Mutagenetix > Incidental Mutations

Incidental Mutation 'R4969:Wrap73'

384258

Institutional Source

Beutler Lab

Gene Symbol

Wrap73

Ensembl Gene

ENSMUSG00000029029

Gene Name

WD repeat containing, antisense to Trp73

Synonyms

DD57, Wdr8, 5330425N03Rik, 2610044M17Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.632) question?

Stock #

R4969 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

154142372-154167420 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154152681 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 54 (S54G)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030895] [ENSMUST00000030896]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030895
AA Change: S242G

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030895
Gene: ENSMUSG00000029029
AA Change: S242G

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

probably benign
Transcript: ENSMUST00000030896

SMART Domains

Protein: ENSMUSP00000030896
Gene: ENSMUSG00000029030

Domain	Start	End	E-Value	Type
Pfam:hSac2	56	163	3.5e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132562

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142665

Predicted Effect

probably damaging
Transcript: ENSMUST00000146734
AA Change: S54G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118548
Gene: ENSMUSG00000029029
AA Change: S54G

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
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. 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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	G	7: 46,105,519	I1525T	probably benign	Het
Agtpbp1	A	G	13: 59,500,578	V476A	probably benign	Het
Aipl1	A	G	11: 72,031,430	I151T	probably benign	Het
Apc	C	T	18: 34,312,918	R938*	probably null	Het
Atp2a2	A	G	5: 122,458,491	F855S	possibly damaging	Het
Axdnd1	T	C	1: 156,395,505	T261A	possibly damaging	Het
Cbfa2t2	A	G	2: 154,523,980	D370G	probably damaging	Het
Cep350	T	C	1: 155,860,279	I2964V	probably damaging	Het
Clec16a	T	C	16: 10,568,511	V158A	probably damaging	Het
Col6a5	G	A	9: 105,864,607	T2371I	probably damaging	Het
Cpne8	T	C	15: 90,619,726	T79A	probably damaging	Het
Cyp2b13	A	G	7: 26,080,988	R145G	probably damaging	Het
Disc1	G	A	8: 125,124,550	W391*	probably null	Het
Dnah8	G	A	17: 30,723,014	V1745I	probably damaging	Het
Dsp	T	C	13: 38,192,910	V1557A	probably benign	Het
Egfem1	T	A	3: 29,582,996	Y194N	probably damaging	Het
Eif4a3	A	G	11: 119,288,879	Y361H	probably damaging	Het
Esd	T	A	14: 74,744,713	S189R	possibly damaging	Het
Fancf	A	T	7: 51,861,448	Y269*	probably null	Het
Fbln2	A	T	6: 91,271,587	H1078L	possibly damaging	Het
Fbxw13	A	G	9: 109,181,524		probably null	Het
Fcgr2b	A	T	1: 170,963,372	V284D	probably benign	Het
Fuz	G	A	7: 44,900,294	G363R	probably damaging	Het
Gas7	A	G	11: 67,683,408	E403G	probably damaging	Het
Gnl1	A	G	17: 35,980,689	D49G	possibly damaging	Het
Gucy2g	A	G	19: 55,226,013	V561A	probably benign	Het
H1fnt	A	T	15: 98,256,335	V311E	unknown	Het
Hebp2	T	C	10: 18,544,374	T104A	probably benign	Het
Ighv1-19	T	A	12: 114,708,757	Q80L	probably benign	Het
Kctd19	T	A	8: 105,396,327		probably null	Het
Kdm3b	T	C	18: 34,822,375	L905P	probably damaging	Het
Klkb1	T	C	8: 45,282,777	D183G	probably benign	Het
Krt6b	T	C	15: 101,680,025	R67G	possibly damaging	Het
Krt75	T	C	15: 101,573,813	I7V	probably benign	Het
Lpo	A	T	11: 87,806,925	N685K	probably benign	Het
Mroh7	A	T	4: 106,680,873	I1202N	probably benign	Het
Muc4	T	A	16: 32,754,572	M1482K	probably benign	Het
Mylk	T	A	16: 34,971,440	V1494E	probably damaging	Het
Neurl4	A	G	11: 69,911,087	D17G	probably damaging	Het
Nkx6-3	A	G	8: 23,157,709	Y228C	probably damaging	Het
Nprl2	G	A	9: 107,543,074		probably null	Het
Nxf1	A	G	19: 8,762,305		probably null	Het
Olfr1238	A	G	2: 89,406,426	F218L	probably benign	Het
Olfr654	A	T	7: 104,588,523	N240Y	probably damaging	Het
Pde3b	A	G	7: 114,519,612	E662G	possibly damaging	Het
Plekhm3	G	A	1: 64,937,919	R131C	probably damaging	Het
Plpp7	T	C	2: 32,095,938	S43P	probably benign	Het
Pramel5	A	G	4: 144,271,617	L352P	probably damaging	Het
Prepl	T	C	17: 85,088,474	S27G	probably benign	Het
Ptprd	A	G	4: 76,133,305	I227T	probably damaging	Het
Pttg1ip	C	T	10: 77,584,020	Q6*	probably null	Het
Rgl1	C	T	1: 152,549,062		probably null	Het
Riiad1	C	A	3: 94,472,866	G41*	probably null	Het
Rnf214	C	T	9: 45,896,188	R239H	probably damaging	Het
Rpap3	C	T	15: 97,686,526	V346I	probably benign	Het
Scaf4	G	A	16: 90,251,943	Q328*	probably null	Het
Sec23a	A	G	12: 59,004,488		probably null	Het
Slc5a8	T	A	10: 88,904,912		probably null	Het
Slc9a8	A	G	2: 167,446,529	T183A	probably benign	Het
Sod3	A	T	5: 52,368,394	H145L	probably damaging	Het
Sp4	A	G	12: 118,299,606	V235A	probably damaging	Het
Spp1	A	C	5: 104,440,287	E185A	possibly damaging	Het
Susd1	A	T	4: 59,351,679	W461R	probably benign	Het
Svil	A	C	18: 5,095,516	K1124Q	probably damaging	Het
Tdrd12	A	T	7: 35,487,295		probably null	Het
Terb1	A	T	8: 104,495,163	N168K	probably benign	Het
Tnnt1	A	G	7: 4,507,574	L216P	probably damaging	Het
Ttc28	A	G	5: 111,276,255	K1463E	probably damaging	Het
Twf2	T	G	9: 106,211,899		probably null	Het
Urb1	C	T	16: 90,805,411	R90Q	probably damaging	Het
Wdr45b	A	T	11: 121,328,824	C299*	probably null	Het
Zeb2	T	C	2: 44,998,919	K323R	probably damaging	Het
Zfp410	T	C	12: 84,331,808	I302T	possibly damaging	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
R0455:Wrap73	UTSW	4	154148743	missense	possibly damaging	0.63
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
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'- AGGAATGTTCACCTGCAGG -3'
(R):5'- GTTAATGGTTGCAGGATGCC -3'

Sequencing Primer
(F):5'- TCAGTGCATCGAGCTGCTG -3'
(R):5'- TTAATGGTTGCAGGATGCCCAAAC -3'

Posted On

2016-04-27