Mutagenetix > Incidental Mutation

Incidental Mutation 'R7338:Wrap73'

569637

Institutional Source

Beutler Lab

Gene Symbol

Wrap73

Ensembl Gene

ENSMUSG00000029029

Gene Name

WD repeat containing, antisense to Trp73

Synonyms

DD57, 2610044M17Rik, Wdr8, 5330425N03Rik

MMRRC Submission

045428-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.743) question?

Stock #

R7338 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

154226811-154241278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154237043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 210 (D210G)

Ref Sequence

ENSEMBL: ENSMUSP00000030895 (fasta)

Gene Model

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

AlphaFold

Q9JM98

Predicted Effect

probably benign
Transcript: ENSMUST00000030895
AA Change: D210G

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000030895
Gene: ENSMUSG00000029029
AA Change: D210G

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

SMART Domains

Protein: ENSMUSP00000118548
Gene: ENSMUSG00000029029
AA Change: D22G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (54/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,595,717 (GRCm39)	S357P	possibly damaging	Het
Arhgap28	T	C	17: 68,203,106 (GRCm39)	R166G	probably damaging	Het
Bcan	T	A	3: 87,901,550 (GRCm39)	E384V	probably damaging	Het
Bcl9l	A	G	9: 44,420,005 (GRCm39)	N1137S	probably benign	Het
Caprin1	A	G	2: 103,609,768 (GRCm39)	L170S	probably benign	Het
Card6	C	T	15: 5,129,354 (GRCm39)	E681K	probably benign	Het
Catsperb	G	A	12: 101,447,243 (GRCm39)	V248I	probably benign	Het
Ccnj	T	A	19: 40,825,477 (GRCm39)	H62Q	probably damaging	Het
Cd180	A	C	13: 102,842,936 (GRCm39)	I661L	probably benign	Het
Cdk11b	A	G	4: 155,732,008 (GRCm39)	R473G	unknown	Het
Cep126	T	C	9: 8,099,799 (GRCm39)	T912A	possibly damaging	Het
Chek2	T	A	5: 111,021,380 (GRCm39)	V530E	probably benign	Het
Chga	G	T	12: 102,529,100 (GRCm39)	S359I	probably damaging	Het
Cnrip1	T	C	11: 17,004,657 (GRCm39)	V69A	probably damaging	Het
Cyp2a5	A	T	7: 26,542,372 (GRCm39)	Q458L	probably damaging	Het
Cyp2j11	T	A	4: 96,195,524 (GRCm39)	T391S	possibly damaging	Het
Dhx16	T	C	17: 36,199,036 (GRCm39)	L794P	probably damaging	Het
Dscaml1	A	G	9: 45,585,802 (GRCm39)	T580A	probably benign	Het
Elmo1	A	T	13: 20,464,982 (GRCm39)	I184L	probably benign	Het
Gabra1	C	T	11: 42,073,121 (GRCm39)	G51S	unknown	Het
Gabrr3	C	A	16: 59,268,439 (GRCm39)	L351I	possibly damaging	Het
Gbp7	A	T	3: 142,243,786 (GRCm39)	N111I	probably damaging	Het
Gjd2	C	T	2: 113,841,583 (GRCm39)	R298H	probably damaging	Het
Gm5930	T	C	14: 44,573,914 (GRCm39)	Y141C	probably damaging	Het
Grin3a	G	T	4: 49,771,238 (GRCm39)	N511K	probably benign	Het
Hdac7	T	C	15: 97,707,903 (GRCm39)	D122G	probably benign	Het
Ifi204	G	A	1: 173,587,703 (GRCm39)	T152I	possibly damaging	Het
Lrrc9	C	T	12: 72,510,305 (GRCm39)		probably null	Het
Med21	T	A	6: 146,544,082 (GRCm39)		probably benign	Het
Mmp19	A	T	10: 128,634,952 (GRCm39)	T523S	probably benign	Het
Nav3	G	A	10: 109,605,073 (GRCm39)	T1000I	probably benign	Het
Nherf2	T	A	17: 24,869,182 (GRCm39)		probably benign	Het
Nin	T	C	12: 70,090,838 (GRCm39)	D859G		Het
Nip7	T	G	8: 107,783,916 (GRCm39)	L52R	possibly damaging	Het
Or10d1c	A	G	9: 38,893,816 (GRCm39)	Y175H	probably damaging	Het
Or5al5	A	T	2: 85,961,726 (GRCm39)	F94I	probably damaging	Het
Or6b13	A	T	7: 139,782,446 (GRCm39)	V79E	probably benign	Het
Otop1	T	A	5: 38,457,547 (GRCm39)	Y435*	probably null	Het
Pak4	A	G	7: 28,264,381 (GRCm39)	S174P	probably benign	Het
Pcsk7	G	A	9: 45,837,287 (GRCm39)	R537Q	probably benign	Het
Podxl	G	A	6: 31,505,941 (GRCm39)	S34F	unknown	Het
Prr36	G	A	8: 4,266,212 (GRCm39)	R113C	probably damaging	Het
Ptk7	T	C	17: 46,890,525 (GRCm39)	I436V	probably benign	Het
Slc13a5	C	T	11: 72,157,310 (GRCm39)	V28I	probably benign	Het
Slco6d1	A	T	1: 98,349,097 (GRCm39)	D56V	probably benign	Het
Spg11	G	A	2: 121,885,858 (GRCm39)	R2317W	probably damaging	Het
Stom	T	A	2: 35,213,760 (GRCm39)		probably null	Het
Svs5	T	C	2: 164,174,728 (GRCm39)	L8P	possibly damaging	Het
Tmem141	C	A	2: 25,511,626 (GRCm39)	V39F	probably damaging	Het
Tmprss6	A	G	15: 78,344,019 (GRCm39)	L181P	probably damaging	Het
Tnni3	A	G	7: 4,524,379 (GRCm39)	S40P	probably benign	Het
Tubgcp4	A	G	2: 121,024,465 (GRCm39)	I548V	probably benign	Het
Twf2	A	G	9: 106,081,138 (GRCm39)		probably benign	Het
Wnt5b	C	A	6: 119,425,092 (GRCm39)		probably null	Het
Yipf4	T	G	17: 74,796,771 (GRCm39)	S21A	probably benign	Het
Zscan20	A	G	4: 128,481,943 (GRCm39)	M573T	probably benign	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
R5334:Wrap73	UTSW	4	154,229,731 (GRCm39)	missense	probably damaging	0.97
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
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'- GCTTGGAGGTATAGCACATGAC -3'
(R):5'- GGTCACGTGATTTAGGAGGC -3'

Sequencing Primer
(F):5'- GGTATAGCACATGACCAGCAGC -3'
(R):5'- TGACATGCAGGTAGCTCAC -3'

Posted On

2019-09-13