Mutagenetix > Incidental Mutation

Incidental Mutation 'R1393:Cwf19l2'

162697

Institutional Source

Beutler Lab

Gene Symbol

Cwf19l2

Ensembl Gene

ENSMUSG00000025898

Gene Name

CWF19 like cell cycle control factor 2

Synonyms

3230401L03Rik

MMRRC Submission

039455-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

R1393 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3403592-3479236 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3456818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 717 (V717A)

Ref Sequence

ENSEMBL: ENSMUSP00000027027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027027]

AlphaFold

Q8BG79

Predicted Effect

probably benign
Transcript: ENSMUST00000027027
AA Change: V717A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000027027
Gene: ENSMUSG00000025898
AA Change: V717A

Domain	Start	End	E-Value	Type
low complexity region	64	114	N/A	INTRINSIC
coiled coil region	165	196	N/A	INTRINSIC
low complexity region	403	418	N/A	INTRINSIC
coiled coil region	496	524	N/A	INTRINSIC
Pfam:CwfJ_C_1	655	779	1.8e-40	PFAM
Pfam:CwfJ_C_2	788	882	4.6e-34	PFAM

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	A	G	16: 20,379,180 (GRCm39)	N682S	probably benign	Het
Acta2	G	A	19: 34,219,192 (GRCm39)	R337C	probably damaging	Het
Anxa5	G	A	3: 36,507,658 (GRCm39)	T194I	probably damaging	Het
Atf1	A	G	15: 100,130,647 (GRCm39)	T6A	possibly damaging	Het
Atg4d	T	A	9: 21,182,129 (GRCm39)	Y317N	probably damaging	Het
Bcl6	A	G	16: 23,796,316 (GRCm39)	V37A	probably damaging	Het
Bsn	T	C	9: 107,987,716 (GRCm39)		probably benign	Het
Cd300ld2	G	A	11: 114,903,404 (GRCm39)		probably benign	Het
Cdh15	G	C	8: 123,584,234 (GRCm39)	E112Q	probably damaging	Het
Chad	A	T	11: 94,456,140 (GRCm39)	M73L	probably benign	Het
Copz1	A	G	15: 103,203,171 (GRCm39)	N95S	probably benign	Het
Dock3	C	T	9: 106,788,548 (GRCm39)	G140R	probably damaging	Het
Gm14226	A	T	2: 154,866,111 (GRCm39)	S23C	probably damaging	Het
Gria2	T	C	3: 80,614,405 (GRCm39)	E545G	probably damaging	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Or6c215	A	G	10: 129,637,801 (GRCm39)	F198L	probably benign	Het
Patj	G	A	4: 98,312,648 (GRCm39)	V329I	probably benign	Het
Ptcd3	T	A	6: 71,866,605 (GRCm39)	T404S	probably benign	Het
Rasa1	A	G	13: 85,371,641 (GRCm39)	C867R	probably damaging	Het
Rps24	A	G	14: 24,541,830 (GRCm39)	T6A	probably damaging	Het
Rsad2	T	C	12: 26,506,376 (GRCm39)	S15G	probably damaging	Het
Serpina12	T	C	12: 104,004,009 (GRCm39)	I208V	possibly damaging	Het
Spock1	A	T	13: 58,055,268 (GRCm39)	L45Q	probably damaging	Het
Stat3	A	T	11: 100,779,591 (GRCm39)		probably null	Het
Zfp810	T	C	9: 22,191,810 (GRCm39)	D90G	probably benign	Het

Other mutations in Cwf19l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Cwf19l2	APN	9	3,409,990 (GRCm39)	missense	probably benign	0.01
IGL00573:Cwf19l2	APN	9	3,450,161 (GRCm39)	splice site	probably benign
IGL00757:Cwf19l2	APN	9	3,460,054 (GRCm39)	missense	probably damaging	1.00
IGL00803:Cwf19l2	APN	9	3,430,810 (GRCm39)	missense	probably benign	0.41
IGL01916:Cwf19l2	APN	9	3,477,869 (GRCm39)	missense	possibly damaging	0.82
IGL02315:Cwf19l2	APN	9	3,410,030 (GRCm39)	missense	probably damaging	1.00
IGL02419:Cwf19l2	APN	9	3,418,777 (GRCm39)	critical splice donor site	probably null
IGL02427:Cwf19l2	APN	9	3,456,817 (GRCm39)	missense	probably benign	0.00
IGL03026:Cwf19l2	APN	9	3,428,777 (GRCm39)	missense	probably benign	0.28
IGL03028:Cwf19l2	APN	9	3,430,622 (GRCm39)	missense	probably benign	0.26
IGL03199:Cwf19l2	APN	9	3,477,830 (GRCm39)	missense	probably damaging	1.00
R0015:Cwf19l2	UTSW	9	3,454,666 (GRCm39)	missense	probably benign	0.00
R0015:Cwf19l2	UTSW	9	3,454,666 (GRCm39)	missense	probably benign	0.00
R0532:Cwf19l2	UTSW	9	3,431,057 (GRCm39)	missense	probably benign	0.38
R0724:Cwf19l2	UTSW	9	3,421,377 (GRCm39)	critical splice donor site	probably null
R0924:Cwf19l2	UTSW	9	3,441,047 (GRCm39)	splice site	probably benign
R0947:Cwf19l2	UTSW	9	3,421,286 (GRCm39)	missense	probably benign	0.16
R1210:Cwf19l2	UTSW	9	3,430,810 (GRCm39)	missense	probably benign	0.00
R1541:Cwf19l2	UTSW	9	3,456,760 (GRCm39)	missense	probably damaging	1.00
R1594:Cwf19l2	UTSW	9	3,430,973 (GRCm39)	missense	probably benign
R1870:Cwf19l2	UTSW	9	3,458,802 (GRCm39)	missense	possibly damaging	0.56
R1950:Cwf19l2	UTSW	9	3,418,674 (GRCm39)	missense	probably benign
R1996:Cwf19l2	UTSW	9	3,417,947 (GRCm39)	missense	probably benign	0.01
R2005:Cwf19l2	UTSW	9	3,430,720 (GRCm39)	missense	possibly damaging	0.92
R2246:Cwf19l2	UTSW	9	3,430,661 (GRCm39)	missense	probably benign	0.16
R2420:Cwf19l2	UTSW	9	3,411,341 (GRCm39)	missense	possibly damaging	0.80
R3051:Cwf19l2	UTSW	9	3,410,006 (GRCm39)	missense	probably benign	0.05
R3738:Cwf19l2	UTSW	9	3,456,803 (GRCm39)	missense	probably benign	0.01
R3915:Cwf19l2	UTSW	9	3,456,776 (GRCm39)	missense	probably damaging	1.00
R4034:Cwf19l2	UTSW	9	3,456,803 (GRCm39)	missense	probably benign	0.01
R4035:Cwf19l2	UTSW	9	3,456,803 (GRCm39)	missense	probably benign	0.01
R4323:Cwf19l2	UTSW	9	3,430,452 (GRCm39)	missense	probably damaging	0.99
R4328:Cwf19l2	UTSW	9	3,458,878 (GRCm39)	missense	probably damaging	1.00
R4329:Cwf19l2	UTSW	9	3,458,878 (GRCm39)	missense	probably damaging	1.00
R4692:Cwf19l2	UTSW	9	3,428,709 (GRCm39)	missense	probably damaging	1.00
R4775:Cwf19l2	UTSW	9	3,430,973 (GRCm39)	missense	probably benign
R4779:Cwf19l2	UTSW	9	3,410,035 (GRCm39)	missense	possibly damaging	0.95
R4822:Cwf19l2	UTSW	9	3,458,839 (GRCm39)	missense	probably damaging	1.00
R4833:Cwf19l2	UTSW	9	3,430,783 (GRCm39)	missense	probably benign	0.28
R5110:Cwf19l2	UTSW	9	3,450,012 (GRCm39)	critical splice acceptor site	probably null
R5120:Cwf19l2	UTSW	9	3,418,761 (GRCm39)	nonsense	probably null
R5164:Cwf19l2	UTSW	9	3,475,511 (GRCm39)	missense	probably damaging	1.00
R5440:Cwf19l2	UTSW	9	3,475,549 (GRCm39)	missense	probably damaging	1.00
R5567:Cwf19l2	UTSW	9	3,456,831 (GRCm39)	missense	probably damaging	1.00
R5594:Cwf19l2	UTSW	9	3,418,773 (GRCm39)	missense	probably benign	0.42
R5960:Cwf19l2	UTSW	9	3,411,404 (GRCm39)	missense	probably benign	0.43
R6222:Cwf19l2	UTSW	9	3,454,569 (GRCm39)	nonsense	probably null
R6259:Cwf19l2	UTSW	9	3,458,879 (GRCm39)	missense	probably damaging	1.00
R6688:Cwf19l2	UTSW	9	3,450,015 (GRCm39)	missense	probably benign	0.00
R6983:Cwf19l2	UTSW	9	3,477,817 (GRCm39)	missense	probably damaging	1.00
R7063:Cwf19l2	UTSW	9	3,430,532 (GRCm39)	missense	probably benign	0.03
R7506:Cwf19l2	UTSW	9	3,456,775 (GRCm39)	missense	probably damaging	1.00
R7733:Cwf19l2	UTSW	9	3,450,066 (GRCm39)	missense	probably benign	0.19
R7846:Cwf19l2	UTSW	9	3,477,889 (GRCm39)	missense	probably damaging	1.00
R7900:Cwf19l2	UTSW	9	3,460,107 (GRCm39)	missense	probably damaging	1.00
R8510:Cwf19l2	UTSW	9	3,454,732 (GRCm39)	missense	possibly damaging	0.89
R8709:Cwf19l2	UTSW	9	3,430,723 (GRCm39)	missense	probably benign	0.26
R8900:Cwf19l2	UTSW	9	3,447,245 (GRCm39)	missense	probably benign	0.01
R9031:Cwf19l2	UTSW	9	3,417,942 (GRCm39)	missense	probably benign	0.00
R9373:Cwf19l2	UTSW	9	3,454,718 (GRCm39)	missense	probably damaging	0.99
R9701:Cwf19l2	UTSW	9	3,430,454 (GRCm39)	missense	probably damaging	1.00
T0722:Cwf19l2	UTSW	9	3,456,755 (GRCm39)	missense	probably benign	0.00
X0003:Cwf19l2	UTSW	9	3,456,755 (GRCm39)	missense	probably benign	0.00
X0020:Cwf19l2	UTSW	9	3,418,662 (GRCm39)	missense	probably damaging	1.00
Z1177:Cwf19l2	UTSW	9	3,428,782 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGGTCTTACCATCCAGACTGCCC -3'
(R):5'- TCAAAGCCAGAGCGCACTATGAAG -3'

Sequencing Primer
(F):5'- TCCAGACTGCCCTAGTAAGTCC -3'
(R):5'- AAACGGTAACTGCTGCCTG -3'

Posted On

2014-03-17