Mutagenetix > Incidental Mutations

Incidental Mutation 'R5223:Wdr26'

402404

Institutional Source

Beutler Lab

Gene Symbol

Wdr26

Ensembl Gene

ENSMUSG00000038733

Gene Name

WD repeat domain 26

Synonyms

Gid7, 1600024A01Rik

MMRRC Submission

042796-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.911) question?

Stock #

R5223 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

181173228-181211552 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 181187686 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 371 (I371V)

Ref Sequence

ENSEMBL: ENSMUSP00000124186 (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 benign
Transcript: ENSMUST00000159290

SMART Domains

Protein: ENSMUSP00000123863
Gene: ENSMUSG00000038733

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159625

Predicted Effect

probably benign
Transcript: ENSMUST00000159673

SMART Domains

Protein: ENSMUSP00000125023
Gene: ENSMUSG00000038733

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

noncoding transcript
Transcript: ENSMUST00000159698

Predicted Effect

probably benign
Transcript: ENSMUST00000162819
AA Change: I387V

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000124592
Gene: ENSMUSG00000038733
AA Change: I387V

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: I371V

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000124186
Gene: ENSMUSG00000038733
AA Change: I371V

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: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.2%

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. 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
Aatk	C	T	11: 120,013,452	V273M	possibly damaging	Het
Acin1	CCGC	CC	14: 54,642,941		probably null	Het
Acvr1b	T	A	15: 101,193,976	C46S	probably damaging	Het
Ahi1	A	T	10: 20,970,919	H416L	possibly damaging	Het
Aspm	T	A	1: 139,478,334	L1653Q	probably damaging	Het
Cacna1a	G	A	8: 84,587,195	V1533M	possibly damaging	Het
Ccdc33	C	T	9: 58,032,984	E502K	possibly damaging	Het
Ctnnd1	C	T	2: 84,616,789	V371M	probably damaging	Het
Cyp2a12	A	T	7: 27,036,463		probably null	Het
Ep400	A	G	5: 110,668,630	V2675A	probably damaging	Het
Foxh1	T	A	15: 76,668,729		probably null	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Gm10093	A	G	17: 78,492,438	E286G	probably benign	Het
Gm13078	T	A	4: 143,728,021	S296R	probably benign	Het
Gpnmb	C	T	6: 49,056,205	T539M	probably benign	Het
Hspa9	A	G	18: 34,952,671		probably null	Het
Hspg2	T	C	4: 137,543,914	L2454P	probably damaging	Het
Ift140	T	A	17: 25,035,812	I422N	probably benign	Het
Igkv6-32	T	C	6: 70,074,223	S50G	probably benign	Het
Il23r	T	A	6: 67,486,170	Y113F	probably benign	Het
Kcnt1	A	G	2: 25,903,422	D636G	probably benign	Het
Klhl41	G	A	2: 69,679,827	W569*	probably null	Het
Klra4	T	A	6: 130,062,147	D94V	probably damaging	Het
Lca5	T	A	9: 83,398,613	H378L	probably benign	Het
Lhx8	T	A	3: 154,321,644	T254S	probably damaging	Het
Lrch3	C	T	16: 32,914,397	R86W	probably damaging	Het
Lrp2	T	A	2: 69,524,053	N477I	probably damaging	Het
Man2a1	T	A	17: 64,712,271	I710K	probably benign	Het
Ncor1	A	T	11: 62,339,000	Y881N	probably damaging	Het
Nhsl1	T	A	10: 18,526,326	V1100E	probably damaging	Het
Olfr1208	T	C	2: 88,897,334	T88A	probably benign	Het
Olfr486	A	G	7: 108,172,708	V12A	probably benign	Het
Olfr855	T	C	9: 19,585,026	V163A	probably benign	Het
Oprk1	T	C	1: 5,589,296	V83A	probably benign	Het
Pacs1	C	T	19: 5,145,141	V472I	probably benign	Het
Pard3b	T	C	1: 62,344,113	Y789H	probably damaging	Het
Pcdha2	T	C	18: 36,940,791	Y492H	probably damaging	Het
Pcnt	T	C	10: 76,380,272	N2261D	probably damaging	Het
Pex5l	A	T	3: 32,958,796	S15T	probably damaging	Het
Plekhg4	A	G	8: 105,378,949	N682S	probably benign	Het
Poc5	A	T	13: 96,402,955	M335L	probably benign	Het
Polr1a	C	T	6: 71,967,907	R1316W	possibly damaging	Het
Pp2d1	T	C	17: 53,507,845	H617R	probably benign	Het
Prpsap1	T	C	11: 116,488,148	K65E	probably benign	Het
Ptgfrn	T	C	3: 101,045,593	E775G	probably benign	Het
Ptprc	T	A	1: 138,117,862	I87F	probably benign	Het
Rbbp8	C	A	18: 11,721,690	A324E	probably benign	Het
Rfx6	G	T	10: 51,677,996	G63*	probably null	Het
Rpl37a	T	C	1: 72,712,149	M47T	probably benign	Het
Samm50	T	G	15: 84,200,630	N187K	probably benign	Het
Skiv2l	A	G	17: 34,845,166		probably null	Het
Slamf9	T	C	1: 172,476,232	I48T	possibly damaging	Het
Slc2a12	A	G	10: 22,702,032	K576E	probably damaging	Het
Slc4a10	G	A	2: 62,253,366	G388S	probably damaging	Het
Smtn	G	T	11: 3,529,530	N512K	probably benign	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Sspo	A	G	6: 48,478,324	Y3040C	probably damaging	Het
Stat1	T	A	1: 52,144,242	V389E	probably damaging	Het
Sult5a1	A	T	8: 123,145,422	M227K	probably damaging	Het
Thsd4	T	C	9: 60,057,042	D389G	probably damaging	Het
Tnxb	T	C	17: 34,704,078	V2545A	possibly damaging	Het
Tpo	T	A	12: 30,092,590	I712F	probably damaging	Het
Trim62	T	C	4: 128,909,411	V418A	probably damaging	Het
Uqcrc1	C	A	9: 108,942,156	H95N	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r66	T	C	7: 85,007,885	D104G	probably benign	Het
Wdr78	T	A	4: 103,049,403	S738C	possibly damaging	Het
Zfp273	T	G	13: 67,826,179	C475W	probably damaging	Het
Zfp738	G	T	13: 67,673,063	T55K	probably damaging	Het
Zmym2	A	G	14: 56,946,514	I978V	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCAGCCCTTAAACGGATTTCTTG -3'
(R):5'- TTGGCACAGAAACCTGAGGC -3'

Sequencing Primer
(F):5'- CCTCAAAGTCAAAGATCTGAGTGCTG -3'
(R):5'- GCACAAATGAGACTATCAGTGTAC -3'

Posted On

2016-07-22