Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02249:Cwc15'

286294

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cwc15

Ensembl Gene

ENSMUSG00000004096

Gene Name

CWC15 spliceosome-associated protein

Synonyms

0610040D20Rik, 2900052N06Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.397) question?

Stock #

IGL02249

Quality Score

Status

Chromosome

Chromosomal Location

14411913-14421873 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14414977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 110 (T110A)

Ref Sequence

ENSEMBL: ENSMUSP00000149476 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004200] [ENSMUST00000058796] [ENSMUST00000115647] [ENSMUST00000213913] [ENSMUST00000215143]

AlphaFold

Q9JHS9

Predicted Effect

probably benign
Transcript: ENSMUST00000004200
AA Change: T110A

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

SMART Domains

Protein: ENSMUSP00000004200
Gene: ENSMUSG00000004096
AA Change: T110A

Domain	Start	End	E-Value	Type
Pfam:Cwf_Cwc_15	1	229	1.5e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000058796

SMART Domains

Protein: ENSMUSP00000061632
Gene: ENSMUSG00000053914

Domain	Start	End	E-Value	Type
Pfam:JmjN	16	50	3.3e-15	PFAM
JmjC	143	309	2.3e-57	SMART
low complexity region	370	383	N/A	INTRINSIC
low complexity region	417	434	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115647

SMART Domains

Protein: ENSMUSP00000111311
Gene: ENSMUSG00000053914

Domain	Start	End	E-Value	Type
Pfam:JmjN	16	50	1.1e-16	PFAM
JmjC	143	309	2.3e-57	SMART
low complexity region	370	383	N/A	INTRINSIC
low complexity region	417	434	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213913
AA Change: T110A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000215143

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216619

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	T	A	1: 53,224,431 (GRCm39)	K23*	probably null	Het
Abca1	A	T	4: 53,068,739 (GRCm39)	L1333*	probably null	Het
Adcy6	C	A	15: 98,497,795 (GRCm39)	M452I	probably damaging	Het
Adsl	G	A	15: 80,844,676 (GRCm39)	R173H	probably benign	Het
Ank3	A	G	10: 69,718,200 (GRCm39)	T484A	probably damaging	Het
Apol10a	A	G	15: 77,372,709 (GRCm39)	D115G	probably damaging	Het
Bard1	A	G	1: 71,092,828 (GRCm39)	S529P	probably damaging	Het
C2	A	G	17: 35,083,484 (GRCm39)		probably benign	Het
Cftr	T	A	6: 18,277,870 (GRCm39)	I956N	possibly damaging	Het
Dsg4	A	T	18: 20,594,361 (GRCm39)	I497F	possibly damaging	Het
Gadd45b	A	G	10: 80,766,967 (GRCm39)	D69G	possibly damaging	Het
Glb1l3	A	T	9: 26,742,564 (GRCm39)	S307R	possibly damaging	Het
Greb1l	G	A	18: 10,532,961 (GRCm39)	G843R	probably damaging	Het
H2-M11	A	T	17: 36,858,829 (GRCm39)	Y123F	probably benign	Het
Hal	G	A	10: 93,333,400 (GRCm39)	A323T	probably damaging	Het
Il4ra	T	C	7: 125,166,396 (GRCm39)	F47L	probably benign	Het
Klra10	T	A	6: 130,256,367 (GRCm39)	N96Y	probably benign	Het
Maco1	T	C	4: 134,555,623 (GRCm39)	I283M	possibly damaging	Het
Mki67	T	A	7: 135,302,251 (GRCm39)	M928L	possibly damaging	Het
Myh15	T	A	16: 48,930,847 (GRCm39)	V607D	probably damaging	Het
Ndufaf2	A	G	13: 108,217,925 (GRCm39)	W74R	probably damaging	Het
Noc4l	C	A	5: 110,801,081 (GRCm39)		probably benign	Het
Or51b6b	T	A	7: 103,309,573 (GRCm39)	I295F	probably damaging	Het
Papss1	T	A	3: 131,307,772 (GRCm39)	W274R	probably damaging	Het
Pax3	C	T	1: 78,171,962 (GRCm39)	V83I	probably damaging	Het
Prmt5	C	T	14: 54,747,322 (GRCm39)	R485H	probably damaging	Het
Ptprq	A	G	10: 107,418,220 (GRCm39)	Y1719H	probably damaging	Het
Ranbp2	A	T	10: 58,315,900 (GRCm39)	I2207F	possibly damaging	Het
Rock2	T	A	12: 17,021,042 (GRCm39)		probably benign	Het
Sema3c	G	A	5: 17,867,961 (GRCm39)	R124H	probably damaging	Het
Serpina1e	G	A	12: 103,917,393 (GRCm39)	T92M	probably benign	Het
Sgip1	T	C	4: 102,768,667 (GRCm39)	L83P	probably benign	Het
Tm9sf2	C	T	14: 122,361,162 (GRCm39)	S68L	probably damaging	Het
Tmem178	A	G	17: 81,297,235 (GRCm39)	T206A	probably damaging	Het
Tmem207	A	T	16: 26,336,617 (GRCm39)	Y46N	possibly damaging	Het
Tyk2	A	G	9: 21,031,703 (GRCm39)	L429P	probably damaging	Het

Other mutations in Cwc15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02490:Cwc15	APN	9	14,413,320 (GRCm39)	missense	probably damaging	1.00
R1061:Cwc15	UTSW	9	14,419,211 (GRCm39)	missense	probably damaging	1.00
R1732:Cwc15	UTSW	9	14,421,543 (GRCm39)	missense	probably benign	0.00
R5115:Cwc15	UTSW	9	14,419,192 (GRCm39)	missense	probably benign	0.01
R5373:Cwc15	UTSW	9	14,416,234 (GRCm39)	missense	possibly damaging	0.93
R5374:Cwc15	UTSW	9	14,416,234 (GRCm39)	missense	possibly damaging	0.93
R6273:Cwc15	UTSW	9	14,421,537 (GRCm39)	missense	probably benign
R6537:Cwc15	UTSW	9	14,413,284 (GRCm39)	missense	probably damaging	1.00
R7297:Cwc15	UTSW	9	14,421,525 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16