Mutagenetix > Incidental Mutation

Incidental Mutation 'R9183:Wdr27'

697212

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 #

R9183 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14818519-14943158 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 14928389 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 114 (R114Q)

Ref Sequence

ENSEMBL: ENSMUSP00000126736 (fasta)

Gene Model

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

AlphaFold

Q8C5V5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170386
AA Change: R114Q

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126736
Gene: ENSMUSG00000046991
AA Change: R114Q

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

possibly damaging
Transcript: ENSMUST00000228330
AA Change: R114Q

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably damaging
Transcript: ENSMUST00000232147
AA Change: R114Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	A	G	14: 8,251,559	C313R	probably damaging	Het
Adap2	A	G	11: 80,155,056	N54S	probably damaging	Het
Adcy8	T	C	15: 64,822,267	D387G	probably damaging	Het
Adgra1	G	A	7: 139,875,800	R448Q	probably benign	Het
Antxr1	A	T	6: 87,287,043	D148E	probably damaging	Het
Ap3d1	A	T	10: 80,709,793	V1034E	probably null	Het
Arpp21	C	T	9: 112,065,998	A731T	probably benign	Het
Asl	T	A	5: 130,013,471	R255W	probably damaging	Het
Asxl1	T	A	2: 153,397,920	S544T	probably damaging	Het
Atp8a1	A	C	5: 67,767,035	Y329D		Het
Calcr	A	T	6: 3,711,463	I186N	probably damaging	Het
Cdh18	T	C	15: 23,226,979		probably null	Het
Celsr3	T	C	9: 108,829,396	L1026P	probably damaging	Het
Ces2a	T	A	8: 104,734,142	V24E	possibly damaging	Het
Clybl	T	C	14: 122,401,975	I317T	probably damaging	Het
Col13a1	T	A	10: 61,863,979	T476S	unknown	Het
Cyp4f15	T	C	17: 32,700,231	S343P	probably damaging	Het
D230025D16Rik	C	A	8: 105,231,208	Q49K	probably benign	Het
D630003M21Rik	T	C	2: 158,217,192	T263A	probably benign	Het
Fbxo28	A	G	1: 182,329,961	V97A	possibly damaging	Het
Frem2	C	T	3: 53,520,065	V2889I	probably damaging	Het
Garnl3	T	C	2: 33,005,068	E663G	probably damaging	Het
Gen1	T	A	12: 11,249,185	K338M	probably damaging	Het
Gfi1	A	G	5: 107,725,953		probably null	Het
Gfod2	A	G	8: 105,723,021	S95P	probably benign	Het
H2-Bl	T	A	17: 36,081,490	H31L	unknown	Het
Heatr1	A	G	13: 12,421,385	Q1224R	probably damaging	Het
Hectd4	A	G	5: 121,299,488	K1059E	possibly damaging	Het
Hmgcs2	C	T	3: 98,290,916	A45V	possibly damaging	Het
Hnmt	C	A	2: 24,003,643	V280L	probably benign	Het
Ifi35	G	T	11: 101,457,265	V66L	probably benign	Het
Kcnn2	T	C	18: 45,561,312	I188T	probably damaging	Het
Klhl8	C	A	5: 103,864,245	A575S	probably benign	Het
Krt6a	T	C	15: 101,693,011	D225G	probably benign	Het
Lrtm2	T	C	6: 119,317,423	Y249C	probably damaging	Het
Med12l	C	T	3: 59,077,077	R479C	probably damaging	Het
Muc5ac	A	T	7: 141,798,900	Y709F	possibly damaging	Het
Nsd2	G	A	5: 33,871,452	A162T	probably damaging	Het
Olfr768	A	G	10: 129,093,332	M214T	probably benign	Het
Polr2h	T	C	16: 20,720,535	Y90H	possibly damaging	Het
Prkaa1	A	T	15: 5,176,488	E275V	probably damaging	Het
Prss22	C	T	17: 23,994,618	G233E	probably damaging	Het
Rhcg	A	T	7: 79,594,816	L496*	probably null	Het
Rnf213	A	G	11: 119,427,622	E1084G		Het
Safb2	ACTTCTTCT	ACTTCT	17: 56,571,292		probably benign	Het
Slc14a1	T	A	18: 78,111,383	I263F	probably benign	Het
Slc40a1	C	T	1: 45,909,511	M536I	possibly damaging	Het
Slco6c1	T	A	1: 97,069,050		probably null	Het
Stk32a	T	C	18: 43,261,340	F118S	probably damaging	Het
Sytl1	G	T	4: 133,253,623	R467S	possibly damaging	Het
Thbs2	T	C	17: 14,676,264	I788V	probably benign	Het
Tmed6	T	A	8: 107,061,758	R186*	probably null	Het
Trnau1ap	G	A	4: 132,325,254	R78C	probably damaging	Het
Trpv1	A	T	11: 73,244,213	D412V	possibly damaging	Het
Ttc16	C	T	2: 32,757,317	V688M	probably benign	Het
Ubr5	C	A	15: 37,997,176	L1738F		Het
Vmn2r89	A	G	14: 51,455,044	I101M	probably benign	Het
Wdr48	A	G	9: 119,920,664	H563R	possibly damaging	Het
Wdr49	A	C	3: 75,298,112	S666A	probably benign	Het
Wwox	T	C	8: 114,706,370	S259P	probably damaging	Het
Zfp160	T	A	17: 21,020,092	D12E	possibly damaging	Het
Zfp800	A	G	6: 28,243,173	Y598H	probably benign	Het
Zfp970	T	C	2: 177,475,743	L370P	probably damaging	Het
Zmat5	A	T	11: 4,722,431	D16V	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
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
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'- TGCCGTTTTAAAGAGGGAAGC -3'
(R):5'- GAGGCCAGTTTCCATATGGC -3'

Sequencing Primer
(F):5'- GAAGCAGGAATGAAATACTCACC -3'
(R):5'- TGATCCTGTACTGAAAAACCTCAGG -3'

Posted On

2022-02-07