Mutagenetix > Incidental Mutation

Incidental Mutation 'R1712:Wdr33'

190722

Institutional Source

Beutler Lab

Gene Symbol

Wdr33

Ensembl Gene

ENSMUSG00000024400

Gene Name

WD repeat domain 33

Synonyms

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

MMRRC Submission

039745-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R1712 (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 32029684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 961 (L961Q)

Ref Sequence

ENSEMBL: ENSMUSP00000025264 (fasta)

Gene Model

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

AlphaFold

Q8K4P0

Predicted Effect

unknown
Transcript: ENSMUST00000025264
AA Change: L961Q

SMART Domains

Protein: ENSMUSP00000025264
Gene: ENSMUSG00000024400
AA Change: L961Q

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	A	2: 93,678,448 (GRCm39)	E12D	probably damaging	Het
Ahnak2	C	A	12: 112,748,998 (GRCm39)	R283L	probably benign	Het
BC005624	T	C	2: 30,864,020 (GRCm39)	E191G	probably damaging	Het
C1galt1	A	G	6: 7,871,217 (GRCm39)	N351S	probably benign	Het
Ccdc162	T	C	10: 41,415,427 (GRCm39)	R2179G	probably benign	Het
Ccdc88c	G	A	12: 100,905,284 (GRCm39)	T1108M	probably benign	Het
Cd47	T	C	16: 49,714,543 (GRCm39)	L184P	probably damaging	Het
Cdc40	T	C	10: 40,717,372 (GRCm39)	K440E	probably damaging	Het
Cenpe	G	A	3: 134,971,694 (GRCm39)	V2262I	probably damaging	Het
Cep290	A	G	10: 100,390,361 (GRCm39)	K2035E	probably benign	Het
Cks1brt	G	T	8: 85,898,172 (GRCm39)	L8F	probably benign	Het
Col17a1	T	C	19: 47,637,442 (GRCm39)		probably benign	Het
Coro6	A	T	11: 77,360,293 (GRCm39)	N421I	probably benign	Het
Cps1	T	C	1: 67,269,440 (GRCm39)	S1480P	probably damaging	Het
Csrnp3	G	T	2: 65,832,826 (GRCm39)	A110S	probably damaging	Het
Cyp2d10	G	T	15: 82,287,240 (GRCm39)	T461K	probably damaging	Het
Dmxl2	A	G	9: 54,308,769 (GRCm39)	V1994A	probably benign	Het
Dnah11	T	A	12: 118,160,379 (GRCm39)	N117I	probably benign	Het
Dnajc3	A	G	14: 119,195,307 (GRCm39)	Y74C	probably damaging	Het
Fam13c	T	A	10: 70,390,403 (GRCm39)	F555I	possibly damaging	Het
Fbn1	T	A	2: 125,188,354 (GRCm39)	D1495V	probably damaging	Het
Fbrsl1	T	C	5: 110,595,862 (GRCm39)	T58A	probably benign	Het
Gjd3	A	G	11: 102,691,706 (GRCm39)	I99T	possibly damaging	Het
Glce	T	C	9: 61,977,857 (GRCm39)	N9S	probably damaging	Het
Gosr1	T	C	11: 76,641,704 (GRCm39)	T125A	possibly damaging	Het
Ifi27l2a	T	A	12: 103,406,202 (GRCm39)		probably null	Het
Jph1	C	T	1: 17,167,456 (GRCm39)	D125N	possibly damaging	Het
Kbtbd12	A	T	6: 88,595,676 (GRCm39)	S51R	probably damaging	Het
Klra9	A	T	6: 130,166,659 (GRCm39)		probably null	Het
Kmo	A	T	1: 175,484,289 (GRCm39)	M340L	probably benign	Het
Lama1	T	C	17: 68,024,181 (GRCm39)	I93T	possibly damaging	Het
Limk2	A	T	11: 3,308,104 (GRCm39)		probably null	Het
Mgat5	C	A	1: 127,248,375 (GRCm39)	N92K	probably benign	Het
Mib2	T	A	4: 155,739,256 (GRCm39)	I908F	probably damaging	Het
Mical1	T	G	10: 41,356,359 (GRCm39)	L304R	probably damaging	Het
Mtbp	G	T	15: 55,434,690 (GRCm39)		probably null	Het
Myo3a	T	C	2: 22,455,004 (GRCm39)	Y70H	probably damaging	Het
Neb	T	C	2: 52,133,401 (GRCm39)	Y3379C	probably damaging	Het
Neurod2	G	T	11: 98,218,029 (GRCm39)	N378K	probably damaging	Het
Oog4	G	A	4: 143,166,484 (GRCm39)	L107F	probably damaging	Het
Or2g25	A	G	17: 37,970,799 (GRCm39)	S142P	probably benign	Het
Or4k40	T	A	2: 111,251,003 (GRCm39)	M98L	probably benign	Het
Or6x1	A	G	9: 40,099,161 (GRCm39)	Y250C	probably damaging	Het
Or8k20	T	A	2: 86,106,337 (GRCm39)	T165S	probably damaging	Het
Pfdn6	T	C	17: 34,158,528 (GRCm39)	Y82C	probably damaging	Het
Pla2g4d	C	A	2: 120,107,971 (GRCm39)	A313S	possibly damaging	Het
Ptcd3	C	A	6: 71,885,637 (GRCm39)	E30*	probably null	Het
Rai1	A	G	11: 60,078,428 (GRCm39)	T831A	probably benign	Het
Rims1	G	A	1: 22,367,172 (GRCm39)	T1176M	probably damaging	Het
Rin1	A	C	19: 5,105,171 (GRCm39)	I744L	probably benign	Het
Rora	T	A	9: 69,282,771 (GRCm39)	S430T	probably benign	Het
Rsph10b	T	A	5: 143,873,967 (GRCm39)	S23T	probably damaging	Het
Ryr1	T	C	7: 28,746,928 (GRCm39)	N3773S	probably benign	Het
Scn4a	A	G	11: 106,230,180 (GRCm39)	Y543H	probably damaging	Het
Scn4a	C	A	11: 106,236,373 (GRCm39)	G296C	probably benign	Het
Scn7a	T	C	2: 66,535,447 (GRCm39)	T435A	probably benign	Het
Shank2	G	T	7: 143,964,890 (GRCm39)	D833Y	probably damaging	Het
Slc9a2	T	C	1: 40,802,770 (GRCm39)	S607P	possibly damaging	Het
Slx4	G	A	16: 3,809,458 (GRCm39)	R346W	probably damaging	Het
Spata20	A	T	11: 94,371,340 (GRCm39)	C675S	probably benign	Het
Suclg2	A	T	6: 95,563,997 (GRCm39)	I196N	probably damaging	Het
Sv2b	G	A	7: 74,798,807 (GRCm39)	H272Y	possibly damaging	Het
Svep1	T	C	4: 58,070,629 (GRCm39)	I2386V	probably benign	Het
Taf13	A	T	3: 108,488,445 (GRCm39)	E109D	possibly damaging	Het
Tanc2	A	G	11: 105,790,606 (GRCm39)	T976A	probably benign	Het
Tax1bp1	A	G	6: 52,706,311 (GRCm39)	Y104C	probably damaging	Het
Tfeb	T	C	17: 48,099,911 (GRCm39)		probably null	Het
Tlr9	T	C	9: 106,101,248 (GRCm39)	Y180H	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Ttc12	T	A	9: 49,356,499 (GRCm39)	T510S	probably benign	Het
Ubqln1	T	C	13: 58,339,895 (GRCm39)	E280G	probably damaging	Het
Urm1	T	C	2: 29,731,437 (GRCm39)	W44R	probably damaging	Het
Usp32	A	T	11: 84,933,406 (GRCm39)	I34N	probably benign	Het
Vars1	T	C	17: 35,233,728 (GRCm39)	L1018P	probably damaging	Het
Vcan	A	T	13: 89,869,894 (GRCm39)	V206D	probably damaging	Het
Vim	T	C	2: 13,583,270 (GRCm39)	V224A	probably damaging	Het
Vmn2r106	G	T	17: 20,498,997 (GRCm39)	H305N	probably benign	Het
Vmn2r78	A	G	7: 86,604,132 (GRCm39)	N770S	probably damaging	Het
Xylt2	A	G	11: 94,559,575 (GRCm39)	S356P	possibly damaging	Het
Zbtb14	A	G	17: 69,694,575 (GRCm39)	N91S	probably damaging	Het
Zc3h6	T	C	2: 128,858,654 (GRCm39)	L895S	probably damaging	Het
Zc3h7b	C	T	15: 81,661,289 (GRCm39)	P376L	probably benign	Het
Zfp131	T	C	13: 120,228,079 (GRCm39)	T523A	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
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
R4727:Wdr33	UTSW	18	32,021,500 (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'- CTTCTAAGTGTGCGGAGAATCCAGG -3'
(R):5'- CAGAAGGTAGGCTCAGTCAATGCAG -3'

Sequencing Primer
(F):5'- TCCAGGAGGGAAAGCATTATAGAG -3'
(R):5'- TCGAAATCGCGGGTCATCAG -3'

Posted On

2014-05-14