Mutagenetix > Incidental Mutation

Incidental Mutation 'R6933:Ccnl1'

540149

Institutional Source

Beutler Lab

Gene Symbol

Ccnl1

Ensembl Gene

ENSMUSG00000027829

Gene Name

cyclin L1

Synonyms

ania-6a, 2610030E23Rik

MMRRC Submission

045048-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.712) question?

Stock #

R6933 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65853572-65865670 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65855373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 366 (T366A)

Ref Sequence

ENSEMBL: ENSMUSP00000029416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029416] [ENSMUST00000129002] [ENSMUST00000135719] [ENSMUST00000154585]

AlphaFold

Q52KE7

Predicted Effect

probably benign
Transcript: ENSMUST00000029416
AA Change: T366A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000029416
Gene: ENSMUSG00000027829
AA Change: T366A

Domain	Start	End	E-Value	Type
low complexity region	2	45	N/A	INTRINSIC
CYCLIN	94	196	3.55e-11	SMART
Cyclin_C	205	320	7.79e-5	SMART
CYCLIN	209	293	9.01e-13	SMART
low complexity region	386	445	N/A	INTRINSIC
low complexity region	464	485	N/A	INTRINSIC
low complexity region	494	532	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129002

SMART Domains

Protein: ENSMUSP00000118377
Gene: ENSMUSG00000027829

Domain	Start	End	E-Value	Type
low complexity region	2	45	N/A	INTRINSIC
CYCLIN	94	174	3.93e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135719

SMART Domains

Protein: ENSMUSP00000118394
Gene: ENSMUSG00000027829

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
CYCLIN	62	142	3.93e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144810

Predicted Effect

probably benign
Transcript: ENSMUST00000145186

Predicted Effect

probably benign
Transcript: ENSMUST00000154585

SMART Domains

Protein: ENSMUSP00000119229
Gene: ENSMUSG00000027829

Domain	Start	End	E-Value	Type
low complexity region	2	45	N/A	INTRINSIC
CYCLIN	94	174	3.93e-4	SMART

Meta Mutation Damage Score

0.0671

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.7%

Validation Efficiency

93% (41/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	G	T	10: 69,740,042 (GRCm39)	K814N	probably damaging	Het
Anks1b	A	G	10: 89,905,352 (GRCm39)	H231R	probably damaging	Het
Anks6	A	G	4: 47,049,164 (GRCm39)	V247A	probably benign	Het
Antxrl	A	G	14: 33,797,728 (GRCm39)	N568D	possibly damaging	Het
Ccr2	T	G	9: 123,906,161 (GRCm39)	L147R	probably damaging	Het
Cdc40	A	G	10: 40,720,992 (GRCm39)	V318A	probably damaging	Het
Cfap61	T	A	2: 145,792,970 (GRCm39)		probably null	Het
Cfap97d2	CA	CAA	8: 13,784,865 (GRCm39)		probably null	Het
Clk3	A	T	9: 57,669,132 (GRCm39)	Y31N	probably damaging	Het
Cmya5	T	C	13: 93,231,644 (GRCm39)	Y1148C	probably benign	Het
Cntnap5b	T	C	1: 100,311,175 (GRCm39)	V927A	probably benign	Het
Dync1i1	A	C	6: 5,913,333 (GRCm39)	T217P	probably damaging	Het
Elovl4	A	G	9: 83,667,153 (GRCm39)	V68A	probably damaging	Het
Ep400	C	A	5: 110,813,728 (GRCm39)	K2890N	probably damaging	Het
Fam114a2	T	C	11: 57,374,897 (GRCm39)	I481V	probably benign	Het
Fam83e	A	G	7: 45,371,818 (GRCm39)	T72A	probably benign	Het
Fnip2	A	T	3: 79,425,418 (GRCm39)	M59K	probably benign	Het
Lrpprc	T	C	17: 85,030,131 (GRCm39)	K1089R	probably benign	Het
Mndal	T	A	1: 173,703,249 (GRCm39)	E52V	probably damaging	Het
Myom1	C	A	17: 71,359,666 (GRCm39)	T446K	probably damaging	Het
Nbea	A	T	3: 55,631,031 (GRCm39)	F2199I	possibly damaging	Het
Nr1h2	A	T	7: 44,199,437 (GRCm39)	L438Q	probably damaging	Het
Or52n2c	A	G	7: 104,574,330 (GRCm39)	C214R	probably benign	Het
Pet117	T	A	2: 144,211,019 (GRCm39)	V13E	possibly damaging	Het
Pnpla8	A	G	12: 44,330,210 (GRCm39)	E254G	probably benign	Het
Polr2a	T	C	11: 69,627,003 (GRCm39)	E1485G	probably damaging	Het
Polr2a	C	T	11: 69,630,293 (GRCm39)	R1258Q	probably benign	Het
Ptpn4	T	C	1: 119,700,878 (GRCm39)		probably benign	Het
Rapgef2	A	T	3: 78,993,266 (GRCm39)	Y889N	probably damaging	Het
Sbf1	G	A	15: 89,184,572 (GRCm39)	R1115C	probably damaging	Het
Sfpq	GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC	GCCGCCGCAGCAGCC	4: 126,915,419 (GRCm39)		probably benign	Het
Shank2	A	T	7: 143,645,515 (GRCm39)	T366S	probably benign	Het
Slc22a23	T	C	13: 34,489,163 (GRCm39)	I241V	probably benign	Het
Sox11	G	T	12: 27,391,493 (GRCm39)	S305R	probably damaging	Het
Sox21	T	C	14: 118,472,725 (GRCm39)	H108R	possibly damaging	Het
Taok1	A	T	11: 77,446,479 (GRCm39)	S417T	probably benign	Het
Tg	C	T	15: 66,636,158 (GRCm39)	R582C	possibly damaging	Het
Traf3	T	C	12: 111,221,658 (GRCm39)	V273A	possibly damaging	Het
Tspyl3	T	C	2: 153,067,203 (GRCm39)	T12A	probably benign	Het
Vmn2r86	A	T	10: 130,282,126 (GRCm39)	I830N	probably damaging	Het
Vps26b	A	T	9: 26,926,613 (GRCm39)	F129I	possibly damaging	Het
Washc3	A	G	10: 88,037,714 (GRCm39)	N24S	probably damaging	Het
Xirp2	C	A	2: 67,345,201 (GRCm39)	Q2481K	probably benign	Het
Zfhx4	T	C	3: 5,478,047 (GRCm39)	V3554A	probably damaging	Het

Other mutations in Ccnl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01969:Ccnl1	APN	3	65,855,908 (GRCm39)	splice site	probably benign
IGL02353:Ccnl1	APN	3	65,856,141 (GRCm39)	missense	probably damaging	1.00
IGL02360:Ccnl1	APN	3	65,856,141 (GRCm39)	missense	probably damaging	1.00
IGL02454:Ccnl1	APN	3	65,864,318 (GRCm39)	missense	probably damaging	0.99
R1598:Ccnl1	UTSW	3	65,854,191 (GRCm39)	missense	probably damaging	0.97
R1903:Ccnl1	UTSW	3	65,854,332 (GRCm39)	missense	possibly damaging	0.73
R2392:Ccnl1	UTSW	3	65,856,173 (GRCm39)	missense	probably damaging	1.00
R3879:Ccnl1	UTSW	3	65,856,179 (GRCm39)	missense	possibly damaging	0.85
R4607:Ccnl1	UTSW	3	65,854,131 (GRCm39)	utr 3 prime	probably benign
R4608:Ccnl1	UTSW	3	65,854,131 (GRCm39)	utr 3 prime	probably benign
R4739:Ccnl1	UTSW	3	65,854,092 (GRCm39)	utr 3 prime	probably benign
R4885:Ccnl1	UTSW	3	65,864,320 (GRCm39)	missense	probably damaging	1.00
R5833:Ccnl1	UTSW	3	65,855,922 (GRCm39)	missense	probably benign	0.23
R5933:Ccnl1	UTSW	3	65,855,763 (GRCm39)	missense	probably damaging	1.00
R7425:Ccnl1	UTSW	3	65,856,179 (GRCm39)	missense	probably damaging	1.00
R7943:Ccnl1	UTSW	3	65,864,326 (GRCm39)	missense	probably benign	0.30
R7988:Ccnl1	UTSW	3	65,865,282 (GRCm39)	missense	possibly damaging	0.64
R7990:Ccnl1	UTSW	3	65,854,314 (GRCm39)	missense	possibly damaging	0.73
R8137:Ccnl1	UTSW	3	65,865,291 (GRCm39)	missense	possibly damaging	0.96
R8690:Ccnl1	UTSW	3	65,855,165 (GRCm39)	missense	possibly damaging	0.73
R8736:Ccnl1	UTSW	3	65,865,447 (GRCm39)	missense	unknown
R8865:Ccnl1	UTSW	3	65,854,269 (GRCm39)	missense	probably benign	0.18
R8914:Ccnl1	UTSW	3	65,854,080 (GRCm39)	missense	unknown
R9186:Ccnl1	UTSW	3	65,865,426 (GRCm39)	missense	unknown
R9612:Ccnl1	UTSW	3	65,865,404 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAGAGTCCAAGGCCTGCAC -3'
(R):5'- GGCATTGGTCAGTTGCCTAG -3'

Sequencing Primer
(F):5'- AACGGGACCTGGTTCTTGAC -3'
(R):5'- TGGTCAGTTGCCTAGAAACC -3'

Posted On

2018-11-06