Mutagenetix > Incidental Mutation

Incidental Mutation 'R7790:Wdr49'

599784

Institutional Source

Beutler Lab

Gene Symbol

Wdr49

Ensembl Gene

ENSMUSG00000104301

Gene Name

WD repeat domain 49

Synonyms

EG213248

MMRRC Submission

045846-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R7790 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75182295-75389463 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75182335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 698 (N698I)

Ref Sequence

ENSEMBL: ENSMUSP00000144721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039047] [ENSMUST00000193989]

AlphaFold

A0A0N4SUK7

Predicted Effect

probably benign
Transcript: ENSMUST00000039047

SMART Domains

Protein: ENSMUSP00000046943
Gene: ENSMUSG00000034139

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
SERPIN	31	392	8.75e-130	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193989
AA Change: N698I

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000144721
Gene: ENSMUSG00000104301
AA Change: N698I

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: 99.0%

Validation Efficiency

100% (81/81)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,451,201 (GRCm39)	I136F	possibly damaging	Het
Abca13	A	T	11: 9,247,915 (GRCm39)	K2554M	probably damaging	Het
Ankrd12	C	T	17: 66,291,225 (GRCm39)	D1403N	possibly damaging	Het
Ankrd17	A	G	5: 90,408,011 (GRCm39)	V1402A	possibly damaging	Het
Ankrd36	A	T	11: 5,585,176 (GRCm39)	N329I	possibly damaging	Het
Atr	A	T	9: 95,756,233 (GRCm39)	D815V	probably damaging	Het
C9orf72	T	C	4: 35,192,997 (GRCm39)	D444G	unknown	Het
Ceacam1	T	C	7: 25,173,375 (GRCm39)	Y271C	probably damaging	Het
Cenpo	T	C	12: 4,264,597 (GRCm39)	H265R	probably benign	Het
Chd8	G	A	14: 52,463,539 (GRCm39)	R702W	probably damaging	Het
Ckap5	A	G	2: 91,389,455 (GRCm39)	N309S	probably benign	Het
Cxxc1	C	T	18: 74,350,855 (GRCm39)	R83C	probably damaging	Het
Dcaf6	T	C	1: 165,227,284 (GRCm39)	D281G	probably damaging	Het
Dennd4c	A	G	4: 86,717,754 (GRCm39)	T584A	probably damaging	Het
Drgx	T	A	14: 32,350,845 (GRCm39)	L227Q	probably damaging	Het
Dync2h1	G	T	9: 7,114,914 (GRCm39)	H2415N	probably damaging	Het
Dzip1l	A	G	9: 99,543,015 (GRCm39)	E490G	possibly damaging	Het
Fam124a	T	C	14: 62,843,526 (GRCm39)	S345P	probably benign	Het
Fam83b	G	A	9: 76,399,330 (GRCm39)	T591I	probably benign	Het
Frem1	T	C	4: 82,907,401 (GRCm39)	S838G	probably benign	Het
Fsip2	G	T	2: 82,818,723 (GRCm39)	D4819Y	probably benign	Het
Gm43302	T	G	5: 105,425,691 (GRCm39)	K246T	probably benign	Het
Gml	T	C	15: 74,685,462 (GRCm39)		probably benign	Het
Gpc1	A	T	1: 92,781,171 (GRCm39)	H90L	probably benign	Het
Grik3	T	C	4: 125,579,812 (GRCm39)	L519P	probably damaging	Het
Grwd1	A	G	7: 45,475,438 (GRCm39)	V368A	probably damaging	Het
Gstm3	G	A	3: 107,876,555 (GRCm39)		probably benign	Het
Gtpbp6	A	G	5: 110,252,252 (GRCm39)	S427P	probably damaging	Het
Heatr5b	C	T	17: 79,126,252 (GRCm39)	G560E	probably damaging	Het
Heatr9	A	G	11: 83,409,019 (GRCm39)	V176A	probably damaging	Het
Hsf2bp	A	G	17: 32,253,453 (GRCm39)	V5A	probably benign	Het
Ints3	G	T	3: 90,307,720 (GRCm39)	Q660K	probably benign	Het
Itpr2	A	T	6: 146,126,274 (GRCm39)	L2048Q	probably damaging	Het
Kcnq1	G	A	7: 142,660,342 (GRCm39)		probably null	Het
Lsm12	A	T	11: 102,055,995 (GRCm39)		probably null	Het
Mcoln3	A	G	3: 145,845,247 (GRCm39)	Y481C	probably damaging	Het
Meis3	A	G	7: 15,916,322 (GRCm39)	N266D	probably benign	Het
Mgat5	G	A	1: 127,339,941 (GRCm39)	E441K	probably benign	Het
Mroh6	C	T	15: 75,756,089 (GRCm39)	R689H	probably benign	Het
Mtg1	T	C	7: 139,729,662 (GRCm39)	Y251H	probably damaging	Het
Mtus2	A	T	5: 148,014,998 (GRCm39)	Q597L	probably benign	Het
Myt1	A	G	2: 181,439,390 (GRCm39)	E346G	probably benign	Het
Nat8f4	A	G	6: 85,877,873 (GRCm39)	S217P	probably benign	Het
Ngf	G	A	3: 102,417,140 (GRCm39)	G17R	unknown	Het
Or7e171-ps1	A	T	9: 19,852,980 (GRCm39)	M252K	unknown	Het
Pam	T	C	1: 97,749,572 (GRCm39)	Y968C	probably damaging	Het
Pcdhga7	T	A	18: 37,847,996 (GRCm39)	M1K	probably null	Het
Pde8b	G	T	13: 95,170,679 (GRCm39)	D554E	probably benign	Het
Pdzd7	G	A	19: 45,033,962 (GRCm39)	R41*	probably null	Het
Pkhd1l1	C	T	15: 44,441,977 (GRCm39)	P3639S	probably damaging	Het
Plce1	A	T	19: 38,769,140 (GRCm39)	E2280V	probably damaging	Het
Ryr1	T	C	7: 28,804,257 (GRCm39)	I538V	probably benign	Het
Scaf11	A	G	15: 96,316,942 (GRCm39)	L874P	possibly damaging	Het
Scpep1	G	T	11: 88,824,347 (GRCm39)	D307E	possibly damaging	Het
Septin4	A	G	11: 87,480,065 (GRCm39)	E327G	probably damaging	Het
Skint2	T	G	4: 112,473,751 (GRCm39)	V11G	possibly damaging	Het
Slc26a4	T	C	12: 31,594,482 (GRCm39)	N289D	probably damaging	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,777 (GRCm39)		probably benign	Het
Slx4	T	C	16: 3,804,846 (GRCm39)	E656G	probably benign	Het
Socs5	T	C	17: 87,441,791 (GRCm39)	S244P	probably benign	Het
Spata31h1	C	T	10: 82,123,329 (GRCm39)	C3227Y	probably benign	Het
Speer1e	C	A	5: 11,234,185 (GRCm39)	H30Q	probably benign	Het
Stt3b	A	C	9: 115,105,887 (GRCm39)	L196R	probably damaging	Het
Syne2	T	A	12: 75,975,877 (GRCm39)		probably null	Het
Tab2	T	A	10: 7,796,188 (GRCm39)	N24I	probably damaging	Het
Taf4b	T	C	18: 14,946,331 (GRCm39)	S385P	probably damaging	Het
Tg	T	C	15: 66,721,453 (GRCm39)	Y2720H	probably damaging	Het
Tjap1	C	T	17: 46,569,616 (GRCm39)	G448E	probably benign	Het
Tll1	A	T	8: 64,478,271 (GRCm39)	C827*	probably null	Het
Tlr11	T	A	14: 50,599,382 (GRCm39)	I456K	probably benign	Het
Tmem209	T	C	6: 30,497,854 (GRCm39)	D305G	probably damaging	Het
Tmem82	A	T	4: 141,345,035 (GRCm39)		probably null	Het
Tnfrsf14	A	G	4: 155,007,750 (GRCm39)	V207A	probably benign	Het
Tnks	A	T	8: 35,328,694 (GRCm39)	N625K	probably benign	Het
Tomm20	G	A	8: 127,666,700 (GRCm39)	P58S	possibly damaging	Het
Ttc9b	A	G	7: 27,353,761 (GRCm39)	D137G	probably benign	Het
Ulk4	C	T	9: 121,092,734 (GRCm39)	E168K	possibly damaging	Het
Usp9y	T	A	Y: 1,444,573 (GRCm39)	D122V	probably damaging	Het
Vps41	C	A	13: 19,026,438 (GRCm39)	T512K	possibly damaging	Het
Zfp568	G	A	7: 29,722,150 (GRCm39)	C365Y	probably damaging	Het
Zfp663	A	T	2: 165,194,453 (GRCm39)	C589S	probably damaging	Het
Zfp971	A	G	2: 177,675,292 (GRCm39)	K297R	probably damaging	Het
Zkscan16	G	T	4: 58,951,843 (GRCm39)	E173*	probably null	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
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
R9492:Wdr49	UTSW	3	75,240,669 (GRCm39)	missense	probably damaging	1.00
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'- TGAACTCGGAACAAACACGC -3'
(R):5'- GGGTCTCTTAATAAATGTAATTTCCCT -3'

Sequencing Primer
(F):5'- TCGGAACAAACACGCAGTCTG -3'
(R):5'- CTCTCAGGGTACAGCTATATCAGG -3'

Posted On

2019-11-26