Mutagenetix > Incidental Mutation

Incidental Mutation 'R7142:Wsb1'

553487

Institutional Source

Beutler Lab

Gene Symbol

Wsb1

Ensembl Gene

ENSMUSG00000017677

Gene Name

WD repeat and SOCS box-containing 1

Synonyms

2700038M07Rik, 1110056B13Rik

MMRRC Submission

045250-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.406) question?

Stock #

R7142 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79130198-79145497 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79141814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 68 (K68E)

Ref Sequence

ENSEMBL: ENSMUSP00000017821 (fasta)

Gene Model

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

AlphaFold

O54927

Predicted Effect

probably benign
Transcript: ENSMUST00000017821
AA Change: K68E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000017821
Gene: ENSMUSG00000017677
AA Change: K68E

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
AA Change: K68E

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128181
Gene: ENSMUSG00000017677
AA Change: K68E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145772
AA Change: K68E

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000137999
Gene: ENSMUSG00000017677
AA Change: K68E

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

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

Validation Efficiency

98% (63/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	A	10: 78,903,446 (GRCm39)	H290L	probably damaging	Het
Abca1	T	A	4: 53,082,050 (GRCm39)	S737C	probably damaging	Het
Abca14	G	C	7: 119,850,406 (GRCm39)	V753L	possibly damaging	Het
Adgrl1	C	T	8: 84,663,829 (GRCm39)	H1099Y	probably benign	Het
Akap6	T	G	12: 52,934,147 (GRCm39)	D546E	probably benign	Het
Aldh1l1	G	A	6: 90,540,398 (GRCm39)	D228N	probably damaging	Het
Cacna1e	G	T	1: 154,288,230 (GRCm39)	Q1883K	probably damaging	Het
Caskin2	A	G	11: 115,697,562 (GRCm39)	Y125H	probably benign	Het
Ccdc85a	A	T	11: 28,527,192 (GRCm39)	Y139N	probably damaging	Het
Cd93	C	T	2: 148,283,725 (GRCm39)	W540*	probably null	Het
Cdh3	G	A	8: 107,271,860 (GRCm39)		probably null	Het
Chmp2b	G	A	16: 65,343,794 (GRCm39)	Q88*	probably null	Het
Cpt1a	T	C	19: 3,425,100 (GRCm39)	M489T	probably benign	Het
Ctsk	G	A	3: 95,414,259 (GRCm39)	V274M	possibly damaging	Het
Cyp3a44	A	G	5: 145,714,771 (GRCm39)	V460A	probably benign	Het
Cypt4	C	T	9: 24,536,740 (GRCm39)	R77*	probably null	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dnah7a	A	T	1: 53,452,927 (GRCm39)	Y3850*	probably null	Het
Drosha	A	T	15: 12,924,232 (GRCm39)	T1205S	possibly damaging	Het
Eif3j2	T	C	18: 43,610,465 (GRCm39)	E116G	probably damaging	Het
Ercc5	A	G	1: 44,213,374 (GRCm39)	E790G	probably damaging	Het
Fam163b	C	T	2: 27,003,567 (GRCm39)	R29Q	probably damaging	Het
Fbxo44	C	T	4: 148,243,269 (GRCm39)	G50E	unknown	Het
Foxo3	T	C	10: 42,150,591 (GRCm39)		probably null	Het
Gnal	C	T	18: 67,351,599 (GRCm39)	P386L	probably damaging	Het
Gpc5	T	A	14: 115,654,615 (GRCm39)	H478Q	probably benign	Het
Grhl2	A	T	15: 37,279,826 (GRCm39)	D178V	probably benign	Het
Gtf2i	C	A	5: 134,273,705 (GRCm39)	V755L	possibly damaging	Het
Hal	T	C	10: 93,336,513 (GRCm39)	V414A	possibly damaging	Het
Hmx2	T	C	7: 131,157,465 (GRCm39)	V193A	probably damaging	Het
Il17a	T	A	1: 20,802,327 (GRCm39)	M12K	probably benign	Het
Invs	T	A	4: 48,407,696 (GRCm39)	I557N	probably damaging	Het
Kng1	T	A	16: 22,898,170 (GRCm39)	H523Q	probably benign	Het
Lrp4	T	A	2: 91,325,339 (GRCm39)	I1388N	probably damaging	Het
Mboat4	A	G	8: 34,587,291 (GRCm39)	I63V	probably benign	Het
Mcoln2	G	A	3: 145,889,324 (GRCm39)		probably null	Het
Mgat5	A	T	1: 127,339,924 (GRCm39)	D435V	probably damaging	Het
Mri1	C	A	8: 84,983,753 (GRCm39)	R46L	probably damaging	Het
Mxra8	A	T	4: 155,927,519 (GRCm39)	Y409F	probably benign	Het
Nlrp1b	T	A	11: 71,062,901 (GRCm39)	R720*	probably null	Het
Ofcc1	T	C	13: 40,157,538 (GRCm39)	I887V	probably benign	Het
Or5l13	T	C	2: 87,780,056 (GRCm39)	I174V	probably benign	Het
Otud4	T	A	8: 80,399,391 (GRCm39)		probably null	Het
P3h1	T	A	4: 119,104,358 (GRCm39)	D626E	probably benign	Het
Pde2a	A	T	7: 101,153,857 (GRCm39)	D485V	probably damaging	Het
Phldb2	G	A	16: 45,577,539 (GRCm39)	R1129*	probably null	Het
Pkn1	T	C	8: 84,420,596 (GRCm39)	E10G	possibly damaging	Het
Psd2	A	G	18: 36,113,097 (GRCm39)	D264G	possibly damaging	Het
Psg29	A	G	7: 16,944,546 (GRCm39)	D352G	probably damaging	Het
Rgs14	T	C	13: 55,527,417 (GRCm39)	S218P	probably damaging	Het
Sec14l2	T	C	11: 4,048,379 (GRCm39)	T380A	probably benign	Het
Septin12	T	C	16: 4,806,226 (GRCm39)	T312A	unknown	Het
Skint5	A	T	4: 113,428,791 (GRCm39)	V1075E	unknown	Het
Ston2	A	G	12: 91,614,009 (GRCm39)	S800P	probably damaging	Het
Tmem106b	A	G	6: 13,081,564 (GRCm39)	N157S	probably damaging	Het
Tmem132b	G	A	5: 125,699,737 (GRCm39)	G133S	probably damaging	Het
Tmie	A	T	9: 110,699,749 (GRCm39)	M55K	possibly damaging	Het
Trpc6	A	T	9: 8,653,017 (GRCm39)	R608*	probably null	Het
Unc93a2	G	A	17: 7,644,021 (GRCm39)	T96I	probably damaging	Het
Usp35	A	G	7: 96,960,754 (GRCm39)	S891P	probably damaging	Het
Vmn1r178	A	G	7: 23,593,035 (GRCm39)	T28A	probably damaging	Het
Wnk1	T	A	6: 119,926,240 (GRCm39)	M1324L	probably benign	Het
Wrnip1	C	A	13: 32,986,616 (GRCm39)	S132R	possibly damaging	Het
Zfp433	A	T	10: 81,556,040 (GRCm39)	K181*	probably null	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
R5458:Wsb1	UTSW	11	79,139,262 (GRCm39)	missense	probably damaging	1.00
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
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'- CAAACAAGCTTCTAACACTGGCTG -3'
(R):5'- CTTTGTCTGTTTCAGTGAGATCAC -3'

Sequencing Primer
(F):5'- GCCCATTGGATACGCAGACTTTG -3'
(R):5'- CACGTACTATAGGGGAACTCTTGGC -3'

Posted On

2019-05-15