Mutagenetix > Incidental Mutation

Incidental Mutation 'R4232:Wscd2'

320903

Institutional Source

Beutler Lab

Gene Symbol

Wscd2

Ensembl Gene

ENSMUSG00000063430

Gene Name

WSC domain containing 2

Synonyms

4933413A10Rik, C530024P05Rik

MMRRC Submission

041051-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4232 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113490333-113589725 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113560984 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 200 (D200G)

Ref Sequence

ENSEMBL: ENSMUSP00000092021 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094452]

AlphaFold

D4PHA7

Predicted Effect

probably benign
Transcript: ENSMUST00000094452
AA Change: D200G

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

SMART Domains

Protein: ENSMUSP00000092021
Gene: ENSMUSG00000063430
AA Change: D200G

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
low complexity region	44	61	N/A	INTRINSIC
WSC	133	225	6.11e-44	SMART
WSC	236	330	9.49e-41	SMART
Blast:WSC	389	409	2e-6	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180565

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

92% (58/63)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
Ajuba	T	C	14: 54,569,526	R490G	probably damaging	Het
Akap6	T	A	12: 53,139,671	N1289K	probably damaging	Het
Arhgap21	A	G	2: 20,887,137	V161A	probably damaging	Het
Atg14	T	C	14: 47,551,345	K184E	probably benign	Het
Aven	A	G	2: 112,627,768	D167G	probably damaging	Het
Celsr2	A	G	3: 108,413,772	F575L	probably benign	Het
Cflar	A	T	1: 58,740,993	Q249L	possibly damaging	Het
Col7a1	G	A	9: 108,972,813		probably null	Het
Dmxl2	T	C	9: 54,419,909	D944G	possibly damaging	Het
Dnah1	T	C	14: 31,304,916	N717S	probably benign	Het
Dnaja3	T	A	16: 4,699,871	N322K	possibly damaging	Het
Dnajb3	A	G	1: 88,205,252	S143P	possibly damaging	Het
Dtx3	A	G	10: 127,193,189	I60T	possibly damaging	Het
Dvl3	A	G	16: 20,524,233		probably benign	Het
Fam71b	C	A	11: 46,407,405	T512K	possibly damaging	Het
Fkbp7	A	T	2: 76,663,317	D177E	possibly damaging	Het
Galnt7	T	C	8: 57,652,966	I5V	probably benign	Het
Helz2	A	T	2: 181,229,902	L2639Q	probably damaging	Het
Hnrnpr	T	C	4: 136,339,189	M394T	probably benign	Het
Ip6k2	G	A	9: 108,805,648	R319Q	probably benign	Het
Kif14	T	A	1: 136,516,363	C1364*	probably null	Het
Macf1	T	C	4: 123,432,392	E5104G	probably damaging	Het
Mkl1	T	A	15: 81,023,595	K29M	probably damaging	Het
Mrps30	T	C	13: 118,386,840	D132G	probably damaging	Het
Mtbp	CATGA	CATGAATGA	15: 55,620,677		probably null	Het
Nfkb1	A	G	3: 135,603,770	V521A	probably damaging	Het
Olfr1535	T	C	13: 21,555,461	D187G	probably damaging	Het
Olfr850	G	T	9: 19,477,726	L175M	probably damaging	Het
P2rx6	T	C	16: 17,570,767	L335P	probably damaging	Het
Pcdhga5	A	G	18: 37,695,948	D483G	possibly damaging	Het
Pgpep1l	T	C	7: 68,237,079	T161A	probably benign	Het
Prss40	A	G	1: 34,560,792	V38A	probably benign	Het
Ptk2	C	A	15: 73,309,849	R104L	possibly damaging	Het
Ralgapa1	C	T	12: 55,640,644	R2019Q	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rtp4	A	G	16: 23,613,083	N122D	possibly damaging	Het
Samd8	A	G	14: 21,780,145	Y213C	probably benign	Het
Shcbp1	T	A	8: 4,736,372	T577S	probably benign	Het
Tiprl	A	G	1: 165,222,587	V153A	probably damaging	Het
Tmprss7	A	T	16: 45,656,573	D775E	probably damaging	Het
Tnr	T	C	1: 159,886,215	S738P	possibly damaging	Het
Tsc22d4	T	C	5: 137,751,370		probably null	Het
Ttc21a	A	T	9: 119,942,618	H161L	probably benign	Het
Ubqln3	T	A	7: 104,141,803	E360V	probably benign	Het
Ugt1a10	C	A	1: 88,056,210	D243E	probably benign	Het
Vmn2r19	G	A	6: 123,329,912	V460I	probably benign	Het
Vmn2r58	T	A	7: 41,837,587	Y628F	possibly damaging	Het
Wnk1	A	T	6: 119,949,261	S1588T	possibly damaging	Het
Zfp831	G	C	2: 174,705,654	W1543C	possibly damaging	Het

Other mutations in Wscd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Wscd2	APN	5	113551175	missense	possibly damaging	0.56
IGL01113:Wscd2	APN	5	113570739	missense	probably damaging	1.00
IGL01476:Wscd2	APN	5	113572321	missense	probably damaging	0.99
IGL01894:Wscd2	APN	5	113572296	missense	probably damaging	0.96
IGL02560:Wscd2	APN	5	113560984	missense	probably benign	0.01
IGL02755:Wscd2	APN	5	113574031	missense	possibly damaging	0.66
froggie	UTSW	5	113588145	makesense	probably null
R0381:Wscd2	UTSW	5	113551131	missense	probably damaging	0.96
R1144:Wscd2	UTSW	5	113561090	splice site	probably null
R1858:Wscd2	UTSW	5	113551170	missense	possibly damaging	0.63
R3695:Wscd2	UTSW	5	113551017	missense	possibly damaging	0.82
R4231:Wscd2	UTSW	5	113560984	missense	probably benign	0.00
R4667:Wscd2	UTSW	5	113577272	missense	probably damaging	1.00
R4696:Wscd2	UTSW	5	113551179	missense	probably benign
R5727:Wscd2	UTSW	5	113577350	missense	possibly damaging	0.89
R6401:Wscd2	UTSW	5	113588145	makesense	probably null
R7413:Wscd2	UTSW	5	113577341	missense	probably benign	0.02
R7642:Wscd2	UTSW	5	113577414	missense	possibly damaging	0.67
R7837:Wscd2	UTSW	5	113572333	missense	probably damaging	1.00
R8046:Wscd2	UTSW	5	113551115	missense	probably benign	0.05
R8331:Wscd2	UTSW	5	113550935	start codon destroyed	probably null	0.99
R8348:Wscd2	UTSW	5	113572310	missense	possibly damaging	0.89
R8680:Wscd2	UTSW	5	113574174	missense	probably damaging	1.00
R8928:Wscd2	UTSW	5	113577340	missense	possibly damaging	0.90
R9125:Wscd2	UTSW	5	113577356	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- GCCTTATGGAGTAGGTATGACCC -3'
(R):5'- ATACTGAGGGCGAGACTGTC -3'

Sequencing Primer
(F):5'- ATGGAGTAGGTATGACCCCTATTC -3'
(R):5'- AGACTGTCAGGGACCCTCAG -3'

Posted On

2015-06-12