Mutagenetix > Incidental Mutation

Incidental Mutation 'R4577:Wdr27'

342589

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: 0.135) question?

Stock #

R4577 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15038781-15163420 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15123724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 583 (H583R)

Ref Sequence

ENSEMBL: ENSMUSP00000155992 (fasta)

Gene Model

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

AlphaFold

Q8C5V5

Predicted Effect

probably benign
Transcript: ENSMUST00000170386
AA Change: H583R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126736
Gene: ENSMUSG00000046991
AA Change: H583R

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

noncoding transcript
Transcript: ENSMUST00000228233

Predicted Effect

probably benign
Transcript: ENSMUST00000228330
AA Change: H583R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000232147
AA Change: H583R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	A	C	4: 144,430,323 (GRCm39)	I222S	probably damaging	Het
Abca1	C	A	4: 53,062,568 (GRCm39)	C1429F	possibly damaging	Het
Acacb	A	G	5: 114,364,892 (GRCm39)	E1524G	probably damaging	Het
Ankrd50	A	G	3: 38,510,090 (GRCm39)	V759A	probably damaging	Het
Ano9	T	C	7: 140,684,051 (GRCm39)	Q538R	probably damaging	Het
Bnip2	A	G	9: 69,904,444 (GRCm39)	D67G	probably benign	Het
Cacna1e	A	T	1: 154,277,773 (GRCm39)	S2060T	possibly damaging	Het
Cand2	G	A	6: 115,768,220 (GRCm39)	C455Y	probably damaging	Het
Cdh16	T	C	8: 105,345,191 (GRCm39)	D366G	probably damaging	Het
Cep170b	A	G	12: 112,711,152 (GRCm39)	R595G	probably damaging	Het
Chaf1a	G	A	17: 56,372,184 (GRCm39)	R784Q	probably damaging	Het
Cimip2a	T	C	2: 25,110,300 (GRCm39)	S71P	probably benign	Het
Clca4a	C	A	3: 144,660,730 (GRCm39)	S698I	probably damaging	Het
Dnah5	A	C	15: 28,289,396 (GRCm39)	Y1195S	probably benign	Het
Dynlt4	A	G	4: 116,985,812 (GRCm39)	T212A	possibly damaging	Het
Dysf	T	C	6: 84,114,308 (GRCm39)	I1229T	probably damaging	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Ep300	T	C	15: 81,533,210 (GRCm39)	S1756P	unknown	Het
Ep300	T	A	15: 81,495,611 (GRCm39)		probably benign	Het
F3	A	G	3: 121,527,763 (GRCm39)	I254V	probably benign	Het
Frmd4a	C	A	2: 4,608,490 (GRCm39)	A786E	possibly damaging	Het
Fsd1l	T	C	4: 53,686,397 (GRCm39)	F270S	probably damaging	Het
Galnt3	T	C	2: 65,928,203 (GRCm39)	Y231C	probably benign	Het
Gm10220	A	C	5: 26,322,869 (GRCm39)	I181S	probably benign	Het
Gnb5	G	A	9: 75,250,823 (GRCm39)	V316I	possibly damaging	Het
Gys2	A	G	6: 142,400,236 (GRCm39)	F325S	possibly damaging	Het
Hmgn2	G	A	4: 133,694,668 (GRCm39)		probably benign	Het
Hsph1	A	G	5: 149,542,308 (GRCm39)	V705A	probably benign	Het
Ighg2b	T	C	12: 113,270,512 (GRCm39)	E206G	unknown	Het
Iqub	A	T	6: 24,501,290 (GRCm39)	I220N	probably damaging	Het
Jmjd1c	A	G	10: 67,085,529 (GRCm39)	T2259A	probably damaging	Het
Kcnq3	T	C	15: 66,158,063 (GRCm39)	K4R	unknown	Het
Klk12	A	G	7: 43,422,667 (GRCm39)	D198G	probably damaging	Het
L3mbtl2	G	A	15: 81,570,486 (GRCm39)	E655K	probably benign	Het
Lrp1b	C	T	2: 40,711,731 (GRCm39)	C3163Y	probably damaging	Het
Map3k19	T	A	1: 127,750,550 (GRCm39)	R934*	probably null	Het
Map4	A	G	9: 109,910,489 (GRCm39)	T1061A	possibly damaging	Het
Mbnl1	G	A	3: 60,437,199 (GRCm39)	V50I	probably damaging	Het
Med15	G	A	16: 17,492,379 (GRCm39)	Q132*	probably null	Het
Mef2a	T	C	7: 66,890,187 (GRCm39)	N131S	probably benign	Het
Mtmr3	G	C	11: 4,447,375 (GRCm39)	L361V	probably damaging	Het
Myo5a	A	G	9: 75,124,827 (GRCm39)	E1792G	probably damaging	Het
Nup88	C	A	11: 70,860,543 (GRCm39)	A55S	probably damaging	Het
Or1ab2	T	A	8: 72,864,167 (GRCm39)	Y252*	probably null	Het
Or4a79	T	C	2: 89,552,387 (GRCm39)	K23E	possibly damaging	Het
Pacs1	G	T	19: 5,193,861 (GRCm39)	S556*	probably null	Het
Parp4	A	G	14: 56,827,867 (GRCm39)	E206G	probably benign	Het
Paxbp1	T	G	16: 90,812,042 (GRCm39)	K889N	probably damaging	Het
Pcdhga2	G	A	18: 37,802,302 (GRCm39)	A49T	possibly damaging	Het
Pcsk6	T	A	7: 65,609,014 (GRCm39)	L292*	probably null	Het
Plb1	C	T	5: 32,404,901 (GRCm39)	Q20*	probably null	Het
Plec	C	A	15: 76,068,269 (GRCm39)	Q1142H	possibly damaging	Het
Pnpla2	T	C	7: 141,037,257 (GRCm39)	S87P	probably damaging	Het
Prss28	T	C	17: 25,529,079 (GRCm39)	V140A	probably damaging	Het
Rad17	A	T	13: 100,769,786 (GRCm39)	S258T	probably damaging	Het
Rnf111	A	T	9: 70,336,866 (GRCm39)	C932*	probably null	Het
Sdc2	T	C	15: 33,017,278 (GRCm39)	Y31H	probably damaging	Het
Selenoh	T	C	2: 84,500,675 (GRCm39)	E55G	possibly damaging	Het
Serpina3k	T	G	12: 104,310,451 (GRCm39)	V327G	possibly damaging	Het
Setd1b	A	G	5: 123,286,679 (GRCm39)	E575G	unknown	Het
Slco1a4	A	T	6: 141,765,266 (GRCm39)	S325R	probably damaging	Het
Smtnl1	C	A	2: 84,648,787 (GRCm39)	V156L	possibly damaging	Het
Spef1l	A	G	7: 139,558,043 (GRCm39)	I51T	probably damaging	Het
Speg	A	G	1: 75,392,039 (GRCm39)	D1607G	probably damaging	Het
Tmem101	T	A	11: 102,046,663 (GRCm39)	M69L	possibly damaging	Het
Treh	G	A	9: 44,597,208 (GRCm39)	M542I	probably benign	Het
Trim30b	T	C	7: 104,006,538 (GRCm39)	Y106C	possibly damaging	Het
Ttc6	T	C	12: 57,623,441 (GRCm39)	I280T	probably benign	Het
Ubtfl1	A	G	9: 18,320,789 (GRCm39)	T106A	probably damaging	Het
Xirp2	C	T	2: 67,344,241 (GRCm39)	P2161S	probably damaging	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
R4787:Wdr27	UTSW	17	15,152,816 (GRCm39)	missense	possibly damaging	0.86
R4853:Wdr27	UTSW	17	15,137,475 (GRCm39)	splice site	probably null
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'- CTGTTGTTGGTGTTCCCCAAAG -3'
(R):5'- CCCTTATTCCTTGAGAAGCAGC -3'

Sequencing Primer
(F):5'- TGTGACAGTCCATAGCTCAGG -3'
(R):5'- AGCAGCTCTGGCCTGTTC -3'

Posted On

2015-09-24