Mutagenetix > Incidental Mutation

Incidental Mutation 'R1916:Cwc22'

214831

Institutional Source

Beutler Lab

Gene Symbol

Cwc22

Ensembl Gene

ENSMUSG00000027014

Gene Name

CWC22 spliceosome-associated protein

Synonyms

MMRRC Submission

039934-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1916 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77711503-77776719 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77735819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 566 (C566S)

Ref Sequence

ENSEMBL: ENSMUSP00000107455 (fasta)

Gene Model

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

AlphaFold

Q8C5N3

Predicted Effect

probably benign
Transcript: ENSMUST00000065889
AA Change: C566S

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000064947
Gene: ENSMUSG00000027014
AA Change: C566S

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 benign
Transcript: ENSMUST00000111818
AA Change: C566S

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000107449
Gene: ENSMUSG00000027014
AA Change: C566S

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 benign
Transcript: ENSMUST00000111819
AA Change: C567S

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000107450
Gene: ENSMUSG00000027014
AA Change: C567S

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 benign
Transcript: ENSMUST00000111821
AA Change: C566S

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000107452
Gene: ENSMUSG00000027014
AA Change: C566S

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 benign
Transcript: ENSMUST00000111824
AA Change: C566S

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107455
Gene: ENSMUSG00000027014
AA Change: C566S

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

noncoding transcript
Transcript: ENSMUST00000137494

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139842

Meta Mutation Damage Score

0.2845

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.5%

Validation Efficiency

99% (97/98)

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	G	3: 59,652,924 (GRCm39)	K121R	possibly damaging	Het
Abca13	G	T	11: 9,484,456 (GRCm39)	W4342L	probably damaging	Het
Abcg8	A	T	17: 84,995,958 (GRCm39)		probably null	Het
Acaa1b	A	G	9: 118,985,730 (GRCm39)	L65P	probably damaging	Het
Adam6a	G	T	12: 113,509,556 (GRCm39)	R643L	probably benign	Het
Agbl2	A	T	2: 90,645,785 (GRCm39)	R839S	possibly damaging	Het
Ambra1	A	T	2: 91,741,806 (GRCm39)	N967I	probably damaging	Het
Ankrd17	T	A	5: 90,408,000 (GRCm39)	N1406Y	probably damaging	Het
Armh4	T	C	14: 50,005,932 (GRCm39)	T588A	probably damaging	Het
Bbx	G	T	16: 50,086,608 (GRCm39)	S96Y	probably damaging	Het
Cdh12	T	A	15: 21,520,336 (GRCm39)		probably null	Het
Cdh9	A	C	15: 16,823,361 (GRCm39)	R114S	probably benign	Het
Cenpo	T	G	12: 4,266,683 (GRCm39)	I142L	probably benign	Het
Cfap69	T	C	5: 5,713,970 (GRCm39)	K21E	probably damaging	Het
Chmp4c	A	T	3: 10,454,996 (GRCm39)	D221V	probably benign	Het
Cstf3	T	A	2: 104,486,101 (GRCm39)	V447D	possibly damaging	Het
Dgkh	A	G	14: 78,832,663 (GRCm39)	M798T	probably damaging	Het
Dnai2	T	C	11: 114,623,749 (GRCm39)	V4A	possibly damaging	Het
Dnai7	A	C	6: 145,121,926 (GRCm39)	V631G	probably benign	Het
Dnmbp	T	G	19: 43,890,007 (GRCm39)	I587L	possibly damaging	Het
Dock6	A	T	9: 21,724,387 (GRCm39)	M301K	probably damaging	Het
Dock8	T	C	19: 25,038,521 (GRCm39)	M69T	probably benign	Het
Ears2	T	C	7: 121,643,801 (GRCm39)	S386G	probably benign	Het
Ecsit	T	C	9: 21,983,817 (GRCm39)	I371V	probably benign	Het
Eif4a3	T	C	11: 119,184,737 (GRCm39)	I216V	probably benign	Het
Emp1	A	G	6: 135,357,128 (GRCm39)	I69V	probably damaging	Het
Epg5	A	G	18: 78,008,236 (GRCm39)	D788G	probably benign	Het
Eps15	A	G	4: 109,226,171 (GRCm39)	K324E	probably damaging	Het
Extl3	A	G	14: 65,315,071 (GRCm39)	F37S	probably benign	Het
Fam83g	A	G	11: 61,585,994 (GRCm39)	D194G	probably damaging	Het
Gcc2	A	G	10: 58,112,485 (GRCm39)	D1005G	probably damaging	Het
Gm10226	T	A	17: 21,910,916 (GRCm39)	H50Q	possibly damaging	Het
Gm1110	A	T	9: 26,800,934 (GRCm39)	V420E	probably damaging	Het
Gm16503	A	G	4: 147,625,667 (GRCm39)	R54G	unknown	Het
Grin3b	T	C	10: 79,810,432 (GRCm39)	M646T	probably damaging	Het
Grm8	T	C	6: 27,363,583 (GRCm39)	D644G	probably benign	Het
Gtf2i	C	A	5: 134,275,702 (GRCm39)	V660F	probably damaging	Het
Heatr4	G	T	12: 84,002,591 (GRCm39)	Q808K	probably benign	Het
Hif3a	T	C	7: 16,773,581 (GRCm39)	S573G	possibly damaging	Het
Htr2b	C	T	1: 86,027,523 (GRCm39)	V328M	probably damaging	Het
Jph1	T	C	1: 17,162,279 (GRCm39)	T128A	probably damaging	Het
Kcnt1	T	C	2: 25,790,481 (GRCm39)	V481A	probably damaging	Het
Khk	A	G	5: 31,087,962 (GRCm39)	Y212C	probably damaging	Het
Lgi2	T	A	5: 52,703,974 (GRCm39)	Q219L	probably benign	Het
Lipf	T	A	19: 33,943,075 (GRCm39)	Y128N	probably benign	Het
Lipg	A	G	18: 75,094,008 (GRCm39)	V13A	probably benign	Het
Lrrc8e	T	C	8: 4,285,202 (GRCm39)	S476P	probably benign	Het
Map2k7	T	G	8: 4,295,795 (GRCm39)	V425G	probably benign	Het
Mycbp2	A	T	14: 103,422,319 (GRCm39)	S2451R	probably damaging	Het
Mylk3	A	G	8: 86,053,821 (GRCm39)	S629P	probably damaging	Het
Nrp2	A	T	1: 62,801,906 (GRCm39)	I450F	probably damaging	Het
Or4c126	T	C	2: 89,824,148 (GRCm39)	V137A	probably benign	Het
Or8g50	A	G	9: 39,648,918 (GRCm39)	D269G	probably benign	Het
Osbpl11	T	C	16: 33,006,213 (GRCm39)	S14P	probably benign	Het
Osbpl11	T	A	16: 33,030,465 (GRCm39)	V231D	possibly damaging	Het
Parg	T	A	14: 31,930,184 (GRCm39)		probably benign	Het
Pax9	G	T	12: 56,743,923 (GRCm39)	R190L	possibly damaging	Het
Prss12	G	A	3: 123,300,144 (GRCm39)	V752I	probably benign	Het
Pstpip2	A	G	18: 77,922,892 (GRCm39)	N34S	probably damaging	Het
Rarg	T	C	15: 102,160,880 (GRCm39)	D53G	probably benign	Het
Rbak	T	C	5: 143,161,871 (GRCm39)	K53R	probably damaging	Het
Scgn	A	T	13: 24,162,808 (GRCm39)	S107R	probably damaging	Het
Sema3c	A	G	5: 17,932,399 (GRCm39)	Q634R	probably benign	Het
Serpinh1	A	G	7: 98,998,288 (GRCm39)	L114P	probably damaging	Het
Slc35f4	T	C	14: 49,541,380 (GRCm39)		probably benign	Het
Sned1	A	T	1: 93,201,884 (GRCm39)	I617F	probably null	Het
Spata31	C	T	13: 65,070,359 (GRCm39)	R836*	probably null	Het
Spen	A	G	4: 141,199,909 (GRCm39)	L2883P	probably damaging	Het
Stmn3	A	T	2: 180,949,073 (GRCm39)	M140K	possibly damaging	Het
Syn3	A	G	10: 86,190,208 (GRCm39)		probably null	Het
Tamalin	T	C	15: 101,124,850 (GRCm39)		probably benign	Het
Tor4a	A	G	2: 25,085,414 (GRCm39)	V163A	possibly damaging	Het
Ttc12	A	G	9: 49,371,698 (GRCm39)	Y189H	probably damaging	Het
Ubxn7	T	G	16: 32,200,577 (GRCm39)		probably benign	Het
Unc5b	G	A	10: 60,614,027 (GRCm39)	T274I	probably damaging	Het
Upk1b	C	A	16: 38,596,548 (GRCm39)		probably null	Het
Usp18	A	G	6: 121,245,513 (GRCm39)	I296M	probably benign	Het
Usp42	A	G	5: 143,700,811 (GRCm39)	Y1071H	probably damaging	Het
Vil1	A	G	1: 74,457,684 (GRCm39)	T106A	probably benign	Het
Vmn1r42	T	A	6: 89,821,949 (GRCm39)	I207F	probably benign	Het
Vmn1r63	A	G	7: 5,806,225 (GRCm39)	F136L	probably damaging	Het
Vopp1	C	T	6: 57,731,572 (GRCm39)	V140I	probably benign	Het
Wdhd1	T	C	14: 47,496,034 (GRCm39)	D610G	possibly damaging	Het
Wdr48	T	A	9: 119,741,483 (GRCm39)	D142E	probably benign	Het
Whrn	A	G	4: 63,412,969 (GRCm39)	Y10H	probably damaging	Het
Zmat3	A	G	3: 32,397,497 (GRCm39)	V216A	probably benign	Het
Zmym2	C	T	14: 57,197,299 (GRCm39)	R1356W	probably damaging	Het
Zyg11b	A	T	4: 108,129,480 (GRCm39)	L44Q	probably damaging	Het

Other mutations in Cwc22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01399:Cwc22	APN	2	77,747,408 (GRCm39)	missense	probably benign	0.00
IGL01739:Cwc22	APN	2	77,757,640 (GRCm39)	missense	probably damaging	1.00
IGL01754:Cwc22	APN	2	77,754,883 (GRCm39)	missense	probably damaging	0.99
IGL02011:Cwc22	APN	2	77,751,366 (GRCm39)	missense	possibly damaging	0.88
R0115:Cwc22	UTSW	2	77,738,455 (GRCm39)	missense	probably damaging	1.00
R0271:Cwc22	UTSW	2	77,751,202 (GRCm39)	missense	probably benign	0.19
R0481:Cwc22	UTSW	2	77,738,455 (GRCm39)	missense	probably damaging	1.00
R1086:Cwc22	UTSW	2	77,754,824 (GRCm39)	unclassified	probably benign
R1165:Cwc22	UTSW	2	77,734,242 (GRCm39)	missense	probably damaging	0.98
R1394:Cwc22	UTSW	2	77,759,823 (GRCm39)	missense	possibly damaging	0.91
R1445:Cwc22	UTSW	2	77,747,521 (GRCm39)	splice site	probably benign
R1448:Cwc22	UTSW	2	77,741,899 (GRCm39)	missense	probably damaging	1.00
R1640:Cwc22	UTSW	2	77,745,874 (GRCm39)	missense	possibly damaging	0.82
R1800:Cwc22	UTSW	2	77,759,797 (GRCm39)	missense	possibly damaging	0.70
R1822:Cwc22	UTSW	2	77,755,003 (GRCm39)	unclassified	probably benign
R2225:Cwc22	UTSW	2	77,738,495 (GRCm39)	splice site	probably benign
R2360:Cwc22	UTSW	2	77,757,591 (GRCm39)	missense	probably damaging	1.00
R3113:Cwc22	UTSW	2	77,754,823 (GRCm39)	unclassified	probably benign
R4962:Cwc22	UTSW	2	77,726,653 (GRCm39)	missense	probably benign	0.00
R5363:Cwc22	UTSW	2	77,759,803 (GRCm39)	frame shift	probably null
R5394:Cwc22	UTSW	2	77,759,683 (GRCm39)	missense	possibly damaging	0.67
R5467:Cwc22	UTSW	2	77,759,803 (GRCm39)	frame shift	probably null
R5531:Cwc22	UTSW	2	77,754,913 (GRCm39)	missense	probably damaging	0.99
R5677:Cwc22	UTSW	2	77,759,787 (GRCm39)	missense	probably damaging	0.97
R6148:Cwc22	UTSW	2	77,759,803 (GRCm39)	frame shift	probably null
R6263:Cwc22	UTSW	2	77,726,515 (GRCm39)	missense	possibly damaging	0.93
R6860:Cwc22	UTSW	2	77,759,792 (GRCm39)	missense	possibly damaging	0.53
R7133:Cwc22	UTSW	2	77,759,822 (GRCm39)	missense	possibly damaging	0.91
R7571:Cwc22	UTSW	2	77,747,411 (GRCm39)	missense	probably benign
R8168:Cwc22	UTSW	2	77,757,615 (GRCm39)	missense	probably damaging	1.00
R8709:Cwc22	UTSW	2	77,726,694 (GRCm39)	missense	probably benign	0.22
R8758:Cwc22	UTSW	2	77,747,441 (GRCm39)	missense	possibly damaging	0.81
R8954:Cwc22	UTSW	2	77,754,937 (GRCm39)	missense	probably damaging	0.97
R9129:Cwc22	UTSW	2	77,726,659 (GRCm39)	nonsense	probably null
R9266:Cwc22	UTSW	2	77,754,952 (GRCm39)	missense	probably benign	0.03
R9273:Cwc22	UTSW	2	77,759,803 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- CTTACCCAAAGTCCCAGAGG -3'
(R):5'- TGCCAAGAAAGAATCCATGTCTG -3'

Sequencing Primer
(F):5'- CAGAGTACAGCTGTATGTGCTAC -3'
(R):5'- ATGTCTGCATGAGGGACGTG -3'

Posted On

2014-07-14