Mutagenetix > Incidental Mutation

Incidental Mutation 'R3915:Cwf19l2'

309598

Institutional Source

Beutler Lab

Gene Symbol

Cwf19l2

Ensembl Gene

ENSMUSG00000025898

Gene Name

CWF19 like cell cycle control factor 2

Synonyms

3230401L03Rik

MMRRC Submission

040913-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

R3915 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3403592-3479236 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3456776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 703 (H703R)

Ref Sequence

ENSEMBL: ENSMUSP00000027027 (fasta)

Gene Model

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

AlphaFold

Q8BG79

Predicted Effect

probably damaging
Transcript: ENSMUST00000027027
AA Change: H703R

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

SMART Domains

Protein: ENSMUSP00000027027
Gene: ENSMUSG00000025898
AA Change: H703R

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

Meta Mutation Damage Score

0.9347

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	G	A	5: 3,627,248 (GRCm39)	V75I	possibly damaging	Het
AA986860	A	G	1: 130,670,344 (GRCm39)	K189E	probably benign	Het
Abcf1	C	T	17: 36,270,402 (GRCm39)	R596H	possibly damaging	Het
Abtb3	C	A	10: 85,468,134 (GRCm39)	H810N	probably damaging	Het
Axl	T	C	7: 25,460,169 (GRCm39)		probably benign	Het
Birc6	A	G	17: 74,886,603 (GRCm39)	K644E	probably benign	Het
Btnl7-ps	T	A	17: 34,760,489 (GRCm39)		noncoding transcript	Het
Car8	A	T	4: 8,184,576 (GRCm39)		probably benign	Het
Ccdc62	C	T	5: 124,092,778 (GRCm39)	R588C	probably damaging	Het
Clasp2	T	G	9: 113,737,805 (GRCm39)	S374A	probably damaging	Het
Ctnnb1	A	G	9: 120,784,717 (GRCm39)	H503R	probably benign	Het
Efcab7	A	T	4: 99,735,375 (GRCm39)	Q133L	probably damaging	Het
Ehmt2	T	C	17: 35,122,443 (GRCm39)	S280P	probably damaging	Het
Eif4a3l1	A	T	6: 136,306,420 (GRCm39)	T294S	probably benign	Het
Eomes	A	G	9: 118,310,341 (GRCm39)	M351V	probably benign	Het
Ets2	G	A	16: 95,520,037 (GRCm39)	R421H	probably damaging	Het
Fam222b	C	G	11: 78,045,756 (GRCm39)	P439R	probably benign	Het
Gbp11	T	A	5: 105,478,978 (GRCm39)	K153N	probably damaging	Het
Golim4	T	C	3: 75,810,634 (GRCm39)	T174A	probably damaging	Het
Grid1	A	G	14: 35,242,684 (GRCm39)	Y679C	probably damaging	Het
Gvin-ps5	A	G	7: 105,929,445 (GRCm39)	S151P	probably benign	Het
Ikzf3	T	C	11: 98,381,412 (GRCm39)	D56G	probably damaging	Het
Kcnj16	A	G	11: 110,916,382 (GRCm39)	D348G	probably benign	Het
Kidins220	T	C	12: 25,103,957 (GRCm39)	L1319P	possibly damaging	Het
Lrp1b	T	A	2: 41,339,248 (GRCm39)	D751V	probably damaging	Het
Macc1	T	C	12: 119,410,551 (GRCm39)	C440R	probably benign	Het
Mbd2	T	C	18: 70,755,680 (GRCm39)	V382A	probably benign	Het
Or13a17	T	A	7: 140,270,888 (GRCm39)	D23E	probably benign	Het
Or51a25	C	T	7: 102,373,409 (GRCm39)	R96H	possibly damaging	Het
Or6c68	G	A	10: 129,158,178 (GRCm39)	A229T	probably benign	Het
Pgs1	T	G	11: 117,910,472 (GRCm39)	S528A	probably benign	Het
Pitpnm3	T	C	11: 72,003,110 (GRCm39)	T67A	probably damaging	Het
Pnliprp2	T	G	19: 58,748,794 (GRCm39)	V33G	probably damaging	Het
Ptn	T	C	6: 36,720,282 (GRCm39)	N90S	probably damaging	Het
Ptprt	A	T	2: 161,397,475 (GRCm39)		probably benign	Het
Ranbp17	G	A	11: 33,429,189 (GRCm39)	A352V	probably benign	Het
Rasgrp1	G	A	2: 117,119,122 (GRCm39)	S505F	probably damaging	Het
Sesn1	G	A	10: 41,770,886 (GRCm39)	R139H	probably benign	Het
Slc17a7	T	A	7: 44,818,144 (GRCm39)	L23Q	probably damaging	Het
Slc30a10	G	T	1: 185,187,333 (GRCm39)	E25*	probably null	Het
Smco1	A	G	16: 32,092,583 (GRCm39)	I85V	probably benign	Het
Vmn1r76	A	T	7: 11,664,496 (GRCm39)	S239R	probably benign	Het
Zc3h7a	A	T	16: 10,974,074 (GRCm39)	V237D	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
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'- GACGTCTTAGTCTGTAATATCTCTCTG -3'
(R):5'- AAACGGTAACTGCTGCCTGG -3'

Sequencing Primer
(F):5'- ATCCAGACTGCCCTAGTA -3'
(R):5'- ACGTTGTCAGTTCACTTAGTTAAC -3'

Posted On

2015-04-17