Mutagenetix > Incidental Mutation

Incidental Mutation 'R7339:Wsb1'

569718

Institutional Source

Beutler Lab

Gene Symbol

Wsb1

Ensembl Gene

ENSMUSG00000017677

Gene Name

WD repeat and SOCS box-containing 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.506) question?

Stock #

R7339 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79239372-79254671 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79240358 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 404 (V404A)

Ref Sequence

ENSEMBL: ENSMUSP00000017821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017821] [ENSMUST00000131848] [ENSMUST00000145772]

AlphaFold

O54927

Predicted Effect

probably damaging
Transcript: ENSMUST00000017821
AA Change: V404A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000017821
Gene: ENSMUSG00000017677
AA Change: V404A

Domain	Start	End	E-Value	Type
Blast:WD40	25	62	2e-16	BLAST
WD40	117	156	8.4e-2	SMART
WD40	159	199	2.5e-10	SMART
WD40	203	242	5.9e-10	SMART
WD40	245	284	2.9e-11	SMART
WD40	300	339	1.2e-5	SMART
WD40	342	379	1.1e-4	SMART
SOCS	378	420	2.7e-18	SMART
SOCS_box	384	420	4.1e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131818

SMART Domains

Protein: ENSMUSP00000131290
Gene: ENSMUSG00000017677

Domain	Start	End	E-Value	Type
WD40	48	87	1.33e1	SMART
WD40	90	130	3.72e-8	SMART
WD40	134	172	4.18e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131848

SMART Domains

Protein: ENSMUSP00000128181
Gene: ENSMUSG00000017677

Domain	Start	End	E-Value	Type
Blast:WD40	25	62	2e-19	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000145772

SMART Domains

Protein: ENSMUSP00000137999
Gene: ENSMUSG00000017677

Domain	Start	End	E-Value	Type
Blast:WD40	25	62	3e-19	BLAST

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

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. This protein shares a high sequence identity to mouse and chick proteins. It contains several WD-repeats spanning most of the protein and an SOCS box in the C-terminus. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,272,384		probably null	Het
2900026A02Rik	T	C	5: 113,183,072	D1092G	probably benign	Het
9030624J02Rik	A	T	7: 118,809,971	I612F	probably damaging	Het
Abcb11	C	T	2: 69,299,867	D282N	probably damaging	Het
Ahnak	A	T	19: 9,008,165	N2271I	possibly damaging	Het
Amz1	A	G	5: 140,741,551	S90G	probably benign	Het
Arhgap5	A	G	12: 52,517,698	E484G	possibly damaging	Het
Arid3c	A	G	4: 41,729,883		probably null	Het
Atp1a1	T	C	3: 101,589,872	I373V	probably benign	Het
Barhl1	T	C	2: 28,909,887	E242G	probably damaging	Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,321,318		probably benign	Het
Casz1	T	A	4: 148,951,745	V1488E	probably damaging	Het
Ccdc175	C	A	12: 72,136,041	Q401H	probably damaging	Het
Cfap36	T	C	11: 29,225,925	Y191C	probably benign	Het
Chmp2b	G	A	16: 65,545,346	Q119*	probably null	Het
Cps1	T	A	1: 67,197,015	I969N	possibly damaging	Het
Dennd5a	A	G	7: 109,901,159	F920L	probably damaging	Het
Dnah12	A	T	14: 26,872,320	T3410S	probably benign	Het
Fbxo42	T	G	4: 141,200,144	S578R	possibly damaging	Het
Fcgr1	C	T	3: 96,284,299	G398R	not run	Het
Foxa3	A	T	7: 19,014,869	Y111N	probably damaging	Het
Gabbr2	T	C	4: 46,846,340	K190E	probably benign	Het
Gbp10	T	C	5: 105,220,098	Y403C	possibly damaging	Het
Gm906	A	T	13: 50,247,168	I374N	possibly damaging	Het
Hsd3b5	A	G	3: 98,622,074	I80T	probably damaging	Het
Kri1	T	G	9: 21,286,587	Q89P		Het
Lrp6	G	T	6: 134,450,818	P1604T	probably damaging	Het
Metap1	T	C	3: 138,466,137		probably null	Het
Mkrn3	C	T	7: 62,419,782	R87H	probably benign	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Myh6	T	C	14: 54,961,568		probably null	Het
Naip6	G	T	13: 100,316,019	P178Q	probably damaging	Het
Ncapg2	A	G	12: 116,414,834	E160G	probably damaging	Het
Nek6	G	A	2: 38,560,965	A127T	probably damaging	Het
Nell1	T	C	7: 50,279,549	V264A	probably benign	Het
Nlrp2	T	A	7: 5,327,628	I590F	possibly damaging	Het
Olfr1308	A	T	2: 111,960,611	M154K	probably benign	Het
Olfr1310	A	G	2: 112,008,475	L237P	probably damaging	Het
Olfr1390	G	A	11: 49,341,048	R172Q	not run	Het
Olfr503	A	C	7: 108,544,900	D125A	probably damaging	Het
Olfr71	C	T	4: 43,706,080	A163T	probably benign	Het
Otop3	T	A	11: 115,346,378	L556Q	probably damaging	Het
Padi1	T	C	4: 140,829,234	D190G	probably null	Het
Pald1	T	C	10: 61,323,331	S774G	possibly damaging	Het
Pde10a	C	T	17: 8,757,028	T55I	probably benign	Het
Pla2g4d	T	C	2: 120,278,978	M197V	probably benign	Het
Prom1	C	A	5: 44,101,653		probably benign	Het
Ptdss1	A	G	13: 66,963,362	H164R	possibly damaging	Het
Rrh	A	T	3: 129,810,613	I313N	probably damaging	Het
Slc35b4	A	G	6: 34,167,656	I88T	probably damaging	Het
Slc38a11	C	T	2: 65,326,570	V353I	probably benign	Het
Spdef	T	A	17: 27,720,245	E42D	probably benign	Het
Tgoln1	G	C	6: 72,616,278	T73R	probably benign	Het
Tmx1	A	G	12: 70,458,850	D129G	probably benign	Het
Trav13n-4	A	T	14: 53,363,978	Y68F	probably benign	Het
Trp53	T	C	11: 69,589,189	S238P	probably damaging	Het
Trp53bp1	T	C	2: 121,236,469	D592G	probably benign	Het
Ttll5	T	C	12: 85,857,464		probably null	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Vmn2r43	A	T	7: 8,255,307	Y302*	probably null	Het
Vps13d	C	T	4: 145,121,368	V2478I		Het
Zfc3h1	A	G	10: 115,403,300	D539G	probably damaging	Het
Zfp318	T	C	17: 46,411,247	V1392A	probably damaging	Het

Other mutations in Wsb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01760:Wsb1	APN	11	79242041	missense	probably damaging	1.00
IGL02352:Wsb1	APN	11	79251012	missense	probably damaging	1.00
IGL02359:Wsb1	APN	11	79251012	missense	probably damaging	1.00
IGL03218:Wsb1	APN	11	79248498	missense	probably damaging	0.97
R0488:Wsb1	UTSW	11	79244500	missense	probably damaging	1.00
R1051:Wsb1	UTSW	11	79246233	missense	probably damaging	1.00
R1612:Wsb1	UTSW	11	79248585	missense	probably benign	0.31
R2202:Wsb1	UTSW	11	79240386	missense	probably benign
R2449:Wsb1	UTSW	11	79240352	missense	probably benign
R4782:Wsb1	UTSW	11	79240373	missense	probably benign	0.44
R4805:Wsb1	UTSW	11	79240391	missense	possibly damaging	0.95
R4932:Wsb1	UTSW	11	79251000	missense	probably damaging	0.96
R5458:Wsb1	UTSW	11	79248436	missense	probably damaging	1.00
R6032:Wsb1	UTSW	11	79240199	unclassified	probably benign
R6032:Wsb1	UTSW	11	79240199	unclassified	probably benign
R6140:Wsb1	UTSW	11	79241618	missense	probably damaging	0.98
R6192:Wsb1	UTSW	11	79248510	missense	possibly damaging	0.94
R6498:Wsb1	UTSW	11	79248489	missense	probably damaging	1.00
R6545:Wsb1	UTSW	11	79251055	missense	probably damaging	1.00
R6608:Wsb1	UTSW	11	79240362	missense	probably benign	0.30
R7142:Wsb1	UTSW	11	79250988	missense	probably benign	0.01
R7361:Wsb1	UTSW	11	79240797	critical splice acceptor site	probably null
R8338:Wsb1	UTSW	11	79246277	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCCATTCAATATATAGCAGCAGC -3'
(R):5'- TCTACAGCTGTAGGGACATAGGAC -3'

Sequencing Primer
(F):5'- GCAGCAGCTCATGTCTAAATATATAC -3'
(R):5'- CATAGGACAAGTGTAGTTGTGTAACC -3'

Posted On

2019-09-13