Mutagenetix > Incidental Mutation

Incidental Mutation 'R4785:Ccndbp1'

366917

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

042417-MU

Accession Numbers

Essential gene?

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

Stock #

R4785 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120838884-120847385 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120839003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 5 (T5S)

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 benign
Transcript: ENSMUST00000060455
AA Change: T5S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000062496
Gene: ENSMUSG00000023572
AA Change: T5S

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

noncoding transcript
Transcript: ENSMUST00000083949

Predicted Effect

probably benign
Transcript: ENSMUST00000099488
AA Change: T5S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000097087
Gene: ENSMUSG00000023572
AA Change: T5S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000099489

SMART Domains

Protein: ENSMUSP00000097088
Gene: ENSMUSG00000023572

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

probably benign
Transcript: ENSMUST00000171260
AA Change: T5S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000125961
Gene: ENSMUSG00000023572
AA Change: T5S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135599

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151532

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135036

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

0.0798

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

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: 145 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	T	C	13: 59,839,406 (GRCm39)	D13G	probably benign	Het
4930442H23Rik	C	T	10: 81,018,978 (GRCm39)		probably benign	Het
Adamts13	T	A	2: 26,873,054 (GRCm39)	S341T	probably damaging	Het
Adamts2	A	G	11: 50,683,549 (GRCm39)	I944V	probably benign	Het
Adcy3	A	G	12: 4,256,542 (GRCm39)	T783A	probably benign	Het
Ago3	A	T	4: 126,262,296 (GRCm39)	M418K	probably benign	Het
Alpk1	G	T	3: 127,481,241 (GRCm39)	N175K	possibly damaging	Het
Als2	A	G	1: 59,254,472 (GRCm39)	V295A	probably benign	Het
Anapc13	T	C	9: 102,507,020 (GRCm39)	I11T	probably benign	Het
Ankrd12	T	A	17: 66,289,994 (GRCm39)	N1813I	probably damaging	Het
Anks1b	A	T	10: 90,750,612 (GRCm39)	I176F	probably null	Het
Ap3d1	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	10: 80,548,612 (GRCm39)		probably null	Het
Arhgap32	T	C	9: 32,172,076 (GRCm39)	C1619R	probably damaging	Het
Arhgap32	A	G	9: 32,040,949 (GRCm39)	D67G	probably damaging	Het
Atp1a4	A	T	1: 172,081,677 (GRCm39)	Y158*	probably null	Het
Atp8b5	A	T	4: 43,356,980 (GRCm39)	D576V	probably damaging	Het
Atrnl1	A	G	19: 57,617,590 (GRCm39)	I122V	probably damaging	Het
B430203G13Rik	A	T	12: 17,974,520 (GRCm39)		noncoding transcript	Het
Baz1b	T	G	5: 135,246,267 (GRCm39)	L572R	possibly damaging	Het
Ccn3	A	T	15: 54,615,603 (GRCm39)		probably null	Het
Ccnd2	T	C	6: 127,125,761 (GRCm39)	T92A	possibly damaging	Het
Ccr2	G	A	9: 123,906,409 (GRCm39)	V230I	probably benign	Het
Cct4	T	A	11: 22,952,866 (GRCm39)	V514E	probably damaging	Het
Cep152	A	G	2: 125,428,249 (GRCm39)		probably null	Het
Cflar	C	T	1: 58,791,726 (GRCm39)	T343M	probably benign	Het
Chrm5	A	C	2: 112,309,930 (GRCm39)	N395K	probably benign	Het
Chrna10	G	A	7: 101,762,426 (GRCm39)	P255S	possibly damaging	Het
Chrna6	T	A	8: 27,897,134 (GRCm39)	I248F	probably damaging	Het
Clip1	T	C	5: 123,717,356 (GRCm39)	D1387G	probably damaging	Het
Clstn3	T	C	6: 124,414,331 (GRCm39)		probably null	Het
Cntnap5a	C	T	1: 116,029,295 (GRCm39)	R250W	probably benign	Het
Col12a1	C	A	9: 79,585,776 (GRCm39)	V1228F	possibly damaging	Het
Cxcr5	T	C	9: 44,424,638 (GRCm39)	T340A	probably benign	Het
Cyp2a4	G	A	7: 26,012,300 (GRCm39)	R361K	probably damaging	Het
Dnah1	T	A	14: 30,985,436 (GRCm39)	K3818N	probably damaging	Het
Dnah3	T	A	7: 119,567,047 (GRCm39)	K2393M	probably benign	Het
Dpy19l1	A	T	9: 24,336,119 (GRCm39)	L529Q	probably damaging	Het
Eif4g2	C	T	7: 110,676,003 (GRCm39)	R399H	probably damaging	Het
Elapor1	A	T	3: 108,365,543 (GRCm39)		probably benign	Het
Fam76a	A	T	4: 132,629,428 (GRCm39)		probably null	Het
Fam76a	A	G	4: 132,643,501 (GRCm39)	Y78H	probably damaging	Het
Fbn1	A	T	2: 125,166,839 (GRCm39)	C2026S	probably damaging	Het
Fbxo4	T	C	15: 3,998,523 (GRCm39)	T312A	probably benign	Het
Fbxw26	A	G	9: 109,553,868 (GRCm39)	V257A	possibly damaging	Het
Fhip1a	G	T	3: 85,595,877 (GRCm39)	T115K	probably damaging	Het
Flnb	A	T	14: 7,905,701 (GRCm38)	E1150D	probably benign	Het
Fndc3c1	A	T	X: 105,481,308 (GRCm39)	S661R	possibly damaging	Het
Gba2	A	C	4: 43,568,315 (GRCm39)	L684R	probably damaging	Het
Gbf1	G	T	19: 46,256,834 (GRCm39)	C812F	possibly damaging	Het
Glt8d2	A	T	10: 82,496,583 (GRCm39)	D158E	probably damaging	Het
Golga2	T	A	2: 32,187,168 (GRCm39)	N89K	probably damaging	Het
Got1	A	G	19: 43,491,376 (GRCm39)	I358T	possibly damaging	Het
Gpx6	C	T	13: 21,496,434 (GRCm39)	Q3*	probably null	Het
Grin1	T	A	2: 25,182,393 (GRCm39)	H956L	possibly damaging	Het
Grin2d	A	G	7: 45,506,205 (GRCm39)	V562A	probably damaging	Het
Grm6	A	G	11: 50,748,104 (GRCm39)	I405V	probably benign	Het
Hcar2	C	G	5: 124,002,513 (GRCm39)	G330A	probably benign	Het
Hcfc1	T	C	X: 73,009,552 (GRCm39)	K20E	probably damaging	Het
Iars1	T	A	13: 49,878,139 (GRCm39)	Y888N	probably damaging	Het
Ifi206	A	T	1: 173,308,432 (GRCm39)	H521Q	probably benign	Het
Impg1	A	G	9: 80,305,732 (GRCm39)	S112P	probably benign	Het
Incenp	C	A	19: 9,855,054 (GRCm39)	R619M	unknown	Het
Incenp	T	A	19: 9,855,055 (GRCm39)	R619W	unknown	Het
Kat2b	A	G	17: 53,960,231 (GRCm39)	E513G	possibly damaging	Het
Kbtbd12	G	T	6: 88,595,003 (GRCm39)	L276I	probably damaging	Het
Kctd9	T	A	14: 67,971,613 (GRCm39)	D229E	probably damaging	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Kif2b	G	A	11: 91,467,254 (GRCm39)	P343L	probably benign	Het
Kntc1	T	G	5: 123,954,825 (GRCm39)	M2081R	possibly damaging	Het
Lamc1	T	C	1: 153,107,486 (GRCm39)	N1231S	probably damaging	Het
Lclat1	T	A	17: 73,547,065 (GRCm39)	Y327*	probably null	Het
Lgals3bp	G	A	11: 118,284,340 (GRCm39)	T413I	probably damaging	Het
Lin54	A	G	5: 100,607,597 (GRCm39)	I250T	probably damaging	Het
Lrp1	T	C	10: 127,394,002 (GRCm39)	N2621S	probably benign	Het
Lrrtm3	T	A	10: 63,923,781 (GRCm39)	H462L	probably benign	Het
Lysmd1	A	G	3: 95,042,297 (GRCm39)	Y57C	probably damaging	Het
Mccc1	C	A	3: 36,030,022 (GRCm39)	M429I	probably damaging	Het
Metrnl	A	G	11: 121,598,750 (GRCm39)	E40G	probably benign	Het
Mios	T	A	6: 8,222,464 (GRCm39)	M466K	probably benign	Het
Mrgpra1	A	G	7: 46,985,218 (GRCm39)	S154P	probably damaging	Het
Mrpl24	T	C	3: 87,829,357 (GRCm39)		probably null	Het
Myo1f	A	G	17: 33,817,165 (GRCm39)	N736S	possibly damaging	Het
Myo1h	A	G	5: 114,498,660 (GRCm39)	I919V	possibly damaging	Het
Nampt	T	C	12: 32,898,713 (GRCm39)	L443P	possibly damaging	Het
Ndufaf2	C	G	13: 108,189,314 (GRCm39)	A145P	probably damaging	Het
Nek10	A	T	14: 14,855,714 (GRCm38)	T403S	probably benign	Het
Nme8	C	A	13: 19,842,100 (GRCm39)	V219L	probably damaging	Het
Nps	T	A	7: 134,870,517 (GRCm39)	L13Q	probably damaging	Het
Nutm1	G	A	2: 112,079,281 (GRCm39)	A878V	probably benign	Het
Ogdh	T	C	11: 6,299,875 (GRCm39)	F794L	probably damaging	Het
Or14a259	C	A	7: 86,012,943 (GRCm39)	G201C	probably damaging	Het
Or14c39	T	C	7: 86,343,736 (GRCm39)	L24P	probably damaging	Het
Or2t35	A	C	14: 14,407,729 (GRCm38)	Y167S	possibly damaging	Het
Or4f56	A	T	2: 111,703,395 (GRCm39)	D268E	possibly damaging	Het
Or5a3	A	T	19: 12,400,341 (GRCm39)	I223F	probably damaging	Het
Or5g29	A	G	2: 85,421,282 (GRCm39)	T133A	probably benign	Het
Pik3cg	T	C	12: 32,255,198 (GRCm39)	E263G	probably damaging	Het
Pikfyve	A	G	1: 65,307,005 (GRCm39)	T1798A	probably benign	Het
Poldip3	T	C	15: 83,015,702 (GRCm39)	Y305C	probably damaging	Het
Prkdc	T	C	16: 15,466,840 (GRCm39)	I107T	probably benign	Het
Prmt2	A	G	10: 76,062,055 (GRCm39)	I50T	probably damaging	Het
Ptprd	T	C	4: 76,058,790 (GRCm39)	T168A	probably benign	Het
Pudp	A	G	18: 50,701,136 (GRCm39)	V199A	probably damaging	Het
Rab3c	T	C	13: 110,198,434 (GRCm39)	E198G	probably benign	Het
Rasl12	A	G	9: 65,320,730 (GRCm39)	Y156C	probably damaging	Het
Rbm12	T	C	2: 155,938,484 (GRCm39)	D596G	possibly damaging	Het
Rbm6	T	C	9: 107,664,551 (GRCm39)	E694G	probably benign	Het
Rif1	T	C	2: 52,002,759 (GRCm39)	V2071A	probably damaging	Het
Ripply2	A	T	9: 86,901,849 (GRCm39)	N125I	probably damaging	Het
Rps6kc1	A	T	1: 190,482,385 (GRCm39)	H284Q	probably benign	Het
Scara3	A	T	14: 66,190,950 (GRCm39)	M1K	probably null	Het
Sfswap	A	G	5: 129,590,147 (GRCm39)	T215A	probably damaging	Het
Shroom2	A	C	X: 151,443,903 (GRCm39)	F421V	probably benign	Het
Sipa1l3	A	G	7: 29,077,066 (GRCm39)	V902A	probably damaging	Het
Slamf8	G	T	1: 172,411,781 (GRCm39)	P238Q	probably damaging	Het
Slc44a3	T	C	3: 121,320,723 (GRCm39)	T93A	possibly damaging	Het
Slc5a7	A	T	17: 54,585,728 (GRCm39)	I363N	probably damaging	Het
Slc66a1	G	T	4: 139,027,312 (GRCm39)	H343Q	probably benign	Het
Slc7a2	T	A	8: 41,364,095 (GRCm39)	M436K	probably benign	Het
Spindoc	A	G	19: 7,351,456 (GRCm39)	S223P	probably benign	Het
Stk11ip	T	C	1: 75,506,925 (GRCm39)	F669L	possibly damaging	Het
Sun3	G	A	11: 8,988,266 (GRCm39)	L19F	probably benign	Het
Sycp1	C	A	3: 102,760,805 (GRCm39)	A703S	possibly damaging	Het
Tas2r139	T	G	6: 42,118,218 (GRCm39)	F117V	probably damaging	Het
Tdrd6	T	C	17: 43,936,467 (GRCm39)	Y1527C	probably damaging	Het
Tenm4	A	C	7: 96,423,253 (GRCm39)	K683Q	probably damaging	Het
Tfeb	T	A	17: 48,099,152 (GRCm39)		probably null	Het
Tmco4	T	C	4: 138,725,350 (GRCm39)	S121P	probably damaging	Het
Tmprss11d	C	T	5: 86,454,140 (GRCm39)	V222M	probably damaging	Het
Tnks1bp1	T	C	2: 84,893,378 (GRCm39)	W440R	probably damaging	Het
Trp53bp2	A	G	1: 182,276,562 (GRCm39)	T848A	probably benign	Het
Tssk1	G	A	16: 17,712,926 (GRCm39)	R237H	probably benign	Het
Ttll4	A	T	1: 74,718,166 (GRCm39)	T6S	possibly damaging	Het
Ttn	G	T	2: 76,552,141 (GRCm39)	Y29419*	probably null	Het
Ttn	A	G	2: 76,599,947 (GRCm39)	Y19076H	probably damaging	Het
Ubr3	T	A	2: 69,789,947 (GRCm39)	V867D	probably damaging	Het
Usp29	A	G	7: 6,964,390 (GRCm39)	T78A	probably damaging	Het
Utrn	T	G	10: 12,530,489 (GRCm39)	Q2108P	probably benign	Het
Vcan	T	C	13: 89,853,908 (GRCm39)	N351D	probably damaging	Het
Vmn1r61	A	T	7: 5,614,124 (GRCm39)	Y63*	probably null	Het
Vmn1r61	A	T	7: 5,614,126 (GRCm39)	Y63N	probably benign	Het
Vmn1r85	A	T	7: 12,818,788 (GRCm39)	W119R	probably damaging	Het
Zbtb21	A	C	16: 97,751,655 (GRCm39)	V190G	possibly damaging	Het
Zfp157	C	A	5: 138,443,051 (GRCm39)	T14N	probably damaging	Het
Zfp942	A	T	17: 22,148,400 (GRCm39)	H76Q	probably damaging	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
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
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'- AAGTCTCTAGATCTGCGGGG -3'
(R):5'- AACGGCAGACACTCACTGAG -3'

Sequencing Primer
(F):5'- TAGATCTGCGGGGAGGGC -3'
(R):5'- GGCAGACACTCACTGAGTCTTC -3'

Posted On

2015-12-29