Mutagenetix > Incidental Mutations

Incidental Mutation 'R6024:Wdr49'

479073

Institutional Source

Beutler Lab

Gene Symbol

Wdr49

Ensembl Gene

ENSMUSG00000104301

Gene Name

WD repeat domain 49

Synonyms

EG213248

MMRRC Submission

044196-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R6024 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75274988-75482156 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 75301826 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 612 (E612D)

Ref Sequence

ENSEMBL: ENSMUSP00000144721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000193989]

Predicted Effect

probably benign
Transcript: ENSMUST00000193989
AA Change: E612D

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000144721
Gene: ENSMUSG00000104301
AA Change: E612D

Domain	Start	End	E-Value	Type
WD40	17	55	1.3e-2	SMART
WD40	59	98	2e-6	SMART
WD40	145	184	2.5e-2	SMART
WD40	187	228	3.6e-8	SMART
WD40	281	318	8.7e-6	SMART
WD40	365	412	2.2e-1	SMART
WD40	415	455	8.4e-4	SMART
WD40	471	512	3.1e-2	SMART
Blast:SERPIN	608	673	7e-12	BLAST

Meta Mutation Damage Score

0.0701

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

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 with nine WD repeats. 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,476,505	F3782L	probably benign	Het
Akr1d1	T	C	6: 37,558,482	I267T	probably benign	Het
Arhgef5	T	C	6: 43,275,134	S940P	probably benign	Het
Art2b	A	G	7: 101,580,380	I104T	probably benign	Het
Avpr1a	A	G	10: 122,449,148	Y115C	probably damaging	Het
Ccdc84	T	C	9: 44,417,952	T13A	possibly damaging	Het
Cdc42bpg	T	A	19: 6,317,496	L995Q	probably damaging	Het
Clip1	T	C	5: 123,615,089	K210E	possibly damaging	Het
Cog4	C	T	8: 110,881,480	T735I	probably damaging	Het
Creb3l4	G	A	3: 90,238,699	S206L	probably damaging	Het
Csf3r	C	A	4: 126,037,517		probably null	Het
Dnah11	G	T	12: 118,030,272	S2346R	probably benign	Het
Dnaic2	A	T	11: 114,752,908	I467F	possibly damaging	Het
Doxl2	A	T	6: 48,976,096	K318N	possibly damaging	Het
Dpy19l4	A	T	4: 11,276,876	M523K	probably damaging	Het
Ebf3	T	C	7: 137,200,535	D407G	probably damaging	Het
Fbn2	A	G	18: 58,076,836	I991T	probably benign	Het
Gcc1	T	C	6: 28,419,300	T345A	probably benign	Het
Gm1527	C	T	3: 28,920,603	H522Y	probably benign	Het
Gm340	C	A	19: 41,583,957	P384T	possibly damaging	Het
Gm4846	T	A	1: 166,490,127	Y240F	probably benign	Het
Hmgcl	T	C	4: 135,955,615	V126A	probably benign	Het
Ifit1bl2	G	T	19: 34,620,038	S59R	probably benign	Het
Itga6	A	G	2: 71,787,233	N32S	probably benign	Het
Macc1	T	C	12: 119,450,425	S779P	probably benign	Het
Mctp1	G	T	13: 76,385,161	L209F	probably damaging	Het
Mink1	A	G	11: 70,599,089	N97S	possibly damaging	Het
Mst1r	T	A	9: 107,908,151	V336E	probably benign	Het
Muc16	A	T	9: 18,646,671	S2775R	unknown	Het
Muc6	T	A	7: 141,641,574	T1316S	possibly damaging	Het
Myh11	T	A	16: 14,277,703	N65I	probably damaging	Het
Myo9a	A	G	9: 59,855,388	N801D	possibly damaging	Het
Nkain2	A	T	10: 31,951,285	M103K	probably damaging	Het
Nkx2-2	T	A	2: 147,184,041	Y259F	probably benign	Het
Nrxn1	T	C	17: 90,590,098	M877V	possibly damaging	Het
Nxf1	C	T	19: 8,767,744	L453F	probably damaging	Het
Pcnt	T	C	10: 76,420,037	S790G	possibly damaging	Het
Phf3	T	C	1: 30,863,226	D2G	probably damaging	Het
Phrf1	T	C	7: 141,258,985		probably benign	Het
Ptpn3	C	A	4: 57,248,653		probably null	Het
Pygl	T	C	12: 70,197,067	T625A	probably benign	Het
R3hdm2	T	A	10: 127,459,480	F239I	probably damaging	Het
Sesn1	A	T	10: 41,896,200	I242F	probably damaging	Het
Shank2	C	T	7: 144,180,031	T105I	probably benign	Het
Skint3	T	C	4: 112,290,346	F350S	possibly damaging	Het
Slco5a1	T	C	1: 12,944,070	Y320C	probably damaging	Het
Syt11	A	G	3: 88,762,109	S159P	probably benign	Het
Tanc2	G	A	11: 105,867,717	R768Q	probably damaging	Het
Tanc2	T	C	11: 105,923,672	S1981P	probably damaging	Het
Tmem200c	A	C	17: 68,841,727	D435A	possibly damaging	Het
Trappc8	A	G	18: 20,833,009	V1125A	probably damaging	Het
Ttn	A	G	2: 76,814,143	V4762A	possibly damaging	Het
Unc5d	A	G	8: 28,875,511	S149P	possibly damaging	Het
Usf3	A	T	16: 44,219,840	N1561I	probably damaging	Het
Wdr4	A	T	17: 31,501,298		probably benign	Het

Other mutations in Wdr49

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0266:Wdr49	UTSW	3	75451796	missense	possibly damaging	0.80
R0432:Wdr49	UTSW	3	75450022	missense	possibly damaging	0.70
R0599:Wdr49	UTSW	3	75431076	splice site	probably null
R0599:Wdr49	UTSW	3	75449890	splice site	probably null
R0948:Wdr49	UTSW	3	75450851	missense	probably benign	0.06
R1341:Wdr49	UTSW	3	75429333	missense	probably damaging	1.00
R1526:Wdr49	UTSW	3	75396920	missense	probably benign	0.03
R1593:Wdr49	UTSW	3	75396941	missense	probably benign	0.00
R1603:Wdr49	UTSW	3	75396870	nonsense	probably null
R1874:Wdr49	UTSW	3	75429347	missense	probably damaging	1.00
R2986:Wdr49	UTSW	3	75382040	missense	probably benign	0.11
R3013:Wdr49	UTSW	3	75450847	missense	probably damaging	0.96
R3025:Wdr49	UTSW	3	75333356	missense	possibly damaging	0.94
R4027:Wdr49	UTSW	3	75323665	missense	probably benign	0.05
R4029:Wdr49	UTSW	3	75323665	missense	probably benign	0.05
R4030:Wdr49	UTSW	3	75323665	missense	probably benign	0.05
R4031:Wdr49	UTSW	3	75323665	missense	probably benign	0.05
R4578:Wdr49	UTSW	3	75335243	missense	probably benign	0.00
R6141:Wdr49	UTSW	3	75323682	missense	probably benign
R6172:Wdr49	UTSW	3	75298180	missense	probably damaging	1.00
R6263:Wdr49	UTSW	3	75481517	missense	possibly damaging	0.84
R6501:Wdr49	UTSW	3	75339458	missense	probably benign	0.01
R6584:Wdr49	UTSW	3	75337758	missense	probably benign	0.01
R6698:Wdr49	UTSW	3	75429366	missense	probably benign	0.01
R6891:Wdr49	UTSW	3	75333283	splice site	probably null
R7202:Wdr49	UTSW	3	75333273	missense	probably benign	0.11
R7214:Wdr49	UTSW	3	75358444	missense	possibly damaging	0.63
R7572:Wdr49	UTSW	3	75358437	missense	possibly damaging	0.94
R7575:Wdr49	UTSW	3	75450886	missense	probably damaging	0.96
R7673:Wdr49	UTSW	3	75450907	missense	probably damaging	1.00
R7790:Wdr49	UTSW	3	75275028	missense	probably benign	0.16
R7958:Wdr49	UTSW	3	75431147	missense	probably benign	0.08
R8444:Wdr49	UTSW	3	75451690	missense	probably benign	0.00
Z1176:Wdr49	UTSW	3	75451533	missense	probably damaging	1.00
Z1177:Wdr49	UTSW	3	75449903	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATAAGCCCAAGATTTACCTTCCTC -3'
(R):5'- GCTATCACTTGGGTAGCTGAC -3'

Sequencing Primer
(F):5'- CCCAAGATTTACCTTCCTCTTTTATC -3'
(R):5'- CACTTGGGTAGCTGACATTTTATTC -3'

Posted On

2017-06-26