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: 0.167) question?

Stock #

R4577 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14818519-14943158 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14903462 bp (GRCm38)

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
6430531B16Rik	A	G	7: 139,978,130	I51T	probably damaging	Het
Abca1	C	A	4: 53,062,568	C1429F	possibly damaging	Het
Acacb	A	G	5: 114,226,831	E1524G	probably damaging	Het
Ankrd50	A	G	3: 38,455,941	V759A	probably damaging	Het
Ano9	T	C	7: 141,104,138	Q538R	probably damaging	Het
Bnip2	A	G	9: 69,997,162	D67G	probably benign	Het
Cacna1e	A	T	1: 154,402,027	S2060T	possibly damaging	Het
Cand2	G	A	6: 115,791,259	C455Y	probably damaging	Het
Cdh16	T	C	8: 104,618,559	D366G	probably damaging	Het
Cep170b	A	G	12: 112,744,718	R595G	probably damaging	Het
Chaf1a	G	A	17: 56,065,184	R784Q	probably damaging	Het
Clca4a	C	A	3: 144,954,969	S698I	probably damaging	Het
Dnah5	A	C	15: 28,289,250	Y1195S	probably benign	Het
Dysf	T	C	6: 84,137,326	I1229T	probably damaging	Het
Eef2	GCCC	GCCCC	10: 81,178,767		probably null	Het
Ep300	T	C	15: 81,649,009	S1756P	unknown	Het
Ep300	T	A	15: 81,611,410		probably benign	Het
F3	A	G	3: 121,734,114	I254V	probably benign	Het
Fam166a	T	C	2: 25,220,288	S71P	probably benign	Het
Frmd4a	C	A	2: 4,603,679	A786E	possibly damaging	Het
Fsd1l	T	C	4: 53,686,397	F270S	probably damaging	Het
Galnt3	T	C	2: 66,097,859	Y231C	probably benign	Het
Gm10220	A	C	5: 26,117,871	I181S	probably benign	Het
Gm13178	A	C	4: 144,703,753	I222S	probably damaging	Het
Gnb5	G	A	9: 75,343,541	V316I	possibly damaging	Het
Gys2	A	G	6: 142,454,510	F325S	possibly damaging	Het
Hmgn2	G	A	4: 133,967,357		probably benign	Het
Hsph1	A	G	5: 149,618,843	V705A	probably benign	Het
Ighg2b	T	C	12: 113,306,892	E206G	unknown	Het
Iqub	A	T	6: 24,501,291	I220N	probably damaging	Het
Jmjd1c	A	G	10: 67,249,750	T2259A	probably damaging	Het
Kcnq3	T	C	15: 66,286,214	K4R	unknown	Het
Klk12	A	G	7: 43,773,243	D198G	probably damaging	Het
L3mbtl2	G	A	15: 81,686,285	E655K	probably benign	Het
Lrp1b	C	T	2: 40,821,719	C3163Y	probably damaging	Het
Map3k19	T	A	1: 127,822,813	R934*	probably null	Het
Map4	A	G	9: 110,081,421	T1061A	possibly damaging	Het
Mbnl1	G	A	3: 60,529,778	V50I	probably damaging	Het
Med15	G	A	16: 17,674,515	Q132*	probably null	Het
Mef2a	T	C	7: 67,240,439	N131S	probably benign	Het
Mtmr3	G	C	11: 4,497,375	L361V	probably damaging	Het
Myo5a	A	G	9: 75,217,545	E1792G	probably damaging	Het
Nup88	C	A	11: 70,969,717	A55S	probably damaging	Het
Olfr1252	T	C	2: 89,722,043	K23E	possibly damaging	Het
Olfr374	T	A	8: 72,110,323	Y252*	probably null	Het
Pacs1	G	T	19: 5,143,833	S556*	probably null	Het
Parp4	A	G	14: 56,590,410	E206G	probably benign	Het
Paxbp1	T	G	16: 91,015,154	K889N	probably damaging	Het
Pcdhga2	G	A	18: 37,669,249	A49T	possibly damaging	Het
Pcsk6	T	A	7: 65,959,266	L292*	probably null	Het
Plb1	C	T	5: 32,247,557	Q20*	probably null	Het
Plec	C	A	15: 76,184,069	Q1142H	possibly damaging	Het
Pnpla2	T	C	7: 141,457,344	S87P	probably damaging	Het
Prss28	T	C	17: 25,310,105	V140A	probably damaging	Het
Rad17	A	T	13: 100,633,278	S258T	probably damaging	Het
Rnf111	A	T	9: 70,429,584	C932*	probably null	Het
Sdc2	T	C	15: 33,017,132	Y31H	probably damaging	Het
Selenoh	T	C	2: 84,670,331	E55G	possibly damaging	Het
Serpina3k	T	G	12: 104,344,192	V327G	possibly damaging	Het
Setd1b	A	G	5: 123,148,616	E575G	unknown	Het
Slco1a4	A	T	6: 141,819,540	S325R	probably damaging	Het
Smtnl1	C	A	2: 84,818,443	V156L	possibly damaging	Het
Speg	A	G	1: 75,415,395	D1607G	probably damaging	Het
Tctex1d4	A	G	4: 117,128,615	T212A	possibly damaging	Het
Tmem101	T	A	11: 102,155,837	M69L	possibly damaging	Het
Treh	G	A	9: 44,685,911	M542I	probably benign	Het
Trim30b	T	C	7: 104,357,331	Y106C	possibly damaging	Het
Ttc6	T	C	12: 57,576,655	I280T	probably benign	Het
Ubtfl1	A	G	9: 18,409,493	T106A	probably damaging	Het
Xirp2	C	T	2: 67,513,897	P2161S	probably damaging	Het

Other mutations in Wdr27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Wdr27	APN	17	14928310	nonsense	probably null
IGL00973:Wdr27	APN	17	14913878	missense	probably benign	0.01
IGL01012:Wdr27	APN	17	14926247	missense	probably damaging	1.00
IGL01924:Wdr27	APN	17	14917226	missense	probably damaging	0.99
IGL02044:Wdr27	APN	17	14901769	missense	possibly damaging	0.72
IGL02198:Wdr27	APN	17	14908598	missense	possibly damaging	0.52
IGL02430:Wdr27	APN	17	14901800	missense	probably damaging	0.98
IGL02496:Wdr27	APN	17	14892431	splice site	probably benign
IGL02552:Wdr27	APN	17	14926191	missense	probably damaging	1.00
IGL02590:Wdr27	APN	17	14917779	missense	possibly damaging	0.93
IGL02892:Wdr27	APN	17	14876176	missense	possibly damaging	0.95
IGL02957:Wdr27	APN	17	14910110	splice site	probably benign
IGL03295:Wdr27	APN	17	14934575	missense	possibly damaging	0.71
PIT4498001:Wdr27	UTSW	17	14934569	missense	probably benign	0.01
R0329:Wdr27	UTSW	17	14934459	splice site	probably benign
R0671:Wdr27	UTSW	17	14928396	missense	probably benign	0.04
R1166:Wdr27	UTSW	17	14892471	missense	probably damaging	1.00
R1308:Wdr27	UTSW	17	14928384	missense	probably damaging	0.98
R1652:Wdr27	UTSW	17	14917270	missense	probably benign	0.01
R1771:Wdr27	UTSW	17	14892441	missense	probably damaging	1.00
R1966:Wdr27	UTSW	17	14934599	missense	possibly damaging	0.86
R2106:Wdr27	UTSW	17	14920854	missense	probably benign	0.44
R2131:Wdr27	UTSW	17	14928332	missense	probably damaging	1.00
R3803:Wdr27	UTSW	17	14918109	missense	probably benign	0.01
R4335:Wdr27	UTSW	17	14920756	splice site	probably null
R4787:Wdr27	UTSW	17	14932554	missense	possibly damaging	0.86
R4853:Wdr27	UTSW	17	14917213	splice site	probably null
R4922:Wdr27	UTSW	17	14920754	splice site	probably null
R4951:Wdr27	UTSW	17	14876133	missense	probably damaging	0.99
R5784:Wdr27	UTSW	17	14926233	missense	probably damaging	1.00
R5809:Wdr27	UTSW	17	14883669	missense	probably damaging	1.00
R6128:Wdr27	UTSW	17	14932534	nonsense	probably null
R6584:Wdr27	UTSW	17	14901769	missense	probably damaging	1.00
R6705:Wdr27	UTSW	17	14934590	missense	probably damaging	1.00
R7511:Wdr27	UTSW	17	14883703	missense	probably benign	0.00
R8273:Wdr27	UTSW	17	14829576	missense	probably benign
R8350:Wdr27	UTSW	17	14932525	missense	probably benign
R8353:Wdr27	UTSW	17	14892489	missense	probably benign	0.08
R8450:Wdr27	UTSW	17	14932525	missense	probably benign
R8453:Wdr27	UTSW	17	14892489	missense	probably benign	0.08
R8535:Wdr27	UTSW	17	14903537	missense	possibly damaging	0.88
R8735:Wdr27	UTSW	17	14883667	missense	probably damaging	1.00
R8960:Wdr27	UTSW	17	14883646	missense	probably benign	0.01
R9120:Wdr27	UTSW	17	14932584	missense	probably damaging	1.00
R9183:Wdr27	UTSW	17	14928389	missense	possibly damaging	0.50
R9351:Wdr27	UTSW	17	14908571	missense	possibly damaging	0.52
R9373:Wdr27	UTSW	17	14934533	missense	probably benign	0.00
R9389:Wdr27	UTSW	17	14891718	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