Mutagenetix > Incidental Mutation

Incidental Mutation 'R0563:Wdr33'

46039

Institutional Source

Beutler Lab

Gene Symbol

Wdr33

Ensembl Gene

ENSMUSG00000024400

Gene Name

WD repeat domain 33

Synonyms

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

MMRRC Submission

038754-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R0563 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31937143-32040450 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32019792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 488 (K488R)

Ref Sequence

ENSEMBL: ENSMUSP00000025264 (fasta)

Gene Model

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

AlphaFold

Q8K4P0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025264
AA Change: K488R

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025264
Gene: ENSMUSG00000024400
AA Change: K488R

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

Meta Mutation Damage Score

0.0888

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

98% (52/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	G	T	1: 25,586,635 (GRCm39)	P146T	probably damaging	Het
Ambn	A	C	5: 88,611,309 (GRCm39)	N163T	probably benign	Het
Ankrd36	A	T	11: 5,579,322 (GRCm39)	E870D	probably benign	Het
Cdc123	T	C	2: 5,803,212 (GRCm39)	N269S	probably benign	Het
Cdc7	A	T	5: 107,120,776 (GRCm39)		probably benign	Het
Cdh2	A	T	18: 16,762,738 (GRCm39)	V402D	possibly damaging	Het
Cwc27	C	A	13: 104,797,865 (GRCm39)	E365*	probably null	Het
Dcdc5	G	A	2: 106,180,035 (GRCm39)		noncoding transcript	Het
Eif4g3	T	C	4: 137,903,151 (GRCm39)		probably benign	Het
Elovl4	C	T	9: 83,667,087 (GRCm39)		probably null	Het
Fhl5	T	G	4: 25,213,610 (GRCm39)	I109L	probably damaging	Het
Gm16181	A	G	17: 35,442,872 (GRCm39)		probably benign	Het
Gna14	A	G	19: 16,585,483 (GRCm39)	Y287C	probably benign	Het
Greb1	A	T	12: 16,730,268 (GRCm39)	C1720S	probably benign	Het
Gypa	T	A	8: 81,236,089 (GRCm39)	S165T	probably benign	Het
Hephl1	T	C	9: 14,993,241 (GRCm39)	D531G	probably damaging	Het
Hsf2bp	A	T	17: 32,226,692 (GRCm39)	L221Q	probably damaging	Het
Itsn1	A	G	16: 91,617,684 (GRCm39)		probably benign	Het
Kif7	T	C	7: 79,352,020 (GRCm39)	E914G	probably benign	Het
Lrp1b	T	C	2: 40,640,926 (GRCm39)	D3506G	probably benign	Het
Lrrc28	T	C	7: 67,195,135 (GRCm39)	N225S	probably damaging	Het
Lysmd4	T	A	7: 66,875,925 (GRCm39)	L196Q	probably benign	Het
Megf8	T	C	7: 25,041,820 (GRCm39)	C1245R	probably damaging	Het
Mgat4f	A	G	1: 134,317,777 (GRCm39)	K183R	probably benign	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Mindy2	T	A	9: 70,538,334 (GRCm39)	I334L	possibly damaging	Het
Mrm1	A	G	11: 84,705,539 (GRCm39)	S287P	probably damaging	Het
Ncor1	A	G	11: 62,234,056 (GRCm39)	I382T	probably damaging	Het
Nectin1	A	G	9: 43,702,342 (GRCm39)	T30A	probably benign	Het
Nelfe	A	G	17: 35,073,215 (GRCm39)	E250G	possibly damaging	Het
Nsd1	C	A	13: 55,394,391 (GRCm39)	T767K	possibly damaging	Het
Or1i2	G	A	10: 78,448,467 (GRCm39)	P3S	probably benign	Het
Or1j18	A	T	2: 36,625,013 (GRCm39)	K227*	probably null	Het
Or4e5	T	A	14: 52,727,714 (GRCm39)	K236*	probably null	Het
Or5b111	A	G	19: 13,291,112 (GRCm39)	I179T	probably benign	Het
Pcnx1	A	G	12: 81,964,718 (GRCm39)	D295G	probably damaging	Het
Pex14	A	G	4: 149,046,003 (GRCm39)	V309A	possibly damaging	Het
Phf14	C	T	6: 11,933,600 (GRCm39)		probably benign	Het
Pnpla6	A	G	8: 3,573,333 (GRCm39)	D399G	possibly damaging	Het
Prim1	A	G	10: 127,862,423 (GRCm39)	D340G	probably damaging	Het
Rb1	A	G	14: 73,454,207 (GRCm39)	F564L	probably damaging	Het
Rcc1l	G	C	5: 134,205,394 (GRCm39)	R54G	probably benign	Het
Rnf151	G	A	17: 24,936,430 (GRCm39)		probably benign	Het
Rnf40	T	C	7: 127,192,048 (GRCm39)	L398P	probably damaging	Het
Robo1	C	T	16: 72,769,174 (GRCm39)	T531I	probably benign	Het
Rps6ka2	A	T	17: 7,521,836 (GRCm39)	I198F	probably damaging	Het
Sgk2	T	C	2: 162,846,164 (GRCm39)	L264P	probably damaging	Het
Slc26a6	T	A	9: 108,734,869 (GRCm39)	I281N	probably damaging	Het
Tnxb	A	T	17: 34,935,921 (GRCm39)	K2657N	probably benign	Het
Tor1aip1	G	A	1: 155,911,554 (GRCm39)	T143M	probably damaging	Het
Tpr	A	G	1: 150,284,609 (GRCm39)	D358G	probably benign	Het
Vstm2b	T	C	7: 40,551,899 (GRCm39)	S76P	probably damaging	Het
Ythdc2	T	A	18: 44,997,915 (GRCm39)		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
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
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'- TTCACAAGCTGGTTGAGCAGGG -3'
(R):5'- GACATAGGGAAAGCTGATACCGCTG -3'

Sequencing Primer
(F):5'- taGTGTTGAAATGCTTACATGGTTTG -3'
(R):5'- cgggaggcagtggaagg -3'

Posted On

2013-06-11