Mutagenetix > Incidental Mutation

Incidental Mutation 'R4853:Wdr27'

374537

Institutional Source

Beutler Lab

Gene Symbol

Wdr27

Ensembl Gene

ENSMUSG00000046991

Gene Name

WD repeat domain 27

Synonyms

0610012K18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R4853 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15038781-15163420 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 15137475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170386] [ENSMUST00000228330] [ENSMUST00000232147]

AlphaFold

Q8C5V5

Predicted Effect

probably null
Transcript: ENSMUST00000170386

SMART Domains

Protein: ENSMUSP00000126736
Gene: ENSMUSG00000046991

Domain	Start	End	E-Value	Type
WD40	59	99	4.79e-1	SMART
WD40	114	149	6.36e1	SMART
WD40	152	192	3.93e-7	SMART
WD40	195	235	2.38e1	SMART
low complexity region	473	492	N/A	INTRINSIC
WD40	498	539	1.48e1	SMART
WD40	542	581	5.26e-8	SMART
WD40	642	684	2.97e0	SMART
WD40	687	737	7.64e1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000228330

Predicted Effect

probably benign
Transcript: ENSMUST00000232147

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with multiple WD repeats. Proteins with these repeats may form scaffolds for protein-protein interaction and play key roles in cell signalling. Alternative splicing results in multiple transcript variants, but the full-length structure of some of these variants cannot be determined. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Abr	T	C	11: 76,355,087 (GRCm39)	T244A	probably damaging	Het
Adcy10	T	A	1: 165,375,782 (GRCm39)	N803K	probably benign	Het
Afm	T	C	5: 90,699,326 (GRCm39)	F590S	probably damaging	Het
Agk	T	C	6: 40,360,753 (GRCm39)		probably null	Het
Agrn	C	T	4: 156,270,007 (GRCm39)		probably null	Het
Apon	A	G	10: 128,090,951 (GRCm39)	S210G	probably benign	Het
Atad5	A	G	11: 79,986,098 (GRCm39)	E395G	probably damaging	Het
AU018091	A	T	7: 3,205,861 (GRCm39)	L671H	probably damaging	Het
Capn13	GCA	G	17: 73,658,501 (GRCm39)		probably null	Het
Ccdc154	A	T	17: 25,389,941 (GRCm39)	I524F	probably damaging	Het
Clspn	T	A	4: 126,460,348 (GRCm39)	I525K	probably damaging	Het
Cpne5	A	T	17: 29,380,172 (GRCm39)	V448E	probably benign	Het
Cps1	A	G	1: 67,195,361 (GRCm39)	I261V	possibly damaging	Het
Crybb2	T	C	5: 113,211,054 (GRCm39)	E78G	probably damaging	Het
Ctps1	G	T	4: 120,411,207 (GRCm39)	L270I	probably damaging	Het
Cyp19a1	T	C	9: 54,074,060 (GRCm39)	D431G	probably benign	Het
Cyp3a57	T	G	5: 145,302,489 (GRCm39)	V95G	probably damaging	Het
Ddx54	A	G	5: 120,761,694 (GRCm39)	D490G	probably benign	Het
Dnai2	A	T	11: 114,635,917 (GRCm39)	I301F	probably benign	Het
Dsg1b	A	G	18: 20,541,793 (GRCm39)	S767G	probably benign	Het
Dsg1b	A	T	18: 20,523,189 (GRCm39)		probably null	Het
Ermap	G	A	4: 119,044,451 (GRCm39)	P115L	probably damaging	Het
Esrra	T	G	19: 6,897,440 (GRCm39)	T106P	probably damaging	Het
Exoc5	GTATT	GT	14: 49,289,826 (GRCm39)		probably benign	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gnl3	T	C	14: 30,737,270 (GRCm39)	K203E	probably damaging	Het
H2ac13	A	G	13: 21,900,866 (GRCm39)	E92G	probably damaging	Het
Habp2	G	A	19: 56,299,623 (GRCm39)		probably null	Het
Kcnh3	A	C	15: 99,139,970 (GRCm39)	D952A	possibly damaging	Het
Kif27	T	C	13: 58,459,072 (GRCm39)	K920E	probably benign	Het
Kmt2e	C	T	5: 23,707,339 (GRCm39)	P1634L	probably damaging	Het
Lamc1	A	T	1: 153,104,846 (GRCm39)	M1312K	possibly damaging	Het
Myh14	T	A	7: 44,257,872 (GRCm39)	Q1921L	probably damaging	Het
Ncor2	A	G	5: 125,102,169 (GRCm39)	V68A	probably damaging	Het
Ncor2	A	G	5: 125,158,247 (GRCm39)	F444L	unknown	Het
Nedd9	A	G	13: 41,469,837 (GRCm39)	Y439H	probably benign	Het
Nsd1	T	A	13: 55,416,317 (GRCm39)	H1454Q	probably benign	Het
Or10v9	T	A	19: 11,832,645 (GRCm39)	D224V	probably benign	Het
Or51v8	G	T	7: 103,320,010 (GRCm39)	T76K	probably damaging	Het
Or5i1	T	G	2: 87,613,526 (GRCm39)	F214C	probably benign	Het
Or9m1b	A	G	2: 87,836,448 (GRCm39)	S216P	probably damaging	Het
P4ha2	G	A	11: 54,010,996 (GRCm39)	S337N	probably benign	Het
Pck1	T	A	2: 172,996,507 (GRCm39)	Y140*	probably null	Het
Phldb2	T	C	16: 45,623,079 (GRCm39)	M656V	probably damaging	Het
Pif1	T	C	9: 65,500,858 (GRCm39)	W559R	probably damaging	Het
Pllp	T	C	8: 95,406,022 (GRCm39)	Y87C	probably damaging	Het
Ppp1r3a	T	C	6: 14,719,046 (GRCm39)	N623D	probably benign	Het
Prkcg	C	T	7: 3,367,469 (GRCm39)	R345C	probably damaging	Het
Rgl1	T	C	1: 152,433,325 (GRCm39)	I147V	probably benign	Het
Sdk1	T	A	5: 142,132,018 (GRCm39)	L1649Q	probably damaging	Het
Sema3b	C	T	9: 107,479,266 (GRCm39)		probably null	Het
Sh3rf3	G	A	10: 58,919,341 (GRCm39)	R486H	probably damaging	Het
Shoc1	T	C	4: 59,072,345 (GRCm39)	K624E	possibly damaging	Het
Slain2	A	G	5: 73,105,941 (GRCm39)	N192S	probably benign	Het
Slc22a16	T	A	10: 40,450,047 (GRCm39)	I161N	probably damaging	Het
Strip1	T	C	3: 107,524,232 (GRCm39)	K562E	possibly damaging	Het
Sumf1	A	G	6: 108,162,456 (GRCm39)	L21S	probably benign	Het
Sytl3	T	A	17: 7,005,164 (GRCm39)	S380T	probably damaging	Het
Tgfb1i1	T	A	7: 127,847,840 (GRCm39)	C74*	probably null	Het
Tmprss15	T	G	16: 78,757,479 (GRCm39)	I939L	probably benign	Het
Tpsb2	GGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTG	17: 25,585,536 (GRCm39)		probably benign	Het
Vwde	A	T	6: 13,215,639 (GRCm39)	V139E	probably damaging	Het
Zkscan14	A	G	5: 145,132,001 (GRCm39)	V510A	probably benign	Het

Other mutations in Wdr27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Wdr27	APN	17	15,148,572 (GRCm39)	nonsense	probably null
IGL00973:Wdr27	APN	17	15,134,140 (GRCm39)	missense	probably benign	0.01
IGL01012:Wdr27	APN	17	15,146,509 (GRCm39)	missense	probably damaging	1.00
IGL01924:Wdr27	APN	17	15,137,488 (GRCm39)	missense	probably damaging	0.99
IGL02044:Wdr27	APN	17	15,122,031 (GRCm39)	missense	possibly damaging	0.72
IGL02198:Wdr27	APN	17	15,128,860 (GRCm39)	missense	possibly damaging	0.52
IGL02430:Wdr27	APN	17	15,122,062 (GRCm39)	missense	probably damaging	0.98
IGL02496:Wdr27	APN	17	15,112,693 (GRCm39)	splice site	probably benign
IGL02552:Wdr27	APN	17	15,146,453 (GRCm39)	missense	probably damaging	1.00
IGL02590:Wdr27	APN	17	15,138,041 (GRCm39)	missense	possibly damaging	0.93
IGL02892:Wdr27	APN	17	15,096,438 (GRCm39)	missense	possibly damaging	0.95
IGL02957:Wdr27	APN	17	15,130,372 (GRCm39)	splice site	probably benign
IGL03295:Wdr27	APN	17	15,154,837 (GRCm39)	missense	possibly damaging	0.71
PIT4498001:Wdr27	UTSW	17	15,154,831 (GRCm39)	missense	probably benign	0.01
R0329:Wdr27	UTSW	17	15,154,721 (GRCm39)	splice site	probably benign
R0671:Wdr27	UTSW	17	15,148,658 (GRCm39)	missense	probably benign	0.04
R1166:Wdr27	UTSW	17	15,112,733 (GRCm39)	missense	probably damaging	1.00
R1308:Wdr27	UTSW	17	15,148,646 (GRCm39)	missense	probably damaging	0.98
R1652:Wdr27	UTSW	17	15,137,532 (GRCm39)	missense	probably benign	0.01
R1771:Wdr27	UTSW	17	15,112,703 (GRCm39)	missense	probably damaging	1.00
R1966:Wdr27	UTSW	17	15,154,861 (GRCm39)	missense	possibly damaging	0.86
R2106:Wdr27	UTSW	17	15,141,116 (GRCm39)	missense	probably benign	0.44
R2131:Wdr27	UTSW	17	15,148,594 (GRCm39)	missense	probably damaging	1.00
R3803:Wdr27	UTSW	17	15,138,371 (GRCm39)	missense	probably benign	0.01
R4335:Wdr27	UTSW	17	15,141,018 (GRCm39)	splice site	probably null
R4577:Wdr27	UTSW	17	15,123,724 (GRCm39)	missense	probably benign	0.00
R4787:Wdr27	UTSW	17	15,152,816 (GRCm39)	missense	possibly damaging	0.86
R4922:Wdr27	UTSW	17	15,141,016 (GRCm39)	splice site	probably null
R4951:Wdr27	UTSW	17	15,096,395 (GRCm39)	missense	probably damaging	0.99
R5784:Wdr27	UTSW	17	15,146,495 (GRCm39)	missense	probably damaging	1.00
R5809:Wdr27	UTSW	17	15,103,931 (GRCm39)	missense	probably damaging	1.00
R6128:Wdr27	UTSW	17	15,152,796 (GRCm39)	nonsense	probably null
R6584:Wdr27	UTSW	17	15,122,031 (GRCm39)	missense	probably damaging	1.00
R6705:Wdr27	UTSW	17	15,154,852 (GRCm39)	missense	probably damaging	1.00
R7511:Wdr27	UTSW	17	15,103,965 (GRCm39)	missense	probably benign	0.00
R8273:Wdr27	UTSW	17	15,049,838 (GRCm39)	missense	probably benign
R8350:Wdr27	UTSW	17	15,152,787 (GRCm39)	missense	probably benign
R8353:Wdr27	UTSW	17	15,112,751 (GRCm39)	missense	probably benign	0.08
R8450:Wdr27	UTSW	17	15,152,787 (GRCm39)	missense	probably benign
R8453:Wdr27	UTSW	17	15,112,751 (GRCm39)	missense	probably benign	0.08
R8535:Wdr27	UTSW	17	15,123,799 (GRCm39)	missense	possibly damaging	0.88
R8735:Wdr27	UTSW	17	15,103,929 (GRCm39)	missense	probably damaging	1.00
R8960:Wdr27	UTSW	17	15,103,908 (GRCm39)	missense	probably benign	0.01
R9120:Wdr27	UTSW	17	15,152,846 (GRCm39)	missense	probably damaging	1.00
R9183:Wdr27	UTSW	17	15,148,651 (GRCm39)	missense	possibly damaging	0.50
R9351:Wdr27	UTSW	17	15,128,833 (GRCm39)	missense	possibly damaging	0.52
R9373:Wdr27	UTSW	17	15,154,795 (GRCm39)	missense	probably benign	0.00
R9389:Wdr27	UTSW	17	15,111,980 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- GTGCAGTGTATTCCCTAACAAAG -3'
(R):5'- TGGGAAAGTCTCAACCACAC -3'

Sequencing Primer
(F):5'- GTGTATTCCCTAACAAAGGTAACGC -3'
(R):5'- TGGGAAAGTCTCAACCACACTAATG -3'

Posted On

2016-03-16