Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02427:Cwf19l1'

292954

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cwf19l1

Ensembl Gene

ENSMUSG00000025200

Gene Name

CWF19 like cell cycle control factor 1

Synonyms

2610528C06Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.787) question?

Stock #

IGL02427

Quality Score

Status

Chromosome

Chromosomal Location

44097076-44124315 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 44121462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 29 (Q29*)

Ref Sequence

ENSEMBL: ENSMUSP00000026218 (fasta)

Gene Model

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

AlphaFold

Q8CI33

Predicted Effect

probably null
Transcript: ENSMUST00000026218
AA Change: Q29*

SMART Domains

Protein: ENSMUSP00000026218
Gene: ENSMUSG00000025200
AA Change: Q29*

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

Coding Region Coverage

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	C	T	5: 99,381,829 (GRCm39)	G311D	probably damaging	Het
Ablim1	A	T	19: 57,068,312 (GRCm39)		probably benign	Het
Adgrg2	T	C	X: 159,274,400 (GRCm39)	F863S	probably damaging	Het
B3galt2	A	T	1: 143,522,254 (GRCm39)	H130L	probably benign	Het
Bbs2	G	A	8: 94,807,746 (GRCm39)	P378S	possibly damaging	Het
Ccdc154	A	T	17: 25,390,731 (GRCm39)		probably null	Het
Ccdc88c	C	T	12: 100,887,851 (GRCm39)	C1543Y	probably damaging	Het
Cdcp3	T	A	7: 130,846,517 (GRCm39)	V647E	probably damaging	Het
Cfap77	A	T	2: 28,845,592 (GRCm39)	C258*	probably null	Het
Cpsf4l	T	G	11: 113,600,324 (GRCm39)		probably benign	Het
Csrnp3	G	A	2: 65,708,380 (GRCm39)		probably benign	Het
Cul9	G	A	17: 46,813,558 (GRCm39)	T2305I	possibly damaging	Het
Cwf19l2	G	T	9: 3,456,817 (GRCm39)	V717L	probably benign	Het
Cyp1a1	A	G	9: 57,607,858 (GRCm39)	Y162C	probably damaging	Het
Dlg5	T	C	14: 24,216,275 (GRCm39)	D589G	probably damaging	Het
Dmbt1	G	T	7: 130,689,815 (GRCm39)		probably null	Het
Dtna	T	C	18: 23,784,595 (GRCm39)	Y705H	possibly damaging	Het
Fancd2	T	A	6: 113,526,313 (GRCm39)		probably null	Het
Frem2	T	A	3: 53,443,184 (GRCm39)	N2527Y	probably damaging	Het
Gm7694	T	C	1: 170,130,113 (GRCm39)	D95G	probably benign	Het
Haus5	T	C	7: 30,361,196 (GRCm39)	T115A	probably benign	Het
Kdm3a	A	T	6: 71,569,184 (GRCm39)		probably benign	Het
Klra6	T	C	6: 129,993,680 (GRCm39)	D197G	possibly damaging	Het
Lap3	T	C	5: 45,668,475 (GRCm39)	V429A	probably damaging	Het
Mroh2b	G	T	15: 4,981,042 (GRCm39)		probably benign	Het
Myh9	T	A	15: 77,660,004 (GRCm39)	Q88L	probably damaging	Het
Myo5a	T	C	9: 75,083,900 (GRCm39)		probably benign	Het
Negr1	C	T	3: 156,267,827 (GRCm39)		probably benign	Het
Niban1	A	T	1: 151,593,025 (GRCm39)	D570V	probably damaging	Het
Nlrp9b	T	G	7: 19,776,426 (GRCm39)	C337W	probably damaging	Het
Obscn	A	T	11: 58,957,988 (GRCm39)	C3780S	probably damaging	Het
Or1e19	A	T	11: 73,316,487 (GRCm39)	F107L	probably damaging	Het
Piwil2	T	A	14: 70,635,583 (GRCm39)		probably benign	Het
Ppp6r3	T	C	19: 3,516,580 (GRCm39)	S213G	probably null	Het
Pxdn	T	A	12: 30,034,531 (GRCm39)	C39S	probably damaging	Het
Raf1	T	C	6: 115,608,288 (GRCm39)	N241S	probably benign	Het
Rapgef3	A	T	15: 97,645,017 (GRCm39)		probably null	Het
Rhox2h	C	T	X: 36,854,526 (GRCm39)	G72D	probably benign	Het
Sbf1	T	C	15: 89,190,188 (GRCm39)		probably benign	Het
Sema5a	T	C	15: 32,673,690 (GRCm39)		probably benign	Het
Setbp1	T	C	18: 78,900,688 (GRCm39)	D993G	probably damaging	Het
Slc5a4b	A	T	10: 75,894,713 (GRCm39)	C598S	possibly damaging	Het
Sorl1	T	C	9: 41,952,986 (GRCm39)	D685G	probably damaging	Het
Sulf2	C	T	2: 165,931,218 (GRCm39)	R263H	probably damaging	Het
Tbx22	C	A	X: 106,724,777 (GRCm39)	P17T	probably damaging	Het
Tspoap1	A	T	11: 87,653,341 (GRCm39)	T136S	probably benign	Het
Tyw5	T	C	1: 57,427,884 (GRCm39)	E240G	possibly damaging	Het
Umodl1	C	T	17: 31,187,415 (GRCm39)		probably benign	Het
Vmn1r60	T	C	7: 5,547,780 (GRCm39)	T107A	probably damaging	Het
Zbbx	T	C	3: 75,046,905 (GRCm39)	T121A	probably benign	Het
Zbtb11	A	G	16: 55,802,713 (GRCm39)	D241G	possibly damaging	Het
Zfp445	T	C	9: 122,681,295 (GRCm39)	H882R	probably benign	Het
Zscan30	T	C	18: 24,104,533 (GRCm39)		noncoding transcript	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
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
R0486:Cwf19l1	UTSW	19	44,103,129 (GRCm39)	missense	probably benign	0.35
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

Posted On

2015-04-16