Mutagenetix > Incidental Mutation

Incidental Mutation 'R7161:Wdr26'

557549

Institutional Source

Beutler Lab

Gene Symbol

Wdr26

Ensembl Gene

ENSMUSG00000038733

Gene Name

WD repeat domain 26

Synonyms

Gid7, 1600024A01Rik

MMRRC Submission

045260-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.829) question?

Stock #

R7161 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

181173228-181211552 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 181203130 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 200 (Y200H)

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

probably damaging
Transcript: ENSMUST00000162819
AA Change: Y200H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124592
Gene: ENSMUSG00000038733
AA Change: Y200H

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 damaging
Transcript: ENSMUST00000162963
AA Change: Y184H

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

SMART Domains

Protein: ENSMUSP00000124186
Gene: ENSMUSG00000038733
AA Change: Y184H

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	A	2: 130,806,788	R258L	unknown	Het
Abca8a	T	A	11: 110,074,142	Q443L	probably benign	Het
Acad12	A	T	5: 121,607,373	M285K	probably damaging	Het
Afdn	T	A	17: 13,888,946	M1592K	possibly damaging	Het
Bpifb9b	A	T	2: 154,313,615	T345S	possibly damaging	Het
Bub1b	A	G	2: 118,626,053	E526G	probably damaging	Het
Car13	A	G	3: 14,645,208	D70G	probably benign	Het
Ccdc127	A	T	13: 74,352,877	L4F	probably damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Ccr10	A	G	11: 101,174,278	I142T	probably benign	Het
Cep126	C	T	9: 8,087,399	V1005M	probably benign	Het
Chil6	A	G	3: 106,394,412	I124T	probably benign	Het
Coq8a	A	G	1: 180,170,341		probably null	Het
Ctf2	T	A	7: 127,719,304	K174N	probably damaging	Het
Dapk1	T	C	13: 60,696,395	V76A	possibly damaging	Het
Disp1	A	G	1: 183,087,625	M1077T	possibly damaging	Het
Dnah9	T	A	11: 65,855,372	K3972*	probably null	Het
Dusp7	T	A	9: 106,368,915	S40T	unknown	Het
Emg1	T	C	6: 124,705,749	T88A	probably benign	Het
Fbxo5	A	G	10: 5,802,043	V190A	possibly damaging	Het
Fbxw20	T	G	9: 109,225,980	D167A	probably damaging	Het
Fes	A	T	7: 80,380,861	V562E	probably damaging	Het
Foxj1	C	G	11: 116,332,408	G190R	probably damaging	Het
Gatsl2	C	A	5: 134,135,190	T75N	probably damaging	Het
Gdf15	T	G	8: 70,631,342	S91R	possibly damaging	Het
Gm4846	C	A	1: 166,487,010	V355F	probably damaging	Het
Herc4	T	A	10: 63,308,415	Y776N	probably benign	Het
Hspg2	G	A	4: 137,514,719	R588H	probably damaging	Het
Igkv6-25	T	A	6: 70,215,778	Y56*	probably null	Het
Itpr1	C	T	6: 108,386,640	A741V	probably damaging	Het
Kbtbd8	T	A	6: 95,126,696	I519K	probably benign	Het
Kcnh5	T	A	12: 74,897,709	Q922L	probably benign	Het
Kiss1r	T	C	10: 79,919,489	Y103H	probably damaging	Het
Knl1	A	G	2: 119,070,785	E989G	possibly damaging	Het
Lamc1	A	T	1: 153,226,454	L1466Q	probably damaging	Het
Lap3	C	T	5: 45,498,467	P138L	probably benign	Het
Lhx1	G	A	11: 84,519,872	P300S	probably damaging	Het
Mppe1	G	A	18: 67,229,771	A131V	probably benign	Het
Neb	A	T	2: 52,271,592	Y2063N	probably damaging	Het
Nfe2l1	A	G	11: 96,817,720	F740L	probably benign	Het
Nop10	A	G	2: 112,262,046	N8S	probably benign	Het
Olfr1097	A	C	2: 86,890,649	H175Q	probably benign	Het
Opalin	T	A	19: 41,069,935	T20S	possibly damaging	Het
Pask	C	T	1: 93,310,905	S1286N	probably benign	Het
Pcdhgc4	A	T	18: 37,815,663	E44V	probably damaging	Het
Pde1a	A	G	2: 79,865,214	M463T	probably benign	Het
Pde6a	A	T	18: 61,281,525	M714L	probably benign	Het
Pik3c2b	A	G	1: 133,106,112	E1618G	probably damaging	Het
Pou2f3	T	C	9: 43,139,363	N234S	probably damaging	Het
Ptprm	T	A	17: 66,809,627	T886S	probably benign	Het
Rab11fip3	C	A	17: 26,069,090	D30Y	probably benign	Het
Rassf10	A	T	7: 112,954,500	I103F	probably damaging	Het
Rfc4	A	G	16: 23,115,433	I206T	probably benign	Het
Rhcg	A	G	7: 79,617,441	F29S	probably damaging	Het
Sec11c	A	G	18: 65,812,732	I89V	probably benign	Het
Serac1	T	C	17: 6,065,076	D204G	probably damaging	Het
Serpinb3c	T	C	1: 107,273,162	N175S	probably null	Het
Slc25a19	C	T	11: 115,616,547	E250K	possibly damaging	Het
Slc9a8	A	T	2: 167,465,383	Y329F	possibly damaging	Het
Smagp	T	C	15: 100,636,245		probably benign	Het
Spats1	T	A	17: 45,449,169	Q268H	probably benign	Het
Spef2	T	C	15: 9,717,603	T219A	probably benign	Het
Spink13	A	G	18: 62,614,955	M11T	probably benign	Het
Susd1	T	C	4: 59,329,581	D669G	possibly damaging	Het
Svep1	A	G	4: 58,128,859	Y613H	possibly damaging	Het
Tcp10b	T	C	17: 13,081,746	*439Q	probably null	Het
Tmed2	T	A	5: 124,546,920	M133K	possibly damaging	Het
Trpv5	A	T	6: 41,660,536	Y370*	probably null	Het
Ttn	A	G	2: 76,812,244	S13316P	probably damaging	Het
Uap1l1	A	T	2: 25,363,280	M381K	probably damaging	Het
Wdr78	G	A	4: 103,096,616	P129S	probably benign	Het
Zfhx4	A	T	3: 5,244,083	M790L	possibly damaging	Het
Zscan25	T	C	5: 145,286,441	L173P	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
R7255:Wdr26	UTSW	1	181181324	missense	probably benign	0.24
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
R9520:Wdr26	UTSW	1	181209022	missense	probably benign	0.06
R9523:Wdr26	UTSW	1	181186055	missense	probably benign	0.38
R9719:Wdr26	UTSW	1	181187659	missense	possibly damaging	0.89
R9793:Wdr26	UTSW	1	181209247	missense	probably damaging	0.98
R9795:Wdr26	UTSW	1	181209247	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGGAGTCTAAGAACCCCACTTCC -3'
(R):5'- GCCTTGAGCAGTCATATTTAACCTAC -3'

Sequencing Primer
(F):5'- TTCCTTACCCACTAAAGACATGGATG -3'
(R):5'- GACTCGCAAACCAGATATTTTGAGTC -3'

Posted On

2019-06-26