Mutagenetix > Incidental Mutation

Incidental Mutation 'R0141:Ccndbp1'

22300

Institutional Source

Beutler Lab

Gene Symbol

Ccndbp1

Ensembl Gene

ENSMUSG00000023572

Gene Name

cyclin D-type binding-protein 1

Synonyms

SSEC-8, GCIP, Maid, stage specific embryonic cDNA-8, DIP1

MMRRC Submission

038426-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R0141 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

120838884-120847385 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120842903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 188 (M188K)

Ref Sequence

ENSEMBL: ENSMUSP00000097087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060455] [ENSMUST00000067582] [ENSMUST00000099488] [ENSMUST00000099489] [ENSMUST00000110686] [ENSMUST00000171260] [ENSMUST00000139428]

AlphaFold

Q3TVC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000060455
AA Change: M188K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000062496
Gene: ENSMUSG00000023572
AA Change: M188K

Domain	Start	End	E-Value	Type
Pfam:GCIP	50	318	4.2e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000067582

SMART Domains

Protein: ENSMUSP00000064310
Gene: ENSMUSG00000054484

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Metallophos	56	261	7.3e-11	PFAM
transmembrane domain	430	452	N/A	INTRINSIC
transmembrane domain	479	501	N/A	INTRINSIC
transmembrane domain	530	552	N/A	INTRINSIC
transmembrane domain	573	595	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000099488
AA Change: M188K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097087
Gene: ENSMUSG00000023572
AA Change: M188K

Domain	Start	End	E-Value	Type
Pfam:GCIP	50	311	4.8e-90	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000099489
AA Change: M141K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097088
Gene: ENSMUSG00000023572
AA Change: M141K

Domain	Start	End	E-Value	Type
Pfam:GCIP	3	271	3.7e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110686

SMART Domains

Protein: ENSMUSP00000106314
Gene: ENSMUSG00000054484

Domain	Start	End	E-Value	Type
transmembrane domain	300	322	N/A	INTRINSIC
transmembrane domain	349	371	N/A	INTRINSIC
transmembrane domain	400	422	N/A	INTRINSIC
transmembrane domain	443	465	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135036

Predicted Effect

probably damaging
Transcript: ENSMUST00000171260
AA Change: M188K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125961
Gene: ENSMUSG00000023572
AA Change: M188K

Domain	Start	End	E-Value	Type
Pfam:GCIP	52	309	4.7e-74	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151532

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140468

Predicted Effect

probably benign
Transcript: ENSMUST00000139428

SMART Domains

Protein: ENSMUSP00000118808
Gene: ENSMUSG00000054484

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
SCOP:d1utea_	59	274	9e-9	SMART
low complexity region	308	327	N/A	INTRINSIC

Meta Mutation Damage Score

0.4399

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 89.9%

Validation Efficiency

88% (50/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by the interaction of its gene product with Grap2, a leukocyte-specific adaptor protein important for immune cell signaling. The protein encoded by this gene was shown to interact with cyclin D. Transfection of this gene in cells was reported to reduce the phosphorylation of Rb gene product by cyclin D-dependent protein kinase, and inhibit E2F1-mediated transcription activity. This protein was also found to interact with helix-loop-helix protein E12 and is thought to be a negative regulator of liver-specific gene expression. Several alternatively spliced variants have been found for this gene. [provided by RefSeq, Apr 2009]
PHENOTYPE: Mice homozygous for a targeted null allele exhibit a delay in G1/S-phase progression of hepatocytes after partial hepatectomy and develop hepatocellular carcinomas at an advanced age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	A	C	13: 91,919,947 (GRCm39)	D294A	probably benign	Het
Adamts9	T	C	6: 92,920,066 (GRCm39)	D24G	probably benign	Het
Ahnak	G	A	19: 8,984,044 (GRCm39)	G1776D	probably damaging	Het
Arfgef3	C	A	10: 18,473,155 (GRCm39)	C1636F	probably damaging	Het
AW551984	A	G	9: 39,501,940 (GRCm39)	L722P	probably damaging	Het
Col27a1	A	T	4: 63,183,870 (GRCm39)		probably null	Het
Cpt1c	A	G	7: 44,616,095 (GRCm39)	Y306H	probably damaging	Het
Cyp3a57	A	G	5: 145,298,912 (GRCm39)	I71V	probably benign	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Dmrt2	A	T	19: 25,655,655 (GRCm39)	Q418L	possibly damaging	Het
Ebf1	T	C	11: 44,798,827 (GRCm39)	L284S	probably damaging	Het
Fam131a	G	A	16: 20,517,738 (GRCm39)	A15T	probably benign	Het
Fbxo17	A	G	7: 28,432,916 (GRCm39)	T146A	possibly damaging	Het
Fer1l6	A	G	15: 58,430,251 (GRCm39)	E226G	probably damaging	Het
Galnt18	A	T	7: 111,198,238 (GRCm39)	I174N	probably damaging	Het
Gm44501	T	C	17: 40,889,744 (GRCm39)	I86T	probably benign	Het
Gtsf1l	T	C	2: 162,929,246 (GRCm39)	Q79R	probably benign	Het
Hapln4	T	C	8: 70,540,930 (GRCm39)	L321P	probably damaging	Het
Herc2	A	G	7: 55,771,309 (GRCm39)	T1024A	probably benign	Het
Hps5	A	G	7: 46,438,605 (GRCm39)	S43P	probably damaging	Het
Igsf10	A	G	3: 59,238,253 (GRCm39)	Y643H	probably damaging	Het
Lama4	G	A	10: 38,968,274 (GRCm39)	R1472H	probably benign	Het
Lhx9	A	G	1: 138,767,744 (GRCm39)	Y73H	possibly damaging	Het
Loxl1	T	A	9: 58,219,415 (GRCm39)	Q252L	probably damaging	Het
Lrrc37	A	C	11: 103,504,512 (GRCm39)	I2485M	probably damaging	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nr3c2	T	A	8: 77,635,037 (GRCm39)	V46D	probably damaging	Het
Or11h4	T	C	14: 50,973,840 (GRCm39)	S260G	possibly damaging	Het
Or4k77	T	A	2: 111,199,835 (GRCm39)	I286N	probably damaging	Het
Or5i1	C	G	2: 87,613,049 (GRCm39)	P55R	possibly damaging	Het
Or5p63	A	C	7: 107,811,210 (GRCm39)	N175K	possibly damaging	Het
Or5p70	A	T	7: 107,994,575 (GRCm39)	N83Y	probably benign	Het
Osbp	T	C	19: 11,951,223 (GRCm39)	V256A	possibly damaging	Het
Pclo	A	T	5: 14,841,936 (GRCm39)	D4737V	unknown	Het
Pkdrej	A	G	15: 85,699,831 (GRCm39)	I2035T	probably damaging	Het
Plek2	A	G	12: 78,941,278 (GRCm39)	S185P	probably damaging	Het
Pnpla6	G	T	8: 3,582,117 (GRCm39)		probably null	Het
Pou3f2	T	C	4: 22,487,210 (GRCm39)	T308A	possibly damaging	Het
Pramel22	T	C	4: 143,381,138 (GRCm39)	Y295C	probably benign	Het
Pxmp4	A	G	2: 154,434,215 (GRCm39)	V82A	probably damaging	Het
Rnf6	A	T	5: 146,148,645 (GRCm39)	N135K	possibly damaging	Het
Rtl1	A	G	12: 109,559,382 (GRCm39)	V819A	probably damaging	Het
Scn1a	C	A	2: 66,119,406 (GRCm39)	V1355L	probably damaging	Het
Scn2a	T	A	2: 65,542,160 (GRCm39)	N754K	probably benign	Het
Serpina3b	A	T	12: 104,097,030 (GRCm39)	N104Y	probably damaging	Het
Sh3rf2	T	C	18: 42,289,122 (GRCm39)	S648P	probably benign	Het
Slc17a6	G	A	7: 51,318,815 (GRCm39)	V486I	probably benign	Het
Spata31e2	A	T	1: 26,722,863 (GRCm39)	N772K	probably benign	Het
Syne2	T	G	12: 75,988,072 (GRCm39)	D1743E	probably damaging	Het
Tex14	T	G	11: 87,383,857 (GRCm39)		probably null	Het
Tfb1m	T	C	17: 3,605,232 (GRCm39)	D87G	probably damaging	Het
Tll2	C	T	19: 41,086,351 (GRCm39)	G609S	probably damaging	Het
Tsc22d2	A	T	3: 58,324,577 (GRCm39)		probably benign	Het
Tsen2	A	G	6: 115,545,790 (GRCm39)	D360G	probably damaging	Het
Ugt2b37	G	A	5: 87,388,842 (GRCm39)	P457L	probably damaging	Het
Vmn1r68	T	C	7: 10,261,252 (GRCm39)	N282S	possibly damaging	Het
Vmn2r58	G	A	7: 41,511,309 (GRCm39)	S498F	probably benign	Het
Zfp959	T	C	17: 56,205,139 (GRCm39)	I392T	probably benign	Het

Other mutations in Ccndbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02305:Ccndbp1	APN	2	120,841,933 (GRCm39)	missense	probably damaging	1.00
R3774:Ccndbp1	UTSW	2	120,839,581 (GRCm39)	missense	possibly damaging	0.80
R4490:Ccndbp1	UTSW	2	120,842,876 (GRCm39)	missense	probably damaging	0.97
R4695:Ccndbp1	UTSW	2	120,845,208 (GRCm39)	unclassified	probably benign
R4783:Ccndbp1	UTSW	2	120,839,003 (GRCm39)	missense	probably benign	0.00
R4784:Ccndbp1	UTSW	2	120,839,003 (GRCm39)	missense	probably benign	0.00
R4785:Ccndbp1	UTSW	2	120,839,003 (GRCm39)	missense	probably benign	0.00
R4878:Ccndbp1	UTSW	2	120,845,172 (GRCm39)	nonsense	probably null
R5637:Ccndbp1	UTSW	2	120,842,165 (GRCm39)	missense	probably benign	0.08
R5687:Ccndbp1	UTSW	2	120,845,183 (GRCm39)	unclassified	probably benign
R6363:Ccndbp1	UTSW	2	120,843,454 (GRCm39)	missense	probably damaging	1.00
R6913:Ccndbp1	UTSW	2	120,840,347 (GRCm39)	missense	probably benign	0.01
R7192:Ccndbp1	UTSW	2	120,843,424 (GRCm39)	missense	probably damaging	1.00
R7601:Ccndbp1	UTSW	2	120,846,627 (GRCm39)	missense	probably damaging	0.99
R8071:Ccndbp1	UTSW	2	120,845,046 (GRCm39)	missense	unknown
R8283:Ccndbp1	UTSW	2	120,839,065 (GRCm39)	unclassified	probably benign
R9442:Ccndbp1	UTSW	2	120,839,013 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTCCTATTACTGTGCCAGGAACAGC -3'
(R):5'- TCTGCTTGTCCAGCAATGAACAGAG -3'

Sequencing Primer
(F):5'- GTTTAACCCACTTTCTAGGCAGAG -3'
(R):5'- CAGCAATGAACAGAGGAGGC -3'

Posted On

2013-04-16