Mutagenetix > Incidental Mutation

Incidental Mutation 'R9492:Wdr49'

716972

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: 0.079) question?

Stock #

R9492 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75182295-75389463 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75240669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 400 (V400A)

Ref Sequence

ENSEMBL: ENSMUSP00000144721 (fasta)

Gene Model

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

AlphaFold

A0A0N4SUK7

Predicted Effect

probably damaging
Transcript: ENSMUST00000193989
AA Change: V400A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144721
Gene: ENSMUSG00000104301
AA Change: V400A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	C	1: 120,078,472 (GRCm39)	K43T	probably damaging	Het
Abca12	A	G	1: 71,297,380 (GRCm39)	V2370A	possibly damaging	Het
Abca13	T	A	11: 9,243,667 (GRCm39)	C1843*	probably null	Het
Abr	C	T	11: 76,399,751 (GRCm39)	S82N	probably benign	Het
Acot2	T	C	12: 84,039,384 (GRCm39)	S298P	probably benign	Het
Acrbp	A	G	6: 125,038,062 (GRCm39)	D421G	probably benign	Het
Adam25	A	T	8: 41,206,736 (GRCm39)	M1L	probably benign	Het
Ano8	A	G	8: 71,934,784 (GRCm39)	V441A	possibly damaging	Het
Aoc1l1	T	C	6: 48,955,540 (GRCm39)	S717P	probably benign	Het
Atg2b	T	C	12: 105,624,549 (GRCm39)	H650R	probably benign	Het
Atp11a	C	T	8: 12,894,490 (GRCm39)	T695I	probably damaging	Het
AU018091	A	G	7: 3,214,023 (GRCm39)	S74P	probably benign	Het
Cadps2	A	G	6: 23,427,238 (GRCm39)	Y597H	probably benign	Het
Ccdc15	C	T	9: 37,215,665 (GRCm39)	E619K	probably damaging	Het
Ceacam11	G	T	7: 17,709,468 (GRCm39)	C222F	probably benign	Het
Cmya5	T	C	13: 93,177,822 (GRCm39)	*3677W	probably null	Het
Col11a1	G	C	3: 114,005,752 (GRCm39)	C1628S	probably benign	Het
Dhx8	T	C	11: 101,654,808 (GRCm39)	I1032T	possibly damaging	Het
Dpp10	T	C	1: 123,281,159 (GRCm39)	D630G	probably damaging	Het
Eci3	C	T	13: 35,143,976 (GRCm39)	G50R	probably benign	Het
Eif2a	A	G	3: 58,448,475 (GRCm39)	T103A	probably benign	Het
Frem1	T	C	4: 82,920,057 (GRCm39)	E432G	probably damaging	Het
Gdnf	C	T	15: 7,840,423 (GRCm39)		probably benign	Het
Hace1	T	A	10: 45,547,230 (GRCm39)	M471K	probably benign	Het
Hydin	A	G	8: 111,326,877 (GRCm39)	T4739A	possibly damaging	Het
Ilf2	A	G	3: 90,394,570 (GRCm39)	I320V	probably benign	Het
Iqgap3	C	A	3: 88,016,176 (GRCm39)	F986L	probably damaging	Het
Klhl21	T	C	4: 152,093,419 (GRCm39)	L7S	probably benign	Het
Lrrc61	G	T	6: 48,545,761 (GRCm39)	E195*	probably null	Het
Maz	G	T	7: 126,622,292 (GRCm39)	A443E	possibly damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mtor	T	A	4: 148,568,801 (GRCm39)	L1107Q	probably damaging	Het
Nectin3	T	C	16: 46,215,511 (GRCm39)	H494R	probably benign	Het
Nlgn1	G	T	3: 25,488,480 (GRCm39)	Y618*	probably null	Het
Nup98	C	T	7: 101,778,252 (GRCm39)	E1372K	probably benign	Het
Or12e9	A	G	2: 87,201,960 (GRCm39)	N28S	probably benign	Het
Or5af1	T	C	11: 58,722,610 (GRCm39)	V210A	probably benign	Het
Otud6b	A	G	4: 14,818,349 (GRCm39)	I184T	probably damaging	Het
Pcsk6	A	G	7: 65,697,346 (GRCm39)	N891S	probably benign	Het
Pde4a	T	A	9: 21,106,096 (GRCm39)	L237Q	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pou3f1	A	G	4: 124,552,179 (GRCm39)	H227R	possibly damaging	Het
Prss53	G	A	7: 127,488,802 (GRCm39)	R31C	probably damaging	Het
Psmb8	T	A	17: 34,417,435 (GRCm39)	D21E	probably benign	Het
Ptprq	A	G	10: 107,478,813 (GRCm39)	Y1277H	probably damaging	Het
Rexo2	T	C	9: 48,380,176 (GRCm39)	T219A	probably benign	Het
Rfc3	A	G	5: 151,566,411 (GRCm39)	F346S	probably damaging	Het
Rhoq	A	T	17: 87,304,373 (GRCm39)	Q168L		Het
Sgk1	A	G	10: 21,874,096 (GRCm39)	N452S	probably damaging	Het
Slc35f3	A	G	8: 127,048,026 (GRCm39)	K122R	probably damaging	Het
Slc4a2	T	A	5: 24,644,761 (GRCm39)	M1021K	probably benign	Het
Sorcs2	A	G	5: 36,186,484 (GRCm39)	V886A	probably benign	Het
Spata20	T	A	11: 94,374,444 (GRCm39)	M308L	probably damaging	Het
Spen	A	T	4: 141,199,098 (GRCm39)	H3176Q	probably benign	Het
Stat5b	T	A	11: 100,692,361 (GRCm39)	H141L	probably benign	Het
Syne2	T	A	12: 75,995,839 (GRCm39)	H2126Q	possibly damaging	Het
Traj46	A	G	14: 54,409,851 (GRCm39)	T20A		Het
Trim30a	G	T	7: 104,078,330 (GRCm39)	Q249K	probably damaging	Het
Trmt13	A	G	3: 116,388,281 (GRCm39)	Y52H	probably benign	Het
Trpv3	A	G	11: 73,187,267 (GRCm39)	I700V	probably damaging	Het
Tyr	G	A	7: 87,121,704 (GRCm39)	H363Y	probably damaging	Het
Tyr	C	G	7: 87,121,705 (GRCm39)	M362I	possibly damaging	Het
Ubb	G	A	11: 62,442,984 (GRCm39)	V5M	probably damaging	Het
Unc5a	T	C	13: 55,150,288 (GRCm39)	L519P	probably damaging	Het
Uso1	A	G	5: 92,315,191 (GRCm39)	D185G	possibly damaging	Het
Vmn1r228	C	T	17: 20,996,862 (GRCm39)	E219K	probably damaging	Het
Zfp292	A	G	4: 34,810,794 (GRCm39)	M755T	probably benign	Het

Other mutations in Wdr49

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0266:Wdr49	UTSW	3	75,359,103 (GRCm39)	missense	possibly damaging	0.80
R0432:Wdr49	UTSW	3	75,357,329 (GRCm39)	missense	possibly damaging	0.70
R0599:Wdr49	UTSW	3	75,357,197 (GRCm39)	splice site	probably null
R0599:Wdr49	UTSW	3	75,338,383 (GRCm39)	splice site	probably null
R0948:Wdr49	UTSW	3	75,358,158 (GRCm39)	missense	probably benign	0.06
R1341:Wdr49	UTSW	3	75,336,640 (GRCm39)	missense	probably damaging	1.00
R1526:Wdr49	UTSW	3	75,304,227 (GRCm39)	missense	probably benign	0.03
R1593:Wdr49	UTSW	3	75,304,248 (GRCm39)	missense	probably benign	0.00
R1603:Wdr49	UTSW	3	75,304,177 (GRCm39)	nonsense	probably null
R1874:Wdr49	UTSW	3	75,336,654 (GRCm39)	missense	probably damaging	1.00
R2986:Wdr49	UTSW	3	75,289,347 (GRCm39)	missense	probably benign	0.11
R3013:Wdr49	UTSW	3	75,358,154 (GRCm39)	missense	probably damaging	0.96
R3025:Wdr49	UTSW	3	75,240,663 (GRCm39)	missense	possibly damaging	0.94
R4027:Wdr49	UTSW	3	75,230,972 (GRCm39)	missense	probably benign	0.05
R4029:Wdr49	UTSW	3	75,230,972 (GRCm39)	missense	probably benign	0.05
R4030:Wdr49	UTSW	3	75,230,972 (GRCm39)	missense	probably benign	0.05
R4031:Wdr49	UTSW	3	75,230,972 (GRCm39)	missense	probably benign	0.05
R4578:Wdr49	UTSW	3	75,242,550 (GRCm39)	missense	probably benign	0.00
R6024:Wdr49	UTSW	3	75,209,133 (GRCm39)	missense	probably benign	0.02
R6141:Wdr49	UTSW	3	75,230,989 (GRCm39)	missense	probably benign
R6172:Wdr49	UTSW	3	75,205,487 (GRCm39)	missense	probably damaging	1.00
R6263:Wdr49	UTSW	3	75,388,824 (GRCm39)	missense	possibly damaging	0.84
R6501:Wdr49	UTSW	3	75,246,765 (GRCm39)	missense	probably benign	0.01
R6584:Wdr49	UTSW	3	75,245,065 (GRCm39)	missense	probably benign	0.01
R6698:Wdr49	UTSW	3	75,336,673 (GRCm39)	missense	probably benign	0.01
R6891:Wdr49	UTSW	3	75,240,590 (GRCm39)	splice site	probably null
R7202:Wdr49	UTSW	3	75,240,580 (GRCm39)	missense	probably benign	0.11
R7214:Wdr49	UTSW	3	75,265,751 (GRCm39)	missense	possibly damaging	0.63
R7572:Wdr49	UTSW	3	75,265,744 (GRCm39)	missense	possibly damaging	0.94
R7575:Wdr49	UTSW	3	75,358,193 (GRCm39)	missense	probably damaging	0.96
R7673:Wdr49	UTSW	3	75,358,214 (GRCm39)	missense	probably damaging	1.00
R7790:Wdr49	UTSW	3	75,182,335 (GRCm39)	missense	probably benign	0.16
R7958:Wdr49	UTSW	3	75,338,454 (GRCm39)	missense	probably benign	0.08
R8444:Wdr49	UTSW	3	75,358,997 (GRCm39)	missense	probably benign	0.00
R9183:Wdr49	UTSW	3	75,205,419 (GRCm39)	missense	probably benign	0.08
R9213:Wdr49	UTSW	3	75,205,419 (GRCm39)	missense	probably benign	0.08
R9374:Wdr49	UTSW	3	75,230,931 (GRCm39)	missense	probably benign
R9552:Wdr49	UTSW	3	75,230,931 (GRCm39)	missense	probably benign
R9595:Wdr49	UTSW	3	75,265,747 (GRCm39)	missense	probably damaging	1.00
R9655:Wdr49	UTSW	3	75,240,561 (GRCm39)	missense	probably damaging	1.00
R9717:Wdr49	UTSW	3	75,304,359 (GRCm39)	missense	probably benign	0.17
Z1176:Wdr49	UTSW	3	75,358,840 (GRCm39)	missense	probably damaging	1.00
Z1177:Wdr49	UTSW	3	75,357,210 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGACTCACATCACTAGCTACC -3'
(R):5'- CGCTTGTGTACATGTCCAATGG -3'

Sequencing Primer
(F):5'- ATCTCCAGTGGCAAGGTA -3'
(R):5'- GTACATGTCCAATGGTTTATCATGG -3'

Posted On

2022-07-18