Mutagenetix > Incidental Mutation

Incidental Mutation 'R6074:Ccnt1'

482670

Institutional Source

Beutler Lab

Gene Symbol

Ccnt1

Ensembl Gene

ENSMUSG00000011960

Gene Name

cyclin T1

Synonyms

2810478G24Rik, CycT1

MMRRC Submission

044235-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.908) question?

Stock #

R6074 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98436570-98468340 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 98441205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 688 (Y688D)

Ref Sequence

ENSEMBL: ENSMUSP00000126874 (fasta)

Gene Model

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

AlphaFold

Q9QWV9

Predicted Effect

probably damaging
Transcript: ENSMUST00000012104
AA Change: Y688D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000012104
Gene: ENSMUSG00000011960
AA Change: Y688D

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: ENSMUST00000163180

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164294

Predicted Effect

probably benign
Transcript: ENSMUST00000168928

SMART Domains

Protein: ENSMUSP00000130286
Gene: ENSMUSG00000011960

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 damaging
Transcript: ENSMUST00000169707
AA Change: Y688D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126874
Gene: ENSMUSG00000011960
AA Change: Y688D

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

0.0930

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

97% (61/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amigo1	T	A	3: 108,099,009 (GRCm39)	C189*	probably null	Het
Auts2	G	T	5: 131,505,828 (GRCm39)		probably benign	Het
Cadps2	C	A	6: 23,626,670 (GRCm39)	W177L	probably damaging	Het
Camk2b	G	T	11: 5,939,635 (GRCm39)	P223Q	probably damaging	Het
Ccdc74a	C	A	16: 17,464,591 (GRCm39)	S9*	probably null	Het
Cdhr1	T	C	14: 36,801,600 (GRCm39)	N781S	probably benign	Het
Ceacam3	C	T	7: 16,885,484 (GRCm39)	T29I	probably benign	Het
Cep170b	T	C	12: 112,710,589 (GRCm39)	S1473P	probably damaging	Het
Col19a1	T	A	1: 24,565,564 (GRCm39)	T256S	unknown	Het
Eif2d	T	A	1: 131,094,079 (GRCm39)	D423E	probably damaging	Het
Fam13a	A	G	6: 58,966,723 (GRCm39)		probably null	Het
Gaa	G	A	11: 119,175,012 (GRCm39)	R871H	probably benign	Het
Galnt12	T	A	4: 47,112,405 (GRCm39)	V37D	probably damaging	Het
Glp2r	A	G	11: 67,637,640 (GRCm39)	S13P	unknown	Het
Gnptab	C	T	10: 88,268,940 (GRCm39)	L548F	probably damaging	Het
Heg1	C	T	16: 33,547,573 (GRCm39)	P787S	possibly damaging	Het
Hivep2	T	A	10: 14,007,485 (GRCm39)	M1361K	probably benign	Het
Hivep3	T	C	4: 119,954,891 (GRCm39)	I1069T	possibly damaging	Het
Hspg2	A	G	4: 137,268,046 (GRCm39)	D2121G	probably benign	Het
Htatip2	A	G	7: 49,422,322 (GRCm39)		probably null	Het
Ighv1-75	T	C	12: 115,798,007 (GRCm39)	S4G	probably benign	Het
Ip6k1	A	G	9: 107,901,308 (GRCm39)		probably benign	Het
Kcna6	A	G	6: 126,716,242 (GRCm39)	S216P	probably benign	Het
Kif21a	T	A	15: 90,865,095 (GRCm39)	T526S	probably benign	Het
Kng2	C	T	16: 22,819,346 (GRCm39)	G230D	probably benign	Het
Lgi2	A	T	5: 52,703,984 (GRCm39)	F216I	probably benign	Het
Lratd1	G	A	12: 14,200,512 (GRCm39)	H72Y	probably benign	Het
Lss	T	A	10: 76,379,693 (GRCm39)	N383K	probably damaging	Het
Mical1	T	C	10: 41,362,061 (GRCm39)	M929T	probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Nat8f4	A	G	6: 85,878,169 (GRCm39)	V118A	probably damaging	Het
Or10j5	T	A	1: 172,784,945 (GRCm39)	N194K	probably benign	Het
Or4p23	A	C	2: 88,576,566 (GRCm39)	L222R	probably damaging	Het
Or6b2	G	A	1: 92,407,497 (GRCm39)	T282M	probably benign	Het
Osbpl11	T	A	16: 33,030,335 (GRCm39)	S188T	probably benign	Het
Pea15a	C	T	1: 172,026,752 (GRCm39)	R85H	possibly damaging	Het
Ppp1r13b	A	G	12: 111,798,836 (GRCm39)	I919T	probably damaging	Het
Rasgrf1	A	G	9: 89,835,968 (GRCm39)	D232G	probably benign	Het
Rp1	A	G	1: 4,415,602 (GRCm39)	S1837P	probably benign	Het
Samd5	T	A	10: 9,550,334 (GRCm39)	Y125F	possibly damaging	Het
Skint5	T	C	4: 113,662,397 (GRCm39)	T597A	unknown	Het
Slc25a12	A	G	2: 71,106,798 (GRCm39)	F605L	probably benign	Het
Slc39a12	C	T	2: 14,412,290 (GRCm39)	Q321*	probably null	Het
Slc6a19	T	C	13: 73,837,882 (GRCm39)	S206G	probably benign	Het
Tacc2	T	A	7: 130,227,165 (GRCm39)	H1283Q	possibly damaging	Het
Thumpd3	A	G	6: 113,036,971 (GRCm39)	E290G	possibly damaging	Het
Timd2	C	T	11: 46,577,999 (GRCm39)	G44D	possibly damaging	Het
Tmem74	A	G	15: 43,730,134 (GRCm39)	V303A	possibly damaging	Het
Tpo	A	G	12: 30,128,186 (GRCm39)	V785A	probably benign	Het
Tpra1	T	A	6: 88,888,919 (GRCm39)	I367N	possibly damaging	Het
Txnrd2	T	C	16: 18,256,297 (GRCm39)	I95T	probably damaging	Het
Usp32	A	G	11: 84,885,399 (GRCm39)	V1216A	probably benign	Het
Usp54	C	A	14: 20,602,167 (GRCm39)	M1394I	probably benign	Het
Vmn2r13	A	G	5: 109,322,167 (GRCm39)	F177L	probably benign	Het
Vmn2r82	T	A	10: 79,232,377 (GRCm39)	V792E	probably damaging	Het
Wdfy4	C	T	14: 32,805,596 (GRCm39)		probably null	Het
Wnk2	A	T	13: 49,204,875 (GRCm39)	C458S	probably damaging	Het
Xkr6	T	G	14: 63,844,519 (GRCm39)	F181V	possibly damaging	Het
Zfp212	T	A	6: 47,903,986 (GRCm39)	C149*	probably null	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp661	A	G	2: 127,419,793 (GRCm39)	S116P	probably benign	Het
Zfp770	A	G	2: 114,026,870 (GRCm39)	Y400H	possibly 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
R2066: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
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'- CCTTAGGTGACAGATTTCATAAGGG -3'
(R):5'- ACAAGTGGCCTGCCCTTTTC -3'

Posted On

2017-07-14