Mutagenetix > Incidental Mutation

Incidental Mutation 'R8353:Wdr27'

645652

Institutional Source

Beutler Lab

Gene Symbol

Wdr27

Ensembl Gene

ENSMUSG00000046991

Gene Name

WD repeat domain 27

Synonyms

0610012K18Rik

MMRRC Submission

067805-MU

Accession Numbers

Essential gene?

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

Stock #

R8353 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15038781-15163420 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15112751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 652 (T652A)

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: T652A

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000126736
Gene: ENSMUSG00000046991
AA Change: T652A

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: T652A

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000232147
AA Change: T652A

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.2113

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	G	T	9: 101,815,884 (GRCm39)	C23F	possibly damaging	Het
Adam29	T	C	8: 56,326,196 (GRCm39)	H86R	possibly damaging	Het
Alas1	C	T	9: 106,113,721 (GRCm39)	R508Q	possibly damaging	Het
Albfm1	A	T	5: 90,714,360 (GRCm39)	R123S	possibly damaging	Het
Ark2n	T	C	18: 77,761,604 (GRCm39)	E236G	probably damaging	Het
Bmp3	G	A	5: 99,003,282 (GRCm39)		probably null	Het
Bud13	A	G	9: 46,199,499 (GRCm39)	T287A	probably benign	Het
C3	T	C	17: 57,519,643 (GRCm39)	E1203G	probably benign	Het
Carmil2	A	C	8: 106,416,843 (GRCm39)	Q476P	probably damaging	Het
Ccdc187	T	A	2: 26,166,458 (GRCm39)	T707S	probably damaging	Het
Cfap43	A	T	19: 47,735,086 (GRCm39)	V1435E	probably damaging	Het
Chrm3	A	T	13: 9,927,267 (GRCm39)	*590K	probably null	Het
Commd1	C	T	11: 22,928,503 (GRCm39)		probably benign	Het
Creb3l1	A	T	2: 91,821,274 (GRCm39)	Y314*	probably null	Het
Ctc1	T	A	11: 68,913,275 (GRCm39)	S90R	probably benign	Het
Dixdc1	T	C	9: 50,596,186 (GRCm39)	Q413R	probably benign	Het
Dlg5	T	C	14: 24,208,213 (GRCm39)	T998A	probably benign	Het
Dnai4	A	G	4: 102,917,113 (GRCm39)	I577T	possibly damaging	Het
Eif1ad14	C	T	12: 87,886,323 (GRCm39)	S102N	probably benign	Het
Fam89b	A	G	19: 5,778,903 (GRCm39)	S99P	possibly damaging	Het
Fbxo30	A	G	10: 11,166,479 (GRCm39)	I400M	probably benign	Het
Gad1	A	T	2: 70,431,057 (GRCm39)	M567L	probably benign	Het
Gemin5	T	C	11: 58,016,065 (GRCm39)	S1314G	probably benign	Het
Gm9195	T	G	14: 72,678,201 (GRCm39)	I2323L	probably benign	Het
Gria1	T	A	11: 57,133,877 (GRCm39)	F585L	probably damaging	Het
Hbs1l	A	T	10: 21,185,178 (GRCm39)	H200L	probably benign	Het
Igsf5	A	G	16: 96,222,996 (GRCm39)	Q360R	probably benign	Het
Il31ra	A	T	13: 112,660,717 (GRCm39)	V624E	probably damaging	Het
Iqsec3	T	C	6: 121,364,779 (GRCm39)	R837G	probably damaging	Het
Itprid2	T	C	2: 79,475,129 (GRCm39)	S363P	probably benign	Het
Lpl	A	G	8: 69,348,433 (GRCm39)	I221V	probably damaging	Het
Mink1	T	A	11: 70,501,154 (GRCm39)	D887E	possibly damaging	Het
Mmp10	T	G	9: 7,508,203 (GRCm39)	F443C	probably damaging	Het
Mmrn1	T	A	6: 60,965,361 (GRCm39)	Y1131N	probably damaging	Het
Mrc2	T	A	11: 105,223,137 (GRCm39)	V460E	probably damaging	Het
Nicn1	T	A	9: 108,170,572 (GRCm39)	F57Y	probably damaging	Het
Nlrp4b	A	G	7: 10,449,528 (GRCm39)	Y577C	probably damaging	Het
Nrap	T	C	19: 56,312,352 (GRCm39)	T1535A	probably damaging	Het
Opa1	G	A	16: 29,439,686 (GRCm39)	R755H	probably damaging	Het
Phldb2	A	G	16: 45,645,385 (GRCm39)	S354P	probably benign	Het
Phykpl	T	C	11: 51,489,121 (GRCm39)	S316P	probably damaging	Het
Pnpla1	T	A	17: 29,077,873 (GRCm39)	D11E	probably benign	Het
Pold2	A	G	11: 5,825,104 (GRCm39)	F98L	probably damaging	Het
Prph	G	A	15: 98,954,657 (GRCm39)	R241Q	probably benign	Het
Rcl1	T	C	19: 29,093,159 (GRCm39)	I58T	possibly damaging	Het
Rps6ka2	A	G	17: 7,514,151 (GRCm39)	N117D	probably benign	Het
Sars1	G	A	3: 108,336,029 (GRCm39)	S331L	probably benign	Het
Scfd1	A	C	12: 51,459,374 (GRCm39)	K312Q	possibly damaging	Het
Senp5	A	G	16: 31,808,166 (GRCm39)	C363R	probably benign	Het
Senp7	A	G	16: 56,008,691 (GRCm39)	I1024V	probably damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sptbn4	A	G	7: 27,103,663 (GRCm39)	L1191P	probably damaging	Het
Stk40	A	G	4: 126,022,766 (GRCm39)	E180G	probably damaging	Het
Stxbp5	A	T	10: 9,684,792 (GRCm39)	V536E	probably benign	Het
Tex15	G	T	8: 34,066,899 (GRCm39)	E2110*	probably null	Het
Thbs4	G	A	13: 92,927,325 (GRCm39)	P55S	probably benign	Het
Tmem115	T	C	9: 107,411,997 (GRCm39)	V107A	probably benign	Het
Tnfaip6	A	C	2: 51,945,879 (GRCm39)	I242L	probably benign	Het
Trabd	G	T	15: 88,969,616 (GRCm39)	A270S	possibly damaging	Het
Trim30d	T	A	7: 104,136,947 (GRCm39)	I86F	probably damaging	Het
Trpc7	A	G	13: 56,970,372 (GRCm39)	V404A	probably benign	Het
Vmn1r61	A	G	7: 5,613,886 (GRCm39)	Y143H	probably benign	Het
Vmn2r18	T	A	5: 151,485,373 (GRCm39)	D707V	probably damaging	Het
Vnn3	G	A	10: 23,745,443 (GRCm39)	R464H	probably benign	Het
Yeats2	C	T	16: 20,041,637 (GRCm39)	R1176*	probably null	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
IGL02892:Wdr27	APN	17	15,096,438 (GRCm39)	missense	possibly damaging	0.95
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
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

Predicted Primers

PCR Primer
(F):5'- GAGAACCATTCATCCGACCTTTATGTC -3'
(R):5'- TTCCTGGCTGAAGATGACGG -3'

Sequencing Primer
(F):5'- TGTCCAGCATGACACCTCG -3'
(R):5'- GGCCTATCCCAGAAGCTATGTTG -3'

Posted On

2020-09-02