Mutagenetix > Incidental Mutation

Incidental Mutation 'R6688:Cwf19l2'

527865

Institutional Source

Beutler Lab

Gene Symbol

Cwf19l2

Ensembl Gene

ENSMUSG00000025898

Gene Name

CWF19 like cell cycle control factor 2

Synonyms

3230401L03Rik

MMRRC Submission

044806-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R6688 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3403592-3479236 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3450015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 572 (V572A)

Ref Sequence

ENSEMBL: ENSMUSP00000027027 (fasta)

Gene Model

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

AlphaFold

Q8BG79

Predicted Effect

probably benign
Transcript: ENSMUST00000027027
AA Change: V572A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000027027
Gene: ENSMUSG00000025898
AA Change: V572A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212101

Meta Mutation Damage Score

0.0586

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn1	A	T	13: 45,721,147 (GRCm39)	H249Q	probably damaging	Het
Cd22	A	C	7: 30,572,389 (GRCm39)	S362A	possibly damaging	Het
Cep120	G	A	18: 53,857,608 (GRCm39)	P286S	probably benign	Het
Ces1g	G	A	8: 94,033,600 (GRCm39)	P441S	possibly damaging	Het
Ces2h	A	G	8: 105,744,472 (GRCm39)	I316V	probably benign	Het
Cntnap5c	T	A	17: 58,600,899 (GRCm39)	D747E	possibly damaging	Het
Cyb5rl	C	T	4: 106,931,102 (GRCm39)	A128V	probably damaging	Het
Dnttip1	T	C	2: 164,607,081 (GRCm39)	Y241H	probably damaging	Het
Gm2381	G	A	7: 42,470,010 (GRCm39)	A38V	probably benign	Het
Golga4	A	G	9: 118,343,278 (GRCm39)	T11A	possibly damaging	Het
Ip6k2	C	A	9: 108,683,210 (GRCm39)	T440K	probably benign	Het
Kif5c	A	G	2: 49,578,749 (GRCm39)	N126D	probably benign	Het
Mdn1	T	A	4: 32,774,041 (GRCm39)	F5551I	possibly damaging	Het
Myh11	A	G	16: 14,023,417 (GRCm39)	L1587P	probably damaging	Het
Nherf4	C	T	9: 44,159,527 (GRCm39)		probably null	Het
Nop53	A	G	7: 15,679,779 (GRCm39)	V67A	possibly damaging	Het
Or1o1	G	A	17: 37,716,796 (GRCm39)	R119H	probably benign	Het
Paxip1	T	C	5: 27,949,135 (GRCm39)	T1045A	probably benign	Het
Plg	A	T	17: 12,610,732 (GRCm39)	H215L	probably damaging	Het
Psmb5	C	A	14: 54,854,130 (GRCm39)	R116L	probably damaging	Het
Rapgef2	T	A	3: 78,976,435 (GRCm39)	Q1307L	probably benign	Het
Serpini2	T	C	3: 75,166,870 (GRCm39)	E129G	possibly damaging	Het
Stx1b	C	T	7: 127,407,068 (GRCm39)	R209Q	probably damaging	Het
Tcf20	A	G	15: 82,738,736 (GRCm39)	I905T	possibly damaging	Het
Tmem252	G	A	19: 24,651,463 (GRCm39)	A11T	probably benign	Het
Tpst2	A	G	5: 112,455,623 (GRCm39)	N54S	probably benign	Het
Usp31	T	C	7: 121,277,553 (GRCm39)	S269G	probably benign	Het
Wasf1	T	C	10: 40,802,616 (GRCm39)		probably null	Het
Zfp429	A	T	13: 67,544,249 (GRCm39)	V58D	probably damaging	Het
Zfp958	A	G	8: 4,678,940 (GRCm39)	T322A	possibly damaging	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
R1393:Cwf19l2	UTSW	9	3,456,818 (GRCm39)	missense	probably benign	0.01
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
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'- AGTCAGCTAGTGTGGTACTTTC -3'
(R):5'- ATACATCACTGTCAACTGATGAATCAG -3'

Sequencing Primer
(F):5'- TTCTTCTGGGAAGGAAGGCAG -3'
(R):5'- CAGTTTCTCAAAATGCAAAGGTTTG -3'

Posted On

2018-07-23