Mutagenetix > Incidental Mutation

Incidental Mutation 'R5334:Wrap73'

423394

Institutional Source

Beutler Lab

Gene Symbol

Wrap73

Ensembl Gene

ENSMUSG00000029029

Gene Name

WD repeat containing, antisense to Trp73

Synonyms

DD57, 2610044M17Rik, Wdr8, 5330425N03Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.688) question?

Stock #

R5334 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

154226811-154241278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 154229731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 34 (R34Q)

Ref Sequence

ENSEMBL: ENSMUSP00000030895 (fasta)

Gene Model

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

AlphaFold

Q9JM98

Predicted Effect

probably damaging
Transcript: ENSMUST00000030895
AA Change: R34Q

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030895
Gene: ENSMUSG00000029029
AA Change: R34Q

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

Meta Mutation Damage Score

0.4370

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Ap4s1	C	T	12: 51,785,454 (GRCm39)	S142L	probably benign	Het
Apol11a	A	G	15: 77,400,953 (GRCm39)	T147A	probably benign	Het
Aqp9	T	C	9: 71,030,292 (GRCm39)		probably null	Het
Arhgap25	T	A	6: 87,440,243 (GRCm39)	N468I	possibly damaging	Het
Arhgef2	T	A	3: 88,553,636 (GRCm39)	S924R	probably damaging	Het
Atad3a	A	T	4: 155,840,146 (GRCm39)	L144Q	probably damaging	Het
Ccbe1	T	C	18: 66,216,316 (GRCm39)	I136V	probably damaging	Het
Col24a1	C	A	3: 145,167,280 (GRCm39)	P1119Q	possibly damaging	Het
Dgkd	T	C	1: 87,865,989 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,542,805 (GRCm39)	I2455T	probably benign	Het
Dock2	T	C	11: 34,178,643 (GRCm39)	T1795A	probably benign	Het
Dpp6	A	T	5: 27,914,538 (GRCm39)	E541V	probably benign	Het
Edem1	T	C	6: 108,825,793 (GRCm39)		probably null	Het
Fbxo41	A	G	6: 85,455,465 (GRCm39)	V573A	probably damaging	Het
Fech	A	C	18: 64,597,191 (GRCm39)	V256G	probably damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gal3st4	T	G	5: 138,263,983 (GRCm39)	K339Q	probably benign	Het
Gpr158	T	A	2: 21,832,316 (GRCm39)	S1139T	probably benign	Het
Gpr180	A	T	14: 118,397,468 (GRCm39)	S321C	probably damaging	Het
Grik1	CGG	CGGG	16: 87,720,082 (GRCm39)		probably null	Het
Grin2c	T	G	11: 115,146,881 (GRCm39)	N438T	possibly damaging	Het
Hcn2	T	C	10: 79,562,125 (GRCm39)	S374P	probably damaging	Het
Hmcn1	T	A	1: 150,631,123 (GRCm39)	I892F	probably damaging	Het
Ifi207	C	T	1: 173,555,097 (GRCm39)	V869I	probably benign	Het
Itgad	T	C	7: 127,788,458 (GRCm39)	Y390H	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnj15	A	G	16: 95,097,508 (GRCm39)	K377E	probably damaging	Het
Kcnq3	A	G	15: 65,897,073 (GRCm39)	S276P	probably damaging	Het
Klhl26	T	C	8: 70,904,968 (GRCm39)	D280G	probably damaging	Het
Lmnb2	C	T	10: 80,739,791 (GRCm39)	V376I	probably benign	Het
Lrrc37	T	C	11: 103,504,699 (GRCm39)	Q2423R	probably benign	Het
Mepce	T	A	5: 137,784,889 (GRCm39)	R29S	probably benign	Het
Mlh3	A	G	12: 85,292,535 (GRCm39)		probably null	Het
Mlip	T	A	9: 77,150,958 (GRCm39)	T33S	probably damaging	Het
Msantd5f6	T	A	4: 73,321,754 (GRCm39)	M94L	probably benign	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Ncapg2	T	C	12: 116,390,257 (GRCm39)	I402T	probably damaging	Het
Or2aj6	C	G	16: 19,443,241 (GRCm39)	G203A	probably benign	Het
Or5m13b	T	C	2: 85,754,058 (GRCm39)	Y149H	probably damaging	Het
Pcsk5	T	C	19: 17,439,215 (GRCm39)	D1301G	probably benign	Het
Pilrb1	T	C	5: 137,853,165 (GRCm39)	M213V	probably benign	Het
Plxdc1	T	C	11: 97,846,931 (GRCm39)	T163A	possibly damaging	Het
Pnpla2	T	C	7: 141,039,406 (GRCm39)	L373P	probably damaging	Het
Prickle2	A	G	6: 92,402,665 (GRCm39)	Y52H	probably damaging	Het
Rnf220	A	G	4: 117,129,548 (GRCm39)	C294R	probably damaging	Het
Slc12a1	A	G	2: 125,059,809 (GRCm39)	D903G	probably damaging	Het
Slc34a1	T	C	13: 24,003,034 (GRCm39)	F228S	probably damaging	Het
Sptbn1	T	C	11: 30,087,364 (GRCm39)	E1025G	possibly damaging	Het
Sult1c2	T	G	17: 54,271,758 (GRCm39)	D143A	probably damaging	Het
Taar1	T	G	10: 23,796,443 (GRCm39)	I47R	probably damaging	Het
Tctn3	G	T	19: 40,591,266 (GRCm39)	Q514K	probably benign	Het
Tg	T	C	15: 66,549,904 (GRCm39)	F222S	probably damaging	Het
Tmem236	C	A	2: 14,223,871 (GRCm39)	T220K	possibly damaging	Het
Trim50	C	T	5: 135,396,330 (GRCm39)	T426M	probably damaging	Het
Vmn1r237	T	C	17: 21,534,942 (GRCm39)	F222L	probably benign	Het
Zfp85	T	C	13: 67,899,803 (GRCm39)	Y52C	probably damaging	Het

Other mutations in Wrap73

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00793:Wrap73	APN	4	154,237,096 (GRCm39)	missense	probably damaging	0.99
IGL01562:Wrap73	APN	4	154,229,794 (GRCm39)	missense	possibly damaging	0.63
IGL01863:Wrap73	APN	4	154,229,790 (GRCm39)	missense	probably benign	0.02
IGL02342:Wrap73	APN	4	154,233,237 (GRCm39)	missense	probably benign	0.36
IGL03012:Wrap73	APN	4	154,229,691 (GRCm39)	splice site	probably benign
IGL03303:Wrap73	APN	4	154,231,000 (GRCm39)	missense	probably damaging	0.98
R0128:Wrap73	UTSW	4	154,226,957 (GRCm39)	missense	possibly damaging	0.81
R0455:Wrap73	UTSW	4	154,233,200 (GRCm39)	missense	possibly damaging	0.63
R0524:Wrap73	UTSW	4	154,229,764 (GRCm39)	missense	probably damaging	1.00
R0528:Wrap73	UTSW	4	154,229,776 (GRCm39)	missense	probably damaging	1.00
R0533:Wrap73	UTSW	4	154,240,611 (GRCm39)	missense	possibly damaging	0.91
R0533:Wrap73	UTSW	4	154,236,106 (GRCm39)	missense	probably damaging	1.00
R0633:Wrap73	UTSW	4	154,226,948 (GRCm39)	missense	probably damaging	0.98
R1118:Wrap73	UTSW	4	154,236,884 (GRCm39)	splice site	probably null
R1669:Wrap73	UTSW	4	154,240,588 (GRCm39)	missense	probably damaging	0.99
R1725:Wrap73	UTSW	4	154,233,209 (GRCm39)	missense	possibly damaging	0.73
R2070:Wrap73	UTSW	4	154,233,200 (GRCm39)	missense	possibly damaging	0.63
R4530:Wrap73	UTSW	4	154,241,164 (GRCm39)	unclassified	probably benign
R4669:Wrap73	UTSW	4	154,236,153 (GRCm39)	missense	probably benign	0.26
R4969:Wrap73	UTSW	4	154,237,138 (GRCm39)	missense	probably damaging	1.00
R5254:Wrap73	UTSW	4	154,239,803 (GRCm39)	missense	probably benign	0.00
R5428:Wrap73	UTSW	4	154,229,731 (GRCm39)	missense	probably damaging	0.97
R5431:Wrap73	UTSW	4	154,229,731 (GRCm39)	missense	probably damaging	0.97
R5728:Wrap73	UTSW	4	154,239,099 (GRCm39)	critical splice donor site	probably null
R7338:Wrap73	UTSW	4	154,237,043 (GRCm39)	missense	probably benign	0.26
R7426:Wrap73	UTSW	4	154,240,584 (GRCm39)	missense	probably damaging	1.00
R7480:Wrap73	UTSW	4	154,237,043 (GRCm39)	missense	probably benign	0.26
R7680:Wrap73	UTSW	4	154,241,079 (GRCm39)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- ACTTGTACAAATTTGTGGGTTAGAG -3'
(R):5'- CAAGGCCCACAGACATGTAG -3'

Sequencing Primer
(F):5'- ACTTTTAAACTTTTGAATGCTCCACC -3'
(R):5'- TGTAGCACCCATCTATACACTCTAC -3'

Posted On

2016-08-04