Mutagenetix > Incidental Mutation

Incidental Mutation 'R0486:Cwf19l1'

42313

Institutional Source

Beutler Lab

Gene Symbol

Cwf19l1

Ensembl Gene

ENSMUSG00000025200

Gene Name

CWF19 like cell cycle control factor 1

Synonyms

2610528C06Rik

MMRRC Submission

038685-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.822) question?

Stock #

R0486 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44097076-44124315 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44103129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 362 (V362A)

Ref Sequence

ENSEMBL: ENSMUSP00000026218 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026218]

AlphaFold

Q8CI33

Predicted Effect

probably benign
Transcript: ENSMUST00000026218
AA Change: V362A

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000026218
Gene: ENSMUSG00000025200
AA Change: V362A

Domain	Start	End	E-Value	Type
Pfam:CwfJ_C_1	314	433	5.6e-37	PFAM
Pfam:CwfJ_C_2	439	534	2.1e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104203

Meta Mutation Damage Score

0.1136

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

98% (65/66)

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 CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	T	C	4: 40,177,783 (GRCm39)	L268P	probably damaging	Het
Adam22	A	T	5: 8,380,048 (GRCm39)	H83Q	probably damaging	Het
Anln	T	C	9: 22,264,122 (GRCm39)	D886G	probably benign	Het
Arhgef11	T	A	3: 87,596,159 (GRCm39)		probably null	Het
Ark2c	T	A	18: 77,571,950 (GRCm39)	Q91L	probably damaging	Het
Arl8b	A	T	6: 108,792,287 (GRCm39)	D116V	possibly damaging	Het
BC051665	C	T	13: 60,931,859 (GRCm39)	G180D	probably damaging	Het
Bloc1s2	A	G	19: 44,131,589 (GRCm39)		probably benign	Het
Ccdc185	T	G	1: 182,575,424 (GRCm39)	S422R	possibly damaging	Het
Cd101	T	C	3: 100,915,408 (GRCm39)	K720E	possibly damaging	Het
Cdh23	C	A	10: 60,222,725 (GRCm39)	A1236S	probably damaging	Het
Chd1	G	A	17: 15,954,604 (GRCm39)	A491T	probably damaging	Het
Chdh	T	C	14: 29,754,815 (GRCm39)	V275A	possibly damaging	Het
Cmtm2b	A	T	8: 105,057,047 (GRCm39)	I136F	probably damaging	Het
Cps1	T	C	1: 67,204,551 (GRCm39)	V457A	probably damaging	Het
Cyp4f17	T	C	17: 32,743,797 (GRCm39)		probably benign	Het
Cyp4f18	C	A	8: 72,749,861 (GRCm39)	V263L	probably benign	Het
Dclre1a	A	G	19: 56,529,922 (GRCm39)		probably benign	Het
Dpp6	T	C	5: 27,866,640 (GRCm39)	I446T	probably benign	Het
F11r	T	C	1: 171,288,156 (GRCm39)	W61R	probably damaging	Het
Fam120b	C	T	17: 15,646,550 (GRCm39)		probably benign	Het
Fastkd2	T	C	1: 63,791,499 (GRCm39)	V669A	possibly damaging	Het
Foxg1	T	C	12: 49,431,314 (GRCm39)		probably benign	Het
Foxo3	A	G	10: 42,073,477 (GRCm39)	Y347H	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gbp7	C	A	3: 142,252,078 (GRCm39)		probably benign	Het
Glipr1	T	C	10: 111,832,754 (GRCm39)		probably benign	Het
Gm11555	A	G	11: 99,540,986 (GRCm39)	S8P	unknown	Het
H6pd	G	A	4: 150,067,393 (GRCm39)		probably benign	Het
Haus8	C	A	8: 71,709,181 (GRCm39)	G76W	probably damaging	Het
Haus8	C	T	8: 71,709,182 (GRCm39)	M75I	probably benign	Het
Kcnj13	C	A	1: 87,314,752 (GRCm39)	V157L	probably damaging	Het
Kcnt2	T	A	1: 140,437,218 (GRCm39)	C550*	probably null	Het
Kdm5d	A	G	Y: 927,107 (GRCm39)	N615S	probably damaging	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Ncapd2	G	A	6: 125,160,990 (GRCm39)	R292*	probably null	Het
Ngef	T	A	1: 87,406,848 (GRCm39)	N640I	probably damaging	Het
Nhlrc3	T	C	3: 53,359,858 (GRCm39)	Y335C	probably damaging	Het
Nipbl	A	T	15: 8,368,354 (GRCm39)		probably benign	Het
Nop2	A	G	6: 125,117,636 (GRCm39)	K434R	probably null	Het
Nr4a3	T	C	4: 48,056,525 (GRCm39)		probably benign	Het
Or8b35	A	G	9: 37,903,998 (GRCm39)	N70S	possibly damaging	Het
Piezo2	A	C	18: 63,162,132 (GRCm39)	I2233R	probably damaging	Het
Prag1	A	T	8: 36,613,787 (GRCm39)	E1113V	probably damaging	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Psmd1	T	A	1: 86,022,012 (GRCm39)	N611K	probably damaging	Het
Ptpn7	C	T	1: 135,065,096 (GRCm39)	T168I	probably damaging	Het
Pus1	A	T	5: 110,927,596 (GRCm39)	V53E	probably damaging	Het
Rgs22	A	G	15: 36,093,028 (GRCm39)	M415T	probably damaging	Het
Rnf17	C	T	14: 56,751,632 (GRCm39)	T1490M	probably benign	Het
Rnf20	C	A	4: 49,645,907 (GRCm39)	L332I	possibly damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spam1	A	T	6: 24,796,394 (GRCm39)	Q115L	probably damaging	Het
Syce1l	A	T	8: 114,381,395 (GRCm39)		probably null	Het
Synj1	T	C	16: 90,735,151 (GRCm39)		probably benign	Het
Tas2r126	A	T	6: 42,412,225 (GRCm39)	I253F	probably benign	Het
Tecpr2	G	A	12: 110,862,803 (GRCm39)	V72I	probably benign	Het
Tfap2a	G	T	13: 40,882,170 (GRCm39)	P45Q	probably damaging	Het
Trip12	C	A	1: 84,738,805 (GRCm39)	G714*	probably null	Het
Wdr31	A	G	4: 62,372,130 (GRCm39)	S330P	probably damaging	Het
Wdr64	T	C	1: 175,622,769 (GRCm39)		probably benign	Het
Yes1	T	A	5: 32,812,926 (GRCm39)	Y343*	probably null	Het

Other mutations in Cwf19l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00923:Cwf19l1	APN	19	44,119,849 (GRCm39)	critical splice donor site	probably null
IGL01691:Cwf19l1	APN	19	44,109,311 (GRCm39)	critical splice donor site	probably null
IGL02427:Cwf19l1	APN	19	44,121,462 (GRCm39)	nonsense	probably null
IGL03234:Cwf19l1	APN	19	44,115,809 (GRCm39)	missense	probably damaging	1.00
IGL03236:Cwf19l1	APN	19	44,115,887 (GRCm39)	missense	probably benign	0.00
IGL03275:Cwf19l1	APN	19	44,111,696 (GRCm39)	missense	probably benign	0.10
R0068:Cwf19l1	UTSW	19	44,119,938 (GRCm39)	missense	probably damaging	0.99
R0068:Cwf19l1	UTSW	19	44,119,938 (GRCm39)	missense	probably damaging	0.99
R1820:Cwf19l1	UTSW	19	44,115,826 (GRCm39)	missense	probably benign	0.00
R2317:Cwf19l1	UTSW	19	44,120,597 (GRCm39)	missense	possibly damaging	0.92
R2418:Cwf19l1	UTSW	19	44,119,911 (GRCm39)	missense	probably benign
R2438:Cwf19l1	UTSW	19	44,099,002 (GRCm39)	missense	probably benign	0.00
R3796:Cwf19l1	UTSW	19	44,103,006 (GRCm39)	missense	probably damaging	0.97
R3850:Cwf19l1	UTSW	19	44,119,937 (GRCm39)	missense	probably benign	0.24
R4518:Cwf19l1	UTSW	19	44,121,473 (GRCm39)	missense	probably damaging	1.00
R4855:Cwf19l1	UTSW	19	44,103,006 (GRCm39)	missense	probably damaging	0.97
R5402:Cwf19l1	UTSW	19	44,121,524 (GRCm39)	critical splice acceptor site	probably null
R5587:Cwf19l1	UTSW	19	44,109,316 (GRCm39)	missense	possibly damaging	0.49
R5785:Cwf19l1	UTSW	19	44,110,380 (GRCm39)	missense	probably damaging	0.98
R6354:Cwf19l1	UTSW	19	44,115,912 (GRCm39)	missense	probably benign	0.10
R6652:Cwf19l1	UTSW	19	44,103,138 (GRCm39)	missense	probably benign	0.11
R7365:Cwf19l1	UTSW	19	44,120,579 (GRCm39)	missense	probably damaging	1.00
R7548:Cwf19l1	UTSW	19	44,098,989 (GRCm39)	missense	probably benign	0.18
R7562:Cwf19l1	UTSW	19	44,117,680 (GRCm39)	missense	probably damaging	1.00
R9005:Cwf19l1	UTSW	19	44,111,653 (GRCm39)	missense	possibly damaging	0.90
R9068:Cwf19l1	UTSW	19	44,124,274 (GRCm39)	unclassified	probably benign
R9235:Cwf19l1	UTSW	19	44,113,275 (GRCm39)	missense	probably damaging	1.00
R9695:Cwf19l1	UTSW	19	44,101,425 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTACCCAGCAAAGTCCAGGTCCTC -3'
(R):5'- GGCAACATCTTGAGCATTTTCTACTGC -3'

Sequencing Primer
(F):5'- AGGTCCCCACAGTGATTTCTAAG -3'
(R):5'- CACCTCAGGCTCACTGTGTG -3'

Posted On

2013-05-23