842 (GRCm39)		probably null	Het
Tulp1	T	C	17: 28,582,729 (GRCm39)	K140E	probably benign	Het
Urb2	A	G	8: 124,755,327 (GRCm39)	I345V	probably benign	Het
Vmn2r43	T	C	7: 8,258,488 (GRCm39)	M242V	probably benign	Het
Zcwpw1	T	C	5: 137,817,785 (GRCm39)	V509A	probably benign	Het
Zfp202	T	C	9: 40,122,443 (GRCm39)	C402R	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
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
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'- ATGCTCTTGGAGGAGGCAAG -3'
(R):5'- TGGCGAAAAGTGGATTTGACTG -3'

Sequencing Primer
(F):5'- GGAACAGCTCACAGCCATGG -3'
(R):5'- CGAAAAGTGGATTTGACTGAATCTG -3'

Posted On

2019-10-17