Mutagenetix > Incidental Mutation

Incidental Mutation 'R9373:Wdr27'

709464

Institutional Source

Beutler Lab

Gene Symbol

Wdr27

Ensembl Gene

ENSMUSG00000046991

Gene Name

WD repeat domain 27

Synonyms

0610012K18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R9373 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14818519-14943158 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 14934533 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 41 (H41Y)

Ref Sequence

ENSEMBL: ENSMUSP00000126736 (fasta)

Gene Model

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

AlphaFold

Q8C5V5

Predicted Effect

probably benign
Transcript: ENSMUST00000170386
AA Change: H41Y

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

SMART Domains

Protein: ENSMUSP00000126736
Gene: ENSMUSG00000046991
AA Change: H41Y

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 benign
Transcript: ENSMUST00000228330
AA Change: H41Y

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

Predicted Effect

probably benign
Transcript: ENSMUST00000232147
AA Change: H41Y

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

96% (53/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
2310003L06Rik	A	C	5: 87,972,809	D475A	probably benign	Het
3110043O21Rik	A	G	4: 35,196,985	F360S		Het
Aatk	T	C	11: 120,015,517	M243V	possibly damaging	Het
Acox1	A	T	11: 116,174,347	N627K	possibly damaging	Het
Adal	A	G	2: 121,150,222	Y142C	probably benign	Het
Agfg2	A	G	5: 137,664,214		probably null	Het
Ajap1	C	T	4: 153,432,213	A224T	probably benign	Het
Alg1	T	C	16: 5,239,126	F234L	probably benign	Het
Arhgap27	G	T	11: 103,360,461	A147E	possibly damaging	Het
Cachd1	T	C	4: 100,974,870	V743A	possibly damaging	Het
Cc2d2b	G	A	19: 40,795,723	V655I	unknown	Het
Cd72	T	C	4: 43,450,141	S256G	possibly damaging	Het
Celf2	G	T	2: 6,547,104	N521K	probably benign	Het
Clca4a	T	A	3: 144,966,372	N270Y	possibly damaging	Het
Clvs2	A	T	10: 33,528,386	V278E	probably benign	Het
Cwf19l2	T	C	9: 3,454,718	F677S	probably damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611		probably benign	Het
Dyx1c1	A	G	9: 72,964,180	T241A	probably damaging	Het
Epdr1	T	C	13: 19,594,537	N130D	possibly damaging	Het
Fam184a	G	A	10: 53,690,019	R491W	probably benign	Het
Fam71e2	T	C	7: 4,757,713	M667V		Het
Foxp2	A	G	6: 15,377,970	Q160R	unknown	Het
Fstl5	T	A	3: 76,648,362	Y515*	probably null	Het
Helz2	G	T	2: 181,240,948	N17K	probably benign	Het
Jmjd1c	C	T	10: 67,096,716		probably benign	Het
Jup	C	T	11: 100,379,565	C372Y	probably damaging	Het
Lrrn1	A	C	6: 107,568,504	Q421P	possibly damaging	Het
Mapk1	A	G	16: 17,018,290	I101V	probably benign	Het
Me2	T	C	18: 73,785,729	E427G	probably damaging	Het
Mrc1	G	A	2: 14,270,188	M433I	probably damaging	Het
Mrvi1	A	G	7: 110,945,831		probably null	Het
Nelfb	G	A	2: 25,205,206	R324W	probably damaging	Het
Nlrp4b	T	A	7: 10,715,199	I443K	probably benign	Het
Nup210l	C	T	3: 90,199,866	P1570L	probably benign	Het
Olfr1012	A	T	2: 85,759,931	Y148*	probably null	Het
Olfr1474	A	G	19: 13,471,852	E294G	probably damaging	Het
Olfr877	T	A	9: 37,855,454	V212D	probably damaging	Het
Olfr914	G	A	9: 38,606,846	C127Y	possibly damaging	Het
Parvb	C	T	15: 84,303,899	T281I	probably damaging	Het
Prune2	A	G	19: 17,122,138	T1669A	probably benign	Het
Runx3	A	G	4: 135,121,145	T14A	probably benign	Het
Scn9a	A	G	2: 66,483,917	V1819A	probably benign	Het
Senp1	T	C	15: 98,066,554	T260A	probably benign	Het
Serpinb10	A	G	1: 107,547,019	R304G	possibly damaging	Het
Spem1	C	T	11: 69,821,814	C65Y	probably benign	Het
Tdrd6	A	G	17: 43,628,162	V665A	possibly damaging	Het
Tenm2	C	T	11: 36,039,886	A1772T	probably damaging	Het
Tenm3	C	T	8: 48,299,655	V891I	probably damaging	Het
Trank1	A	G	9: 111,365,191	D761G	probably benign	Het
Ubap2l	A	T	3: 90,008,280	Y985N	unknown	Het
Vwc2l	A	T	1: 70,729,059	H94L	probably damaging	Het
Zcchc6	T	C	13: 59,796,867	S1053G	probably damaging	Het
Zfp7	AGTGCGGGAAAGGTTTCCACCTG	AG	15: 76,890,598		probably benign	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600		probably benign	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
R4577:Wdr27	UTSW	17	14903462	missense	probably benign	0.00
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
R9389:Wdr27	UTSW	17	14891718	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- CTCACAGGTGACTCCATGAGAG -3'
(R):5'- ACACTCATGCTCATGGTGATG -3'

Sequencing Primer
(F):5'- CTCCATGAGAGGGAATGTTTCTAG -3'
(R):5'- CTACATGAGACCGTGTATTGCAC -3'

Posted On

2022-04-18