Mutagenetix > Incidental Mutations

Incidental Mutation 'R5951:Wsb2'

470882

Institutional Source

Beutler Lab

Gene Symbol

Wsb2

Ensembl Gene

ENSMUSG00000029364

Gene Name

WD repeat and SOCS box-containing 2

Synonyms

MMRRC Submission

044141-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5951 (G1)

Quality Score

126

Status

Validated

Chromosome

Chromosomal Location

117357304-117378601 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117377535 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 402 (T402S)

Ref Sequence

ENSEMBL: ENSMUSP00000107590 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031309] [ENSMUST00000086461] [ENSMUST00000111959]

Predicted Effect

probably damaging
Transcript: ENSMUST00000031309
AA Change: T400S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031309
Gene: ENSMUSG00000029364
AA Change: T400S

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Blast:WD40	17	54	5e-17	BLAST
WD40	81	139	3.57e0	SMART
WD40	142	182	1.43e-9	SMART
WD40	186	225	1.59e-7	SMART
WD40	228	267	7.16e-10	SMART
WD40	270	321	6.53e-4	SMART
WD40	324	361	6.42e-1	SMART
SOCS	360	403	5.56e-17	SMART
SOCS_box	366	402	1.16e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000086461

SMART Domains

Protein: ENSMUSP00000083652
Gene: ENSMUSG00000029363

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
AAA	51	179	4.16e-14	SMART
Pfam:Rep_fac_C	241	327	1.8e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111959
AA Change: T402S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107590
Gene: ENSMUSG00000029364
AA Change: T402S

Domain	Start	End	E-Value	Type
low complexity region	4	17	N/A	INTRINSIC
Blast:WD40	18	56	7e-18	BLAST
WD40	83	141	3.57e0	SMART
WD40	144	184	1.43e-9	SMART
WD40	188	227	1.59e-7	SMART
WD40	230	269	7.16e-10	SMART
WD40	272	323	6.53e-4	SMART
WD40	326	363	6.42e-1	SMART
SOCS	362	405	5.56e-17	SMART
SOCS_box	368	404	1.16e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123392

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126262

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129369

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149669

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150962

Meta Mutation Damage Score

0.1146

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

100% (78/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD-protein subfamily. The encoded protein contains five WD-repeats spanning most of the protein and an SOCS box in the C-terminus. The SOCS box may act as a bridge between specific substrate-binding domains and E3 ubiquitin protein ligases. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,354,799	E180D	probably damaging	Het
Add3	A	G	19: 53,244,289		probably null	Het
Adgrv1	A	T	13: 81,442,501	I4396N	probably damaging	Het
Apc	C	T	18: 34,317,146	S2331L	possibly damaging	Het
Apoh	G	T	11: 108,395,903	C51F	probably damaging	Het
Arid4b	T	C	13: 14,143,063	V177A	possibly damaging	Het
Atp13a1	T	A	8: 69,797,285	I343N	probably damaging	Het
Bcar1	T	C	8: 111,713,400	D654G	probably benign	Het
Brox	T	C	1: 183,282,508	K245R	probably damaging	Het
Ccdc146	A	T	5: 21,319,579	S258R	possibly damaging	Het
Ccdc169	A	C	3: 55,140,141	K18Q	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Crot	C	A	5: 8,969,120	E478*	probably null	Het
Dgkq	A	T	5: 108,654,370	M443K	probably damaging	Het
Dhx32	A	T	7: 133,737,328	L326Q	probably damaging	Het
Dtwd1	A	G	2: 126,158,422	I93V	probably benign	Het
Ehmt2	C	T	17: 34,899,381	T44I	probably benign	Het
Enc1	T	C	13: 97,245,257	S92P	probably benign	Het
Epha5	T	C	5: 84,331,192		probably benign	Het
Eya4	T	A	10: 23,155,994	S244C	probably damaging	Het
Fmnl3	G	A	15: 99,325,910	R302W	probably damaging	Het
Fscn3	A	T	6: 28,436,174	I490F	possibly damaging	Het
Galntl6	A	G	8: 57,962,402	V239A	probably benign	Het
Glg1	T	C	8: 111,165,691	I841V	possibly damaging	Het
Gm15455	T	C	1: 33,837,812		noncoding transcript	Het
Gpd1l	C	T	9: 114,914,405	M142I	probably benign	Het
Helb	A	G	10: 120,091,748	V819A	possibly damaging	Het
Hnrnpul2	T	G	19: 8,824,891	F374C	probably damaging	Het
Hoxc10	G	A	15: 102,967,318	S154N	possibly damaging	Het
Ice2	A	T	9: 69,412,369	T367S	possibly damaging	Het
Iqca	A	T	1: 90,140,097		probably null	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Klhl14	T	A	18: 21,651,620	H250L	probably damaging	Het
Kmt2c	A	T	5: 25,330,803	D1447E	probably benign	Het
Larp1	G	T	11: 58,049,939	M630I	probably benign	Het
Lrp2	A	G	2: 69,496,323		probably null	Het
Map4k3	G	T	17: 80,603,998	Q673K	probably benign	Het
Mettl16	A	G	11: 74,795,997	N201D	possibly damaging	Het
Mrpl15	C	A	1: 4,785,733		probably benign	Het
Mthfd1l	T	A	10: 4,048,222	V655D	probably damaging	Het
Odf1	T	C	15: 38,226,287	Y144H	probably damaging	Het
Olfr1093	G	T	2: 86,786,227	V166L	probably benign	Het
Olfr38	G	T	6: 42,762,559	C169F	probably damaging	Het
Padi1	T	C	4: 140,814,829	Y594C	probably damaging	Het
Palm3	T	A	8: 84,029,420	D520E	probably benign	Het
Paox	G	A	7: 140,127,654	C130Y	probably damaging	Het
Parpbp	T	A	10: 88,139,907	S115C	probably damaging	Het
Pcnx3	A	G	19: 5,671,680	V1438A	possibly damaging	Het
Pdlim2	T	A	14: 70,167,780	D212V	probably benign	Het
Pi4ka	A	G	16: 17,303,142	F53L	probably damaging	Het
Pik3c2a	A	T	7: 116,368,184	D839E	probably damaging	Het
Pou2f1	T	C	1: 165,883,056		probably benign	Het
Ppl	A	T	16: 5,088,628	Y1268N	probably benign	Het
Prelid3a	C	T	18: 67,464,941	S6L	probably benign	Het
Ptk2	T	G	15: 73,303,833	D285A	possibly damaging	Het
Rasd2	T	G	8: 75,222,183	Y246D	probably damaging	Het
Rhbdl2	A	G	4: 123,814,327	T110A	probably benign	Het
Rhobtb1	T	A	10: 69,270,255	F217I	probably damaging	Het
Serhl	T	C	15: 83,103,036		probably benign	Het
Sh3tc2	A	G	18: 61,990,007	E613G	probably damaging	Het
Slc26a3	A	G	12: 31,452,715		probably benign	Het
Steap4	T	C	5: 7,975,769	I110T	probably benign	Het
Syde1	C	A	10: 78,589,316	R287L	possibly damaging	Het
Tmem184c	C	T	8: 77,598,662		probably null	Het
Trmt44	C	A	5: 35,572,688		probably benign	Het
Ttbk2	G	T	2: 120,773,283	S256R	probably benign	Het
Ttll6	A	T	11: 96,145,510	I322F	probably damaging	Het
Ubap2	A	T	4: 41,205,753		probably null	Het

Other mutations in Wsb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01446:Wsb2	APN	5	117371164	missense	probably damaging	0.97
IGL03201:Wsb2	APN	5	117376555	missense	possibly damaging	0.94
R0124:Wsb2	UTSW	5	117363758	missense	probably benign
R0479:Wsb2	UTSW	5	117376679	splice site	probably benign
R1148:Wsb2	UTSW	5	117370677	splice site	probably benign
R2002:Wsb2	UTSW	5	117370733	missense	probably benign	0.01
R4394:Wsb2	UTSW	5	117363578	splice site	probably benign
R4942:Wsb2	UTSW	5	117377485	missense	probably damaging	1.00
R5788:Wsb2	UTSW	5	117377418	missense	possibly damaging	0.82
R6564:Wsb2	UTSW	5	117370560	splice site	probably null
R7121:Wsb2	UTSW	5	117370879	missense	probably damaging	0.96
R7155:Wsb2	UTSW	5	117371095	missense	probably damaging	1.00
R7330:Wsb2	UTSW	5	117370762	missense	probably damaging	1.00
R7768:Wsb2	UTSW	5	117363722	missense	probably benign	0.29
R8377:Wsb2	UTSW	5	117376701	missense	possibly damaging	0.82
Z1088:Wsb2	UTSW	5	117377506	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTAAGCACTGGTCTCTGTTG -3'
(R):5'- GCACTTGGCTTCAACACAAC -3'

Sequencing Primer
(F):5'- TGTTTCAGGACGAGAGATGGCC -3'
(R):5'- TTGGCTTCAACACAACTAGACTG -3'

Posted On

2017-03-31