Mutagenetix > Incidental Mutation

Incidental Mutation 'R5727:Wscd2'

452553

Institutional Source

Beutler Lab

Gene Symbol

Wscd2

Ensembl Gene

ENSMUSG00000063430

Gene Name

WSC domain containing 2

Synonyms

4933413A10Rik, C530024P05Rik

MMRRC Submission

043190-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5727 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113638199-113727786 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113715411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 417 (F417S)

Ref Sequence

ENSEMBL: ENSMUSP00000092021 (fasta)

Gene Model

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

AlphaFold

D4PHA7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094452
AA Change: F417S

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092021
Gene: ENSMUSG00000063430
AA Change: F417S

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: ENSMUST00000181294

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198673

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	C	A	14: 29,712,838 (GRCm39)	L494M	probably benign	Het
Ahnak	G	T	19: 8,994,111 (GRCm39)	A5132S	probably damaging	Het
Cadps	G	A	14: 12,486,525 (GRCm38)	Q882*	probably null	Het
Cdhr2	G	A	13: 54,872,121 (GRCm39)	V662M	possibly damaging	Het
Cdyl2	T	A	8: 117,309,907 (GRCm39)	I350F	probably damaging	Het
Cfap44	T	G	16: 44,255,805 (GRCm39)	F966V	probably damaging	Het
Cpxm1	G	A	2: 130,232,883 (GRCm39)	R704*	probably null	Het
Dnah11	A	T	12: 118,090,841 (GRCm39)	F1034L	probably damaging	Het
Dpep2	A	G	8: 106,713,075 (GRCm39)	V440A	probably benign	Het
Ehmt2	A	T	17: 35,125,008 (GRCm39)	M11L	possibly damaging	Het
Eml2	C	T	7: 18,924,685 (GRCm39)	H185Y	probably damaging	Het
Gm10845	T	A	14: 80,100,770 (GRCm39)		noncoding transcript	Het
Gm8122	T	G	14: 43,091,477 (GRCm39)	N97T	unknown	Het
Gnb1	A	G	4: 155,639,559 (GRCm39)	T263A	probably benign	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Ier5l	A	G	2: 30,363,171 (GRCm39)	C285R	possibly damaging	Het
Kif21b	A	G	1: 136,097,747 (GRCm39)	N1336D	probably damaging	Het
Kl	A	G	5: 150,915,003 (GRCm39)	N910S	possibly damaging	Het
Lama1	A	G	17: 68,122,219 (GRCm39)	H2722R	possibly damaging	Het
Mdm2	A	G	10: 117,538,212 (GRCm39)	M13T	possibly damaging	Het
Micall1	T	A	15: 79,014,678 (GRCm39)	Y685N	possibly damaging	Het
Mthfd1l	T	G	10: 4,053,302 (GRCm39)	S884A	possibly damaging	Het
Nkiras2	A	G	11: 100,515,853 (GRCm39)	Y60C	probably damaging	Het
Oc90	T	G	15: 65,753,388 (GRCm39)	R342S	possibly damaging	Het
Or11h23	C	A	14: 50,947,817 (GRCm39)	T10K	possibly damaging	Het
Or1j4	T	C	2: 36,740,544 (GRCm39)	L162P	possibly damaging	Het
Or4k35	T	A	2: 111,100,197 (GRCm39)	R172*	probably null	Het
Or4p20	T	A	2: 88,253,791 (GRCm39)	I193F	probably benign	Het
Or9s13	A	G	1: 92,547,900 (GRCm39)	N91D	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Parp9	G	T	16: 35,784,467 (GRCm39)	E507*	probably null	Het
Pex13	A	G	11: 23,605,705 (GRCm39)	I175T	probably benign	Het
Phf12	A	G	11: 77,914,370 (GRCm39)	E604G	probably damaging	Het
Ppfia4	A	T	1: 134,251,815 (GRCm39)		probably null	Het
Rragc	T	C	4: 123,813,828 (GRCm39)	Y141H	possibly damaging	Het
Slc35g3	A	G	11: 69,651,280 (GRCm39)	V257A	probably benign	Het
Snx5	T	C	2: 144,102,674 (GRCm39)	T80A	probably benign	Het
Sorcs2	G	A	5: 36,188,630 (GRCm39)	A826V	possibly damaging	Het
Sptb	G	A	12: 76,669,888 (GRCm39)	A480V	probably benign	Het
Tmem161b	T	A	13: 84,434,909 (GRCm39)	S302R	possibly damaging	Het
Ube2o	A	T	11: 116,430,496 (GRCm39)	F1081I	probably damaging	Het
Vmn2r2	T	C	3: 64,024,608 (GRCm39)	I658V	probably benign	Het
Vwa3b	T	G	1: 37,174,600 (GRCm39)	L672V	probably benign	Het

Other mutations in Wscd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Wscd2	APN	5	113,689,236 (GRCm39)	missense	possibly damaging	0.56
IGL01113:Wscd2	APN	5	113,708,800 (GRCm39)	missense	probably damaging	1.00
IGL01476:Wscd2	APN	5	113,710,382 (GRCm39)	missense	probably damaging	0.99
IGL01894:Wscd2	APN	5	113,710,357 (GRCm39)	missense	probably damaging	0.96
IGL02560:Wscd2	APN	5	113,699,045 (GRCm39)	missense	probably benign	0.01
IGL02755:Wscd2	APN	5	113,712,092 (GRCm39)	missense	possibly damaging	0.66
froggie	UTSW	5	113,726,206 (GRCm39)	makesense	probably null
R0381:Wscd2	UTSW	5	113,689,192 (GRCm39)	missense	probably damaging	0.96
R1144:Wscd2	UTSW	5	113,699,151 (GRCm39)	splice site	probably null
R1858:Wscd2	UTSW	5	113,689,231 (GRCm39)	missense	possibly damaging	0.63
R3695:Wscd2	UTSW	5	113,689,078 (GRCm39)	missense	possibly damaging	0.82
R4231:Wscd2	UTSW	5	113,699,045 (GRCm39)	missense	probably benign	0.00
R4232:Wscd2	UTSW	5	113,699,045 (GRCm39)	missense	probably benign	0.00
R4667:Wscd2	UTSW	5	113,715,333 (GRCm39)	missense	probably damaging	1.00
R4696:Wscd2	UTSW	5	113,689,240 (GRCm39)	missense	probably benign
R6401:Wscd2	UTSW	5	113,726,206 (GRCm39)	makesense	probably null
R7413:Wscd2	UTSW	5	113,715,402 (GRCm39)	missense	probably benign	0.02
R7642:Wscd2	UTSW	5	113,715,475 (GRCm39)	missense	possibly damaging	0.67
R7837:Wscd2	UTSW	5	113,710,394 (GRCm39)	missense	probably damaging	1.00
R8046:Wscd2	UTSW	5	113,689,176 (GRCm39)	missense	probably benign	0.05
R8331:Wscd2	UTSW	5	113,688,996 (GRCm39)	start codon destroyed	probably null	0.99
R8348:Wscd2	UTSW	5	113,710,371 (GRCm39)	missense	possibly damaging	0.89
R8680:Wscd2	UTSW	5	113,712,235 (GRCm39)	missense	probably damaging	1.00
R8928:Wscd2	UTSW	5	113,715,401 (GRCm39)	missense	possibly damaging	0.90
R9125:Wscd2	UTSW	5	113,715,417 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- GCTCAGAATACACACTGGAAGG -3'
(R):5'- AGAACTGCTGCTTTGCACAG -3'

Sequencing Primer
(F):5'- TGAGGAAGCACAAGGTGGTG -3'
(R):5'- TGCTTTGCACAGCTCTCTTAAGAG -3'

Posted On

2017-01-03