Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01863:Wrap73'

178409

Institutional Source

Australian Phenomics Network (link to record)

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: 0.707) question?

Stock #

IGL01863

Quality Score

Status

Chromosome

Chromosomal Location

154142372-154167420 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154145333 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 54 (I54V)

Ref Sequence

ENSEMBL: ENSMUSP00000030895 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000030895
AA Change: I54V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000030895
Gene: ENSMUSG00000029029
AA Change: I54V

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

Coding Region Coverage

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	T	A	10: 42,339,911	I326F	possibly damaging	Het
Aimp1	T	C	3: 132,672,092	T171A	probably benign	Het
Armc4	T	C	18: 7,222,617	T551A	probably damaging	Het
Ash1l	T	A	3: 88,985,506	L1564*	probably null	Het
Atp1a1	G	T	3: 101,591,889	Y131*	probably null	Het
Celsr2	T	C	3: 108,394,022	E2686G	probably benign	Het
Cyp4f18	A	G	8: 71,989,926	V395A	possibly damaging	Het
Ephb2	T	C	4: 136,659,777	Q713R	probably benign	Het
Esf1	A	T	2: 140,120,679	M824K	probably benign	Het
Fam46c	C	T	3: 100,472,664	D259N	probably benign	Het
Fat4	T	C	3: 38,970,619		probably benign	Het
Gem	A	G	4: 11,705,980	I23V	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Il6st	A	G	13: 112,504,210	E779G	possibly damaging	Het
Lama3	T	A	18: 12,419,936		probably benign	Het
Lipi	A	C	16: 75,550,226	I435R	probably damaging	Het
Lrrc6	A	T	15: 66,396,974		probably benign	Het
Olfr291	T	C	7: 84,856,411	L14P	probably damaging	Het
Omg	C	T	11: 79,502,224	M269I	probably benign	Het
Optn	A	T	2: 5,021,487		probably benign	Het
Pex1	A	G	5: 3,606,066	T298A	probably benign	Het
Rab27b	T	A	18: 69,989,554	R111S	probably damaging	Het
Rhbdf1	T	G	11: 32,213,484	E329D	probably benign	Het
Slc2a13	T	C	15: 91,516,492	I176V	probably benign	Het
Slc30a1	T	A	1: 191,909,084	C281S	probably damaging	Het
Slc4a7	T	A	14: 14,762,430	C509S	probably damaging	Het
Slfn9	T	C	11: 82,981,325	R862G	probably benign	Het
Tbc1d2	A	G	4: 46,607,064	I782T	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Vps33b	T	C	7: 80,274,311		probably null	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
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
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

Posted On

2014-05-07