Mutagenetix > Incidental Mutation

Incidental Mutation 'R5458:Wsb1'

432890

Institutional Source

Beutler Lab

Gene Symbol

Wsb1

Ensembl Gene

ENSMUSG00000017677

Gene Name

WD repeat and SOCS box-containing 1

Synonyms

2700038M07Rik, 1110056B13Rik

MMRRC Submission

043021-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.447) question?

Stock #

R5458 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79130198-79145497 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79139262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 75 (T75A)

Gene Model

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

AlphaFold

O54927

Predicted Effect

probably damaging
Transcript: ENSMUST00000017821
AA Change: T145A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000017821
Gene: ENSMUSG00000017677
AA Change: T145A

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 damaging
Transcript: ENSMUST00000131818
AA Change: T75A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131290
Gene: ENSMUSG00000017677
AA Change: T75A

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

noncoding transcript
Transcript: ENSMUST00000137890

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

Meta Mutation Damage Score

0.1978

Coding Region Coverage

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

Validation Efficiency

98% (54/55)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	A	G	6: 125,027,013 (GRCm39)		probably benign	Het
Acsl5	A	G	19: 55,282,662 (GRCm39)	D589G	probably damaging	Het
Akap13	T	A	7: 75,236,049 (GRCm39)	L208Q	probably damaging	Het
Ankfn1	C	T	11: 89,325,636 (GRCm39)	R512K	probably benign	Het
Ankhd1	T	C	18: 36,781,538 (GRCm39)	S2197P	probably benign	Het
Ankrd27	A	G	7: 35,291,236 (GRCm39)	N11D	probably damaging	Het
Aspg	T	C	12: 112,086,436 (GRCm39)	V230A	probably damaging	Het
Atp2c1	A	T	9: 105,291,924 (GRCm39)	Y709*	probably null	Het
Atp8b2	T	C	3: 89,853,329 (GRCm39)	N748D	probably benign	Het
B4galnt3	A	G	6: 120,187,346 (GRCm39)	V684A	probably damaging	Het
Bco2	T	C	9: 50,456,644 (GRCm39)		probably null	Het
Bcr	T	C	10: 74,990,792 (GRCm39)	V766A	probably benign	Het
Brca1	T	C	11: 101,408,111 (GRCm39)	N1404S	possibly damaging	Het
Cfap251	A	G	5: 123,392,508 (GRCm39)		probably benign	Het
Chd1	A	G	17: 15,958,811 (GRCm39)	D621G	probably damaging	Het
Chek1	A	G	9: 36,625,725 (GRCm39)	S307P	probably benign	Het
Dhx29	T	C	13: 113,103,155 (GRCm39)	M1345T	probably benign	Het
Dnah6	T	A	6: 73,063,168 (GRCm39)	T2697S	probably damaging	Het
Ephb4	T	C	5: 137,368,114 (GRCm39)	V753A	probably damaging	Het
Fat1	T	C	8: 45,466,090 (GRCm39)	Y1427H	probably damaging	Het
Fggy	A	G	4: 95,814,980 (GRCm39)	Q445R	probably benign	Het
Fv1	A	G	4: 147,954,726 (GRCm39)	S431G	probably benign	Het
Gm5965	A	T	16: 88,575,395 (GRCm39)	R189S	probably benign	Het
Gnas	A	G	2: 174,140,124 (GRCm39)	I98V	probably benign	Het
Ino80	T	C	2: 119,242,910 (GRCm39)	N1086D	possibly damaging	Het
Lclat1	T	C	17: 73,546,914 (GRCm39)	L277P	probably damaging	Het
Lipc	T	C	9: 70,759,864 (GRCm39)		probably benign	Het
Myo3a	T	C	2: 22,250,361 (GRCm39)	I76T	probably damaging	Het
Nkpd1	C	A	7: 19,258,201 (GRCm39)	A510E	probably damaging	Het
Nlgn2	G	T	11: 69,718,726 (GRCm39)	Q285K	possibly damaging	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Pax5	T	C	4: 44,679,526 (GRCm39)	D172G	probably damaging	Het
Pcdh15	T	A	10: 74,340,611 (GRCm39)	V1115D	probably damaging	Het
Pdzd7	T	C	19: 45,016,230 (GRCm39)	S964G	probably benign	Het
Phip	G	T	9: 82,808,553 (GRCm39)	P474Q	probably benign	Het
Pop5	C	T	5: 115,378,496 (GRCm39)		probably benign	Het
Ppfibp1	A	T	6: 146,913,933 (GRCm39)		probably benign	Het
Rdh11	C	T	12: 79,235,279 (GRCm39)	A106T	probably benign	Het
Rin3	A	G	12: 102,339,975 (GRCm39)	T642A	probably damaging	Het
Scmh1	C	T	4: 120,362,478 (GRCm39)		probably benign	Het
Skint2	A	G	4: 112,481,377 (GRCm39)	H80R	possibly damaging	Het
Spata16	A	T	3: 26,831,686 (GRCm39)	N265I	probably damaging	Het
Srpk1	T	C	17: 28,818,446 (GRCm39)		probably null	Het
Tcaf1	T	C	6: 42,663,476 (GRCm39)	T135A	probably benign	Het
Trappc12	A	G	12: 28,796,389 (GRCm39)	V381A	probably damaging	Het
Trim33	T	A	3: 103,237,496 (GRCm39)	I184K	possibly damaging	Het
Unc13a	C	T	8: 72,116,889 (GRCm39)	V62M	probably damaging	Het
Vrk2	A	G	11: 26,448,919 (GRCm39)	V225A	probably damaging	Het
Wdr95	C	T	5: 149,487,879 (GRCm39)	P171L	probably damaging	Het

Other mutations in Wsb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01760:Wsb1	APN	11	79,132,867 (GRCm39)	missense	probably damaging	1.00
IGL02352:Wsb1	APN	11	79,141,838 (GRCm39)	missense	probably damaging	1.00
IGL02359:Wsb1	APN	11	79,141,838 (GRCm39)	missense	probably damaging	1.00
IGL03218:Wsb1	APN	11	79,139,324 (GRCm39)	missense	probably damaging	0.97
R0488:Wsb1	UTSW	11	79,135,326 (GRCm39)	missense	probably damaging	1.00
R1051:Wsb1	UTSW	11	79,137,059 (GRCm39)	missense	probably damaging	1.00
R1612:Wsb1	UTSW	11	79,139,411 (GRCm39)	missense	probably benign	0.31
R2202:Wsb1	UTSW	11	79,131,212 (GRCm39)	missense	probably benign
R2449:Wsb1	UTSW	11	79,131,178 (GRCm39)	missense	probably benign
R4782:Wsb1	UTSW	11	79,131,199 (GRCm39)	missense	probably benign	0.44
R4805:Wsb1	UTSW	11	79,131,217 (GRCm39)	missense	possibly damaging	0.95
R4932:Wsb1	UTSW	11	79,141,826 (GRCm39)	missense	probably damaging	0.96
R6032:Wsb1	UTSW	11	79,131,025 (GRCm39)	unclassified	probably benign
R6032:Wsb1	UTSW	11	79,131,025 (GRCm39)	unclassified	probably benign
R6140:Wsb1	UTSW	11	79,132,444 (GRCm39)	missense	probably damaging	0.98
R6192:Wsb1	UTSW	11	79,139,336 (GRCm39)	missense	possibly damaging	0.94
R6498:Wsb1	UTSW	11	79,139,315 (GRCm39)	missense	probably damaging	1.00
R6545:Wsb1	UTSW	11	79,141,881 (GRCm39)	missense	probably damaging	1.00
R6608:Wsb1	UTSW	11	79,131,188 (GRCm39)	missense	probably benign	0.30
R7142:Wsb1	UTSW	11	79,141,814 (GRCm39)	missense	probably benign	0.01
R7339:Wsb1	UTSW	11	79,131,184 (GRCm39)	missense	probably damaging	0.97
R7361:Wsb1	UTSW	11	79,131,623 (GRCm39)	critical splice acceptor site	probably null
R8338:Wsb1	UTSW	11	79,137,103 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGTAAGACATTTTGCTGAGTCAG -3'
(R):5'- CAAGCTGTCTAAAATTGGCAAGAC -3'

Sequencing Primer
(F):5'- TAAGACCCAAACCTGCTTTGC -3'
(R):5'- GCTGTCTAAAATTGGCAAGACAAAAC -3'

Posted On

2016-10-06