Mutagenetix > Incidental Mutation

Incidental Mutation 'R4081:Cwc25'

316896

Institutional Source

Beutler Lab

Gene Symbol

Cwc25

Ensembl Gene

ENSMUSG00000018541

Gene Name

CWC25 spliceosome-associated protein

Synonyms

1300013D05Rik, R75228, Ccdc49

MMRRC Submission

040977-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.851) question?

Stock #

R4081 (G1)

Quality Score

130

Status

Validated

Chromosome

Chromosomal Location

97636307-97657382 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 97644744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 205 (Q205K)

Ref Sequence

ENSEMBL: ENSMUSP00000018685 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018685] [ENSMUST00000107579]

AlphaFold

Q9DBF7

Predicted Effect

probably benign
Transcript: ENSMUST00000018685
AA Change: Q205K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000018685
Gene: ENSMUSG00000018541
AA Change: Q205K

Domain	Start	End	E-Value	Type
Cir_N	11	47	8.52e-14	SMART
Pfam:CWC25	66	157	8.2e-24	PFAM
coiled coil region	159	187	N/A	INTRINSIC
low complexity region	251	269	N/A	INTRINSIC
low complexity region	274	293	N/A	INTRINSIC
coiled coil region	329	365	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107579

SMART Domains

Protein: ENSMUSP00000103205
Gene: ENSMUSG00000018541

Domain	Start	End	E-Value	Type
Cir_N	11	47	8.52e-14	SMART
Pfam:CWC25	64	147	3.3e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124356

Predicted Effect

probably benign
Transcript: ENSMUST00000152395

SMART Domains

Protein: ENSMUSP00000122738
Gene: ENSMUSG00000018541

Domain	Start	End	E-Value	Type
low complexity region	4	22	N/A	INTRINSIC
low complexity region	27	46	N/A	INTRINSIC
coiled coil region	81	117	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

98% (58/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a factor that is part of the multi-protein C complex involved in pre-mRNA splicing. Alternatively spliced transcripts have been described for this gene. [provided by RefSeq, Nov 2012]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,109,497 (GRCm39)	D324E	possibly damaging	Het
Adad1	A	G	3: 37,118,512 (GRCm39)		probably null	Het
Aim2	T	C	1: 173,287,417 (GRCm39)		probably null	Het
Arhgef1	G	T	7: 24,625,271 (GRCm39)	D850Y	probably damaging	Het
Ccnf	T	C	17: 24,442,872 (GRCm39)	*778W	probably null	Het
Cd53	T	C	3: 106,669,461 (GRCm39)	H179R	probably benign	Het
Cit	G	T	5: 116,086,109 (GRCm39)	R891L	probably damaging	Het
Clec4b1	T	C	6: 123,046,733 (GRCm39)		probably null	Het
Cntrl	C	A	2: 35,051,938 (GRCm39)		probably benign	Het
Cntrl	A	G	2: 35,065,137 (GRCm39)	D2148G	probably damaging	Het
Cpa5	T	C	6: 30,631,228 (GRCm39)	S381P	probably benign	Het
Crybg1	A	T	10: 43,851,035 (GRCm39)	V1612D	probably damaging	Het
Cyp2d11	A	T	15: 82,276,002 (GRCm39)	I193N	possibly damaging	Het
Gdi2	T	A	13: 3,598,866 (GRCm39)	C17S	probably benign	Het
Gm5436	T	A	12: 84,305,489 (GRCm39)		noncoding transcript	Het
Ifit1bl1	T	C	19: 34,572,040 (GRCm39)	Y139C	possibly damaging	Het
Insr	A	T	8: 3,261,391 (GRCm39)	M321K	probably benign	Het
Ippk	T	A	13: 49,599,852 (GRCm39)	L237Q	probably damaging	Het
Itpr1	T	A	6: 108,368,796 (GRCm39)	I149N	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lrp2	T	A	2: 69,343,617 (GRCm39)	H914L	probably damaging	Het
Myd88	G	T	9: 119,169,053 (GRCm39)		probably benign	Het
Myh2	T	C	11: 67,081,256 (GRCm39)	S1291P	probably benign	Het
Mylk3	G	A	8: 86,055,311 (GRCm39)	L549F	probably damaging	Het
Otog	T	C	7: 45,937,723 (GRCm39)	S1811P	possibly damaging	Het
Phrf1	T	C	7: 140,838,970 (GRCm39)		probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Prorp	G	T	12: 55,351,398 (GRCm39)	V236F	possibly damaging	Het
Ptprh	T	A	7: 4,583,987 (GRCm39)	T202S	probably damaging	Het
Ptprr	A	T	10: 116,072,615 (GRCm39)	K329N	probably benign	Het
Rgl3	T	A	9: 21,898,971 (GRCm39)	H156L	possibly damaging	Het
Sema6b	A	G	17: 56,435,307 (GRCm39)	V312A	probably damaging	Het
Sez6l	T	C	5: 112,609,032 (GRCm39)	I606V	probably benign	Het
Slco1a1	T	C	6: 141,881,688 (GRCm39)	E148G	probably damaging	Het
Snph	T	C	2: 151,435,722 (GRCm39)	D402G	probably damaging	Het
Sohlh1	A	G	2: 25,735,734 (GRCm39)	V135A	probably benign	Het
Sox14	T	C	9: 99,757,277 (GRCm39)	E154G	possibly damaging	Het
Spta1	A	G	1: 174,041,632 (GRCm39)	D1334G	probably benign	Het
Stard13	C	A	5: 151,016,294 (GRCm39)		probably null	Het
Szt2	A	G	4: 118,230,764 (GRCm39)		probably benign	Het
Tab2	G	A	10: 7,795,595 (GRCm39)	P296S	probably damaging	Het
Tbx15	A	G	3: 99,220,370 (GRCm39)	D48G	possibly damaging	Het
Tex10	T	C	4: 48,468,873 (GRCm39)	S101G	probably benign	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Tulp4	C	T	17: 6,282,055 (GRCm39)	H695Y	probably damaging	Het
Vmn1r66	A	G	7: 10,008,733 (GRCm39)	I100T	probably damaging	Het
Vmn2r106	A	T	17: 20,487,818 (GRCm39)	Y860*	probably null	Het
Vwa3b	C	T	1: 37,074,905 (GRCm39)	T24I	probably damaging	Het
Zfp541	G	A	7: 15,806,060 (GRCm39)	S65N	probably benign	Het
Zfp992	C	T	4: 146,551,976 (GRCm39)	H566Y	probably damaging	Het

Other mutations in Cwc25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2351:Cwc25	UTSW	11	97,638,218 (GRCm39)	missense	probably damaging	1.00
R4082:Cwc25	UTSW	11	97,644,744 (GRCm39)	missense	probably benign
R6263:Cwc25	UTSW	11	97,644,053 (GRCm39)	missense	probably damaging	1.00
R7002:Cwc25	UTSW	11	97,638,897 (GRCm39)	missense	probably damaging	0.96
R7213:Cwc25	UTSW	11	97,644,855 (GRCm39)	missense	probably benign	0.00
R7261:Cwc25	UTSW	11	97,648,585 (GRCm39)	missense	possibly damaging	0.80
R7282:Cwc25	UTSW	11	97,638,832 (GRCm39)	missense	possibly damaging	0.88
R7378:Cwc25	UTSW	11	97,638,823 (GRCm39)	missense	possibly damaging	0.46
R7978:Cwc25	UTSW	11	97,644,044 (GRCm39)	nonsense	probably null
R8040:Cwc25	UTSW	11	97,641,696 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGTGTCCACCAATGCAAGAGTG -3'
(R):5'- TGTGAACCATTCCCTATGCC -3'

Sequencing Primer
(F):5'- GAGACACAGACTTAGTATTTCCAAGG -3'
(R):5'- CTATGCCAGGTACTAACAGCGG -3'

Posted On

2015-05-15