Mutagenetix > Incidental Mutation

Incidental Mutation 'R5587:Cwf19l1'

438858

Institutional Source

Beutler Lab

Gene Symbol

Cwf19l1

Ensembl Gene

ENSMUSG00000025200

Gene Name

CWF19-like 1, cell cycle control (S. pombe)

Synonyms

2610528C06Rik

MMRRC Submission

043141-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.787) question?

Stock #

R5587 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

44108644-44135876 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44120877 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 346 (T346I)

Ref Sequence

ENSEMBL: ENSMUSP00000026218 (fasta)

Gene Model

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

AlphaFold

Q8CI33

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026218
AA Change: T346I

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000026218
Gene: ENSMUSG00000025200
AA Change: T346I

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

0.3422

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

96% (78/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,065,409 (GRCm38)	R120G	probably benign	Het
Acad11	A	G	9: 104,063,767 (GRCm38)	T3A	probably benign	Het
Adamts18	G	A	8: 113,775,360 (GRCm38)	Q290*	probably null	Het
Ahnak	A	G	19: 9,009,476 (GRCm38)	D2708G	possibly damaging	Het
Asxl3	T	A	18: 22,525,247 (GRCm38)	C2105S	probably benign	Het
Atp8b1	A	T	18: 64,539,210 (GRCm38)	F1028I	probably damaging	Het
Axdnd1	C	G	1: 156,351,412 (GRCm38)	W615C	probably damaging	Het
Bcl3	A	T	7: 19,809,634 (GRCm38)	Y10*	probably null	Het
Bmp2	T	A	2: 133,554,646 (GRCm38)	V74E	possibly damaging	Het
Ccdc121	G	T	5: 31,486,084 (GRCm38)	G53W	probably benign	Het
Ccdc78	C	A	17: 25,786,677 (GRCm38)	P21Q	probably benign	Het
Cluap1	T	A	16: 3,915,484 (GRCm38)	V199E	probably damaging	Het
Cntnap3	T	C	13: 64,746,738 (GRCm38)	E1120G	probably damaging	Het
Col1a2	T	A	6: 4,540,531 (GRCm38)	W1330R	unknown	Het
Coq4	A	G	2: 29,795,514 (GRCm38)		probably null	Het
Cyct	T	C	2: 76,354,203 (GRCm38)	Y68C	probably damaging	Het
Dnah10	T	C	5: 124,793,913 (GRCm38)	L2368P	probably benign	Het
Dnah2	A	T	11: 69,437,242 (GRCm38)	F3346I	probably damaging	Het
Dpp3	A	T	19: 4,918,267 (GRCm38)	V259E	probably damaging	Het
Dpyd	A	C	3: 119,064,951 (GRCm38)	S605R	probably damaging	Het
Emc1	A	G	4: 139,362,148 (GRCm38)	E209G	probably damaging	Het
Esrra	A	G	19: 6,920,207 (GRCm38)	S61P	probably benign	Het
Garin2	C	A	12: 78,715,075 (GRCm38)	P171H	probably damaging	Het
Gbx2	T	A	1: 89,933,122 (GRCm38)		probably benign	Het
Hepacam	A	G	9: 37,384,684 (GRCm38)	H377R	probably damaging	Het
Igkv12-46	T	C	6: 69,764,550 (GRCm38)	Y107C	probably damaging	Het
Intu	A	G	3: 40,675,308 (GRCm38)	D356G	probably damaging	Het
Izumo4	A	T	10: 80,703,220 (GRCm38)	N113Y	probably damaging	Het
Krt86	G	A	15: 101,473,593 (GRCm38)	A15T	probably benign	Het
Lhx8	A	T	3: 154,311,679 (GRCm38)	S275R	probably damaging	Het
Lingo3	A	T	10: 80,835,530 (GRCm38)	S189T	probably damaging	Het
Llgl1	T	A	11: 60,710,342 (GRCm38)	M702K	probably benign	Het
Lpin1	T	C	12: 16,573,714 (GRCm38)	Y223C		Het
Lrit3	G	T	3: 129,788,898 (GRCm38)	A359E	probably benign	Het
Lrp2	T	C	2: 69,499,263 (GRCm38)	E1720G	probably benign	Het
Mcub	A	C	3: 129,916,970 (GRCm38)	V271G	probably benign	Het
Nktr	C	T	9: 121,748,489 (GRCm38)		probably benign	Het
Or10g9	A	T	9: 40,000,621 (GRCm38)	I202N	possibly damaging	Het
Or13p4	T	A	4: 118,689,870 (GRCm38)	D194V	probably damaging	Het
Or1j18	A	T	2: 36,734,621 (GRCm38)	Q100L	probably damaging	Het
Or4d5	A	T	9: 40,101,244 (GRCm38)	L82Q	probably damaging	Het
Or52z12	T	A	7: 103,584,531 (GRCm38)	Y170N	probably benign	Het
Or9i1	G	A	19: 13,862,576 (GRCm38)	R261H	probably damaging	Het
Pcdha4	T	C	18: 36,954,822 (GRCm38)	V686A	probably benign	Het
Pelo	A	G	13: 115,089,873 (GRCm38)	V16A	possibly damaging	Het
Plcd1	A	G	9: 119,073,832 (GRCm38)	S539P	probably benign	Het
Prss1	A	G	6: 41,463,265 (GRCm38)	I179V	possibly damaging	Het
Ptgs2	T	C	1: 150,105,555 (GRCm38)	Y530H	probably damaging	Het
Rai1	T	C	11: 60,189,859 (GRCm38)	V1583A	probably damaging	Het
Raph1	T	G	1: 60,498,473 (GRCm38)	D508A	probably damaging	Het
Rmnd5a	A	G	6: 71,394,619 (GRCm38)		probably benign	Het
Rsf1	T	C	7: 97,662,121 (GRCm38)	L686P	probably benign	Het
Samd9l	T	C	6: 3,373,291 (GRCm38)	I1323M	possibly damaging	Het
Scn1a	T	C	2: 66,273,081 (GRCm38)	N1934S	probably benign	Het
Sec23ip	C	T	7: 128,750,427 (GRCm38)	H176Y	probably benign	Het
Sh3glb2	A	G	2: 30,354,851 (GRCm38)		probably null	Het
Sis	A	G	3: 72,914,576 (GRCm38)	I1384T	possibly damaging	Het
Spata31d1a	A	C	13: 59,702,618 (GRCm38)	C565W	probably damaging	Het
Srbd1	T	A	17: 86,127,801 (GRCm38)	Q278L	probably damaging	Het
Sry	T	C	Y: 2,662,625 (GRCm38)	H345R	unknown	Het
Suox	A	T	10: 128,671,825 (GRCm38)	D111E	probably damaging	Het
Taar7a	A	T	10: 23,992,828 (GRCm38)	F218L	probably benign	Het
Tfcp2l1	C	A	1: 118,664,762 (GRCm38)	N288K	possibly damaging	Het
Tmem128	G	T	5: 38,260,421 (GRCm38)	R7L	possibly damaging	Het
Tmem266	A	G	9: 55,437,566 (GRCm38)	N494S	probably damaging	Het
Tmprss3	T	A	17: 31,193,992 (GRCm38)	H80L	probably benign	Het
Tnrc6c	C	T	11: 117,749,271 (GRCm38)	Q1211*	probably null	Het
Tns1	T	A	1: 73,920,596 (GRCm38)	D1671V	possibly damaging	Het
Trmt1l	T	A	1: 151,435,704 (GRCm38)		probably benign	Het
Tshz2	A	T	2: 169,884,342 (GRCm38)	D286V	probably damaging	Het
Ttyh2	A	G	11: 114,675,659 (GRCm38)	E39G	probably benign	Het
Vmn2r125	G	A	4: 156,350,138 (GRCm38)	C73Y	probably damaging	Het
Vmn2r5	T	C	3: 64,504,076 (GRCm38)	D357G	probably damaging	Het
Vmn2r61	T	C	7: 42,300,487 (GRCm38)	F777S	probably damaging	Het
Vmn2r9	T	C	5: 108,847,561 (GRCm38)	E407G	probably damaging	Het
Vwa3a	A	G	7: 120,780,235 (GRCm38)	N521S	probably damaging	Het
Zan	C	G	5: 137,391,762 (GRCm38)	S4816T	unknown	Het
Zc3h7b	T	C	15: 81,771,858 (GRCm38)	Y136H	possibly damaging	Het
Zfp101	T	C	17: 33,381,321 (GRCm38)	K487R	possibly damaging	Het

Other mutations in Cwf19l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00923:Cwf19l1	APN	19	44,131,410 (GRCm38)	critical splice donor site	probably null
IGL01691:Cwf19l1	APN	19	44,120,872 (GRCm38)	critical splice donor site	probably null
IGL02427:Cwf19l1	APN	19	44,133,023 (GRCm38)	nonsense	probably null
IGL03234:Cwf19l1	APN	19	44,127,370 (GRCm38)	missense	probably damaging	1.00
IGL03236:Cwf19l1	APN	19	44,127,448 (GRCm38)	missense	probably benign	0.00
IGL03275:Cwf19l1	APN	19	44,123,257 (GRCm38)	missense	probably benign	0.10
R0068:Cwf19l1	UTSW	19	44,131,499 (GRCm38)	missense	probably damaging	0.99
R0068:Cwf19l1	UTSW	19	44,131,499 (GRCm38)	missense	probably damaging	0.99
R0486:Cwf19l1	UTSW	19	44,114,690 (GRCm38)	missense	probably benign	0.35
R1820:Cwf19l1	UTSW	19	44,127,387 (GRCm38)	missense	probably benign	0.00
R2317:Cwf19l1	UTSW	19	44,132,158 (GRCm38)	missense	possibly damaging	0.92
R2418:Cwf19l1	UTSW	19	44,131,472 (GRCm38)	missense	probably benign
R2438:Cwf19l1	UTSW	19	44,110,563 (GRCm38)	missense	probably benign	0.00
R3796:Cwf19l1	UTSW	19	44,114,567 (GRCm38)	missense	probably damaging	0.97
R3850:Cwf19l1	UTSW	19	44,131,498 (GRCm38)	missense	probably benign	0.24
R4518:Cwf19l1	UTSW	19	44,133,034 (GRCm38)	missense	probably damaging	1.00
R4855:Cwf19l1	UTSW	19	44,114,567 (GRCm38)	missense	probably damaging	0.97
R5402:Cwf19l1	UTSW	19	44,133,085 (GRCm38)	critical splice acceptor site	probably null
R5785:Cwf19l1	UTSW	19	44,121,941 (GRCm38)	missense	probably damaging	0.98
R6354:Cwf19l1	UTSW	19	44,127,473 (GRCm38)	missense	probably benign	0.10
R6652:Cwf19l1	UTSW	19	44,114,699 (GRCm38)	missense	probably benign	0.11
R7365:Cwf19l1	UTSW	19	44,132,140 (GRCm38)	missense	probably damaging	1.00
R7548:Cwf19l1	UTSW	19	44,110,550 (GRCm38)	missense	probably benign	0.18
R7562:Cwf19l1	UTSW	19	44,129,241 (GRCm38)	missense	probably damaging	1.00
R9005:Cwf19l1	UTSW	19	44,123,214 (GRCm38)	missense	possibly damaging	0.90
R9068:Cwf19l1	UTSW	19	44,135,835 (GRCm38)	unclassified	probably benign
R9235:Cwf19l1	UTSW	19	44,124,836 (GRCm38)	missense	probably damaging	1.00
R9695:Cwf19l1	UTSW	19	44,112,986 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAACCGAGTGCCAGCTTTCC -3'
(R):5'- GCAAGCACCTTTACCTGCTG -3'

Sequencing Primer
(F):5'- CTTGCCTGCTCTGCCGG -3'
(R):5'- GCTGAGCCATCTCTCCAGC -3'

Posted On

2016-10-26