Mutagenetix > Incidental Mutation

Incidental Mutation 'R2252:Cwc27'

241771

Institutional Source

Beutler Lab

Gene Symbol

Cwc27

Ensembl Gene

ENSMUSG00000021715

Gene Name

CWC27 spliceosome-associated protein

Synonyms

NY-CO-10, 3110009E13Rik, Sdccag10

MMRRC Submission

040252-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2252 (G1)

Quality Score

186

Status

Not validated

Chromosome

Chromosomal Location

104767648-104953649 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104768237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 419 (H419Q)

Ref Sequence

ENSEMBL: ENSMUSP00000022228 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022228]

AlphaFold

Q3TKY6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022228
AA Change: H419Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022228
Gene: ENSMUSG00000021715
AA Change: H419Q

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	14	166	3.4e-47	PFAM
low complexity region	176	197	N/A	INTRINSIC
low complexity region	209	217	N/A	INTRINSIC
coiled coil region	309	341	N/A	INTRINSIC
low complexity region	452	469	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutant mice exhibit reduced viability. Surviors after birth show signs of growth retardation and retinal depigmentation, along with numerous neurological, immunological, and blood chemistry abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	A	14: 59,380,061 (GRCm39)	S79F	probably damaging	Het
Acaca	G	T	11: 84,262,358 (GRCm39)	V1987L	probably damaging	Het
B3gnt3	A	T	8: 72,145,462 (GRCm39)	M302K	probably damaging	Het
BC048507	T	C	13: 68,011,626 (GRCm39)	M1T	probably null	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Casp3	G	T	8: 47,090,990 (GRCm39)	W214L	probably damaging	Het
Cd180	A	T	13: 102,842,906 (GRCm39)	K651*	probably null	Het
Cdh15	T	A	8: 123,584,161 (GRCm39)	D87E	probably damaging	Het
Cldn24	G	T	8: 48,275,363 (GRCm39)	R62S	probably benign	Het
Cnot1	A	G	8: 96,489,814 (GRCm39)	V463A	probably benign	Het
Cspg4	C	T	9: 56,805,330 (GRCm39)	T2047I	probably damaging	Het
Cul2	A	T	18: 3,399,876 (GRCm39)	L3F	probably damaging	Het
Dgkg	A	T	16: 22,441,010 (GRCm39)	M1K	probably null	Het
Dock5	A	T	14: 68,022,261 (GRCm39)	L1171H	probably damaging	Het
Drc1	G	T	5: 30,500,075 (GRCm39)	V103F	probably benign	Het
Ep400	A	T	5: 110,866,957 (GRCm39)	N1062K	unknown	Het
Faap20	A	C	4: 155,335,010 (GRCm39)	E37A	possibly damaging	Het
Foxa2	A	G	2: 147,886,086 (GRCm39)	F243S	probably damaging	Het
Gzf1	T	C	2: 148,525,856 (GRCm39)	M109T	probably damaging	Het
Itch	T	A	2: 155,054,259 (GRCm39)	M701K	probably benign	Het
Kpna1	T	C	16: 35,841,939 (GRCm39)	Y280H	possibly damaging	Het
L1td1	A	G	4: 98,625,874 (GRCm39)		probably null	Het
Lrrc37a	T	C	11: 103,392,293 (GRCm39)	Q1044R	probably benign	Het
Lrrc52	A	T	1: 167,293,937 (GRCm39)	I116N	probably damaging	Het
Mbd5	A	G	2: 49,147,698 (GRCm39)	E636G	probably damaging	Het
Mrpl40	T	C	16: 18,694,125 (GRCm39)	H29R	probably benign	Het
Nrip1	T	C	16: 76,088,173 (GRCm39)	Y1128C	probably damaging	Het
Or10d3	G	T	9: 39,461,273 (GRCm39)	A298D	probably damaging	Het
Or4g16	A	G	2: 111,136,655 (GRCm39)	Y35C	probably damaging	Het
Or5ak20	A	G	2: 85,184,202 (GRCm39)	S23P	possibly damaging	Het
Or8c8	A	G	9: 38,165,126 (GRCm39)	I135V	probably benign	Het
Pard3	A	T	8: 128,337,080 (GRCm39)	E1232V	probably damaging	Het
Pcif1	A	G	2: 164,732,799 (GRCm39)	E628G	probably benign	Het
Pcsk1	C	A	13: 75,274,845 (GRCm39)	A478D	probably benign	Het
Pkd1l2	T	C	8: 117,784,177 (GRCm39)	Y700C	probably damaging	Het
Pknox2	T	C	9: 36,821,816 (GRCm39)	N270D	probably benign	Het
Plcb2	T	C	2: 118,554,246 (GRCm39)	N69S	probably benign	Het
Reep1	T	A	6: 71,733,426 (GRCm39)		probably null	Het
Sash1	A	T	10: 8,605,741 (GRCm39)	M883K	probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Septin4	A	G	11: 87,480,637 (GRCm39)	N405D	possibly damaging	Het
Serpinb3b	T	C	1: 107,083,208 (GRCm39)	I231M	possibly damaging	Het
Serping1	A	G	2: 84,600,195 (GRCm39)	S322P	probably damaging	Het
Slc7a2	T	C	8: 41,358,658 (GRCm39)	Y334H	probably benign	Het
Spink5	G	T	18: 44,153,891 (GRCm39)	E1013*	probably null	Het
Thoc3	A	T	13: 54,615,646 (GRCm39)	N139K	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tubb2b	T	A	13: 34,314,198 (GRCm39)	I7F	possibly damaging	Het
Upf2	A	G	2: 5,966,271 (GRCm39)	D297G	unknown	Het
Vmn2r18	T	C	5: 151,508,441 (GRCm39)	I228V	possibly damaging	Het
Vmn2r98	A	C	17: 19,300,698 (GRCm39)	S567R	probably benign	Het
Vwa5a	T	C	9: 38,639,376 (GRCm39)	I369T	probably damaging	Het
Yjefn3	A	C	8: 70,342,095 (GRCm39)	F42V	probably damaging	Het
Zfp472	A	T	17: 33,195,257 (GRCm39)	R69*	probably null	Het
Zfp536	T	C	7: 37,178,814 (GRCm39)	S200G	probably benign	Het
Zfp970	T	A	2: 177,166,614 (GRCm39)		probably null	Het

Other mutations in Cwc27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01955:Cwc27	APN	13	104,944,245 (GRCm39)	missense	probably damaging	1.00
IGL02240:Cwc27	APN	13	104,943,151 (GRCm39)	missense	probably damaging	0.97
IGL02398:Cwc27	APN	13	104,940,762 (GRCm39)	missense	possibly damaging	0.82
IGL02620:Cwc27	APN	13	104,938,714 (GRCm39)	splice site	probably benign
IGL03213:Cwc27	APN	13	104,932,911 (GRCm39)	splice site	probably benign
pam1	UTSW	13	104,797,865 (GRCm39)	nonsense	probably null
R0375:Cwc27	UTSW	13	104,944,331 (GRCm39)	missense	possibly damaging	0.94
R0483:Cwc27	UTSW	13	104,947,724 (GRCm39)	critical splice donor site	probably null
R0534:Cwc27	UTSW	13	104,768,124 (GRCm39)	missense	unknown
R0550:Cwc27	UTSW	13	104,941,457 (GRCm39)	missense	probably damaging	1.00
R0562:Cwc27	UTSW	13	104,797,865 (GRCm39)	nonsense	probably null
R0563:Cwc27	UTSW	13	104,797,865 (GRCm39)	nonsense	probably null
R0564:Cwc27	UTSW	13	104,797,865 (GRCm39)	nonsense	probably null
R0972:Cwc27	UTSW	13	104,797,865 (GRCm39)	nonsense	probably null
R1536:Cwc27	UTSW	13	104,933,814 (GRCm39)	missense	probably damaging	1.00
R1546:Cwc27	UTSW	13	104,938,693 (GRCm39)	missense	probably damaging	1.00
R1587:Cwc27	UTSW	13	104,929,145 (GRCm39)	missense	probably benign	0.00
R1934:Cwc27	UTSW	13	104,768,184 (GRCm39)	missense	probably benign	0.28
R2159:Cwc27	UTSW	13	104,940,837 (GRCm39)	missense	probably damaging	0.98
R2249:Cwc27	UTSW	13	104,768,130 (GRCm39)	missense	unknown
R2394:Cwc27	UTSW	13	104,932,942 (GRCm39)	missense	probably benign	0.01
R2698:Cwc27	UTSW	13	104,943,259 (GRCm39)	missense	probably damaging	0.99
R3899:Cwc27	UTSW	13	104,929,023 (GRCm39)	nonsense	probably null
R5121:Cwc27	UTSW	13	104,940,861 (GRCm39)	missense	probably damaging	1.00
R6317:Cwc27	UTSW	13	104,940,769 (GRCm39)	nonsense	probably null
R6763:Cwc27	UTSW	13	104,947,809 (GRCm39)	missense	probably damaging	1.00
R7187:Cwc27	UTSW	13	104,797,900 (GRCm39)	missense	probably benign	0.01
R7958:Cwc27	UTSW	13	104,941,472 (GRCm39)	missense	probably benign	0.01
R8465:Cwc27	UTSW	13	104,940,776 (GRCm39)	missense	possibly damaging	0.49
R8465:Cwc27	UTSW	13	104,940,772 (GRCm39)	missense	probably benign
R8466:Cwc27	UTSW	13	104,940,776 (GRCm39)	missense	possibly damaging	0.49
R8466:Cwc27	UTSW	13	104,940,772 (GRCm39)	missense	probably benign
R8483:Cwc27	UTSW	13	104,940,776 (GRCm39)	missense	possibly damaging	0.49
R8483:Cwc27	UTSW	13	104,940,772 (GRCm39)	missense	probably benign
R8485:Cwc27	UTSW	13	104,940,776 (GRCm39)	missense	possibly damaging	0.49
R8485:Cwc27	UTSW	13	104,940,772 (GRCm39)	missense	probably benign
R9320:Cwc27	UTSW	13	104,933,799 (GRCm39)	missense	probably benign
R9710:Cwc27	UTSW	13	104,943,158 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACATGGCTGTGACAGGAC -3'
(R):5'- AGCCCAAGACTTTGCTAGG -3'

Sequencing Primer
(F):5'- TGTGACAGGACACCCCACAG -3'
(R):5'- CTAGGCCAGCTCTGCCG -3'

Posted On

2014-10-16