Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02305:Ccndbp1'

287538

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

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

Stock #

IGL02305

Quality Score

Status

Chromosome

Chromosomal Location

120838884-120847385 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120841933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 67 (L67P)

Ref Sequence

ENSEMBL: ENSMUSP00000097088 (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: L114P

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

SMART Domains

Protein: ENSMUSP00000062496
Gene: ENSMUSG00000023572
AA Change: L114P

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: L114P

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

SMART Domains

Protein: ENSMUSP00000097087
Gene: ENSMUSG00000023572
AA Change: L114P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000099489
AA Change: L67P

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

SMART Domains

Protein: ENSMUSP00000097088
Gene: ENSMUSG00000023572
AA Change: L67P

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: L114P

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

SMART Domains

Protein: ENSMUSP00000125961
Gene: ENSMUSG00000023572
AA Change: L114P

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

noncoding transcript
Transcript: ENSMUST00000135599

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

Coding Region Coverage

Validation Efficiency

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,921,048 (GRCm39)	T599I	probably damaging	Het
Ahi1	A	G	10: 20,846,796 (GRCm39)	T409A	probably benign	Het
Apol10b	T	A	15: 77,469,630 (GRCm39)	R182S	possibly damaging	Het
Arhgap35	A	G	7: 16,297,590 (GRCm39)	F492L	probably benign	Het
Ccdc136	A	G	6: 29,406,173 (GRCm39)	D173G	probably damaging	Het
Dync2h1	C	T	9: 7,122,678 (GRCm39)	V2093I	probably benign	Het
Eps15l1	T	C	8: 73,140,853 (GRCm39)	K213R	probably null	Het
Fat4	A	T	3: 39,064,137 (GRCm39)	N4698Y	probably damaging	Het
Frmpd1	G	T	4: 45,249,209 (GRCm39)	R133L	probably damaging	Het
Gdi2	T	A	13: 3,606,428 (GRCm39)	M158K	probably damaging	Het
Hoxc8	A	G	15: 102,901,025 (GRCm39)	Y156C	probably damaging	Het
Iho1	A	T	9: 108,283,031 (GRCm39)	M219K	possibly damaging	Het
Kcnh2	T	C	5: 24,527,658 (GRCm39)	D898G	possibly damaging	Het
Kng2	T	C	16: 22,819,374 (GRCm39)		probably benign	Het
Men1	T	C	19: 6,390,168 (GRCm39)	L566P	probably damaging	Het
Mtmr2	T	C	9: 13,706,551 (GRCm39)	W153R	probably damaging	Het
Mug2	T	G	6: 122,013,015 (GRCm39)	L309R	probably benign	Het
Myo7a	A	G	7: 97,700,836 (GRCm39)	*2165R	probably null	Het
Ogfod2	T	C	5: 124,250,910 (GRCm39)		probably null	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Or8g20	A	T	9: 39,396,333 (GRCm39)	I72N	probably damaging	Het
Pard6g	T	C	18: 80,160,985 (GRCm39)	L366P	probably damaging	Het
Pdlim4	A	T	11: 53,946,759 (GRCm39)	L117H	probably damaging	Het
Pkd1l1	G	A	11: 8,852,467 (GRCm39)	A672V	probably benign	Het
Pomt2	A	G	12: 87,164,703 (GRCm39)		probably benign	Het
Prpf4	T	A	4: 62,333,633 (GRCm39)		probably benign	Het
Rad17	C	T	13: 100,770,370 (GRCm39)		probably null	Het
Ryr3	T	A	2: 112,475,622 (GRCm39)	I4499F	probably damaging	Het
Sav1	A	G	12: 70,033,550 (GRCm39)		probably benign	Het
Scube1	A	T	15: 83,491,591 (GRCm39)	F887I	probably damaging	Het
Slc5a6	T	C	5: 31,195,179 (GRCm39)	S473G	probably benign	Het
Taf1b	T	C	12: 24,594,270 (GRCm39)	S268P	possibly damaging	Het
Tmem135	A	T	7: 88,814,331 (GRCm39)		probably null	Het
Vmn2r104	A	T	17: 20,263,118 (GRCm39)	N114K	probably benign	Het
Ypel5	A	T	17: 73,155,591 (GRCm39)	Y53F	probably benign	Het
Zfp438	A	G	18: 5,213,674 (GRCm39)	V428A	possibly damaging	Het
Zzef1	T	C	11: 72,757,423 (GRCm39)		probably benign	Het

Other mutations in Ccndbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0141:Ccndbp1	UTSW	2	120,842,903 (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

Posted On

2015-04-16