Mutagenetix > Incidental Mutation

Incidental Mutation 'R7875:Wscd1'

608396

Institutional Source

Beutler Lab

Gene Symbol

Wscd1

Ensembl Gene

ENSMUSG00000020811

Gene Name

WSC domain containing 1

Synonyms

MMRRC Submission

045927-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7875 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71640746-71680473 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71679560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 478 (Y478N)

Ref Sequence

ENSEMBL: ENSMUSP00000021168 (fasta)

Gene Model

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

AlphaFold

Q80XH4

Predicted Effect

probably damaging
Transcript: ENSMUST00000021168
AA Change: Y478N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021168
Gene: ENSMUSG00000020811
AA Change: Y478N

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 damaging
Transcript: ENSMUST00000108510
AA Change: Y478N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104150
Gene: ENSMUSG00000020811
AA Change: Y478N

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 damaging
Transcript: ENSMUST00000108511
AA Change: Y478N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104151
Gene: ENSMUSG00000020811
AA Change: Y478N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	T	16: 30,958,459 (GRCm39)	F102I	probably damaging	Het
Acp7	A	T	7: 28,314,152 (GRCm39)	Y348N	probably damaging	Het
Adgre4	A	T	17: 56,099,016 (GRCm39)	D174V	probably benign	Het
Ahdc1	A	G	4: 132,791,161 (GRCm39)	T801A	possibly damaging	Het
Aldh1a7	A	C	19: 20,693,343 (GRCm39)	V192G	possibly damaging	Het
Anp32b	T	G	4: 46,451,301 (GRCm39)	D2E	probably benign	Het
Arhgef11	A	T	3: 87,591,808 (GRCm39)	D53V	probably damaging	Het
Arid5b	T	C	10: 67,964,771 (GRCm39)	N300S	probably benign	Het
Ascc2	A	G	11: 4,618,389 (GRCm39)	N328S	probably benign	Het
Aspm	A	T	1: 139,382,872 (GRCm39)	Q68L	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ccser1	A	T	6: 61,288,932 (GRCm39)	H365L	probably benign	Het
Col1a2	T	A	6: 4,518,500 (GRCm39)	N213K	unknown	Het
Col7a1	T	C	9: 108,787,763 (GRCm39)	V681A	unknown	Het
Cplane1	A	G	15: 8,239,446 (GRCm39)	I1216V	probably benign	Het
Dock9	A	T	14: 121,863,396 (GRCm39)	Y792*	probably null	Het
Fam241b	A	T	10: 61,970,271 (GRCm39)	S10R		Het
Gab1	C	T	8: 81,515,395 (GRCm39)	D308N	probably damaging	Het
Gdf11	C	T	10: 128,722,210 (GRCm39)	R215H	probably benign	Het
Gpc1	T	C	1: 92,782,970 (GRCm39)		probably null	Het
Hnf4a	G	T	2: 163,400,980 (GRCm39)	E200*	probably null	Het
Ints2	T	C	11: 86,103,888 (GRCm39)	T1086A	probably damaging	Het
Kbtbd7	A	G	14: 79,664,806 (GRCm39)	T213A	probably benign	Het
Kcnt2	A	G	1: 140,501,385 (GRCm39)	D917G	probably damaging	Het
Kdm5a	C	A	6: 120,375,979 (GRCm39)	Y578*	probably null	Het
Lrrtm4	A	T	6: 79,999,343 (GRCm39)	T252S	possibly damaging	Het
Mamdc4	C	T	2: 25,458,677 (GRCm39)	W305*	probably null	Het
Mzb1	A	G	18: 35,780,913 (GRCm39)	I125T	possibly damaging	Het
Nfrkb	A	G	9: 31,321,450 (GRCm39)	T716A	possibly damaging	Het
Or2ad1	T	A	13: 21,327,093 (GRCm39)	I45F	probably damaging	Het
Or4f6	A	G	2: 111,839,192 (GRCm39)	V113A	probably benign	Het
Or52r1b	A	G	7: 102,691,060 (GRCm39)	M120V	probably damaging	Het
Or8k16	G	A	2: 85,519,838 (GRCm39)	E22K	probably benign	Het
Plcxd2	G	A	16: 45,830,065 (GRCm39)	A52V	possibly damaging	Het
Poteg	C	T	8: 27,939,942 (GRCm39)	P95L	probably benign	Het
Prdm9	A	T	17: 15,773,804 (GRCm39)	Y322*	probably null	Het
Rab11fip2	G	C	19: 59,925,655 (GRCm39)	I187M	possibly damaging	Het
Ranbp2	G	T	10: 58,314,277 (GRCm39)	E1666*	probably null	Het
Rin3	T	C	12: 102,335,735 (GRCm39)	S549P	probably damaging	Het
Scn10a	C	T	9: 119,464,508 (GRCm39)		probably null	Het
Scn3a	A	G	2: 65,327,826 (GRCm39)	F888S	probably damaging	Het
Sik3	T	A	9: 46,034,528 (GRCm39)	I96N	probably damaging	Het
Slc12a7	T	A	13: 73,936,723 (GRCm39)	C128S	possibly damaging	Het
Spata31h1	T	C	10: 82,123,456 (GRCm39)	S3185G	possibly damaging	Het
Syde2	A	G	3: 145,726,020 (GRCm39)	E1304G	probably damaging	Het
Tagln	T	C	9: 45,841,680 (GRCm39)	I199V	probably damaging	Het
Tars3	T	A	7: 65,327,899 (GRCm39)	V536E	probably benign	Het
Tas2r140	A	G	6: 40,469,097 (GRCm39)	K309R	probably damaging	Het
Thra	A	T	11: 98,659,257 (GRCm39)	D462V	probably damaging	Het
Topaz1	A	G	9: 122,578,652 (GRCm39)	T521A	possibly damaging	Het
Uhrf1	A	G	17: 56,619,884 (GRCm39)	N265S	possibly damaging	Het
Upk3b	A	T	5: 136,069,057 (GRCm39)	Y142F	probably benign	Het
Vmn1r219	T	C	13: 23,347,363 (GRCm39)	V184A	possibly damaging	Het
Vmn1r58	T	C	7: 5,413,753 (GRCm39)	D159G	probably damaging	Het
Vnn3	C	A	10: 23,743,146 (GRCm39)	A452D	possibly damaging	Het
Xrcc5	C	T	1: 72,369,090 (GRCm39)	R315C	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	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
R1340:Wscd1	UTSW	11	71,659,586 (GRCm39)	missense	probably benign	0.01
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
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'- GGATTCCCAAATGGATCAGCCG -3'
(R):5'- TCAAGTCCTTCATCTCAGGGG -3'

Sequencing Primer
(F):5'- GTGGGCAGTGAGACGTTCTAAAAC -3'
(R):5'- CAAGTCCTTCATCTCAGGGGTGAAG -3'

Posted On

2019-12-20