Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02315:Cwf19l2'

287996

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cwf19l2

Ensembl Gene

ENSMUSG00000025898

Gene Name

CWF19 like cell cycle control factor 2

Synonyms

3230401L03Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

IGL02315

Quality Score

Status

Chromosome

Chromosomal Location

3403592-3479236 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3410030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 53 (T53I)

Ref Sequence

ENSEMBL: ENSMUSP00000027027 (fasta)

Gene Model

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

AlphaFold

Q8BG79

Predicted Effect

probably damaging
Transcript: ENSMUST00000027027
AA Change: T53I

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

SMART Domains

Protein: ENSMUSP00000027027
Gene: ENSMUSG00000025898
AA Change: T53I

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: ENSMUST00000212128

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212644

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	T	A	2: 35,266,185 (GRCm39)	I162F	probably damaging	Het
Akap8	T	C	17: 32,524,475 (GRCm39)	D607G	probably benign	Het
Ap2b1	G	A	11: 83,227,625 (GRCm39)	V327I	probably damaging	Het
Bmpr1b	A	G	3: 141,563,290 (GRCm39)	V218A	probably damaging	Het
Cfap157	T	A	2: 32,668,177 (GRCm39)	D421V	probably benign	Het
Ctsm	A	G	13: 61,687,462 (GRCm39)	V100A	probably benign	Het
Dst	T	C	1: 34,237,746 (GRCm39)	C3663R	probably damaging	Het
Fbxo10	T	A	4: 45,062,469 (GRCm39)	H19L	probably benign	Het
Ghitm	A	T	14: 36,853,521 (GRCm39)	N106K	probably benign	Het
Hivep2	T	C	10: 14,006,983 (GRCm39)	F1194L	probably benign	Het
Hpse2	A	G	19: 42,955,386 (GRCm39)		probably benign	Het
Ighv1-67	C	T	12: 115,567,687 (GRCm39)	G56D	probably benign	Het
Ikzf4	A	G	10: 128,470,014 (GRCm39)	F502S	probably damaging	Het
Lrrc24	A	T	15: 76,602,506 (GRCm39)	F126L	probably damaging	Het
Mapt	G	A	11: 104,218,904 (GRCm39)	R355Q	probably damaging	Het
Mug1	T	A	6: 121,817,126 (GRCm39)	V65E	probably benign	Het
Myh6	T	C	14: 55,191,291 (GRCm39)	E850G	probably damaging	Het
Myh9	C	A	15: 77,654,173 (GRCm39)	V1211L	probably benign	Het
Naip2	T	A	13: 100,297,744 (GRCm39)	D764V	probably damaging	Het
Or8d2b	G	A	9: 38,789,353 (GRCm39)	V294I	probably damaging	Het
Parp6	A	G	9: 59,549,021 (GRCm39)		probably benign	Het
Ppp4r4	C	T	12: 103,566,620 (GRCm39)		probably benign	Het
Pramel11	T	C	4: 143,624,498 (GRCm39)		probably benign	Het
Pxylp1	A	G	9: 96,721,196 (GRCm39)	L56P	probably damaging	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Skida1	T	C	2: 18,050,816 (GRCm39)		probably benign	Het
Slc35d2	A	G	13: 64,254,849 (GRCm39)	S210P	possibly damaging	Het
Slit2	C	T	5: 48,145,213 (GRCm39)	T71M	probably damaging	Het
Spem2	A	T	11: 69,708,191 (GRCm39)	L258Q	probably damaging	Het
Stxbp2	C	T	8: 3,685,607 (GRCm39)		probably benign	Het
Vit	G	A	17: 78,930,087 (GRCm39)	V351I	possibly damaging	Het
Zwilch	A	G	9: 64,057,549 (GRCm39)	S285P	probably damaging	Het
Zzef1	A	T	11: 72,766,083 (GRCm39)	R1537*	probably null	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
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
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

Posted On

2015-04-16