Mutagenetix > Incidental Mutation

Incidental Mutation 'R8735:Wdr27'

663010

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 #

R8735 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14818519-14943158 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14883667 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 726 (T726A)

Ref Sequence

ENSEMBL: ENSMUSP00000126736 (fasta)

Gene Model

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

AlphaFold

Q8C5V5

Predicted Effect

probably damaging
Transcript: ENSMUST00000170386
AA Change: T726A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126736
Gene: ENSMUSG00000046991
AA Change: T726A

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 damaging
Transcript: ENSMUST00000228330
AA Change: T726A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000232147
AA Change: T726A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (76/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	C	T	1: 93,154,486		probably null	Het
6430550D23Rik	A	G	2: 156,003,811	F9S	unknown	Het
Abhd10	A	G	16: 45,737,634	F101L	probably damaging	Het
Acp2	A	G	2: 91,204,306	T93A	probably benign	Het
Adamts9	C	T	6: 92,860,067		probably benign	Het
Aknad1	T	A	3: 108,775,299		probably benign	Het
Ank3	A	T	10: 69,986,955	T485S	probably benign	Het
Caly	G	A	7: 140,072,590	R82C	probably damaging	Het
Cfhr2	A	G	1: 139,858,605	L8P	probably damaging	Het
Cpeb2	T	A	5: 43,281,432	L869*	probably null	Het
Cxxc1	A	G	18: 74,217,260	K33E	possibly damaging	Het
Cyp17a1	T	C	19: 46,671,094		probably null	Het
Cyp4a30b	G	A	4: 115,452,779	W59*	probably null	Het
Dennd4b	T	C	3: 90,277,865	V1204A	probably damaging	Het
Dpyd	T	A	3: 119,141,916	D663E	possibly damaging	Het
Esrrg	A	T	1: 188,201,008		probably benign	Het
Exoc2	A	C	13: 30,906,839	L261V	probably damaging	Het
Exosc9	T	C	3: 36,555,513	L185S	probably damaging	Het
Gcnt3	T	C	9: 70,034,446	K280R	probably benign	Het
Gm35339	T	C	15: 76,356,575	Y488H		Het
Ighv1-64	A	T	12: 115,507,597	M100K	probably benign	Het
Impdh2	G	A	9: 108,564,779		probably null	Het
Itsn2	T	A	12: 4,671,474	I1068K	probably damaging	Het
Kif5c	T	C	2: 49,694,771	C169R	probably damaging	Het
Kndc1	A	G	7: 139,910,214	S211G	probably benign	Het
Lama2	T	A	10: 27,190,534	E1117V	probably damaging	Het
Lgals4	C	T	7: 28,841,496	R282C	probably damaging	Het
Lsg1	T	A	16: 30,581,047		probably null	Het
Msh3	A	G	13: 92,274,866	S608P	possibly damaging	Het
Mslnl	T	A	17: 25,745,088	F464I	probably benign	Het
Mycbp2	T	A	14: 103,223,150	K1493N	probably damaging	Het
Myo15	A	T	11: 60,510,853		probably null	Het
Myo1b	A	T	1: 51,755,737	F1065I	probably benign	Het
Nf1	A	G	11: 79,454,310		probably benign	Het
Nup153	C	A	13: 46,727,551		probably benign	Het
Olfr1291-ps1	T	A	2: 111,500,152	I300K	probably damaging	Het
Olfr1447	A	G	19: 12,900,910	V290A	possibly damaging	Het
Osbpl7	A	G	11: 97,052,368	T149A	probably benign	Het
Parp1	A	G	1: 180,569,125	D31G	probably benign	Het
Pcdha6	T	A	18: 36,968,150	V132E	possibly damaging	Het
Pcdhb8	T	A	18: 37,356,922	L551Q	possibly damaging	Het
Pcsk9	T	A	4: 106,454,611	T190S	probably damaging	Het
Pdgfrb	A	T	18: 61,063,977	T162S	probably benign	Het
Pi4ka	C	T	16: 17,318,370	R908Q		Het
Pnpla8	A	G	12: 44,283,439	E258G	probably benign	Het
Prrc2c	A	T	1: 162,709,558	S643T	unknown	Het
Rnf20	T	G	4: 49,655,964	I970S	possibly damaging	Het
Robo2	A	T	16: 73,958,359	V758D	probably damaging	Het
Robo4	G	A	9: 37,408,281	S609N	possibly damaging	Het
Rrbp1	G	A	2: 143,989,000	Q416*	probably null	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,579,907		probably benign	Het
Ryr2	C	A	13: 11,686,947	E2941D	probably damaging	Het
Scd2	G	T	19: 44,301,304	C246F	probably benign	Het
Sh3rf1	G	A	8: 61,372,653	V561I	probably benign	Het
Slc4a4	T	A	5: 89,132,442	D366E	probably damaging	Het
Slfn14	T	G	11: 83,283,889	Q92P	probably damaging	Het
Slfn4	A	T	11: 83,186,944	Y186F	probably damaging	Het
Smpd4	T	C	16: 17,635,546	L309P	possibly damaging	Het
Smyd3	G	T	1: 179,092,917	N217K	probably benign	Het
Spen	T	C	4: 141,469,818	T3547A	probably benign	Het
Suclg1	A	T	6: 73,276,746	I126F	unknown	Het
Tenm4	C	T	7: 96,905,941	P2618S	probably benign	Het
Tmprss15	A	T	16: 79,001,814	I660N	possibly damaging	Het
Trf	A	T	9: 103,210,524	V677D	probably damaging	Het
Trim36	T	C	18: 46,169,385	N532S	probably benign	Het
Trim37	T	C	11: 87,147,059		probably null	Het
Ttn	T	C	2: 76,740,110	N26813S	probably benign	Het
Vmn1r199	T	A	13: 22,383,367	V277D	probably damaging	Het
Wdfy3	T	C	5: 101,930,085	D873G	probably benign	Het
Wdtc1	A	T	4: 133,304,200	C236*	probably null	Het
Wnk4	A	C	11: 101,276,266	S1083R	unknown	Het
Wwc1	A	T	11: 35,883,407	I342N	probably damaging	Het
Zbtb40	A	G	4: 136,998,646	L534P	probably damaging	Het
Zfp62	T	C	11: 49,217,400	C773R	probably damaging	Het
Zfp709	T	A	8: 71,889,183	I152N	probably benign	Het
Zfp738	T	C	13: 67,671,431	Y147C	probably damaging	Het
Zscan18	A	C	7: 12,769,698	S645A	probably benign	Het
Zw10	A	G	9: 49,077,561	Y709C	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
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'- CAGTCTTCTCCAGAGCTTAGAG -3'
(R):5'- CCAGTATTGTTAGGTGTCAGTAGTC -3'

Sequencing Primer
(F):5'- GCTTAGAGACTAGTCACAGCCTTG -3'
(R):5'- ATGTGAGTCTGATCCCAAGGC -3'

Posted On

2021-03-08