Mutagenetix > Incidental Mutation

Incidental Mutation 'R7754:Wscd1'

597455

Institutional Source

Beutler Lab

Gene Symbol

Wscd1

Ensembl Gene

ENSMUSG00000020811

Gene Name

WSC domain containing 1

Synonyms

MMRRC Submission

045810-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7754 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71640746-71680473 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71675191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 366 (H366R)

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: H366R

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

SMART Domains

Protein: ENSMUSP00000021168
Gene: ENSMUSG00000020811
AA Change: H366R

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: H366R

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

SMART Domains

Protein: ENSMUSP00000104150
Gene: ENSMUSG00000020811
AA Change: H366R

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: H366R

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

SMART Domains

Protein: ENSMUSP00000104151
Gene: ENSMUSG00000020811
AA Change: H366R

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: 98.9%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	A	T	4: 88,786,496 (GRCm39)	W41R	unknown	Het
Aatf	G	A	11: 84,402,335 (GRCm39)	S117L	possibly damaging	Het
Abca12	C	A	1: 71,342,046 (GRCm39)	V972L	probably benign	Het
Abcb11	T	A	2: 69,117,162 (GRCm39)	R495S	probably damaging	Het
Acss2	T	A	2: 155,403,086 (GRCm39)	H621Q	probably benign	Het
Akap9	T	C	5: 4,096,736 (GRCm39)	L2537P	probably benign	Het
Apbb1	C	T	7: 105,208,509 (GRCm39)	A597T	probably damaging	Het
Cacna1d	A	T	14: 29,797,809 (GRCm39)	I1448N	probably damaging	Het
Cacna1e	C	T	1: 154,288,863 (GRCm39)	E1841K	probably damaging	Het
Ccdc162	G	T	10: 41,463,371 (GRCm39)	P1457Q	probably damaging	Het
Cep70	A	G	9: 99,163,145 (GRCm39)	K331E	probably damaging	Het
Cplane1	C	A	15: 8,273,310 (GRCm39)	Q2534K	possibly damaging	Het
Cstpp1	A	T	2: 91,135,188 (GRCm39)		probably null	Het
D430041D05Rik	A	T	2: 104,087,504 (GRCm39)	Y491N	probably benign	Het
Dnah6	T	C	6: 73,002,703 (GRCm39)	I3898V	probably benign	Het
Drd2	A	G	9: 49,316,277 (GRCm39)	T346A	probably benign	Het
Efcab9	T	C	11: 32,472,941 (GRCm39)	T169A	possibly damaging	Het
Fam163a	A	T	1: 155,955,729 (GRCm39)	I21N	probably damaging	Het
Fam171a2	C	T	11: 102,329,389 (GRCm39)	D457N	probably benign	Het
Fbn1	A	T	2: 125,321,200 (GRCm39)		probably null	Het
Gpr37	A	T	6: 25,689,049 (GRCm39)	L16H	probably damaging	Het
Gtf3c2	T	C	5: 31,330,175 (GRCm39)	D265G	probably benign	Het
Idh1	G	T	1: 65,198,649 (GRCm39)	A407D	probably benign	Het
Ifna12	A	G	4: 88,521,415 (GRCm39)	M44T	probably damaging	Het
Il22ra1	A	G	4: 135,461,561 (GRCm39)	M109V	probably benign	Het
Jag2	A	T	12: 112,879,089 (GRCm39)		probably null	Het
Lca5l	T	C	16: 95,960,761 (GRCm39)	D572G	unknown	Het
Lcn11	G	A	2: 25,667,830 (GRCm39)	V73I	probably benign	Het
Lrba	A	G	3: 86,352,704 (GRCm39)	T1951A	probably damaging	Het
Ltbp2	A	G	12: 84,860,012 (GRCm39)		probably null	Het
Malrd1	G	A	2: 15,802,610 (GRCm39)		probably null	Het
Morc2b	C	A	17: 33,356,218 (GRCm39)	G518V	probably benign	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Myo5b	A	T	18: 74,767,630 (GRCm39)	T313S	probably benign	Het
Neto2	C	A	8: 86,396,329 (GRCm39)	L140F	probably damaging	Het
Nlgn1	C	T	3: 25,488,467 (GRCm39)	V623I	probably damaging	Het
Optc	A	G	1: 133,834,730 (GRCm39)	S15P	possibly damaging	Het
Or1e25	C	T	11: 73,494,332 (GRCm39)	Q309*	probably null	Het
Or1l4b	A	G	2: 37,036,858 (GRCm39)	I211M	possibly damaging	Het
Or52e19b	C	A	7: 103,032,945 (GRCm39)	W88L	probably damaging	Het
Or7c19	T	A	8: 85,957,427 (GRCm39)	M101K	possibly damaging	Het
Or9k2	T	G	10: 129,998,698 (GRCm39)	T166P	probably damaging	Het
Otogl	A	G	10: 107,705,407 (GRCm39)	V640A	probably damaging	Het
Pcdhgb2	T	C	18: 37,823,023 (GRCm39)	S5P	probably benign	Het
Pde3a	A	T	6: 141,404,975 (GRCm39)	E400V	probably benign	Het
Pkhd1l1	A	G	15: 44,449,804 (GRCm39)	I3856V	possibly damaging	Het
Pld2	G	A	11: 70,443,695 (GRCm39)		probably null	Het
Plxna4	G	T	6: 32,129,807 (GRCm39)	H1839N	probably damaging	Het
Ppp6r2	T	C	15: 89,140,904 (GRCm39)	V89A	probably benign	Het
Rapgef3	T	C	15: 97,655,627 (GRCm39)	D420G	probably damaging	Het
Rnf17	T	A	14: 56,699,529 (GRCm39)		probably null	Het
Rps6ka2	T	A	17: 7,544,848 (GRCm39)		probably null	Het
Rptn	A	T	3: 93,303,228 (GRCm39)	D187V	probably damaging	Het
Rtn1	T	C	12: 72,355,203 (GRCm39)	K248E	probably damaging	Het
Rtn4rl1	A	T	11: 75,155,871 (GRCm39)	H101L	probably benign	Het
Septin3	A	G	15: 82,174,974 (GRCm39)	N305S	probably benign	Het
Serpina3f	G	T	12: 104,183,565 (GRCm39)	K142N	possibly damaging	Het
Ssh1	C	A	5: 114,104,295 (GRCm39)	R116L	probably benign	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tlr6	T	C	5: 65,111,693 (GRCm39)	K405E	possibly damaging	Het
Trbv13-2	G	A	6: 41,098,634 (GRCm39)	A70T	probably benign	Het
Ttn	A	T	2: 76,618,540 (GRCm39)	I16248N	probably damaging	Het
Ttn	A	T	2: 76,655,849 (GRCm39)		probably null	Het
Vldlr	A	T	19: 27,195,015 (GRCm39)	M1L	probably benign	Het
Zbtb8a	A	G	4: 129,251,496 (GRCm39)		probably null	Het
Zfp827	T	C	8: 79,916,958 (GRCm39)	V511A		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
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'- CAGTCCCTGTCCAGAGGA -3'
(R):5'- TAGCGTTCCAAGGAGGGCT -3'

Sequencing Primer
(F):5'- CACAGACAGGAAGTTCCT -3'
(R):5'- CAGATTCCACGTGGCTTTAACTAG -3'

Posted On

2019-11-26