Mutagenetix > Incidental Mutation

Incidental Mutation 'R5126:Wdcp'

393572

Institutional Source

Beutler Lab

Gene Symbol

Wdcp

Ensembl Gene

ENSMUSG00000051721

Gene Name

WD repeat and coiled coil containing

Synonyms

BC068281

MMRRC Submission

042714-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.707) question?

Stock #

R5126 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4893303-4910043 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4900617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 158 (R158S)

Ref Sequence

ENSEMBL: ENSMUSP00000151585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053034] [ENSMUST00000085793] [ENSMUST00000220170] [ENSMUST00000220215] [ENSMUST00000223551]

AlphaFold

Q6NV72

Predicted Effect

probably damaging
Transcript: ENSMUST00000053034
AA Change: R158S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054102
Gene: ENSMUSG00000051721
AA Change: R158S

Domain	Start	End	E-Value	Type
Pfam:DUF4613	2	610	1.9e-260	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000085793
AA Change: R158S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000082948
Gene: ENSMUSG00000051721
AA Change: R158S

Domain	Start	End	E-Value	Type
Pfam:DUF4613	2	643	2.4e-280	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219069

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220170
AA Change: R158S

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000220215
AA Change: R158S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223551
AA Change: R158S

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	G	A	2: 26,886,927 (GRCm39)		probably null	Het
Ahdc1	T	A	4: 132,790,833 (GRCm39)	F691L	probably benign	Het
Ahsa2	T	A	11: 23,441,036 (GRCm39)	I202F	possibly damaging	Het
Akap10	C	T	11: 61,807,015 (GRCm39)	A72T	probably damaging	Het
Ccnb1	C	G	13: 100,918,283 (GRCm39)	Q121H	possibly damaging	Het
Cep164	A	G	9: 45,698,722 (GRCm39)		probably null	Het
Cltc	A	G	11: 86,603,495 (GRCm39)	V781A	probably damaging	Het
Dchs1	A	G	7: 105,402,724 (GRCm39)	S3273P	probably damaging	Het
Dnajc16	C	A	4: 141,501,820 (GRCm39)	V337L	probably benign	Het
Fstl4	T	C	11: 53,077,388 (GRCm39)	V715A	possibly damaging	Het
Grik1	C	T	16: 87,744,747 (GRCm39)	G502S	probably damaging	Het
Ifi213	A	G	1: 173,417,581 (GRCm39)	V277A	possibly damaging	Het
Ints15	G	T	5: 143,293,701 (GRCm39)	P259T	probably benign	Het
Jph3	T	C	8: 122,479,787 (GRCm39)	V155A	possibly damaging	Het
Katnal2	T	C	18: 77,105,294 (GRCm39)	E51G	probably benign	Het
Kcna2	T	A	3: 107,011,550 (GRCm39)	F44I	probably damaging	Het
Kcna6	T	C	6: 126,715,695 (GRCm39)	E398G	probably damaging	Het
Kif15	A	T	9: 122,804,823 (GRCm39)	H190L	probably damaging	Het
Lmbrd2	A	G	15: 9,194,788 (GRCm39)	R597G	possibly damaging	Het
Lrtm2	T	A	6: 119,294,400 (GRCm39)	M244L	probably benign	Het
Ly6c2	A	C	15: 74,983,492 (GRCm39)	S9A	possibly damaging	Het
Mbd4	T	A	6: 115,825,929 (GRCm39)		probably null	Het
Mfsd2b	A	G	12: 4,916,183 (GRCm39)	I269T	probably benign	Het
Muc6	A	T	7: 141,237,564 (GRCm39)	C218S	probably damaging	Het
Nlrc5	G	T	8: 95,201,299 (GRCm39)	R131L	possibly damaging	Het
Nlrp1b	A	T	11: 71,072,359 (GRCm39)	C495S	possibly damaging	Het
Nsf	C	A	11: 103,773,618 (GRCm39)	E299*	probably null	Het
Obscn	T	A	11: 58,967,889 (GRCm39)	E336D	probably damaging	Het
Or14j9	G	T	17: 37,874,719 (GRCm39)	T161K	probably benign	Het
Pan3	A	G	5: 147,464,008 (GRCm39)	N587S	probably benign	Het
Pgap6	T	C	17: 26,340,614 (GRCm39)	I666T	probably damaging	Het
Plch2	T	C	4: 155,084,976 (GRCm39)	D321G	probably damaging	Het
Plscr4	G	A	9: 92,370,794 (GRCm39)	D254N	probably damaging	Het
Pnma8a	A	C	7: 16,695,242 (GRCm39)	M366L	probably benign	Het
Pnpla7	G	T	2: 24,870,056 (GRCm39)	C12F	possibly damaging	Het
Ptprk	G	T	10: 28,451,640 (GRCm39)		probably null	Het
Rgs22	A	G	15: 36,040,790 (GRCm39)	V899A	probably damaging	Het
Ruvbl1	T	A	6: 88,462,883 (GRCm39)	C336S	probably benign	Het
Slc27a5	T	A	7: 12,725,247 (GRCm39)	H400L	probably damaging	Het
Slc66a1	T	C	4: 139,029,843 (GRCm39)	T63A	probably benign	Het
Slco1a4	A	T	6: 141,761,308 (GRCm39)	V435D	possibly damaging	Het
Snx14	A	T	9: 88,264,152 (GRCm39)	Y818N	probably damaging	Het
Tln2	A	G	9: 67,165,817 (GRCm39)	I2098T	probably damaging	Het
Tlr11	T	C	14: 50,598,287 (GRCm39)	L91P	probably damaging	Het
Tmem208	T	A	8: 106,061,282 (GRCm39)	F103I	probably benign	Het
Vmn2r3	C	T	3: 64,166,740 (GRCm39)	C797Y	probably damaging	Het
Vwde	T	A	6: 13,187,259 (GRCm39)	M743L	probably benign	Het
Zfp773	T	C	7: 7,139,623 (GRCm39)	T9A	unknown	Het

Other mutations in Wdcp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00770:Wdcp	APN	12	4,905,303 (GRCm39)	missense	probably damaging	1.00
IGL00774:Wdcp	APN	12	4,905,303 (GRCm39)	missense	probably damaging	1.00
IGL02327:Wdcp	APN	12	4,901,115 (GRCm39)	missense	possibly damaging	0.95
IGL02725:Wdcp	APN	12	4,901,206 (GRCm39)	missense	probably damaging	1.00
IGL03377:Wdcp	APN	12	4,900,691 (GRCm39)	nonsense	probably null
IGL03381:Wdcp	APN	12	4,901,926 (GRCm39)	missense	probably damaging	1.00
R0152:Wdcp	UTSW	12	4,901,583 (GRCm39)	missense	probably benign	0.06
R0317:Wdcp	UTSW	12	4,901,583 (GRCm39)	missense	probably benign	0.06
R1077:Wdcp	UTSW	12	4,900,685 (GRCm39)	missense	probably damaging	1.00
R1136:Wdcp	UTSW	12	4,901,655 (GRCm39)	missense	possibly damaging	0.78
R1571:Wdcp	UTSW	12	4,901,924 (GRCm39)	nonsense	probably null
R1653:Wdcp	UTSW	12	4,901,815 (GRCm39)	missense	probably damaging	1.00
R1848:Wdcp	UTSW	12	4,900,245 (GRCm39)	missense	possibly damaging	0.86
R4091:Wdcp	UTSW	12	4,905,279 (GRCm39)	missense	probably null	0.00
R6148:Wdcp	UTSW	12	4,900,621 (GRCm39)	missense	possibly damaging	0.74
R6529:Wdcp	UTSW	12	4,901,143 (GRCm39)	missense	probably damaging	1.00
R6800:Wdcp	UTSW	12	4,901,358 (GRCm39)	missense	probably damaging	1.00
R7432:Wdcp	UTSW	12	4,900,246 (GRCm39)	missense	probably damaging	1.00
R7821:Wdcp	UTSW	12	4,907,975 (GRCm39)	missense	probably benign	0.07
R8182:Wdcp	UTSW	12	4,901,850 (GRCm39)	missense	probably damaging	1.00
R8553:Wdcp	UTSW	12	4,902,024 (GRCm39)	intron	probably benign
R8845:Wdcp	UTSW	12	4,901,439 (GRCm39)	missense	probably benign	0.26
R9134:Wdcp	UTSW	12	4,901,533 (GRCm39)	nonsense	probably null
R9609:Wdcp	UTSW	12	4,900,258 (GRCm39)	missense	probably damaging	0.98
U24488:Wdcp	UTSW	12	4,900,405 (GRCm39)	missense	probably damaging	1.00
X0026:Wdcp	UTSW	12	4,901,077 (GRCm39)	nonsense	probably null
Z1088:Wdcp	UTSW	12	4,900,825 (GRCm39)	missense	probably damaging	1.00
Z1176:Wdcp	UTSW	12	4,901,785 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AAATGGCAGGCGTCTCAGAC -3'
(R):5'- AAGGCTTCAGATGCATTTAAGC -3'

Sequencing Primer
(F):5'- AGGCGTCTCAGACCTCTG -3'
(R):5'- CTACAAAGCTTATGGAGTGGAAGTTC -3'

Posted On

2016-06-15