Mutagenetix > Incidental Mutation

Incidental Mutation 'R1340:Wscd1'

157012

Institutional Source

Beutler Lab

Gene Symbol

Wscd1

Ensembl Gene

ENSMUSG00000020811

Gene Name

WSC domain containing 1

Synonyms

MMRRC Submission

039405-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1340 (G1)

Quality Score

210

Status

Validated

Chromosome

Chromosomal Location

71640746-71680473 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71659586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 222 (V222A)

Ref Sequence

ENSEMBL: ENSMUSP00000104151 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021168] [ENSMUST00000108510] [ENSMUST00000108511]

AlphaFold

Q80XH4

Predicted Effect

probably benign
Transcript: ENSMUST00000021168
AA Change: V222A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000021168
Gene: ENSMUSG00000020811
AA Change: V222A

Domain	Start	End	E-Value	Type
transmembrane domain	17	36	N/A	INTRINSIC
low complexity region	100	114	N/A	INTRINSIC
WSC	139	231	8.72e-40	SMART
WSC	242	337	2.09e-28	SMART
Pfam:Sulfotransfer_1	413	525	1.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108510
AA Change: V222A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000104150
Gene: ENSMUSG00000020811
AA Change: V222A

Domain	Start	End	E-Value	Type
transmembrane domain	17	36	N/A	INTRINSIC
low complexity region	100	114	N/A	INTRINSIC
WSC	139	231	8.72e-40	SMART
WSC	242	337	2.09e-28	SMART
Pfam:Sulfotransfer_1	413	525	1.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108511
AA Change: V222A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000104151
Gene: ENSMUSG00000020811
AA Change: V222A

Domain	Start	End	E-Value	Type
transmembrane domain	17	36	N/A	INTRINSIC
low complexity region	100	114	N/A	INTRINSIC
WSC	139	231	8.72e-40	SMART
WSC	242	337	2.09e-28	SMART
Pfam:Sulfotransfer_1	413	525	1.6e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132095

Meta Mutation Damage Score

0.0676

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.4%
20x: 89.9%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,628,581 (GRCm39)		probably benign	Het
Acat3	C	T	17: 13,148,564 (GRCm39)		probably benign	Het
Actn1	T	C	12: 80,219,918 (GRCm39)		probably null	Het
Adam8	G	A	7: 139,571,290 (GRCm39)	S38F	probably damaging	Het
Aldh9a1	T	G	1: 167,184,913 (GRCm39)	I275S	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Alms1	G	A	6: 85,644,939 (GRCm39)		probably null	Het
Bltp3a	A	G	17: 28,113,695 (GRCm39)	N1289S	probably benign	Het
Cacna1d	A	G	14: 29,794,024 (GRCm39)	V1539A	probably damaging	Het
Cacna1e	A	G	1: 154,348,403 (GRCm39)	L724P	probably damaging	Het
Ccdc110	A	G	8: 46,395,218 (GRCm39)	T370A	probably benign	Het
Ccdc9	G	A	7: 16,009,315 (GRCm39)		probably benign	Het
Cep120	A	T	18: 53,857,463 (GRCm39)	V334E	probably damaging	Het
Ces3a	C	T	8: 105,784,545 (GRCm39)	P462L	probably damaging	Het
Cgref1	A	G	5: 31,102,690 (GRCm39)		probably benign	Het
Cndp1	G	A	18: 84,652,777 (GRCm39)		probably benign	Het
Csrnp3	T	A	2: 65,832,740 (GRCm39)	F81Y	probably damaging	Het
Ddr2	T	C	1: 169,825,653 (GRCm39)	T316A	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Epb41l5	A	T	1: 119,476,861 (GRCm39)	*740R	probably null	Het
Gfpt2	A	G	11: 49,723,688 (GRCm39)	K559E	probably damaging	Het
Gm2381	A	G	7: 42,469,828 (GRCm39)	Y99H	possibly damaging	Het
Gsdma2	T	C	11: 98,548,475 (GRCm39)	V242A	probably damaging	Het
Lrp1b	T	C	2: 40,592,806 (GRCm39)	N3771S	probably benign	Het
Lrriq4	A	C	3: 30,704,472 (GRCm39)	T167P	possibly damaging	Het
Mtarc2	T	C	1: 184,554,744 (GRCm39)	T254A	probably benign	Het
Naip2	G	A	13: 100,325,630 (GRCm39)	L93F	possibly damaging	Het
Nefh	G	GNNNNNNNNNNNNNNNNNN	11: 4,891,002 (GRCm39)		probably benign	Het
Nrp1	T	C	8: 129,160,836 (GRCm39)	S321P	probably damaging	Het
Nt5c1b	T	C	12: 10,427,276 (GRCm39)	V342A	probably damaging	Het
Nt5c3	A	G	6: 56,860,018 (GRCm39)	M273T	probably benign	Het
Or12j2	A	G	7: 139,916,038 (GRCm39)	T88A	probably benign	Het
Or1l4b	T	G	2: 37,036,769 (GRCm39)	L182V	probably benign	Het
Or6b1	G	A	6: 42,814,943 (GRCm39)	V43M	probably benign	Het
Polr3f	A	G	2: 144,380,548 (GRCm39)	H297R	probably benign	Het
Ptgs2	T	G	1: 149,981,228 (GRCm39)	F504V	probably damaging	Het
Ptpro	C	T	6: 137,418,079 (GRCm39)	P142L	possibly damaging	Het
Rps17	A	G	7: 80,993,481 (GRCm39)		probably null	Het
Ryr1	A	G	7: 28,815,437 (GRCm39)	S132P	probably damaging	Het
Sacs	T	C	14: 61,441,958 (GRCm39)	S1335P	probably damaging	Het
Senp6	T	C	9: 80,029,305 (GRCm39)	V383A	possibly damaging	Het
Skint7	T	C	4: 111,837,416 (GRCm39)	F65L	probably damaging	Het
Slc35f1	T	C	10: 52,965,550 (GRCm39)	Y322H	probably damaging	Het
Slc38a4	C	A	15: 96,908,153 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sox15	T	A	11: 69,546,373 (GRCm39)	S59T	probably damaging	Het
Srcap	T	A	7: 127,159,910 (GRCm39)		probably benign	Het
Txlnb	A	T	10: 17,718,488 (GRCm39)	I440F	probably damaging	Het
Vmn1r178	A	G	7: 23,593,281 (GRCm39)	S37G	probably benign	Het
Vmn2r75	T	C	7: 85,797,798 (GRCm39)	T672A	probably damaging	Het

Other mutations in Wscd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00980:Wscd1	APN	11	71,679,768 (GRCm39)	missense	possibly damaging	0.89
IGL01982:Wscd1	APN	11	71,657,699 (GRCm39)	missense	possibly damaging	0.94
IGL01991:Wscd1	APN	11	71,678,549 (GRCm39)	nonsense	probably null
IGL02211:Wscd1	APN	11	71,679,801 (GRCm39)	missense	probably damaging	1.00
R0011:Wscd1	UTSW	11	71,679,654 (GRCm39)	missense	probably damaging	1.00
R0011:Wscd1	UTSW	11	71,679,654 (GRCm39)	missense	probably damaging	1.00
R0359:Wscd1	UTSW	11	71,657,692 (GRCm39)	missense	probably damaging	1.00
R0371:Wscd1	UTSW	11	71,679,549 (GRCm39)	missense	probably damaging	1.00
R1429:Wscd1	UTSW	11	71,651,000 (GRCm39)	missense	probably damaging	0.99
R1511:Wscd1	UTSW	11	71,679,501 (GRCm39)	missense	probably damaging	1.00
R1823:Wscd1	UTSW	11	71,651,044 (GRCm39)	missense	probably benign	0.05
R4772:Wscd1	UTSW	11	71,662,802 (GRCm39)	critical splice donor site	probably null
R4885:Wscd1	UTSW	11	71,650,972 (GRCm39)	missense	probably damaging	1.00
R5221:Wscd1	UTSW	11	71,659,501 (GRCm39)	missense	possibly damaging	0.53
R5714:Wscd1	UTSW	11	71,675,261 (GRCm39)	critical splice donor site	probably null
R6351:Wscd1	UTSW	11	71,650,709 (GRCm39)	missense	probably damaging	1.00
R7181:Wscd1	UTSW	11	71,650,709 (GRCm39)	missense	probably damaging	1.00
R7184:Wscd1	UTSW	11	71,679,543 (GRCm39)	missense	probably damaging	1.00
R7461:Wscd1	UTSW	11	71,650,799 (GRCm39)	missense	possibly damaging	0.95
R7613:Wscd1	UTSW	11	71,650,799 (GRCm39)	missense	possibly damaging	0.95
R7754:Wscd1	UTSW	11	71,675,191 (GRCm39)	missense	probably damaging	1.00
R7875:Wscd1	UTSW	11	71,679,560 (GRCm39)	missense	probably damaging	1.00
R8804:Wscd1	UTSW	11	71,675,161 (GRCm39)	missense	probably damaging	1.00
R9103:Wscd1	UTSW	11	71,674,245 (GRCm39)	critical splice donor site	probably null
R9220:Wscd1	UTSW	11	71,662,750 (GRCm39)	missense	probably benign	0.01
R9359:Wscd1	UTSW	11	71,650,799 (GRCm39)	missense	possibly damaging	0.95
R9473:Wscd1	UTSW	11	71,679,644 (GRCm39)	missense	probably damaging	1.00
Z1177:Wscd1	UTSW	11	71,679,811 (GRCm39)	missense	probably damaging	0.98
Z1177:Wscd1	UTSW	11	71,679,626 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACCTTTAACTCTGGATGGAGCCCG -3'
(R):5'- TAGGTTTGGATGGCCCCTACTCTC -3'

Sequencing Primer
(F):5'- aaacacccccccccaac -3'
(R):5'- GATGGCCCCTACTCTCTATCTG -3'

Posted On

2014-02-11