Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02604:Wdr82'

300193

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr82

Ensembl Gene

ENSMUSG00000020257

Gene Name

WD repeat domain containing 82

Synonyms

9430077D24Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

IGL02604

Quality Score

Status

Chromosome

Chromosomal Location

106048127-106068338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106060880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 131 (I131T)

Ref Sequence

ENSEMBL: ENSMUSP00000020490 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020490] [ENSMUST00000190564] [ENSMUST00000214444] [ENSMUST00000216761]

AlphaFold

Q8BFQ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000020490
AA Change: I131T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020490
Gene: ENSMUSG00000020257
AA Change: I131T

Domain	Start	End	E-Value	Type
WD40	10	49	9.52e-6	SMART
WD40	96	135	3.47e-8	SMART
WD40	138	175	4.11e1	SMART
WD40	180	222	2.75e1	SMART
WD40	225	267	2.49e-1	SMART
WD40	270	308	1.33e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083506

Predicted Effect

probably benign
Transcript: ENSMUST00000190564

Predicted Effect

probably benign
Transcript: ENSMUST00000214444

Predicted Effect

probably benign
Transcript: ENSMUST00000216761

Predicted Effect

unknown
Transcript: ENSMUST00000217532
AA Change: F56L

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TMEM113 (WDR82) is a component of the mammalian SET1A (MIM 611052)/SET1B (MIM 611055) histone H3-Lys4 methyltransferase complexes (Lee and Skalnik, 2005 [PubMed 16253997]; Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,878,845 (GRCm39)	V61A	probably benign	Het
Arfgef1	G	A	1: 10,251,275 (GRCm39)		probably benign	Het
Arhgef4	T	A	1: 34,850,804 (GRCm39)	L594*	probably null	Het
Cacna2d3	T	C	14: 29,015,066 (GRCm39)	T375A	possibly damaging	Het
Calb2	A	C	8: 110,875,160 (GRCm39)	Y155D	probably damaging	Het
Camkmt	A	G	17: 85,404,053 (GRCm39)	T92A	possibly damaging	Het
Cfap91	A	G	16: 38,141,921 (GRCm39)		probably benign	Het
Chsy3	A	G	18: 59,542,187 (GRCm39)	S442G	probably benign	Het
Cyp4f13	T	C	17: 33,151,395 (GRCm39)	I173V	probably benign	Het
Dapk1	A	G	13: 60,896,134 (GRCm39)	T741A	probably benign	Het
Dennd3	T	C	15: 73,428,252 (GRCm39)	I866T	probably damaging	Het
Dhrs2	A	T	14: 55,474,778 (GRCm39)	I138F	possibly damaging	Het
Dscaml1	C	T	9: 45,655,626 (GRCm39)		probably benign	Het
Fsbp	A	G	4: 11,584,147 (GRCm39)	E282G	probably damaging	Het
Hpgds	A	T	6: 65,100,594 (GRCm39)	L128Q	probably damaging	Het
Hspa9	A	G	18: 35,087,266 (GRCm39)	V13A	unknown	Het
Itgb3	A	G	11: 104,553,269 (GRCm39)	E709G	probably damaging	Het
Jarid2	T	C	13: 45,027,877 (GRCm39)	S148P	probably damaging	Het
Kcna6	C	T	6: 126,716,167 (GRCm39)	G241R	probably benign	Het
Kdm5a	T	A	6: 120,408,941 (GRCm39)	N1541K	probably benign	Het
Kel	C	A	6: 41,664,516 (GRCm39)	E640D	probably damaging	Het
Lcp1	A	T	14: 75,461,566 (GRCm39)	I520F	probably benign	Het
Lgr4	A	G	2: 109,841,658 (GRCm39)	I524V	probably damaging	Het
Mup20	A	C	4: 61,970,141 (GRCm39)	Y139D	probably damaging	Het
Notch4	T	C	17: 34,784,362 (GRCm39)		probably null	Het
Obox7	A	G	7: 14,399,293 (GRCm39)	E173G	probably benign	Het
Or10a49	T	A	7: 108,467,857 (GRCm39)	Y168F	probably benign	Het
Or2a25	T	A	6: 42,888,992 (GRCm39)	C178*	probably null	Het
Or5w22	A	T	2: 87,362,949 (GRCm39)	T191S	probably damaging	Het
Or8b40	C	T	9: 38,027,148 (GRCm39)	Q19*	probably null	Het
Or9i1	T	A	19: 13,839,170 (GRCm39)	N4K	probably benign	Het
Patl2	T	G	2: 121,955,814 (GRCm39)	T241P	possibly damaging	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Plekhg6	T	C	6: 125,354,342 (GRCm39)		probably benign	Het
Pon1	C	A	6: 5,168,375 (GRCm39)	G344V	probably damaging	Het
Ppp1r21	G	T	17: 88,880,171 (GRCm39)	K529N	probably benign	Het
Prdm15	A	G	16: 97,623,142 (GRCm39)	S203P	probably benign	Het
Psmc2	T	A	5: 22,000,098 (GRCm39)		probably null	Het
Ptn	T	C	6: 36,692,653 (GRCm39)	M166V	unknown	Het
Ptpn13	A	G	5: 103,649,769 (GRCm39)	N391D	probably benign	Het
Rnf214	A	G	9: 45,780,841 (GRCm39)	S383P	probably damaging	Het
Rufy4	T	A	1: 74,173,348 (GRCm39)	L438H	probably damaging	Het
Scarf2	A	G	16: 17,621,608 (GRCm39)	T353A	probably damaging	Het
Serpinb9e	A	C	13: 33,441,742 (GRCm39)	I225L	probably benign	Het
Slc25a40	T	C	5: 8,503,219 (GRCm39)	V312A	probably benign	Het
Tmc3	A	G	7: 83,271,827 (GRCm39)	Y993C	possibly damaging	Het
Trim56	A	C	5: 137,141,930 (GRCm39)	C529G	probably damaging	Het
Trim8	T	C	19: 46,503,917 (GRCm39)	S490P	probably damaging	Het
Trmt6	A	T	2: 132,652,357 (GRCm39)	Y147*	probably null	Het
Vmn2r109	T	A	17: 20,760,963 (GRCm39)	H798L	probably damaging	Het
Vps35	A	G	8: 86,013,018 (GRCm39)	L153P	probably damaging	Het
Zfp69	A	T	4: 120,788,660 (GRCm39)	D218E	probably benign	Het

Other mutations in Wdr82

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Wdr82	APN	9	106,061,449 (GRCm39)	missense	probably benign	0.19
IGL02135:Wdr82	APN	9	106,048,443 (GRCm39)	missense	possibly damaging	0.94
IGL02627:Wdr82	APN	9	106,053,886 (GRCm39)	missense	possibly damaging	0.72
IGL03181:Wdr82	APN	9	106,063,614 (GRCm39)	missense	probably benign	0.00
R0844:Wdr82	UTSW	9	106,065,780 (GRCm39)	unclassified	probably benign
R5867:Wdr82	UTSW	9	106,062,503 (GRCm39)	missense	probably benign	0.00
R5869:Wdr82	UTSW	9	106,062,503 (GRCm39)	missense	probably benign	0.00
R7136:Wdr82	UTSW	9	106,048,532 (GRCm39)	missense	probably benign	0.07
R7228:Wdr82	UTSW	9	106,053,871 (GRCm39)	missense	probably benign
R7481:Wdr82	UTSW	9	106,053,865 (GRCm39)	missense	probably damaging	0.98
R8826:Wdr82	UTSW	9	106,061,975 (GRCm39)	missense	probably benign	0.29
R8964:Wdr82	UTSW	9	106,053,861 (GRCm39)	missense	possibly damaging	0.66
Z1088:Wdr82	UTSW	9	106,061,999 (GRCm39)	missense	probably benign

Posted On

2015-04-16