Mutagenetix > Incidental Mutations

Incidental Mutation 'R5363:Cwc22'

422908

Institutional Source

Beutler Lab

Gene Symbol

Cwc22

Ensembl Gene

ENSMUSG00000027014

Gene Name

CWC22 spliceosome-associated protein

Synonyms

MMRRC Submission

042941-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5363 (G1)

Quality Score

107

Status

Not validated

Chromosome

Chromosomal Location

77881159-77946375 bp(-) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

ATCTCTCTCTCTCTCTCT to ATCTCTCTCTCTCTCT at 77929459 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115067 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065889] [ENSMUST00000111818] [ENSMUST00000111819] [ENSMUST00000111821] [ENSMUST00000111824] [ENSMUST00000127289] [ENSMUST00000128963]

AlphaFold

Q8C5N3

Predicted Effect

probably null
Transcript: ENSMUST00000065889

SMART Domains

Protein: ENSMUSP00000064947
Gene: ENSMUSG00000027014

Domain	Start	End	E-Value	Type
low complexity region	37	98	N/A	INTRINSIC
MIF4G	161	344	1e-33	SMART
low complexity region	421	438	N/A	INTRINSIC
MA3	454	560	4.45e-26	SMART
low complexity region	669	712	N/A	INTRINSIC
low complexity region	746	777	N/A	INTRINSIC
low complexity region	847	862	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000111818

SMART Domains

Protein: ENSMUSP00000107449
Gene: ENSMUSG00000027014

Domain	Start	End	E-Value	Type
low complexity region	37	98	N/A	INTRINSIC
MIF4G	161	344	1e-33	SMART
low complexity region	421	438	N/A	INTRINSIC
MA3	454	560	4.45e-26	SMART
low complexity region	668	713	N/A	INTRINSIC
low complexity region	740	771	N/A	INTRINSIC
low complexity region	841	856	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000111819

SMART Domains

Protein: ENSMUSP00000107450
Gene: ENSMUSG00000027014

Domain	Start	End	E-Value	Type
low complexity region	38	99	N/A	INTRINSIC
MIF4G	162	345	1e-33	SMART
low complexity region	422	439	N/A	INTRINSIC
MA3	455	561	4.45e-26	SMART
low complexity region	669	714	N/A	INTRINSIC
low complexity region	741	772	N/A	INTRINSIC
low complexity region	842	857	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000111821

SMART Domains

Protein: ENSMUSP00000107452
Gene: ENSMUSG00000027014

Domain	Start	End	E-Value	Type
low complexity region	37	98	N/A	INTRINSIC
MIF4G	161	344	1e-33	SMART
low complexity region	421	438	N/A	INTRINSIC
MA3	454	560	4.45e-26	SMART
low complexity region	669	712	N/A	INTRINSIC
low complexity region	746	777	N/A	INTRINSIC
low complexity region	847	862	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000111824

SMART Domains

Protein: ENSMUSP00000107455
Gene: ENSMUSG00000027014

Domain	Start	End	E-Value	Type
low complexity region	37	98	N/A	INTRINSIC
MIF4G	161	344	1e-33	SMART
low complexity region	421	438	N/A	INTRINSIC
MA3	454	560	4.45e-26	SMART
low complexity region	669	715	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000127289

SMART Domains

Protein: ENSMUSP00000122338
Gene: ENSMUSG00000027014

Domain	Start	End	E-Value	Type
low complexity region	38	99	N/A	INTRINSIC
PDB:4C9B\|B	115	139	2e-9	PDB
Blast:MIF4G	118	139	1e-6	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127351

Predicted Effect

probably null
Transcript: ENSMUST00000128963

SMART Domains

Protein: ENSMUSP00000115067
Gene: ENSMUSG00000027014

Domain	Start	End	E-Value	Type
low complexity region	37	98	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137494

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144727

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149012

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156863

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	G	T	2: 148,783,378	L77F	probably damaging	Het
Abca1	A	G	4: 53,132,963	I40T	probably benign	Het
Abca13	T	C	11: 9,277,035	V597A	possibly damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Anapc1	A	G	2: 128,650,194		probably null	Het
Ap4e1	G	A	2: 127,037,864		probably null	Het
Apod	T	C	16: 31,311,091	T16A	probably benign	Het
Arrdc5	C	T	17: 56,300,138	V36M	probably damaging	Het
Bcan	A	G	3: 87,995,487	V328A	probably damaging	Het
Bche	A	G	3: 73,700,639	Y485H	probably damaging	Het
Btbd6	A	G	12: 112,978,136	Y356C	probably damaging	Het
Cdh4	A	G	2: 179,886,763	T555A	probably benign	Het
Ciita	C	T	16: 10,512,167	H769Y	probably damaging	Het
Clspn	A	G	4: 126,561,786	D35G	possibly damaging	Het
Cpsf3	T	A	12: 21,308,985	M562K	probably benign	Het
Cyp2a22	T	A	7: 26,936,433	Q235L	probably damaging	Het
Dicer1	A	G	12: 104,703,151	S1091P	probably damaging	Het
Dync1li1	T	A	9: 114,715,229	I323N	probably damaging	Het
Fam196b	G	A	11: 34,402,788	E277K	probably damaging	Het
Fat4	A	G	3: 38,888,005	N349S	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Hectd4	T	C	5: 121,310,603	M338T	probably benign	Het
Lactb2	A	T	1: 13,630,132	I225N	probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Mrps30	A	G	13: 118,387,162	S25P	probably benign	Het
Myg1	T	C	15: 102,337,824	V378A	probably benign	Het
Notch4	C	T	17: 34,587,123	T1731I	probably damaging	Het
Ntmt1	A	G	2: 30,820,648	D121G	probably damaging	Het
Olfr1167	A	T	2: 88,149,802	D72E	probably damaging	Het
Olfr763	C	A	10: 129,011,914	P210T	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pclo	A	G	5: 14,669,410	D1187G	unknown	Het
Pkd1	T	A	17: 24,565,073	Y198N	probably benign	Het
Plk4	T	A	3: 40,801,984	N83K	possibly damaging	Het
Prune2	A	T	19: 17,118,266	Q378L	probably damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rasa1	G	T	13: 85,288,555	T118K	possibly damaging	Het
Rin3	G	A	12: 102,325,834	V97M	probably damaging	Het
Rock2	T	C	12: 16,965,654		probably null	Het
Slc34a1	A	G	13: 55,403,268	I289V	probably benign	Het
Slc34a1	T	C	13: 55,412,290	L443P	probably damaging	Het
Slco2a1	A	T	9: 103,070,263	I254F	probably damaging	Het
Spink11	T	C	18: 44,195,686	I32V	probably benign	Het
Spire1	T	C	18: 67,506,555	E296G	probably damaging	Het
Sun1	A	G	5: 139,234,743	N410D	probably damaging	Het
Syt14	T	A	1: 192,930,663	T610S	possibly damaging	Het
Tenm3	T	C	8: 48,287,831	I1206V	possibly damaging	Het
Tet3	A	T	6: 83,376,764		probably null	Het
Thbs1	A	T	2: 118,122,666	Q919L	probably damaging	Het
Trappc10	A	G	10: 78,188,840	F1152L	possibly damaging	Het
Trp63	C	A	16: 25,863,718	N176K	probably damaging	Het
Zbtb17	A	G	4: 141,466,761	E700G	probably benign	Het
Zfp446	G	A	7: 12,978,057	R69H	probably benign	Het
Zfy2	C	T	Y: 2,106,555	C693Y	possibly damaging	Het
Zxdc	A	G	6: 90,382,146	T587A	probably damaging	Het
Zyg11a	A	G	4: 108,189,622	C552R	probably damaging	Het

Other mutations in Cwc22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01399:Cwc22	APN	2	77917064	missense	probably benign	0.00
IGL01739:Cwc22	APN	2	77927296	missense	probably damaging	1.00
IGL01754:Cwc22	APN	2	77924539	missense	probably damaging	0.99
IGL02011:Cwc22	APN	2	77921022	missense	possibly damaging	0.88
R0115:Cwc22	UTSW	2	77908111	missense	probably damaging	1.00
R0271:Cwc22	UTSW	2	77920858	missense	probably benign	0.19
R0481:Cwc22	UTSW	2	77908111	missense	probably damaging	1.00
R1086:Cwc22	UTSW	2	77924480	unclassified	probably benign
R1165:Cwc22	UTSW	2	77903898	missense	probably damaging	0.98
R1394:Cwc22	UTSW	2	77929479	missense	possibly damaging	0.91
R1445:Cwc22	UTSW	2	77917177	splice site	probably benign
R1448:Cwc22	UTSW	2	77911555	missense	probably damaging	1.00
R1640:Cwc22	UTSW	2	77915530	missense	possibly damaging	0.82
R1800:Cwc22	UTSW	2	77929453	missense	possibly damaging	0.70
R1822:Cwc22	UTSW	2	77924659	unclassified	probably benign
R1916:Cwc22	UTSW	2	77905475	missense	probably benign	0.28
R2225:Cwc22	UTSW	2	77908151	splice site	probably benign
R2360:Cwc22	UTSW	2	77927247	missense	probably damaging	1.00
R3113:Cwc22	UTSW	2	77924479	unclassified	probably benign
R4962:Cwc22	UTSW	2	77896309	missense	probably benign	0.00
R5394:Cwc22	UTSW	2	77929339	missense	possibly damaging	0.67
R5467:Cwc22	UTSW	2	77929459	frame shift	probably null
R5531:Cwc22	UTSW	2	77924569	missense	probably damaging	0.99
R5677:Cwc22	UTSW	2	77929443	missense	probably damaging	0.97
R6148:Cwc22	UTSW	2	77929459	frame shift	probably null
R6263:Cwc22	UTSW	2	77896171	missense	possibly damaging	0.93
R6860:Cwc22	UTSW	2	77929448	missense	possibly damaging	0.53
R7133:Cwc22	UTSW	2	77929478	missense	possibly damaging	0.91
R7571:Cwc22	UTSW	2	77917067	missense	probably benign
R8168:Cwc22	UTSW	2	77927271	missense	probably damaging	1.00
R8709:Cwc22	UTSW	2	77896350	missense	probably benign	0.22
R8758:Cwc22	UTSW	2	77917097	missense	possibly damaging	0.81
R8954:Cwc22	UTSW	2	77924593	missense	probably damaging	0.97
R9129:Cwc22	UTSW	2	77896315	nonsense	probably null
R9266:Cwc22	UTSW	2	77924608	missense	probably benign	0.03
R9273:Cwc22	UTSW	2	77929459	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- TTGCTCTGGAGGTGCAGTAC -3'
(R):5'- GGTACCCTCTCTGTGAGTATTG -3'

Sequencing Primer
(F):5'- TGCAGTACATCAGCGTACCTG -3'
(R):5'- GTGAGTATTGCTTCACCATCCTGAAC -3'

Posted On

2016-08-04