Mutagenetix > Incidental Mutation

Incidental Mutation 'R7481:Wdr82'

579818

Institutional Source

Beutler Lab

Gene Symbol

Wdr82

Ensembl Gene

ENSMUSG00000020257

Gene Name

WD repeat domain containing 82

Synonyms

9430077D24Rik

MMRRC Submission

045555-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R7481 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106048127-106068338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 106053865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 72 (T72I)

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: T72I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020490
Gene: ENSMUSG00000020257
AA Change: T72I

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

probably benign
Transcript: ENSMUST00000190564

Predicted Effect

probably benign
Transcript: ENSMUST00000214444

Predicted Effect

probably benign
Transcript: ENSMUST00000216761

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,494,575 (GRCm39)	F68S	unknown	Het
Abcb6	A	G	1: 75,150,248 (GRCm39)	F637L	probably damaging	Het
Aldh3b3	A	G	19: 4,014,549 (GRCm39)	M95V	probably benign	Het
Arhgap45	A	T	10: 79,858,134 (GRCm39)	H387L	possibly damaging	Het
Avil	C	T	10: 126,843,460 (GRCm39)	T130I	probably benign	Het
Bmal2	G	A	6: 146,720,369 (GRCm39)	A178T	not run	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
C3	C	A	17: 57,527,136 (GRCm39)	W771L	probably damaging	Het
C6	A	G	15: 4,844,357 (GRCm39)	I926M		Het
Cacna1b	G	A	2: 24,506,874 (GRCm39)	L1903F	probably damaging	Het
Car3	A	T	3: 14,928,632 (GRCm39)	M1L	probably benign	Het
Ccdc175	A	G	12: 72,202,398 (GRCm39)	I299T	probably benign	Het
Chd9	C	T	8: 91,683,066 (GRCm39)	T502I	unknown	Het
Clec4a1	G	A	6: 122,904,998 (GRCm39)	C99Y	probably damaging	Het
Col19a1	C	T	1: 24,356,788 (GRCm39)	G632R	probably damaging	Het
Dmbt1	A	T	7: 130,681,241 (GRCm39)		probably null	Het
Dop1a	A	T	9: 86,417,985 (GRCm39)	K1951N	probably damaging	Het
Dpf3	A	C	12: 83,378,701 (GRCm39)	L122R	probably damaging	Het
Edem3	A	T	1: 151,683,973 (GRCm39)	S687C	probably damaging	Het
Edem3	G	A	1: 151,683,974 (GRCm39)	S687N	possibly damaging	Het
Fig4	A	G	10: 41,106,001 (GRCm39)		probably null	Het
Fmnl2	A	G	2: 52,998,443 (GRCm39)	T603A	unknown	Het
Frmd6	T	A	12: 70,933,829 (GRCm39)	L249Q	probably damaging	Het
Glrx3	T	C	7: 137,046,751 (GRCm39)	C48R	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gm6133	A	T	18: 78,393,008 (GRCm39)	M1L	probably benign	Het
Gm9195	G	A	14: 72,720,116 (GRCm39)	T105I	probably benign	Het
Hk2	G	A	6: 82,737,150 (GRCm39)	T54I	probably benign	Het
Jade1	G	A	3: 41,559,125 (GRCm39)	G402D	probably benign	Het
Kmt2a	T	C	9: 44,720,368 (GRCm39)	D3873G	unknown	Het
Map6	A	T	7: 98,918,345 (GRCm39)	T373S	possibly damaging	Het
Megf9	T	C	4: 70,351,679 (GRCm39)	T481A	probably damaging	Het
Mtcl3	G	T	10: 29,072,519 (GRCm39)	V604L	probably damaging	Het
Mtus1	T	A	8: 41,537,652 (GRCm39)	K21N	probably damaging	Het
Muc5b	C	T	7: 141,414,908 (GRCm39)	T2618I	unknown	Het
Nbas	A	G	12: 13,406,960 (GRCm39)	I852M	probably damaging	Het
Or14j1	T	A	17: 38,146,289 (GRCm39)	M133K	probably damaging	Het
Or4a70	C	T	2: 89,324,636 (GRCm39)	V7I	probably benign	Het
Or5b121	A	T	19: 13,507,817 (GRCm39)	Q304L	probably damaging	Het
Or5d39	A	G	2: 87,980,105 (GRCm39)	I86T	probably benign	Het
Pank4	A	G	4: 155,054,495 (GRCm39)	N156S	probably damaging	Het
Pcdhga8	A	G	18: 37,860,990 (GRCm39)	E682G	probably benign	Het
Pde10a	C	A	17: 9,168,262 (GRCm39)	D312E	possibly damaging	Het
Pkhd1l1	A	G	15: 44,376,307 (GRCm39)	T990A	probably benign	Het
Rab11fip1	T	C	8: 27,646,609 (GRCm39)	T156A	probably damaging	Het
Rhbdd2	T	A	5: 135,665,031 (GRCm39)	S121T	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Ryr3	C	A	2: 112,508,438 (GRCm39)	R3418S	probably benign	Het
Ryr3	C	A	2: 112,508,439 (GRCm39)	R3418M	possibly damaging	Het
Sbno2	G	A	10: 79,893,333 (GRCm39)	P1323S	probably benign	Het
Sec24d	T	C	3: 123,144,412 (GRCm39)	C630R	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Skp2	A	T	15: 9,113,905 (GRCm39)	V371E	probably damaging	Het
Strbp	A	T	2: 37,490,766 (GRCm39)	S496R	probably benign	Het
Stxbp4	G	A	11: 90,485,639 (GRCm39)	T236I	possibly damaging	Het
Terf2	C	T	8: 107,799,353 (GRCm39)		probably null	Het
Thnsl1	A	T	2: 21,216,599 (GRCm39)	T118S	probably benign	Het
Tlnrd1	A	T	7: 83,531,546 (GRCm39)	V295E	probably damaging	Het
Ttll6	A	G	11: 96,045,672 (GRCm39)	T630A	probably benign	Het
Usp9y	G	T	Y: 1,432,180 (GRCm39)	A435E	probably benign	Het
Vil1	A	C	1: 74,459,058 (GRCm39)	R187S	probably damaging	Het
Vmn2r31	A	T	7: 7,387,579 (GRCm39)	V664E	possibly damaging	Het
Wdr17	T	C	8: 55,114,371 (GRCm39)	I693M	probably benign	Het
Zbtb5	A	G	4: 44,994,905 (GRCm39)	S160P	probably benign	Het
Zfat	G	A	15: 68,050,715 (GRCm39)	Q769*	probably null	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp937	T	A	2: 150,081,266 (GRCm39)	I432K	probably benign	Het
Zglp1	C	T	9: 20,973,903 (GRCm39)	S261N	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
IGL02604:Wdr82	APN	9	106,060,880 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- TTGGGGTTCACAAATGAAAGAC -3'
(R):5'- CTCAGCACTGCTAACATTACAG -3'

Sequencing Primer
(F):5'- TTGAGTGGTTAAGAGCTCACACCAC -3'
(R):5'- GCACTGCTAACATTACAGAGAAAC -3'

Posted On

2019-10-07