Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00227:Cwf19l2'

2295

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: 0.934) question?

Stock #

IGL00227

Quality Score

Status

Chromosome

Chromosomal Location

3403592-3479236 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 3409990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 40 (Q40K)

Ref Sequence

ENSEMBL: ENSMUSP00000027027 (fasta)

Gene Model

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

AlphaFold

Q8BG79

Predicted Effect

probably benign
Transcript: ENSMUST00000027027
AA Change: Q40K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000027027
Gene: ENSMUSG00000025898
AA Change: Q40K

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	C	A	17: 84,995,957 (GRCm39)		probably null	Het
Alms1	A	G	6: 85,654,946 (GRCm39)	E2695G	probably damaging	Het
B3galnt2	A	G	13: 14,162,016 (GRCm39)	N246D	probably benign	Het
Ces1h	A	T	8: 94,079,098 (GRCm39)	M495K	unknown	Het
Chga	A	G	12: 102,529,058 (GRCm39)	E345G	probably damaging	Het
Chrnb3	T	C	8: 27,875,129 (GRCm39)	F43L	probably benign	Het
Ctu1	C	A	7: 43,324,928 (GRCm39)	F122L	possibly damaging	Het
Dlg2	T	C	7: 91,614,853 (GRCm39)	I264T	probably damaging	Het
Dnah1	C	T	14: 31,008,853 (GRCm39)	V1974M	probably damaging	Het
Foxf2	C	A	13: 31,810,172 (GRCm39)	P37Q	unknown	Het
Gtf2e2	T	C	8: 34,266,473 (GRCm39)		probably benign	Het
Hectd3	C	A	4: 116,857,785 (GRCm39)		probably benign	Het
Hectd3	T	C	4: 116,857,786 (GRCm39)		probably benign	Het
Hectd3	T	C	4: 116,857,784 (GRCm39)		probably benign	Het
Ift122	A	T	6: 115,894,018 (GRCm39)	H901L	probably benign	Het
Itih1	C	T	14: 30,664,846 (GRCm39)		probably null	Het
Krt84	C	A	15: 101,436,208 (GRCm39)	M460I	probably benign	Het
Moxd1	C	T	10: 24,158,491 (GRCm39)	H382Y	probably damaging	Het
Npy6r	A	T	18: 44,409,511 (GRCm39)	T311S	probably damaging	Het
Or1p1	C	T	11: 74,179,952 (GRCm39)	T160I	probably damaging	Het
Or52n3	C	T	7: 104,530,724 (GRCm39)	T270I	probably benign	Het
Pbk	T	C	14: 66,051,340 (GRCm39)	I126T	probably damaging	Het
Pde1b	C	T	15: 103,435,107 (GRCm39)	S400F	probably damaging	Het
Plxna2	T	A	1: 194,326,965 (GRCm39)	C300S	probably damaging	Het
Pnpla6	C	T	8: 3,573,808 (GRCm39)	R419W	probably damaging	Het
Ppp4r3a	A	G	12: 101,016,053 (GRCm39)	L33P	probably damaging	Het
Ralb	T	A	1: 119,403,770 (GRCm39)	D119V	probably benign	Het
Relb	A	C	7: 19,356,849 (GRCm39)		probably null	Het
Rims1	T	A	1: 22,507,323 (GRCm39)	D609V	probably damaging	Het
Scnn1a	A	G	6: 125,315,342 (GRCm39)	T377A	probably benign	Het
Slc13a2	T	C	11: 78,291,374 (GRCm39)	T367A	probably damaging	Het
Sort1	T	C	3: 108,263,623 (GRCm39)	L807P	probably damaging	Het
Sptbn1	C	A	11: 30,060,818 (GRCm39)	E2051*	probably null	Het
St6galnac1	T	C	11: 116,658,532 (GRCm39)	I311V	probably damaging	Het

Other mutations in Cwf19l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2011-12-09