Mutagenetix > Incidental Mutation

Incidental Mutation 'R4518:Cwf19l1'

334095

Institutional Source

Beutler Lab

Gene Symbol

Cwf19l1

Ensembl Gene

ENSMUSG00000025200

Gene Name

CWF19 like cell cycle control factor 1

Synonyms

2610528C06Rik

MMRRC Submission

041762-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.822) question?

Stock #

R4518 (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 44121473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 25 (V25A)

Ref Sequence

ENSEMBL: ENSMUSP00000026218 (fasta)

Gene Model

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

AlphaFold

Q8CI33

Predicted Effect

probably damaging
Transcript: ENSMUST00000026218
AA Change: V25A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026218
Gene: ENSMUSG00000025200
AA Change: V25A

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

Meta Mutation Damage Score

0.8353

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

98% (60/61)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082J24Rik	T	A	5: 30,311,006 (GRCm39)		probably null	Het
Abr	A	G	11: 76,363,344 (GRCm39)	S167P	possibly damaging	Het
Adamtsl2	T	C	2: 26,985,559 (GRCm39)	L481P	probably benign	Het
Atp8b3	C	T	10: 80,359,681 (GRCm39)	M984I	probably benign	Het
Brip1	G	A	11: 85,968,704 (GRCm39)	A827V	possibly damaging	Het
Carns1	T	G	19: 4,220,069 (GRCm39)	T389P	probably benign	Het
Ccdc88a	T	C	11: 29,432,651 (GRCm39)	I1219T	probably benign	Het
Cckar	T	C	5: 53,857,264 (GRCm39)	N311S	probably damaging	Het
Cenpc1	A	G	5: 86,195,446 (GRCm39)	S108P	possibly damaging	Het
Chpf	G	T	1: 75,451,689 (GRCm39)	S588R	probably damaging	Het
Clca3a2	T	A	3: 144,514,466 (GRCm39)	T414S	probably damaging	Het
Cntrl	A	G	2: 35,038,986 (GRCm39)	E1092G	probably damaging	Het
Crb2	C	A	2: 37,680,401 (GRCm39)	T443K	probably damaging	Het
Crppa	G	A	12: 36,523,179 (GRCm39)	V203I	possibly damaging	Het
Cyb561d1	T	C	3: 108,106,887 (GRCm39)	I111V	possibly damaging	Het
Dbn1	A	T	13: 55,624,042 (GRCm39)	I350N	possibly damaging	Het
Dnajb4	T	C	3: 151,890,813 (GRCm39)	I329V	probably benign	Het
Dnmt1	G	T	9: 20,823,274 (GRCm39)	D1055E	probably benign	Het
Fam168a	C	T	7: 100,483,247 (GRCm39)	A176V	probably damaging	Het
Farp2	A	G	1: 93,548,363 (GRCm39)	E1016G	probably benign	Het
Fibcd1	A	T	2: 31,707,207 (GRCm39)	V350E	probably damaging	Het
Galnt3	C	A	2: 65,923,954 (GRCm39)	R438L	probably damaging	Het
Golga4	T	A	9: 118,388,076 (GRCm39)	S1733T	probably benign	Het
Golgb1	G	A	16: 36,749,625 (GRCm39)	E3076K	probably damaging	Het
Grm7	A	G	6: 110,891,507 (GRCm39)		probably null	Het
Hcn2	T	C	10: 79,560,536 (GRCm39)	V289A	probably benign	Het
Hipk1	G	T	3: 103,657,688 (GRCm39)	H799N	probably damaging	Het
Klf14	A	G	6: 30,934,867 (GRCm39)	S256P	possibly damaging	Het
Muc6	T	A	7: 141,230,489 (GRCm39)	T1214S	probably benign	Het
Nlrp2	T	A	7: 5,328,055 (GRCm39)	D666V	possibly damaging	Het
Ntng1	A	G	3: 109,842,329 (GRCm39)	I148T	probably damaging	Het
Or4k35	T	C	2: 111,100,263 (GRCm39)	M150V	probably benign	Het
Or7d9	A	G	9: 20,197,546 (GRCm39)	I184V	probably benign	Het
Or7g27	T	A	9: 19,250,556 (GRCm39)	S267T	possibly damaging	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Pacs2	A	G	12: 113,024,289 (GRCm39)	D360G	probably benign	Het
Parp8	C	A	13: 117,032,209 (GRCm39)	L321F	possibly damaging	Het
Pdss2	T	A	10: 43,248,146 (GRCm39)	S217T	probably damaging	Het
Plekhn1	T	C	4: 156,309,988 (GRCm39)	S109G	probably damaging	Het
Prlr	C	A	15: 10,329,085 (GRCm39)	T520K	possibly damaging	Het
Prokr2	T	A	2: 132,216,012 (GRCm39)		probably null	Het
Rab3gap2	G	A	1: 184,999,265 (GRCm39)	V991I	probably benign	Het
Reln	T	C	5: 22,106,741 (GRCm39)	I3210V	probably benign	Het
Rims2	T	C	15: 39,300,922 (GRCm39)	Y218H	probably damaging	Het
Slc41a1	T	C	1: 131,766,863 (GRCm39)	V127A	probably damaging	Het
St8sia6	T	A	2: 13,797,562 (GRCm39)		probably null	Het
Tlr6	A	G	5: 65,112,247 (GRCm39)	F220S	possibly damaging	Het
Trmt1l	C	T	1: 151,324,094 (GRCm39)	Q314*	probably null	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Vnn3	G	A	10: 23,743,124 (GRCm39)	V445M	possibly damaging	Het
Ypel1	A	T	16: 16,913,905 (GRCm39)	F173I	possibly damaging	Het
Zfhx4	T	C	3: 5,477,578 (GRCm39)	C3398R	probably damaging	Het
Zfyve16	T	C	13: 92,657,820 (GRCm39)	E697G	possibly damaging	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
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
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'- TGAGATGAACAGTATAGACCGCC -3'
(R):5'- GCCTGGTAGCTCAGAGTAGTTG -3'

Sequencing Primer
(F):5'- TCCCATCAATCCACAGCTACTTAGTG -3'
(R):5'- GTAGCTCAGAGTAGTTGATATTGACC -3'

Posted On

2015-08-18