Mutagenetix > Incidental Mutation

Incidental Mutation 'R4727:Wdr33'

358571

Institutional Source

Beutler Lab

Gene Symbol

Wdr33

Ensembl Gene

ENSMUSG00000024400

Gene Name

WD repeat domain 33

Synonyms

8430413N20Rik, 2310011G05Rik, 2810021O11Rik, 1110001N06Rik, WDC146

MMRRC Submission

041602-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R4727 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31937143-32040450 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32021500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 683 (H683Q)

Ref Sequence

ENSEMBL: ENSMUSP00000025264 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025264]

AlphaFold

Q8K4P0

Predicted Effect

unknown
Transcript: ENSMUST00000025264
AA Change: H683Q

SMART Domains

Protein: ENSMUSP00000025264
Gene: ENSMUSG00000024400
AA Change: H683Q

Domain	Start	End	E-Value	Type
WD40	107	147	2.15e-1	SMART
WD40	150	189	5.77e-5	SMART
WD40	191	230	1.89e-9	SMART
WD40	233	274	2.59e-7	SMART
WD40	277	316	2.73e-6	SMART
WD40	320	360	1.71e-7	SMART
WD40	364	403	1.52e-4	SMART
low complexity region	481	499	N/A	INTRINSIC
coiled coil region	531	559	N/A	INTRINSIC
low complexity region	573	587	N/A	INTRINSIC
low complexity region	608	624	N/A	INTRINSIC
low complexity region	628	668	N/A	INTRINSIC
low complexity region	679	722	N/A	INTRINSIC
low complexity region	725	761	N/A	INTRINSIC
internal_repeat_1	778	803	3.47e-9	PROSPERO
low complexity region	806	818	N/A	INTRINSIC
internal_repeat_1	821	845	3.47e-9	PROSPERO
low complexity region	848	881	N/A	INTRINSIC
low complexity region	920	935	N/A	INTRINSIC
low complexity region	938	951	N/A	INTRINSIC
low complexity region	1000	1018	N/A	INTRINSIC
low complexity region	1041	1049	N/A	INTRINSIC
low complexity region	1057	1100	N/A	INTRINSIC
low complexity region	1137	1154	N/A	INTRINSIC
low complexity region	1190	1207	N/A	INTRINSIC
low complexity region	1251	1262	N/A	INTRINSIC
low complexity region	1287	1330	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is highly expressed in testis and the protein is localized to the nucleus. This gene may play important roles in the mechanisms of cytodifferentiation and/or DNA recombination. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,062,489 (GRCm39)	N483S	probably benign	Het
Acoxl	T	G	2: 127,820,658 (GRCm39)	L70R	probably damaging	Het
Ankrd44	A	T	1: 54,706,576 (GRCm39)	F627I	probably benign	Het
Ash2l	A	T	8: 26,308,623 (GRCm39)	I552N	probably damaging	Het
B4galt1	A	G	4: 40,807,812 (GRCm39)	S330P	probably damaging	Het
Bnip3	T	C	7: 138,500,435 (GRCm39)	S52G	probably damaging	Het
Btd	A	G	14: 31,384,278 (GRCm39)	Q88R	probably benign	Het
C4bp	A	G	1: 130,566,922 (GRCm39)	V318A	probably benign	Het
Cacna1e	G	A	1: 154,312,214 (GRCm39)	Q1530*	probably null	Het
Calm1	T	C	12: 100,166,485 (GRCm39)	F23S	probably benign	Het
Cep290	T	G	10: 100,399,132 (GRCm39)	I2218R	probably benign	Het
Ces2c	T	C	8: 105,574,672 (GRCm39)	I43T	probably benign	Het
Cyp2d9	T	C	15: 82,338,602 (GRCm39)	L1P	probably null	Het
Dgki	C	A	6: 37,276,748 (GRCm39)		probably benign	Het
Dhh	A	G	15: 98,796,023 (GRCm39)	L44P	probably damaging	Het
Dnah12	A	G	14: 26,594,274 (GRCm39)	I3409V	probably damaging	Het
Dnah7b	G	A	1: 46,246,816 (GRCm39)	R1664H	probably damaging	Het
Dnah8	T	C	17: 31,070,721 (GRCm39)	M4469T	probably damaging	Het
Ehhadh	T	C	16: 21,581,181 (GRCm39)	I604V	probably benign	Het
Esr1	A	G	10: 4,951,418 (GRCm39)	I599V	probably benign	Het
Faf1	G	A	4: 109,697,564 (GRCm39)	D297N	probably damaging	Het
Gfra1	A	T	19: 58,252,386 (GRCm39)	N380K	probably damaging	Het
Ghitm	A	G	14: 36,855,700 (GRCm39)	C8R	probably damaging	Het
Ifna4	C	A	4: 88,760,519 (GRCm39)	T141K	probably benign	Het
Itsn2	A	G	12: 4,757,660 (GRCm39)	Y1424C	probably damaging	Het
Kcnj10	A	G	1: 172,197,266 (GRCm39)	D260G	probably damaging	Het
Klf16	T	C	10: 80,405,020 (GRCm39)	D164G	probably damaging	Het
Klhdc7b	T	A	15: 89,271,785 (GRCm39)	L889Q	probably damaging	Het
Lcmt2	C	G	2: 120,969,911 (GRCm39)	V171L	probably benign	Het
Lrp11	A	G	10: 7,466,348 (GRCm39)	E153G	probably benign	Het
Lrrc43	A	T	5: 123,632,366 (GRCm39)	T170S	probably damaging	Het
Lsr	T	C	7: 30,665,465 (GRCm39)	Y163C	probably damaging	Het
Man1a	A	T	10: 53,783,668 (GRCm39)		probably null	Het
Mmp24	C	T	2: 155,657,819 (GRCm39)	P570S	possibly damaging	Het
Ms4a3	A	G	19: 11,608,742 (GRCm39)	M170T	probably damaging	Het
Naip5	C	A	13: 100,358,378 (GRCm39)	A953S	possibly damaging	Het
Nfrkb	T	C	9: 31,314,919 (GRCm39)	S580P	probably damaging	Het
Or51q1c	T	G	7: 103,653,097 (GRCm39)	V205G	probably benign	Het
Or8b38	T	C	9: 37,973,389 (GRCm39)	Y258H	probably damaging	Het
Padi6	T	G	4: 140,458,506 (GRCm39)	D462A	probably damaging	Het
Pde6a	A	G	18: 61,364,561 (GRCm39)	R206G	probably benign	Het
Plk4	A	G	3: 40,759,589 (GRCm39)	N162D	probably benign	Het
Ptpn13	T	A	5: 103,717,721 (GRCm39)	D1922E	probably benign	Het
Rangap1	G	A	15: 81,613,956 (GRCm39)		probably benign	Het
Rapgef3	A	G	15: 97,658,481 (GRCm39)	L175P	probably damaging	Het
Rps6kb1	G	C	11: 86,435,484 (GRCm39)		probably null	Het
Satb1	T	C	17: 52,111,375 (GRCm39)	Y161C	probably damaging	Het
Sel1l3	C	A	5: 53,301,525 (GRCm39)		probably null	Het
Slc17a7	C	T	7: 44,822,358 (GRCm39)	S398L	possibly damaging	Het
Slc22a4	T	A	11: 53,918,477 (GRCm39)	E109V	possibly damaging	Het
Slc26a7	C	T	4: 14,590,477 (GRCm39)	A105T	probably damaging	Het
Slc47a1	T	C	11: 61,254,277 (GRCm39)	N145S	possibly damaging	Het
Tank	A	G	2: 61,483,876 (GRCm39)	T441A	probably benign	Het
Tefm	T	C	11: 80,031,279 (GRCm39)		probably benign	Het
Ttbk2	T	C	2: 120,575,851 (GRCm39)	Y1042C	probably benign	Het
Wdfy3	T	C	5: 102,077,894 (GRCm39)	Q892R	probably damaging	Het
Zfp36l2	T	A	17: 84,495,089 (GRCm39)	I12F	probably benign	Het
Zfyve26	A	T	12: 79,291,170 (GRCm39)	M2145K	probably benign	Het

Other mutations in Wdr33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00737:Wdr33	APN	18	32,011,169 (GRCm39)	missense	probably damaging	1.00
IGL01099:Wdr33	APN	18	32,039,842 (GRCm39)	unclassified	probably benign
IGL01628:Wdr33	APN	18	32,021,363 (GRCm39)	missense	unknown
IGL03296:Wdr33	APN	18	31,960,444 (GRCm39)	missense	probably benign	0.03
R0103:Wdr33	UTSW	18	31,966,388 (GRCm39)	missense	probably damaging	1.00
R0279:Wdr33	UTSW	18	32,021,377 (GRCm39)	missense	unknown
R0563:Wdr33	UTSW	18	32,019,792 (GRCm39)	missense	possibly damaging	0.94
R0730:Wdr33	UTSW	18	31,968,429 (GRCm39)	splice site	probably benign
R1077:Wdr33	UTSW	18	31,968,514 (GRCm39)	missense	probably benign	0.03
R1377:Wdr33	UTSW	18	32,021,694 (GRCm39)	missense	unknown
R1712:Wdr33	UTSW	18	32,029,684 (GRCm39)	missense	unknown
R1855:Wdr33	UTSW	18	32,039,909 (GRCm39)	unclassified	probably benign
R2013:Wdr33	UTSW	18	32,022,029 (GRCm39)	missense	unknown
R2014:Wdr33	UTSW	18	31,966,652 (GRCm39)	missense	probably damaging	1.00
R4497:Wdr33	UTSW	18	32,026,132 (GRCm39)	missense	unknown
R4739:Wdr33	UTSW	18	32,019,139 (GRCm39)	missense	probably benign	0.17
R4777:Wdr33	UTSW	18	32,014,301 (GRCm39)	missense	probably damaging	1.00
R4907:Wdr33	UTSW	18	32,040,046 (GRCm39)	makesense	probably null
R5811:Wdr33	UTSW	18	32,035,673 (GRCm39)	missense	unknown
R6053:Wdr33	UTSW	18	32,011,116 (GRCm39)	missense	possibly damaging	0.93
R6454:Wdr33	UTSW	18	31,963,028 (GRCm39)	missense	possibly damaging	0.47
R7112:Wdr33	UTSW	18	32,026,056 (GRCm39)	missense	unknown
R7369:Wdr33	UTSW	18	32,019,719 (GRCm39)	missense	probably benign	0.00
R7519:Wdr33	UTSW	18	32,029,823 (GRCm39)	missense	unknown
R8278:Wdr33	UTSW	18	31,960,405 (GRCm39)	missense	possibly damaging	0.59
R8558:Wdr33	UTSW	18	31,962,947 (GRCm39)	missense	probably benign	0.10
R8952:Wdr33	UTSW	18	31,960,393 (GRCm39)	missense	possibly damaging	0.61
R8994:Wdr33	UTSW	18	31,960,459 (GRCm39)	missense	probably benign	0.02
R9586:Wdr33	UTSW	18	31,966,669 (GRCm39)	missense	probably damaging	1.00
R9775:Wdr33	UTSW	18	32,037,406 (GRCm39)	missense	unknown
RF014:Wdr33	UTSW	18	32,014,326 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCTCAGCAGATGCCATTGGTG -3'
(R):5'- CCTGCATTCCTTGAGTACCG -3'

Sequencing Primer
(F):5'- CAGATGCCATTGGTGCCTCAAATG -3'
(R):5'- CATTCCTTGAGTACCGGGTGGAC -3'

Posted On

2015-11-11