Mutagenetix > Incidental Mutation

Incidental Mutation 'R6454:Wdr33'

519508

Institutional Source

Beutler Lab

Gene Symbol

Wdr33

Ensembl Gene

ENSMUSG00000024400

Gene Name

WD repeat domain 33

Synonyms

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

MMRRC Submission

044590-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R6454 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31937143-32040450 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31963028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 125 (V125A)

Ref Sequence

ENSEMBL: ENSMUSP00000025264 (fasta)

Gene Model

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

AlphaFold

Q8K4P0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025264
AA Change: V125A

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000025264
Gene: ENSMUSG00000024400
AA Change: V125A

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

probably benign
Transcript: ENSMUST00000082319
AA Change: V125A

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000080936
Gene: ENSMUSG00000024400
AA Change: V125A

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.1%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	G	T	8: 44,079,845 (GRCm39)	N126K	probably damaging	Het
Arid2	C	T	15: 96,270,294 (GRCm39)	T1469I	probably benign	Het
Atp12a	A	G	14: 56,608,290 (GRCm39)	T93A	probably benign	Het
Atp8a2	A	T	14: 60,245,948 (GRCm39)		probably null	Het
Casz1	A	T	4: 149,035,952 (GRCm39)	I1405F	probably damaging	Het
Chrnb3	T	C	8: 27,883,403 (GRCm39)	S100P	probably damaging	Het
Creld2	T	A	15: 88,707,274 (GRCm39)	C197*	probably null	Het
Csmd1	A	T	8: 15,971,150 (GRCm39)	F3055Y	probably damaging	Het
Dnah11	T	A	12: 117,880,590 (GRCm39)	E3843D	probably benign	Het
Dnah14	T	C	1: 181,611,270 (GRCm39)	S3799P	probably damaging	Het
Dpp9	A	T	17: 56,513,808 (GRCm39)	L102Q	probably damaging	Het
Eipr1	T	G	12: 28,914,761 (GRCm39)	I305S	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Faf1	G	T	4: 109,699,531 (GRCm39)	A359S	probably benign	Het
Fam13b	A	G	18: 34,590,715 (GRCm39)		probably null	Het
Gm14496	A	T	2: 181,638,015 (GRCm39)	N363I	probably damaging	Het
Grm8	T	G	6: 27,363,775 (GRCm39)	H580P	possibly damaging	Het
Itih5	T	C	2: 10,245,479 (GRCm39)	F523L	probably benign	Het
Klhl1	A	T	14: 96,517,527 (GRCm39)	M383K	possibly damaging	Het
Lgi4	A	T	7: 30,759,557 (GRCm39)	T38S	probably benign	Het
Myh13	T	A	11: 67,241,191 (GRCm39)	M856K	probably benign	Het
Myo7a	C	T	7: 97,722,374 (GRCm39)	V1184M	probably benign	Het
Nlrp9c	G	A	7: 26,085,199 (GRCm39)	R127C	possibly damaging	Het
Notch2	T	C	3: 98,044,722 (GRCm39)	I1548T	possibly damaging	Het
Nphs2	T	A	1: 156,146,337 (GRCm39)	H179Q	probably damaging	Het
Nup153	T	C	13: 46,863,136 (GRCm39)		probably null	Het
Nup50l	T	G	6: 96,142,609 (GRCm39)	H145P	possibly damaging	Het
Odf2l	C	A	3: 144,859,181 (GRCm39)	Q517K	possibly damaging	Het
Omd	A	T	13: 49,743,345 (GRCm39)	I132F	probably damaging	Het
Or10d1b	A	G	9: 39,613,130 (GRCm39)	*312Q	probably null	Het
Or4a81	T	C	2: 89,619,522 (GRCm39)	Y58C	probably damaging	Het
Or5b12	T	A	19: 12,897,395 (GRCm39)	N93Y	probably benign	Het
Or9g19	A	G	2: 85,600,717 (GRCm39)	K191E	probably benign	Het
Otog	A	G	7: 45,955,241 (GRCm39)	N544D	probably damaging	Het
Ovol3	A	G	7: 29,934,800 (GRCm39)	Y29H	probably damaging	Het
Papolb	T	C	5: 142,515,353 (GRCm39)	K97E	possibly damaging	Het
Pcdhb19	G	T	18: 37,632,322 (GRCm39)	V706L	probably benign	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Plekhm1	G	A	11: 103,268,208 (GRCm39)	R588C	probably damaging	Het
Pnpla6	G	T	8: 3,587,986 (GRCm39)	V1062L	probably damaging	Het
Ppp1r9a	T	A	6: 4,905,827 (GRCm39)	F127L	probably damaging	Het
Rigi	T	A	4: 40,220,456 (GRCm39)	I476F	probably damaging	Het
Rnf5	A	C	17: 34,821,283 (GRCm39)	C47W	probably damaging	Het
Sbno1	A	T	5: 124,538,910 (GRCm39)	M517K	probably damaging	Het
Slc44a5	C	T	3: 153,948,796 (GRCm39)	T188M	probably benign	Het
Smco1	A	G	16: 32,092,041 (GRCm39)	T40A	possibly damaging	Het
Speer4f2	A	T	5: 17,579,431 (GRCm39)	I77F	probably damaging	Het
Spem2	A	G	11: 69,708,254 (GRCm39)	L237P	probably damaging	Het
Spg7	A	G	8: 123,806,162 (GRCm39)	K291E	possibly damaging	Het
Tent5b	A	G	4: 133,207,720 (GRCm39)	D37G	probably damaging	Het
Tiam2	A	T	17: 3,488,938 (GRCm39)	T749S	probably benign	Het
Tln1	T	C	4: 43,533,866 (GRCm39)	K2291E	probably damaging	Het
Tm6sf1	A	G	7: 81,525,801 (GRCm39)	M294V	probably damaging	Het
Tmem35b	T	C	4: 127,022,811 (GRCm39)	*138R	probably null	Het
Tpst1	A	G	5: 130,130,892 (GRCm39)	K121E	possibly damaging	Het
Tsc22d2	T	A	3: 58,323,261 (GRCm39)	V51D	possibly damaging	Het
Tshr	C	A	12: 91,505,323 (GRCm39)	Q754K	probably benign	Het
Ttc38	T	A	15: 85,723,023 (GRCm39)	M157K	probably damaging	Het
Ube2g2	T	G	10: 77,470,580 (GRCm39)		probably benign	Het
Ugt2b37	T	G	5: 87,388,836 (GRCm39)	D459A	probably damaging	Het
Usp35	A	T	7: 96,960,851 (GRCm39)	Y858*	probably null	Het
Usp35	A	T	7: 96,960,767 (GRCm39)	N886K	probably damaging	Het
Xpnpep1	G	A	19: 52,986,310 (GRCm39)	T506I	possibly 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
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
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
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'- CCTAATGGCTTGGAAAATTATCCTG -3'
(R):5'- ATCCTAACAGTAGTGGACAAAATGG -3'

Sequencing Primer
(F):5'- GGAGTAGAAATAGTTATCTTGCCATG -3'
(R):5'- AGTCAGGATCTCTCTATGTAGTCATG -3'

Posted On

2018-05-24