Mutagenetix > Incidental Mutation

Incidental Mutation 'R9072:Wdr26'

700779

Institutional Source

Beutler Lab

Gene Symbol

Wdr26

Ensembl Gene

ENSMUSG00000038733

Gene Name

WD repeat domain 26

Synonyms

Gid7, 1600024A01Rik

MMRRC Submission

068894-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.881) question?

Stock #

R9072 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

181000793-181039566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 181010351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 566 (I566N)

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: I42N

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: I69N

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 damaging
Transcript: ENSMUST00000162819
AA Change: I566N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124592
Gene: ENSMUSG00000038733
AA Change: I566N

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: I550N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124186
Gene: ENSMUSG00000038733
AA Change: I550N

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

Meta Mutation Damage Score

0.9391

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (63/63)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,240,834 (GRCm39)	E899A	possibly damaging	Het
Best2	T	A	8: 85,737,418 (GRCm39)	I230F	probably damaging	Het
C2cd2	T	C	16: 97,676,403 (GRCm39)	E448G	probably damaging	Het
C2cd3	T	G	7: 100,040,291 (GRCm39)	S287A	probably benign	Het
Camta2	G	A	11: 70,567,234 (GRCm39)	P677S	probably benign	Het
Cand2	C	T	6: 115,769,490 (GRCm39)	R767C	probably damaging	Het
Celsr3	G	A	9: 108,704,293 (GRCm39)	E259K	probably benign	Het
Cep250	C	G	2: 155,834,035 (GRCm39)	Q1987E	probably benign	Het
Chn1	T	C	2: 73,443,430 (GRCm39)	D440G	probably benign	Het
Cmbl	A	T	15: 31,585,449 (GRCm39)	D111V	possibly damaging	Het
Col5a3	T	A	9: 20,682,453 (GRCm39)	I1664F	unknown	Het
Cp	T	C	3: 20,033,158 (GRCm39)	S662P	possibly damaging	Het
Cpne5	G	A	17: 29,430,677 (GRCm39)	R78C	probably damaging	Het
Cst5	A	G	2: 149,249,261 (GRCm39)	T104A	probably benign	Het
Cyp11b2	A	G	15: 74,725,662 (GRCm39)	F195S	possibly damaging	Het
Dcaf17	T	C	2: 70,920,136 (GRCm39)	Y475H	probably benign	Het
Edem2	G	C	2: 155,571,212 (GRCm39)	L16V	unknown	Het
Eeig1	A	G	2: 32,455,674 (GRCm39)	S267G	probably benign	Het
Ext2	A	G	2: 93,644,144 (GRCm39)	W46R	probably benign	Het
Gal3st3	T	A	19: 5,352,605 (GRCm39)	S11T	probably benign	Het
Garin5b	A	T	7: 4,762,253 (GRCm39)	H265Q		Het
Gfi1	T	A	5: 107,865,725 (GRCm39)	I451F	possibly damaging	Het
Gfpt2	T	C	11: 49,714,185 (GRCm39)	L314P	probably damaging	Het
Gm3250	A	T	10: 77,618,127 (GRCm39)	C84S	unknown	Het
Hmcn1	A	T	1: 150,565,320 (GRCm39)	V2269E	probably benign	Het
Ighv1-55	T	C	12: 115,172,013 (GRCm39)	H18R	probably benign	Het
Iqgap3	G	A	3: 87,998,883 (GRCm39)	G328E	probably benign	Het
Klf6	G	T	13: 5,917,233 (GRCm39)	C303F	probably benign	Het
Klhl35	A	T	7: 99,122,129 (GRCm39)	S77C	probably damaging	Het
Ktn1	T	G	14: 47,941,694 (GRCm39)	V822G	probably benign	Het
Lbhd2	G	T	12: 111,375,040 (GRCm39)	G21W	probably damaging	Het
Lrp1b	G	A	2: 40,615,457 (GRCm39)	R3649*	probably null	Het
Map2	C	A	1: 66,453,312 (GRCm39)	T734N	probably damaging	Het
Mas1	A	G	17: 13,060,839 (GRCm39)	F195L	possibly damaging	Het
Med1	A	T	11: 98,080,009 (GRCm39)	M44K	possibly damaging	Het
Morc3	T	C	16: 93,667,482 (GRCm39)	V620A	probably benign	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Naip2	C	T	13: 100,291,459 (GRCm39)	D1160N	probably benign	Het
Nucb2	T	A	7: 116,125,631 (GRCm39)	I159N	probably damaging	Het
Olfm5	A	G	7: 103,802,984 (GRCm39)	L493P	probably benign	Het
Or1e1	T	G	11: 73,244,797 (GRCm39)	F73V	probably damaging	Het
Or2ag15	A	T	7: 106,340,759 (GRCm39)	C127*	probably null	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Pcdhb22	T	A	18: 37,651,813 (GRCm39)	C94S	probably damaging	Het
Pcdhga5	A	G	18: 37,829,537 (GRCm39)	I662V	probably benign	Het
Plcb2	G	A	2: 118,547,878 (GRCm39)	T472M	possibly damaging	Het
Plcb4	A	G	2: 135,849,795 (GRCm39)	E1142G	possibly damaging	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Polr2l	T	C	7: 141,053,285 (GRCm39)	Y43C	probably damaging	Het
Prkcb	T	A	7: 122,127,771 (GRCm39)	N298K	probably benign	Het
Ptar1	T	A	19: 23,695,414 (GRCm39)	C294S	probably benign	Het
Ptprq	T	C	10: 107,401,736 (GRCm39)	I1919V		Het
Slc25a18	C	T	6: 120,769,022 (GRCm39)	R180C	probably benign	Het
Slc27a3	A	C	3: 90,295,768 (GRCm39)	S285R	probably damaging	Het
Smg1	C	T	7: 117,783,032 (GRCm39)	V1092I	unknown	Het
Spata19	T	G	9: 27,309,024 (GRCm39)	I54R	possibly damaging	Het
St6galnac5	T	C	3: 152,551,956 (GRCm39)	T204A	probably benign	Het
Tdpoz8	T	A	3: 92,981,341 (GRCm39)	C46S	probably benign	Het
Trpc3	T	C	3: 36,694,831 (GRCm39)	I708V	probably benign	Het
Ttn	T	C	2: 76,775,183 (GRCm39)	E1999G	unknown	Het
Ube3b	C	T	5: 114,542,607 (GRCm39)	T488M	probably damaging	Het
Vmn1r235	A	T	17: 21,482,271 (GRCm39)	I199F	probably benign	Het
Vsig8	A	T	1: 172,388,340 (GRCm39)	N215Y	possibly damaging	Het
Wapl	A	G	14: 34,399,417 (GRCm39)	K162R	possibly damaging	Het
Wdpcp	A	G	11: 21,614,014 (GRCm39)	T60A	probably benign	Het
Wdr46	C	T	17: 34,163,555 (GRCm39)	T371M	probably benign	Het
Zdbf2	T	C	1: 63,344,923 (GRCm39)	S1101P	possibly damaging	Het

Other mutations in Wdr26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01625:Wdr26	APN	1	181,019,381 (GRCm39)	missense	possibly damaging	0.86
IGL01941:Wdr26	APN	1	181,038,635 (GRCm39)	splice site	probably benign
IGL02612:Wdr26	APN	1	181,005,361 (GRCm39)	utr 3 prime	probably benign
IGL02660:Wdr26	APN	1	181,026,463 (GRCm39)	missense	probably damaging	1.00
IGL02685:Wdr26	APN	1	181,011,345 (GRCm39)	missense	possibly damaging	0.64
IGL02884:Wdr26	APN	1	181,010,349 (GRCm39)	missense	probably damaging	1.00
R0396:Wdr26	UTSW	1	181,008,216 (GRCm39)	intron	probably benign
R0453:Wdr26	UTSW	1	181,010,444 (GRCm39)	nonsense	probably null
R0530:Wdr26	UTSW	1	181,013,635 (GRCm39)	splice site	probably null
R0729:Wdr26	UTSW	1	181,013,470 (GRCm39)	splice site	probably null
R1170:Wdr26	UTSW	1	181,008,859 (GRCm39)	splice site	probably benign
R1466:Wdr26	UTSW	1	181,013,499 (GRCm39)	splice site	probably benign
R1830:Wdr26	UTSW	1	181,019,340 (GRCm39)	missense	probably damaging	1.00
R2883:Wdr26	UTSW	1	181,038,685 (GRCm39)	missense	probably damaging	0.99
R4090:Wdr26	UTSW	1	181,030,679 (GRCm39)	missense	probably damaging	1.00
R4097:Wdr26	UTSW	1	181,010,352 (GRCm39)	missense	probably benign	0.00
R4953:Wdr26	UTSW	1	181,025,216 (GRCm39)	missense	probably damaging	1.00
R5223:Wdr26	UTSW	1	181,015,251 (GRCm39)	missense	probably benign	0.07
R5834:Wdr26	UTSW	1	181,030,712 (GRCm39)	missense	probably damaging	1.00
R5884:Wdr26	UTSW	1	181,015,106 (GRCm39)	intron	probably benign
R6174:Wdr26	UTSW	1	181,019,433 (GRCm39)	missense	probably damaging	1.00
R6334:Wdr26	UTSW	1	181,030,771 (GRCm39)
R7161:Wdr26	UTSW	1	181,030,695 (GRCm39)	missense	probably damaging	1.00
R7255:Wdr26	UTSW	1	181,008,889 (GRCm39)	missense	probably benign	0.24
R7406:Wdr26	UTSW	1	181,015,240 (GRCm39)	missense	probably damaging	1.00
R7804:Wdr26	UTSW	1	181,010,387 (GRCm39)	missense	probably damaging	1.00
R7815:Wdr26	UTSW	1	181,036,638 (GRCm39)	missense	probably benign	0.28
R8717:Wdr26	UTSW	1	181,011,913 (GRCm39)	missense	possibly damaging	0.92
R9358:Wdr26	UTSW	1	181,019,423 (GRCm39)	missense	probably damaging	0.98
R9520:Wdr26	UTSW	1	181,036,587 (GRCm39)	missense	probably benign	0.06
R9523:Wdr26	UTSW	1	181,013,620 (GRCm39)	missense	probably benign	0.38
R9719:Wdr26	UTSW	1	181,015,224 (GRCm39)	missense	possibly damaging	0.89
R9793:Wdr26	UTSW	1	181,036,812 (GRCm39)	missense	probably damaging	0.98
R9795:Wdr26	UTSW	1	181,036,812 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CCTTGGGTTCCATCACCAAC -3'
(R):5'- ACTGCTAGGGCTACAGAGTTGAG -3'

Sequencing Primer
(F):5'- TTGGGTTCCATCACCAACAATAC -3'
(R):5'- TGAGCTGTCTCAGAAAACAGC -3'

Posted On

2022-02-07