Mutagenetix > Incidental Mutation

Incidental Mutation 'R2066:Ccnt1'

226704

Institutional Source

Beutler Lab

Gene Symbol

Ccnt1

Ensembl Gene

ENSMUSG00000011960

Gene Name

cyclin T1

Synonyms

2810478G24Rik, CycT1

MMRRC Submission

040071-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.911) question?

Stock #

R2066 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98436570-98468340 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98449823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 156 (H156Q)

Ref Sequence

ENSEMBL: ENSMUSP00000126874 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012104] [ENSMUST00000168928] [ENSMUST00000169707]

AlphaFold

Q9QWV9

Predicted Effect

probably benign
Transcript: ENSMUST00000012104
AA Change: H156Q

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000012104
Gene: ENSMUSG00000011960
AA Change: H156Q

Domain	Start	End	E-Value	Type
CYCLIN	43	142	5.89e-17	SMART
SCOP:d1jkw_2	152	257	1e-24	SMART
Blast:CYCLIN	155	243	2e-54	BLAST
low complexity region	308	326	N/A	INTRINSIC
coiled coil region	388	419	N/A	INTRINSIC
low complexity region	512	529	N/A	INTRINSIC
low complexity region	559	570	N/A	INTRINSIC
low complexity region	706	723	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164294

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164565

Predicted Effect

probably benign
Transcript: ENSMUST00000168928
AA Change: H156Q

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000130286
Gene: ENSMUSG00000011960
AA Change: H156Q

Domain	Start	End	E-Value	Type
CYCLIN	43	142	5.89e-17	SMART
Blast:CYCLIN	155	182	3e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169674

Predicted Effect

probably benign
Transcript: ENSMUST00000169707
AA Change: H156Q

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126874
Gene: ENSMUSG00000011960
AA Change: H156Q

Domain	Start	End	E-Value	Type
CYCLIN	43	142	5.89e-17	SMART
SCOP:d1jkw_2	152	257	1e-24	SMART
Blast:CYCLIN	155	243	2e-54	BLAST
low complexity region	308	326	N/A	INTRINSIC
coiled coil region	388	419	N/A	INTRINSIC
low complexity region	512	529	N/A	INTRINSIC
low complexity region	559	570	N/A	INTRINSIC
low complexity region	706	723	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170452

Meta Mutation Damage Score

0.1563

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the highly conserved cyclin C subfamily. The encoded protein tightly associates with cyclin-dependent kinase 9, and is a major subunit of positive transcription elongation factor b (p-TEFb). In humans, there are multiple forms of positive transcription elongation factor b, which may include one of several different cyclins along with cyclin-dependent kinase 9. The complex containing the encoded cyclin and cyclin-dependent kinase 9 acts as a cofactor of human immunodeficiency virus type 1 (HIV-1) Tat protein, and is both necessary and sufficient for full activation of viral transcription. This cyclin and its kinase partner are also involved in triggering transcript elongation through phosphorylation of the carboxy-terminal domain of the largest RNA polymerase II subunit. Overexpression of this gene is implicated in tumor growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,583,115 (GRCm39)		probably benign	Het
Acadl	C	T	1: 66,880,905 (GRCm39)		probably null	Het
Acss1	G	A	2: 150,510,051 (GRCm39)	Q23*	probably null	Het
Afap1l1	A	T	18: 61,872,193 (GRCm39)		probably null	Het
Akt3	A	G	1: 176,930,551 (GRCm39)	S136P	possibly damaging	Het
Amy2a1	T	C	3: 113,324,217 (GRCm39)	I108V	probably benign	Het
Ano5	T	G	7: 51,235,134 (GRCm39)	L639R	probably damaging	Het
Arhgap26	T	C	18: 39,439,781 (GRCm39)	S71P	probably damaging	Het
B3gnt2	A	G	11: 22,786,735 (GRCm39)	L151P	probably damaging	Het
Bach1	A	T	16: 87,526,513 (GRCm39)	K658N	probably damaging	Het
Bdnf	C	A	2: 109,554,247 (GRCm39)	T207K	probably damaging	Het
Bod1l	G	T	5: 41,962,499 (GRCm39)	T2746K	probably damaging	Het
Brwd1	A	G	16: 95,847,665 (GRCm39)	S652P	probably benign	Het
Clasp2	T	A	9: 113,735,225 (GRCm39)	I1021N	possibly damaging	Het
Cnep1r1	G	T	8: 88,845,445 (GRCm39)		probably benign	Het
Cntn6	C	T	6: 104,838,783 (GRCm39)	R946*	probably null	Het
Dnaaf3	T	C	7: 4,526,798 (GRCm39)	I426M	possibly damaging	Het
Dnajc13	A	T	9: 104,098,640 (GRCm39)	I471N	probably benign	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Emx2	A	G	19: 59,450,130 (GRCm39)	N149S	probably benign	Het
Fbln7	G	T	2: 128,719,386 (GRCm39)	R61L	probably damaging	Het
Fgb	C	A	3: 82,956,996 (GRCm39)	D25Y	probably benign	Het
Filip1	A	G	9: 79,727,498 (GRCm39)	S374P	probably damaging	Het
Fry	T	A	5: 150,293,584 (GRCm39)		probably benign	Het
Gm12695	T	C	4: 96,657,963 (GRCm39)	T69A	probably benign	Het
Gm2959	A	G	14: 42,235,658 (GRCm39)		noncoding transcript	Het
Gm9912	T	C	3: 148,890,795 (GRCm39)	T113A	unknown	Het
Hdlbp	A	G	1: 93,349,602 (GRCm39)		probably benign	Het
Hunk	G	A	16: 90,278,133 (GRCm39)		probably null	Het
Ifnb1	T	A	4: 88,440,996 (GRCm39)	I6F	possibly damaging	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Ints1	A	G	5: 139,753,251 (GRCm39)	V720A	probably benign	Het
Invs	T	A	4: 48,396,287 (GRCm39)	L320Q	probably damaging	Het
Jpt2	G	A	17: 25,167,713 (GRCm39)	Q79*	probably null	Het
Lingo2	A	G	4: 35,709,179 (GRCm39)	L267P	probably benign	Het
Lonp2	A	G	8: 87,392,403 (GRCm39)	T490A	probably damaging	Het
Meiob	G	T	17: 25,037,290 (GRCm39)	R56L	probably damaging	Het
Mindy3	A	T	2: 12,424,060 (GRCm39)	S2T	probably damaging	Het
Mrm3	A	T	11: 76,141,147 (GRCm39)	D385V	probably damaging	Het
Mrto4	T	C	4: 139,076,334 (GRCm39)	K86E	probably benign	Het
Naf1	A	G	8: 67,340,432 (GRCm39)	D414G	probably damaging	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Nbea	A	G	3: 55,875,567 (GRCm39)	V1701A	probably damaging	Het
Nipal4	T	G	11: 46,047,622 (GRCm39)	D104A	probably damaging	Het
Npas4	A	G	19: 5,037,442 (GRCm39)	V284A	probably damaging	Het
Nup133	C	A	8: 124,641,314 (GRCm39)	D869Y	probably damaging	Het
Obscn	G	A	11: 59,026,558 (GRCm39)	A215V	possibly damaging	Het
Or4c113	A	G	2: 88,885,243 (GRCm39)	Y176H	probably damaging	Het
Or8b12i	G	T	9: 20,082,850 (GRCm39)	Q6K	probably benign	Het
Or8g24	T	C	9: 38,989,510 (GRCm39)	Y177C	probably damaging	Het
Pgs1	G	A	11: 117,905,396 (GRCm39)		probably benign	Het
Phc2	T	C	4: 128,640,929 (GRCm39)	F672S	probably damaging	Het
Phldb2	A	T	16: 45,591,121 (GRCm39)	L970Q	probably damaging	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Ppip5k1	A	G	2: 121,173,352 (GRCm39)		probably benign	Het
Prune2	A	G	19: 17,098,042 (GRCm39)	D1182G	possibly damaging	Het
Psg25	G	A	7: 18,263,487 (GRCm39)	T112I	probably damaging	Het
Sec61g	T	C	11: 16,458,124 (GRCm39)	T24A	probably benign	Het
Skint1	T	A	4: 111,882,730 (GRCm39)	V258D	probably benign	Het
Sorbs1	T	C	19: 40,353,472 (GRCm39)		probably null	Het
Sox2	C	A	3: 34,705,456 (GRCm39)	Q298K	possibly damaging	Het
Spatc1	T	A	15: 76,167,737 (GRCm39)		probably null	Het
Szt2	T	C	4: 118,231,177 (GRCm39)	M2529V	unknown	Het
Thrap3	T	C	4: 126,069,189 (GRCm39)	Y654C	possibly damaging	Het
Tpp2	T	G	1: 44,017,598 (GRCm39)	I734S	possibly damaging	Het
Troap	T	C	15: 98,980,344 (GRCm39)	L508P	probably benign	Het
Ttc28	C	A	5: 111,373,799 (GRCm39)	F1078L	probably benign	Het
Ttn	T	C	2: 76,544,717 (GRCm39)	N32795S	probably damaging	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Ugt2b36	T	C	5: 87,240,100 (GRCm39)	E95G	probably benign	Het
Vmn1r55	A	G	7: 5,150,048 (GRCm39)	V125A	possibly damaging	Het
Vstm2a	A	T	11: 16,211,483 (GRCm39)	I98F	probably benign	Het
Zdhhc13	T	A	7: 48,466,175 (GRCm39)	V284D	probably benign	Het
Zfp668	C	A	7: 127,466,203 (GRCm39)	R327L	probably damaging	Het
Zgrf1	T	C	3: 127,406,999 (GRCm39)	C1589R	probably damaging	Het

Other mutations in Ccnt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Ccnt1	APN	15	98,462,990 (GRCm39)	missense	possibly damaging	0.75
IGL00900:Ccnt1	APN	15	98,452,514 (GRCm39)	missense	probably damaging	1.00
IGL01798:Ccnt1	APN	15	98,442,122 (GRCm39)	missense	probably benign	0.00
IGL02126:Ccnt1	APN	15	98,465,484 (GRCm39)	missense	probably damaging	1.00
IGL02341:Ccnt1	APN	15	98,444,664 (GRCm39)	missense	possibly damaging	0.92
Lifecycle	UTSW	15	98,463,005 (GRCm39)	nonsense	probably null
R0049:Ccnt1	UTSW	15	98,462,960 (GRCm39)	missense	probably benign	0.05
R0049:Ccnt1	UTSW	15	98,462,960 (GRCm39)	missense	probably benign	0.05
R1116:Ccnt1	UTSW	15	98,442,219 (GRCm39)	missense	probably damaging	1.00
R2063:Ccnt1	UTSW	15	98,449,823 (GRCm39)	missense	probably benign	0.25
R2065:Ccnt1	UTSW	15	98,449,823 (GRCm39)	missense	probably benign	0.25
R2068:Ccnt1	UTSW	15	98,449,823 (GRCm39)	missense	probably benign	0.25
R2180:Ccnt1	UTSW	15	98,441,481 (GRCm39)	missense	possibly damaging	0.74
R3917:Ccnt1	UTSW	15	98,441,940 (GRCm39)	missense	probably benign	0.00
R4805:Ccnt1	UTSW	15	98,442,189 (GRCm39)	missense	probably benign	0.00
R4830:Ccnt1	UTSW	15	98,441,332 (GRCm39)	missense	probably damaging	1.00
R4836:Ccnt1	UTSW	15	98,465,444 (GRCm39)	missense	probably damaging	0.96
R5320:Ccnt1	UTSW	15	98,442,124 (GRCm39)	missense	probably benign	0.35
R5740:Ccnt1	UTSW	15	98,442,381 (GRCm39)	missense	probably benign	0.01
R5870:Ccnt1	UTSW	15	98,441,394 (GRCm39)	nonsense	probably null
R6074:Ccnt1	UTSW	15	98,441,205 (GRCm39)	missense	probably damaging	1.00
R6413:Ccnt1	UTSW	15	98,441,850 (GRCm39)	missense	probably benign	0.01
R6610:Ccnt1	UTSW	15	98,462,982 (GRCm39)	missense	probably damaging	1.00
R7260:Ccnt1	UTSW	15	98,463,005 (GRCm39)	nonsense	probably null
R7752:Ccnt1	UTSW	15	98,441,797 (GRCm39)	missense	probably benign	0.00
R7901:Ccnt1	UTSW	15	98,441,797 (GRCm39)	missense	probably benign	0.00
R7988:Ccnt1	UTSW	15	98,463,024 (GRCm39)	splice site	probably null
R8699:Ccnt1	UTSW	15	98,462,995 (GRCm39)	missense	probably damaging	0.98
R8959:Ccnt1	UTSW	15	98,441,096 (GRCm39)	utr 3 prime	probably benign
R9143:Ccnt1	UTSW	15	98,441,688 (GRCm39)	missense	probably damaging	1.00
R9153:Ccnt1	UTSW	15	98,441,159 (GRCm39)	missense	probably benign	0.28
R9331:Ccnt1	UTSW	15	98,441,097 (GRCm39)	nonsense	probably null
R9549:Ccnt1	UTSW	15	98,441,574 (GRCm39)	missense	probably damaging	0.99
R9684:Ccnt1	UTSW	15	98,446,566 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTTGTGAAGTACCCCAACCAG -3'
(R):5'- AGTCACTTAGTCTCTGCACAG -3'

Sequencing Primer
(F):5'- TGTATGGCTCACAGTCCAAG -3'
(R):5'- CTGGCCATTAATAATTCAGACA -3'

Posted On

2014-09-17