Mutagenetix > Incidental Mutation

Incidental Mutation 'R0103:Wdr33'

34514

Institutional Source

Beutler Lab

Gene Symbol

Wdr33

Ensembl Gene

ENSMUSG00000024400

Gene Name

WD repeat domain 33

Synonyms

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

MMRRC Submission

038389-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R0103 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31937143-32040450 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31966388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 135 (V135A)

Ref Sequence

ENSEMBL: ENSMUSP00000025264 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025264] [ENSMUST00000082319]

AlphaFold

Q8K4P0

Predicted Effect

probably damaging
Transcript: ENSMUST00000025264
AA Change: V135A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000025264
Gene: ENSMUSG00000024400
AA Change: V135A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082319
AA Change: V135A

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080936
Gene: ENSMUSG00000024400
AA Change: V135A

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

Meta Mutation Damage Score

0.1755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

99% (84/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,223,951 (GRCm39)	R443S	probably damaging	Het
Anapc1	T	C	2: 128,522,372 (GRCm39)		probably benign	Het
Aqr	T	A	2: 113,979,497 (GRCm39)	I313F	probably damaging	Het
Arfgap3	A	T	15: 83,206,922 (GRCm39)		probably benign	Het
Asah2	G	T	19: 31,996,377 (GRCm39)	H374N	probably benign	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
Ccdc106	C	A	7: 5,060,544 (GRCm39)	Q35K	probably benign	Het
Ccm2l	G	T	2: 152,909,839 (GRCm39)	E64*	probably null	Het
Cep85l	A	T	10: 53,154,270 (GRCm39)	D776E	possibly damaging	Het
Cfap52	T	A	11: 67,815,951 (GRCm39)	I611F	possibly damaging	Het
Cldn22	C	T	8: 48,277,589 (GRCm39)	T9M	probably benign	Het
Coa7	T	C	4: 108,195,338 (GRCm39)	L89P	possibly damaging	Het
Cox7a2l	A	T	17: 83,821,701 (GRCm39)	Y2N	probably damaging	Het
Ctns	A	C	11: 73,076,137 (GRCm39)	I299M	probably damaging	Het
Cyp27a1	A	C	1: 74,775,074 (GRCm39)	E301A	probably benign	Het
Cyp2b13	A	T	7: 25,788,135 (GRCm39)	K421M	probably damaging	Het
Cyp4f40	G	T	17: 32,895,282 (GRCm39)	C468F	probably damaging	Het
Cyp4f40	C	A	17: 32,895,283 (GRCm39)	C468*	probably null	Het
Dcun1d5	G	A	9: 7,188,788 (GRCm39)	C74Y	probably damaging	Het
Dennd4c	A	G	4: 86,730,683 (GRCm39)	Y860C	probably benign	Het
Dgkz	T	C	2: 91,764,550 (GRCm39)	T1028A	probably benign	Het
Dhx58	T	C	11: 100,586,096 (GRCm39)	T642A	probably damaging	Het
Dlg4	A	G	11: 69,922,019 (GRCm39)	Y87C	probably damaging	Het
Dnah6	C	T	6: 73,069,155 (GRCm39)	E2511K	probably damaging	Het
Entpd5	C	A	12: 84,443,717 (GRCm39)	E9*	probably null	Het
Fbln2	A	C	6: 91,248,532 (GRCm39)	I1066L	probably benign	Het
Fhl2	C	T	1: 43,192,381 (GRCm39)	R4H	probably benign	Het
Frmpd1	T	A	4: 45,229,884 (GRCm39)	I17K	probably damaging	Het
Galnt2l	A	G	8: 122,996,472 (GRCm39)		probably benign	Het
Gbp7	T	A	3: 142,252,299 (GRCm39)	N627K	probably benign	Het
Gnptab	A	G	10: 88,265,381 (GRCm39)	Y331C	probably damaging	Het
Hdac4	T	C	1: 91,903,366 (GRCm39)	E521G	possibly damaging	Het
Hibadh	T	A	6: 52,534,862 (GRCm39)	M173L	probably benign	Het
Iba57	C	T	11: 59,054,439 (GRCm39)	A27T	probably benign	Het
Itga1	T	C	13: 115,152,790 (GRCm39)	I211V	probably benign	Het
Keg1	A	T	19: 12,696,280 (GRCm39)	I155F	possibly damaging	Het
Krt84	T	C	15: 101,438,671 (GRCm39)	E272G	probably damaging	Het
Lrp2	C	A	2: 69,307,384 (GRCm39)	V2892L	probably benign	Het
Ltb	A	G	17: 35,414,016 (GRCm39)		probably benign	Het
Masp1	G	A	16: 23,276,768 (GRCm39)	P579L	probably damaging	Het
Mtor	T	A	4: 148,618,359 (GRCm39)	M1724K	probably benign	Het
Myo3a	T	G	2: 22,436,360 (GRCm39)		probably benign	Het
Myo9b	C	T	8: 71,776,493 (GRCm39)		probably benign	Het
Ncor1	G	T	11: 62,233,871 (GRCm39)	Q444K	possibly damaging	Het
Nek7	A	T	1: 138,471,980 (GRCm39)	C53*	probably null	Het
Obscn	G	T	11: 58,953,522 (GRCm39)	Y4044*	probably null	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Pcdh15	A	T	10: 74,046,257 (GRCm39)	D178V	probably damaging	Het
Pcsk6	T	C	7: 65,578,845 (GRCm39)		probably benign	Het
Phxr4	T	C	9: 13,343,087 (GRCm39)		probably benign	Het
Pkhd1	T	A	1: 20,593,583 (GRCm39)	D1510V	probably benign	Het
Pkhd1l1	T	C	15: 44,460,537 (GRCm39)	C4249R	probably benign	Het
Plxnb2	A	G	15: 89,045,972 (GRCm39)	Y968H	possibly damaging	Het
Prpf39	T	C	12: 65,102,057 (GRCm39)	V378A	possibly damaging	Het
Psd2	A	G	18: 36,137,770 (GRCm39)	N455S	probably damaging	Het
Ptch2	C	A	4: 116,966,622 (GRCm39)		probably benign	Het
Rab4b	A	G	7: 26,873,927 (GRCm39)	I117T	probably benign	Het
Rad9b	A	T	5: 122,469,590 (GRCm39)	V348E	probably damaging	Het
Rcor1	T	C	12: 111,076,212 (GRCm39)		probably benign	Het
Rhoc	A	T	3: 104,699,307 (GRCm39)	E32V	possibly damaging	Het
Rnf40	T	G	7: 127,199,743 (GRCm39)	V925G	probably damaging	Het
Rptor	G	T	11: 119,775,793 (GRCm39)	R988L	probably benign	Het
Slc25a32	A	T	15: 38,963,292 (GRCm39)	Y176*	probably null	Het
Slc7a1	T	A	5: 148,289,236 (GRCm39)	K4*	probably null	Het
Ss18	A	C	18: 14,812,478 (GRCm39)	Y38D	probably damaging	Het
Syt4	T	A	18: 31,580,273 (GRCm39)		probably benign	Het
Taar4	A	T	10: 23,837,304 (GRCm39)	N305Y	probably damaging	Het
Taar7b	A	T	10: 23,876,192 (GRCm39)	Y119F	probably benign	Het
Tcaf1	G	T	6: 42,663,324 (GRCm39)	D185E	probably benign	Het
Tmem138	T	C	19: 10,552,316 (GRCm39)	N62S	possibly damaging	Het
Tnfaip2	C	T	12: 111,412,244 (GRCm39)	T215M	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tnfrsf25	C	T	4: 152,201,405 (GRCm39)	P65S	possibly damaging	Het
Trp53bp1	A	T	2: 121,067,240 (GRCm39)	S495R	possibly damaging	Het
Trpv3	T	C	11: 73,184,805 (GRCm39)	F597S	probably damaging	Het
Tsc22d4	A	C	5: 137,745,378 (GRCm39)	M1L	possibly damaging	Het
Ttc39a	A	G	4: 109,278,650 (GRCm39)		probably null	Het
Ttn	T	G	2: 76,591,570 (GRCm39)	H21033P	probably damaging	Het
Ugt2a3	A	G	5: 87,484,577 (GRCm39)	V149A	possibly damaging	Het
Ush2a	T	G	1: 188,051,267 (GRCm39)	I251R	possibly damaging	Het
Vamp4	T	C	1: 162,417,108 (GRCm39)	C114R	possibly damaging	Het
Zc3h13	T	A	14: 75,567,908 (GRCm39)	V1067E	probably damaging	Het
Zcwpw1	G	A	5: 137,808,375 (GRCm39)	W274*	probably null	Het
Zfp219	T	A	14: 52,244,163 (GRCm39)	H627L	probably damaging	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
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
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

Posted On

2013-05-09