Mutagenetix > Incidental Mutations

Incidental Mutation 'R0455:Wrap73'

39949

Institutional Source

Beutler Lab

Gene Symbol

Wrap73

Ensembl Gene

ENSMUSG00000029029

Gene Name

WD repeat containing, antisense to Trp73

Synonyms

DD57, Wdr8, 5330425N03Rik, 2610044M17Rik

MMRRC Submission

038655-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.763) question?

Stock #

R0455 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

154142372-154167420 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 154148743 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 125 (S125T)

Ref Sequence

ENSEMBL: ENSMUSP00000030895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030895]

AlphaFold

Q9JM98

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030895
AA Change: S125T

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000030895
Gene: ENSMUSG00000029029
AA Change: S125T

Domain	Start	End	E-Value	Type
Blast:WD40	38	77	4e-18	BLAST
Blast:WD40	81	120	6e-16	BLAST
Blast:WD40	125	163	9e-6	BLAST
WD40	167	208	2.28e2	SMART
WD40	215	251	1.58e-2	SMART
WD40	319	360	2.29e1	SMART
WD40	363	401	4.18e-2	SMART
Blast:WD40	402	443	2e-19	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142665

Predicted Effect

probably benign
Transcript: ENSMUST00000146734

SMART Domains

Protein: ENSMUSP00000118548
Gene: ENSMUSG00000029029

Domain	Start	End	E-Value	Type
WD40	28	64	1.58e-2	SMART

Meta Mutation Damage Score

0.0698

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.8%

Validation Efficiency

100% (56/56)

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. Studies of the related mouse protein suggest that the encoded protein may play a role in the process of ossification. [provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,230,983	G342D	possibly damaging	Het
Acvr2b	C	T	9: 119,432,609	R399W	probably damaging	Het
AI464131	G	A	4: 41,499,538	R31*	probably null	Het
Atf6	A	G	1: 170,834,923	V256A	probably benign	Het
Atp2b4	A	T	1: 133,728,716	I732N	probably damaging	Het
C1qtnf9	A	C	14: 60,772,371	Q25H	probably damaging	Het
Ccdc6	T	A	10: 70,142,571		probably benign	Het
Cds2	T	C	2: 132,285,967		probably null	Het
Chdh	A	G	14: 30,034,646	Y343C	probably damaging	Het
Col5a2	T	C	1: 45,382,102		probably benign	Het
Cts3	G	A	13: 61,568,210		probably benign	Het
Cyfip1	T	A	7: 55,892,054	D362E	probably benign	Het
Dsg1b	T	A	18: 20,396,025	S273T	probably benign	Het
Dysf	A	T	6: 84,140,667	H1274L	probably benign	Het
Eva1c	T	C	16: 90,876,098	S187P	probably benign	Het
Fam126b	T	C	1: 58,534,479		probably benign	Het
Fam13b	G	A	18: 34,445,528		probably benign	Het
Fam172a	T	A	13: 77,834,713		probably benign	Het
Fbn2	C	T	18: 58,035,336	G2310S	probably damaging	Het
Fcna	T	C	2: 25,625,508	Y183C	probably damaging	Het
Fnta	T	C	8: 26,001,028	T263A	probably benign	Het
Gm94	T	C	18: 43,781,244	D83G	possibly damaging	Het
Gnal	C	T	18: 67,135,649		probably benign	Het
Grb7	T	G	11: 98,452,188	S244A	probably benign	Het
Grm3	T	C	5: 9,512,477	T458A	probably benign	Het
Hdac2	C	T	10: 36,991,836	R193C	probably damaging	Het
Ighmbp2	T	C	19: 3,265,072	R783G	probably benign	Het
Inpp5j	G	T	11: 3,503,122	L43I	possibly damaging	Het
Itga11	A	T	9: 62,696,961	T44S	probably damaging	Het
Itsn1	C	T	16: 91,868,148		probably benign	Het
Kdm6b	G	T	11: 69,406,996	C233*	probably null	Het
Lamb3	T	C	1: 193,343,392	L1130P	probably damaging	Het
Lrch3	T	C	16: 32,986,880	F508L	probably damaging	Het
Lrrd1	T	A	5: 3,866,425	V814E	probably benign	Het
Megf10	C	T	18: 57,252,982	P356S	probably benign	Het
Naip1	A	T	13: 100,423,219	D1092E	probably benign	Het
Nus1	T	A	10: 52,430,094	V42E	probably damaging	Het
Olfr435	A	C	6: 43,202,072	M143L	probably benign	Het
Olfr739	A	G	14: 50,424,902	I128V	possibly damaging	Het
Padi3	T	C	4: 140,795,713	N306S	probably damaging	Het
Pex13	T	C	11: 23,655,949	S94G	probably benign	Het
Ppm1h	G	T	10: 122,802,324	Q166H	probably benign	Het
Ptafr	A	T	4: 132,580,085	Y262F	probably benign	Het
Rabgap1	T	A	2: 37,487,120	D321E	probably damaging	Het
Samsn1	C	T	16: 75,945,225		noncoding transcript	Het
Scarb1	T	C	5: 125,289,681	N63D	probably damaging	Het
Serpinb7	T	C	1: 107,451,610	I249T	possibly damaging	Het
Srpr	A	G	9: 35,214,981	K490R	probably benign	Het
Sycn	A	G	7: 28,540,973	N22D	probably benign	Het
Tarbp1	C	T	8: 126,440,873	A1067T	probably benign	Het
Tex14	A	G	11: 87,514,305	D681G	possibly damaging	Het
Usp34	C	T	11: 23,446,741		probably benign	Het
Vmn2r107	T	C	17: 20,374,823		probably benign	Het
Vwde	A	T	6: 13,187,529	M653K	probably benign	Het

Other mutations in Wrap73

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00793:Wrap73	APN	4	154152639	missense	probably damaging	0.99
IGL01562:Wrap73	APN	4	154145337	missense	possibly damaging	0.63
IGL01863:Wrap73	APN	4	154145333	missense	probably benign	0.02
IGL02342:Wrap73	APN	4	154148780	missense	probably benign	0.36
IGL03012:Wrap73	APN	4	154145234	splice site	probably benign
IGL03303:Wrap73	APN	4	154146543	missense	probably damaging	0.98
R0128:Wrap73	UTSW	4	154142500	missense	possibly damaging	0.81
R0524:Wrap73	UTSW	4	154145307	missense	probably damaging	1.00
R0528:Wrap73	UTSW	4	154145319	missense	probably damaging	1.00
R0533:Wrap73	UTSW	4	154151649	missense	probably damaging	1.00
R0533:Wrap73	UTSW	4	154156154	missense	possibly damaging	0.91
R0633:Wrap73	UTSW	4	154142491	missense	probably damaging	0.98
R1118:Wrap73	UTSW	4	154152427	splice site	probably null
R1669:Wrap73	UTSW	4	154156131	missense	probably damaging	0.99
R1725:Wrap73	UTSW	4	154148752	missense	possibly damaging	0.73
R2070:Wrap73	UTSW	4	154148743	missense	possibly damaging	0.63
R4530:Wrap73	UTSW	4	154156707	unclassified	probably benign
R4669:Wrap73	UTSW	4	154151696	missense	probably benign	0.26
R4969:Wrap73	UTSW	4	154152681	missense	probably damaging	1.00
R5254:Wrap73	UTSW	4	154155346	missense	probably benign	0.00
R5334:Wrap73	UTSW	4	154145274	missense	probably damaging	0.97
R5428:Wrap73	UTSW	4	154145274	missense	probably damaging	0.97
R5431:Wrap73	UTSW	4	154145274	missense	probably damaging	0.97
R5728:Wrap73	UTSW	4	154154642	critical splice donor site	probably null
R7338:Wrap73	UTSW	4	154152586	missense	probably benign	0.26
R7426:Wrap73	UTSW	4	154156127	missense	probably damaging	1.00
R7480:Wrap73	UTSW	4	154152586	missense	probably benign	0.26
R7680:Wrap73	UTSW	4	154156622	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- GGTCATAGACAGGTCACCGCACA -3'
(R):5'- TGCACAGTGATGGAAGCTGGG -3'

Sequencing Primer
(F):5'- ACTTGAGCAGTAAGGCTTCC -3'
(R):5'- ATGGAAGCTGGGGGAGG -3'

Posted On

2013-05-23