Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02892:Wdr27'

363232

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr27

Ensembl Gene

ENSMUSG00000046991

Gene Name

WD repeat domain 27

Synonyms

0610012K18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

IGL02892

Quality Score

Status

Chromosome

Chromosomal Location

15038781-15163420 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15096438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 748 (W748R)

Ref Sequence

ENSEMBL: ENSMUSP00000153717 (fasta)

Gene Model

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

AlphaFold

Q8C5V5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170386
AA Change: W748R

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126736
Gene: ENSMUSG00000046991
AA Change: W748R

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

possibly damaging
Transcript: ENSMUST00000228330
AA Change: W748R

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232147
AA Change: M782K

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	A	T	12: 84,651,771 (GRCm39)	L493*	probably null	Het
Adam32	T	A	8: 25,368,727 (GRCm39)		probably benign	Het
Alpk1	T	C	3: 127,473,771 (GRCm39)	D744G	possibly damaging	Het
Arhgef12	A	G	9: 42,912,268 (GRCm39)	V530A	possibly damaging	Het
Baz2b	A	T	2: 59,731,080 (GRCm39)	N2095K	probably damaging	Het
Btnl2	A	T	17: 34,581,642 (GRCm39)	Q240L	possibly damaging	Het
Cd96	T	C	16: 45,870,160 (GRCm39)		probably null	Het
Cep350	G	A	1: 155,744,552 (GRCm39)	T2089I	possibly damaging	Het
Chd9	T	C	8: 91,703,543 (GRCm39)		probably benign	Het
Cib4	C	T	5: 30,702,051 (GRCm39)		probably benign	Het
Cilp2	T	C	8: 70,336,970 (GRCm39)	T280A	probably benign	Het
Coq5	T	A	5: 115,432,876 (GRCm39)		probably benign	Het
Cyth3	A	G	5: 143,693,192 (GRCm39)	I339V	possibly damaging	Het
Dcaf7	T	C	11: 105,937,518 (GRCm39)	V47A	possibly damaging	Het
Dcdc2c	A	G	12: 28,585,544 (GRCm39)	I151T	probably benign	Het
Defb7	T	A	8: 19,547,678 (GRCm39)	F61Y	probably benign	Het
Diaph3	T	A	14: 87,104,066 (GRCm39)	K773*	probably null	Het
Dmxl1	A	G	18: 49,992,187 (GRCm39)	N311S	probably damaging	Het
Dnah7b	G	A	1: 46,158,458 (GRCm39)	R347H	possibly damaging	Het
Egflam	C	T	15: 7,319,277 (GRCm39)	V234I	probably benign	Het
Emilin3	C	T	2: 160,751,069 (GRCm39)	V180M	possibly damaging	Het
Fam76b	A	T	9: 13,740,117 (GRCm39)	E50V	probably null	Het
Fat3	A	T	9: 16,288,858 (GRCm39)	Y222N	probably damaging	Het
Grm7	A	G	6: 111,230,981 (GRCm39)	N468S	probably damaging	Het
Gucy1a2	G	T	9: 3,634,471 (GRCm39)	G172C	probably damaging	Het
Hmcn1	A	C	1: 150,551,725 (GRCm39)		probably null	Het
Hydin	G	A	8: 111,325,591 (GRCm39)	V4667M	possibly damaging	Het
Idh2	T	C	7: 79,745,418 (GRCm39)	S408G	probably benign	Het
Kcng4	T	C	8: 120,359,821 (GRCm39)	Q185R	probably benign	Het
Lamp3	A	G	16: 19,494,802 (GRCm39)	V301A	probably damaging	Het
Lrrc23	T	C	6: 124,751,399 (GRCm39)	N220S	probably benign	Het
Lrrc41	T	A	4: 115,946,032 (GRCm39)	M249K	possibly damaging	Het
Ltbp4	T	A	7: 27,010,074 (GRCm39)	D1162V	probably damaging	Het
Mlh1	T	C	9: 111,082,037 (GRCm39)	I229V	probably benign	Het
Or1o11	T	C	17: 37,756,925 (GRCm39)	L160P	probably damaging	Het
Pgap6	A	G	17: 26,338,094 (GRCm39)	Y466C	probably damaging	Het
Plekhg2	T	A	7: 28,062,342 (GRCm39)	D525V	probably damaging	Het
Plin4	T	C	17: 56,412,108 (GRCm39)	K641R	probably damaging	Het
Plxnb2	A	G	15: 89,045,425 (GRCm39)		probably null	Het
Polr1a	T	C	6: 71,908,680 (GRCm39)	S502P	possibly damaging	Het
Prss16	A	G	13: 22,187,220 (GRCm39)	V450A	probably benign	Het
Prss42	G	A	9: 110,628,458 (GRCm39)	V201M	probably damaging	Het
Pus7	A	T	5: 23,959,554 (GRCm39)	N322K	probably damaging	Het
Riok1	G	T	13: 38,224,041 (GRCm39)		probably benign	Het
Rmdn3	T	A	2: 118,984,561 (GRCm39)	T64S	probably benign	Het
Rmnd5a	T	A	6: 71,391,798 (GRCm39)	M131L	probably benign	Het
Rtbdn	C	T	8: 85,681,718 (GRCm39)	R170C	probably damaging	Het
Sesn3	T	C	9: 14,226,030 (GRCm39)		probably null	Het
Slc2a6	A	G	2: 26,914,305 (GRCm39)	Y271H	probably benign	Het
Slc5a5	T	G	8: 71,345,161 (GRCm39)	T49P	probably damaging	Het
Slc7a10	T	C	7: 34,894,593 (GRCm39)	V84A	possibly damaging	Het
Slc9a4	A	G	1: 40,623,204 (GRCm39)	T148A	possibly damaging	Het
Smg1	T	A	7: 117,767,178 (GRCm39)		probably benign	Het
Snx19	T	A	9: 30,339,660 (GRCm39)	V266E	probably damaging	Het
Synm	T	A	7: 67,384,804 (GRCm39)	I511F	probably damaging	Het
Tango6	T	A	8: 107,468,642 (GRCm39)		probably benign	Het
Tie1	T	A	4: 118,343,479 (GRCm39)	D128V	probably damaging	Het
Timeless	T	C	10: 128,080,120 (GRCm39)	L423P	probably damaging	Het
Tln1	A	G	4: 43,555,679 (GRCm39)	L145P	probably damaging	Het
Trp53i13	A	T	11: 77,399,121 (GRCm39)	D376E	probably damaging	Het
Ubr4	A	T	4: 139,144,642 (GRCm39)	I1484F	probably damaging	Het
Unc13a	C	T	8: 72,102,554 (GRCm39)	V943M	probably damaging	Het
Usp50	T	C	2: 126,611,822 (GRCm39)	K301R	probably damaging	Het
Vmn1r62	G	T	7: 5,679,202 (GRCm39)	M294I	probably benign	Het
Vps39	A	G	2: 120,153,652 (GRCm39)		probably benign	Het
Vwa8	T	A	14: 79,341,140 (GRCm39)		probably benign	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
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
R4577:Wdr27	UTSW	17	15,123,724 (GRCm39)	missense	probably benign	0.00
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

Posted On

2015-12-18