Mutagenetix > Incidental Mutation

Incidental Mutation 'R9717:Wdr49'

730508

Institutional Source

Beutler Lab

Gene Symbol

Wdr49

Ensembl Gene

ENSMUSG00000104301

Gene Name

WD repeat domain 49

Synonyms

EG213248

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R9717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75274988-75482156 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75397052 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 109 (T109I)

Ref Sequence

ENSEMBL: ENSMUSP00000144721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000193989] [ENSMUST00000203169] [ENSMUST00000204341]

AlphaFold

A0A0N4SUK7

Predicted Effect

probably benign
Transcript: ENSMUST00000193989
AA Change: T109I

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000144721
Gene: ENSMUSG00000104301
AA Change: T109I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000203169
AA Change: T450I

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000144789
Gene: ENSMUSG00000104301
AA Change: T450I

Domain	Start	End	E-Value	Type
WD40	136	176	2e-1	SMART
WD40	178	224	1.8e0	SMART
WD40	312	353	5.1e-1	SMART
WD40	358	396	1.3e-2	SMART
WD40	400	439	2e-6	SMART
Blast:WD40	486	511	1e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000204341
AA Change: T387I

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000145379
Gene: ENSMUSG00000104301
AA Change: T387I

Domain	Start	End	E-Value	Type
WD40	73	113	3.18e1	SMART
WD40	115	161	2.74e2	SMART
WD40	249	290	7.92e1	SMART
WD40	295	333	1.99e0	SMART
WD40	337	376	3.05e-4	SMART
Blast:WD40	423	448	1e-7	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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 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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,520,781	N2552I	probably damaging	Het
Amph	G	T	13: 19,125,083	A444S	probably benign	Het
Ankrd52	A	G	10: 128,380,588	N157S	probably benign	Het
Arhgap29	T	C	3: 122,004,271	F537L	probably benign	Het
Asic1	A	C	15: 99,692,776	T136P	probably damaging	Het
Atg2b	T	C	12: 105,639,302	Y1468C	probably benign	Het
Atm	A	G	9: 53,516,517	L431P	probably damaging	Het
Btaf1	A	G	19: 36,945,246	T17A	probably benign	Het
Car10	A	G	11: 93,304,541	N58S	probably benign	Het
Cd79b	A	T	11: 106,312,019	D252E	probably damaging	Het
Cdipt	C	T	7: 126,977,030		probably benign	Het
Cebpe	T	C	14: 54,711,708	D84G	probably damaging	Het
Cenpj	T	C	14: 56,552,996	E532G	probably benign	Het
Cherp	A	G	8: 72,463,076		probably null	Het
Chuk	T	C	19: 44,082,670	D532G	possibly damaging	Het
Clec1b	C	T	6: 129,397,640	T9I	probably benign	Het
Clspn	G	T	4: 126,564,963	A280S	possibly damaging	Het
Cts3	T	G	13: 61,564,985	Y307S	probably benign	Het
Cyp2c39	T	C	19: 39,568,049	M443T	possibly damaging	Het
Dhx57	C	T	17: 80,275,018	R386H	probably damaging	Het
Dhx58	A	T	11: 100,701,307	M305K	probably benign	Het
Dlgap3	T	C	4: 127,235,494	L894P	probably damaging	Het
Dnah3	A	T	7: 119,975,076	N2164K	probably damaging	Het
Dnajb14	A	G	3: 137,902,283	N183S	probably benign	Het
Drd5	G	T	5: 38,320,747	R361L	probably damaging	Het
Duoxa1	T	C	2: 122,305,141	E159G	probably damaging	Het
Exoc1	T	A	5: 76,563,232	S659R	probably benign	Het
Fam214b	T	C	4: 43,036,050	H227R	probably damaging	Het
Fbln7	T	C	2: 128,877,394	I37T	probably benign	Het
Fcgrt	T	G	7: 45,095,429	E205A	possibly damaging	Het
Fcho2	A	T	13: 98,763,694	S304T	probably damaging	Het
Gbp9	C	A	5: 105,105,721	G43*	probably null	Het
Gm21671	T	C	5: 25,949,831	E257G	probably damaging	Het
Gucy2d	A	G	7: 98,474,661	K151R	probably benign	Het
Heatr4	T	A	12: 83,978,055	I331F	probably damaging	Het
Hmcn1	G	A	1: 150,609,627	T4408I	probably damaging	Het
Hoxc9	C	T	15: 102,982,119	T156M	probably benign	Het
Hrnr	A	T	3: 93,320,680	E35V	probably damaging	Het
Idua	C	T	5: 108,670,171	Q70*	probably null	Het
Klf5	A	T	14: 99,301,753	I201F	probably damaging	Het
Lonrf1	T	C	8: 36,234,010	K349E	probably damaging	Het
Lrp1b	A	T	2: 41,268,383	D1721E		Het
Mdh1	T	A	11: 21,571,870		probably benign	Het
Mllt11	T	C	3: 95,220,210	H83R	probably benign	Het
Mrgprb4	A	C	7: 48,198,835	I115S	possibly damaging	Het
Mrpl38	A	G	11: 116,132,470	F319S	probably damaging	Het
Naif1	A	T	2: 32,454,895	M204L	probably benign	Het
Ncan	T	A	8: 70,101,978	D1063V	probably damaging	Het
Noto	A	T	6: 85,424,345	R119W	possibly damaging	Het
Olfr1220	G	A	2: 89,097,229	L233F	probably benign	Het
Olfr147	A	T	9: 38,403,545	I224F	probably damaging	Het
Olfr573-ps1	A	T	7: 102,941,958	D206E	probably damaging	Het
Olfr816	T	A	10: 129,912,179	Y33F	probably damaging	Het
Ovch2	A	G	7: 107,794,377	W181R	probably damaging	Het
Palm	G	C	10: 79,819,283	G292R	probably damaging	Het
Pdgfrb	T	A	18: 61,072,715	L591*	probably null	Het
Pik3c2g	T	C	6: 139,896,184	S772P		Het
Prx	C	A	7: 27,517,986	D776E	probably benign	Het
Ptpra	A	G	2: 130,542,446	E562G	possibly damaging	Het
Rbm4b	A	G	19: 4,757,331	Y25C	probably damaging	Het
Reln	T	C	5: 21,931,429	T2534A	probably benign	Het
Rnf123	T	C	9: 108,077,764	S14G	probably benign	Het
Rock2	A	G	12: 16,965,601	H833R	probably benign	Het
Rxfp3	A	G	15: 11,037,025	V87A	possibly damaging	Het
S100b	G	A	10: 76,257,102	G23D	probably damaging	Het
Scn9a	T	A	2: 66,526,658	M1100L	probably benign	Het
Sept11	T	A	5: 93,148,407	S55T	possibly damaging	Het
Sv2b	T	A	7: 75,119,928	Q622L	probably benign	Het
Taar7a	T	C	10: 23,992,901	D194G	probably benign	Het
Trappc3	T	C	4: 126,275,221	I168T	probably benign	Het
Trim27	T	C	13: 21,190,126		probably null	Het
Wdr64	T	C	1: 175,717,288	Y96H	probably damaging	Het
Zfp219	A	T	14: 52,009,592	L26Q	probably damaging	Het
Zfp758	T	A	17: 22,374,848	V105D	possibly damaging	Het
Zfp975	C	G	7: 42,662,908	E94Q	possibly damaging	Het
Zfyve9	C	T	4: 108,682,137	A289T	probably benign	Het
Zscan5b	T	C	7: 6,231,526	S184P	possibly damaging	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
R6024:Wdr49	UTSW	3	75301826	missense	probably benign	0.02
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
R9183:Wdr49	UTSW	3	75298112	missense	probably benign	0.08
R9213:Wdr49	UTSW	3	75298112	missense	probably benign	0.08
R9374:Wdr49	UTSW	3	75323624	missense	probably benign
R9492:Wdr49	UTSW	3	75333362	missense	probably damaging	1.00
R9552:Wdr49	UTSW	3	75323624	missense	probably benign
R9595:Wdr49	UTSW	3	75358440	missense	probably damaging	1.00
R9655:Wdr49	UTSW	3	75333254	missense	probably damaging	1.00
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'- GAAAGGAAACCCTGACCTTGG -3'
(R):5'- GAAGTCACTTGCTGTAGAGGC -3'

Sequencing Primer
(F):5'- GAAGAACTCGTATTTACCTGTTTCAG -3'
(R):5'- TCACTTGCTGTAGAGGCGACAAC -3'

Posted On

2022-10-06