Mutagenetix > Incidental Mutation

Incidental Mutation 'R7988:Ccnl1'

651577

Institutional Source

Beutler Lab

Gene Symbol

Ccnl1

Ensembl Gene

ENSMUSG00000027829

Gene Name

cyclin L1

Synonyms

ania-6a, 2610030E23Rik

MMRRC Submission

046029-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.712) question?

Stock #

R7988 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65853572-65865670 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65865282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 90 (I90F)

Ref Sequence

ENSEMBL: ENSMUSP00000029416 (fasta)

Gene Model

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

AlphaFold

Q52KE7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029416
AA Change: I90F

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029416
Gene: ENSMUSG00000027829
AA Change: I90F

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
AA Change: I90F

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000118377
Gene: ENSMUSG00000027829
AA Change: I90F

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
AA Change: I58F

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000118394
Gene: ENSMUSG00000027829
AA Change: I58F

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
AA Change: I90F

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000119229
Gene: ENSMUSG00000027829
AA Change: I90F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	C	T	6: 72,324,635 (GRCm39)	T56M	probably damaging	Het
Adamtsl5	C	T	10: 80,181,372 (GRCm39)	S36N	probably benign	Het
Adgrf5	A	T	17: 43,750,704 (GRCm39)		probably benign	Het
Ago1	A	G	4: 126,354,210 (GRCm39)	F200S	probably damaging	Het
Akr1cl	T	C	1: 65,063,865 (GRCm39)	D108G	possibly damaging	Het
Aopep	A	G	13: 63,208,954 (GRCm39)	D357G	probably benign	Het
Arhgef3	A	T	14: 27,123,743 (GRCm39)	D468V	probably benign	Het
Aspn	T	C	13: 49,705,353 (GRCm39)	C72R	possibly damaging	Het
Baz2b	T	C	2: 59,792,485 (GRCm39)	T548A	possibly damaging	Het
Birc6	G	A	17: 74,906,368 (GRCm39)		probably null	Het
Btnl2	A	T	17: 34,577,249 (GRCm39)	T135S	possibly damaging	Het
Ccnt1	T	C	15: 98,463,024 (GRCm39)		probably null	Het
Cemip	C	A	7: 83,652,616 (GRCm39)		probably benign	Het
Cfap45	A	G	1: 172,357,501 (GRCm39)	D85G	probably damaging	Het
Cfap54	T	A	10: 92,737,941 (GRCm39)	D2319V	unknown	Het
Cma1	T	C	14: 56,181,989 (GRCm39)	M14V	possibly damaging	Het
Cmtm1	T	C	8: 105,036,774 (GRCm39)		probably benign	Het
Col27a1	A	G	4: 63,249,559 (GRCm39)	H1738R	unknown	Het
Colq	T	A	14: 31,275,794 (GRCm39)	D41V	probably damaging	Het
Cubn	T	C	2: 13,337,166 (GRCm39)	T2437A	probably benign	Het
Dnah14	A	G	1: 181,611,139 (GRCm39)	D3755G	probably damaging	Het
Eprs1	A	G	1: 185,150,545 (GRCm39)	Y1349C	probably damaging	Het
Eps8	C	T	6: 137,505,569 (GRCm39)	R53Q	possibly damaging	Het
Fbf1	T	C	11: 116,043,594 (GRCm39)	D405G	probably benign	Het
Fen1	C	T	19: 10,177,674 (GRCm39)	E257K	possibly damaging	Het
Gstm7	A	T	3: 107,834,271 (GRCm39)	M198K	possibly damaging	Het
Hook3	A	T	8: 26,563,675 (GRCm39)	S190T	probably benign	Het
Htra4	A	C	8: 25,520,526 (GRCm39)		probably null	Het
Ighv1-15	T	C	12: 114,621,116 (GRCm39)	I70V	probably benign	Het
Ikzf4	T	A	10: 128,470,324 (GRCm39)	N452Y	probably damaging	Het
Insyn2a	T	G	7: 134,519,427 (GRCm39)	K368Q	probably damaging	Het
Iqcf5	T	A	9: 106,393,020 (GRCm39)	N92K	possibly damaging	Het
Itk	A	G	11: 46,246,661 (GRCm39)	Y186H	probably damaging	Het
Klhdc10	T	C	6: 30,446,690 (GRCm39)	S282P	probably benign	Het
Klhl18	T	A	9: 110,305,577 (GRCm39)	E29V	possibly damaging	Het
Ky	T	C	9: 102,402,614 (GRCm39)	S140P	probably damaging	Het
Lmntd2	T	C	7: 140,793,550 (GRCm39)	E112G	unknown	Het
Lrrc36	C	A	8: 106,178,718 (GRCm39)	D304E	possibly damaging	Het
Macf1	A	T	4: 123,400,273 (GRCm39)	F674Y	probably damaging	Het
Notch1	C	T	2: 26,361,013 (GRCm39)	D1111N	probably benign	Het
Osbpl8	T	G	10: 111,107,941 (GRCm39)	N312K	possibly damaging	Het
Otogl	C	T	10: 107,731,637 (GRCm39)	C168Y	probably damaging	Het
Phldb2	T	G	16: 45,645,934 (GRCm39)	T171P	probably benign	Het
Ppef2	A	T	5: 92,386,841 (GRCm39)	F365L	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Ryr1	G	A	7: 28,795,596 (GRCm39)	T1105I	probably benign	Het
Sclt1	T	A	3: 41,617,889 (GRCm39)	*29L	probably null	Het
Scn11a	T	C	9: 119,594,503 (GRCm39)	K1297E	probably damaging	Het
Serpinb9c	T	A	13: 33,334,262 (GRCm39)	Y288F	probably benign	Het
Setd1a	T	A	7: 127,385,366 (GRCm39)	M691K	probably benign	Het
Sftpc	T	C	14: 70,760,059 (GRCm39)	E66G	probably damaging	Het
Spata31h1	T	C	10: 82,131,934 (GRCm39)	I359V	probably benign	Het
Thnsl2	T	C	6: 71,118,303 (GRCm39)	T42A	probably benign	Het
Tram1	T	C	1: 13,640,199 (GRCm39)	D285G	probably benign	Het
Ttn	G	A	2: 76,675,374 (GRCm39)	P11137L	unknown	Het
Ttn	C	A	2: 76,727,103 (GRCm39)	V5821F	unknown	Het
Ttn	A	T	2: 76,566,584 (GRCm39)	I28103K	probably damaging	Het
Usp38	T	A	8: 81,740,945 (GRCm39)	M41L	probably benign	Het
Zcwpw1	T	G	5: 137,815,753 (GRCm39)	Y419D	possibly damaging	Het
Zfp407	G	A	18: 84,577,525 (GRCm39)	A1196V	possibly damaging	Het
Zfp446	T	A	7: 12,712,970 (GRCm39)	S103T	possibly 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
R6933:Ccnl1	UTSW	3	65,855,373 (GRCm39)	missense	probably benign	0.00
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
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'- TGACGAACGACTTGGAGTAG -3'
(R):5'- TGGAGCTCGCTGGAACTATG -3'

Sequencing Primer
(F):5'- GAACAGCACCTGCCCTGTAG -3'
(R):5'- TCGCTGGAACTATGGCGTC -3'

Posted On

2020-09-15