Mutagenetix > Incidental Mutations

Incidental Mutation 'R7255:Wdr26'

564176

Institutional Source

Beutler Lab

Gene Symbol

Wdr26

Ensembl Gene

ENSMUSG00000038733

Gene Name

WD repeat domain 26

Synonyms

Gid7, 1600024A01Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.884) question?

Stock #

R7255 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

181173228-181211552 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 181181324 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 627 (I627R)

Ref Sequence

ENSEMBL: ENSMUSP00000124592 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000162819] [ENSMUST00000162963]

AlphaFold

Q8C6G8

Predicted Effect

probably benign
Transcript: ENSMUST00000036329

SMART Domains

Protein: ENSMUSP00000045177
Gene: ENSMUSG00000038733

Domain	Start	End	E-Value	Type
low complexity region	1	16	N/A	INTRINSIC
low complexity region	43	70	N/A	INTRINSIC
low complexity region	71	83	N/A	INTRINSIC
LisH	100	132	9.73e-1	SMART
Blast:CTLH	133	183	6e-28	BLAST

Predicted Effect

SMART Domains

Protein: ENSMUSP00000123863
Gene: ENSMUSG00000038733
AA Change: I103R

Domain	Start	End	E-Value	Type
WD40	14	56	2.77e-1	SMART
WD40	59	99	3.83e-10	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000125023
Gene: ENSMUSG00000038733
AA Change: I130R

Domain	Start	End	E-Value	Type
Blast:WD40	2	38	4e-12	BLAST
WD40	41	83	2.77e-1	SMART
WD40	86	126	3.83e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162819
AA Change: I627R

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124592
Gene: ENSMUSG00000038733
AA Change: I627R

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
low complexity region	46	73	N/A	INTRINSIC
low complexity region	74	86	N/A	INTRINSIC
LisH	103	135	9.73e-1	SMART
CTLH	136	211	2.41e-5	SMART
low complexity region	276	287	N/A	INTRINSIC
WD40	324	363	4.76e-6	SMART
WD40	370	411	1.35e-5	SMART
WD40	414	454	2.12e-3	SMART
WD40	537	579	2.77e-1	SMART
WD40	582	622	3.83e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162963
AA Change: I611R

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124186
Gene: ENSMUSG00000038733
AA Change: I611R

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
low complexity region	46	73	N/A	INTRINSIC
low complexity region	74	86	N/A	INTRINSIC
LisH	103	135	9.73e-1	SMART
CTLH	136	195	4.97e-7	SMART
low complexity region	260	271	N/A	INTRINSIC
WD40	308	347	4.76e-6	SMART
WD40	354	395	1.35e-5	SMART
WD40	398	438	2.12e-3	SMART
WD40	521	563	2.77e-1	SMART
WD40	566	606	3.83e-10	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (66/68)

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. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	G	A	11: 23,620,465	P145L	probably benign	Het
9530003J23Rik	T	C	10: 117,234,422	H150R	probably benign	Het
Aldh1a7	A	G	19: 20,714,728	S234P	probably damaging	Het
Arhgap28	T	C	17: 67,853,004	H650R	probably damaging	Het
Asic1	A	G	15: 99,697,457	D355G	probably damaging	Het
Atp8b1	T	A	18: 64,556,868	S598C	probably damaging	Het
Bcat1	C	A	6: 145,032,785	E237*	probably null	Het
Btbd16	A	T	7: 130,785,992	I114F	probably benign	Het
Casp2	A	G	6: 42,268,907	D166G	probably damaging	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Cpsf1	G	A	15: 76,597,543	T1099M	probably damaging	Het
Crisp4	C	A	1: 18,130,231	A116S	probably damaging	Het
Cyb5r3	A	G	15: 83,160,165	I168T	probably damaging	Het
Dip2b	G	A	15: 100,209,627	D1407N	probably benign	Het
Dnajc8	A	G	4: 132,551,573	K201R	probably benign	Het
Dock10	C	T	1: 80,543,099		probably null	Het
Dopey2	C	A	16: 93,770,146	H1272N	probably damaging	Het
Dsc1	C	T	18: 20,097,273	R325Q	probably benign	Het
Enpp1	A	T	10: 24,645,315	I838K	possibly damaging	Het
Fcna	T	G	2: 25,626,028	D159A	probably damaging	Het
Flnc	G	T	6: 29,445,766	G840C	probably damaging	Het
Flt1	C	T	5: 147,580,406	A1024T	probably damaging	Het
Galc	T	C	12: 98,246,255	K207R	probably null	Het
Gbp2b	T	A	3: 142,608,117	L386Q	probably damaging	Het
Gm8297	T	A	14: 4,984,874	N48K	probably damaging	Het
Gm9639	G	A	10: 77,794,538	P180L	unknown	Het
Inpp5a	A	G	7: 139,511,448	N116S	probably damaging	Het
Ipo9	T	C	1: 135,385,988	E984G	probably benign	Het
Klra4	A	G	6: 130,059,642	F145L	probably damaging	Het
Lag3	A	G	6: 124,910,235	L123P	probably benign	Het
Med7	T	A	11: 46,440,995	M139K	probably damaging	Het
Mfsd2a	A	C	4: 122,952,021	L153R	possibly damaging	Het
Mup9	A	G	4: 60,421,337	V71A	probably benign	Het
Myo16	A	T	8: 10,499,169	Q927L	unknown	Het
Myo9b	T	C	8: 71,290,891	Y199H	probably damaging	Het
Nefm	A	G	14: 68,116,000	F406L	probably benign	Het
Olfr1123	T	A	2: 87,418,942	L296Q	probably damaging	Het
Olfr1333	A	T	4: 118,829,952	F162I	probably benign	Het
Pamr1	T	C	2: 102,611,584	F173L	probably damaging	Het
Pds5b	T	A	5: 150,796,667	D1205E	probably benign	Het
Plxna2	T	G	1: 194,752,103	F646V	probably benign	Het
Pnrc1	C	T	4: 33,248,045	G118D	probably benign	Het
Ppp1r16b	T	C	2: 158,761,391	F412S	probably benign	Het
Prcc	A	T	3: 87,870,091	V192E	probably damaging	Het
Psg19	A	G	7: 18,794,048	Y257H	probably benign	Het
Rfx7	T	G	9: 72,619,828	S1433R	possibly damaging	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Sbspon	G	T	1: 15,883,797	C86*	probably null	Het
Sdhb	A	G	4: 140,977,418	E230G	possibly damaging	Het
Sema6b	T	C	17: 56,125,336	T581A	probably benign	Het
Shkbp1	G	T	7: 27,342,748	T594K	possibly damaging	Het
Shpk	A	G	11: 73,199,660	S48G	probably benign	Het
Slc1a3	A	G	15: 8,642,999	V332A	possibly damaging	Het
Slc25a25	T	C	2: 32,421,372	E135G	possibly damaging	Het
Slc5a8	A	T	10: 88,909,631	D367V	probably damaging	Het
Slco1c1	A	G	6: 141,569,325	T649A	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spats1	T	A	17: 45,454,205	D163V	probably damaging	Het
Ssh2	T	A	11: 77,425,593	M304K	probably damaging	Het
Sulf1	T	A	1: 12,859,008	D166E	probably benign	Het
Syne1	A	G	10: 5,333,446	S1540P	probably damaging	Het
Tcf7l1	A	T	6: 72,627,347		probably null	Het
Tet1	A	T	10: 62,822,636	M1477K	probably benign	Het
Tlr5	T	C	1: 182,974,316	F395S	probably damaging	Het
Trrap	T	C	5: 144,858,954	L3847P	probably damaging	Het
Tsks	C	T	7: 44,952,688	S276L	probably benign	Het
Uggt1	T	C	1: 36,146,106	E1519G	probably damaging	Het
Vps13a	A	G	19: 16,654,339		probably null	Het
Wdfy4	A	G	14: 32,974,282	V2768A		Het
Zfp160	T	A	17: 21,025,487	S100T	probably benign	Het

Other mutations in Wdr26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01625:Wdr26	APN	1	181191816	missense	possibly damaging	0.86
IGL01941:Wdr26	APN	1	181211070	splice site	probably benign
IGL02612:Wdr26	APN	1	181177796	utr 3 prime	probably benign
IGL02660:Wdr26	APN	1	181198898	missense	probably damaging	1.00
IGL02685:Wdr26	APN	1	181183780	missense	possibly damaging	0.64
IGL02884:Wdr26	APN	1	181182784	missense	probably damaging	1.00
R0396:Wdr26	UTSW	1	181180651	intron	probably benign
R0453:Wdr26	UTSW	1	181182879	nonsense	probably null
R0530:Wdr26	UTSW	1	181186070	splice site	probably null
R0729:Wdr26	UTSW	1	181185905	splice site	probably null
R1170:Wdr26	UTSW	1	181181294	splice site	probably benign
R1466:Wdr26	UTSW	1	181185934	splice site	probably benign
R1830:Wdr26	UTSW	1	181191775	missense	probably damaging	1.00
R2883:Wdr26	UTSW	1	181211120	missense	probably damaging	0.99
R4090:Wdr26	UTSW	1	181203114	missense	probably damaging	1.00
R4097:Wdr26	UTSW	1	181182787	missense	probably benign	0.00
R4953:Wdr26	UTSW	1	181197651	missense	probably damaging	1.00
R5223:Wdr26	UTSW	1	181187686	missense	probably benign	0.07
R5834:Wdr26	UTSW	1	181203147	missense	probably damaging	1.00
R5884:Wdr26	UTSW	1	181187541	intron	probably benign
R6174:Wdr26	UTSW	1	181191868	missense	probably damaging	1.00
R6334:Wdr26	UTSW	1	181203206
R7161:Wdr26	UTSW	1	181203130	missense	probably damaging	1.00
R7406:Wdr26	UTSW	1	181187675	missense	probably damaging	1.00
R7804:Wdr26	UTSW	1	181182822	missense	probably damaging	1.00
R7815:Wdr26	UTSW	1	181209073	missense	probably benign	0.28
R8717:Wdr26	UTSW	1	181184348	missense	possibly damaging	0.92
R9072:Wdr26	UTSW	1	181182786	missense	probably damaging	0.99
R9358:Wdr26	UTSW	1	181191858	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CAAAAGCACAGGCATTAGGC -3'
(R):5'- AACGTGTGTAGTAACGTGGG -3'

Sequencing Primer
(F):5'- GGCATTAGGCTAGCTTACTTTCTTC -3'
(R):5'- GGGGTCAGTGATTTTGTTAATAACAC -3'

Posted On

2019-06-26