Mutagenetix > Incidental Mutation

Incidental Mutation 'R7815:Wdr26'

601441

Institutional Source

Beutler Lab

Gene Symbol

Wdr26

Ensembl Gene

ENSMUSG00000038733

Gene Name

WD repeat domain 26

Synonyms

Gid7, 1600024A01Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.881) question?

Stock #

R7815 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

181000793-181039566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 181036638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 166 (V166A)

Ref Sequence

ENSEMBL: ENSMUSP00000124186 (fasta)

Gene Model

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

AlphaFold

Q8C6G8

Predicted Effect

SMART Domains

Protein: ENSMUSP00000045177
Gene: ENSMUSG00000038733
AA Change: V162A

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: ENSMUST00000162819
AA Change: V166A

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124592
Gene: ENSMUSG00000038733
AA Change: V166A

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: V166A

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124186
Gene: ENSMUSG00000038733
AA Change: V166A

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: 99.7%
20x: 99.1%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	G	19: 43,818,866 (GRCm39)	D1285G	probably benign	Het
Abcc9	A	G	6: 142,598,331 (GRCm39)	V669A	probably damaging	Het
Ajap1	C	A	4: 153,517,288 (GRCm39)	G18C	probably damaging	Het
Alms1	G	T	6: 85,592,340 (GRCm39)	M397I	probably benign	Het
Ampd2	A	T	3: 107,982,247 (GRCm39)	M794K	probably benign	Het
Ankrd35	A	T	3: 96,592,117 (GRCm39)	Q801L	probably damaging	Het
Casz1	A	T	4: 149,013,762 (GRCm39)	I109F	possibly damaging	Het
Ces5a	G	A	8: 94,247,623 (GRCm39)	S297F	possibly damaging	Het
Col7a1	A	G	9: 108,798,633 (GRCm39)	D1762G	probably damaging	Het
Dsp	A	T	13: 38,375,446 (GRCm39)	Y1077F	probably benign	Het
Eef2k	A	G	7: 120,457,793 (GRCm39)	N51D	probably benign	Het
Erbb4	A	G	1: 68,081,885 (GRCm39)	Y1050H	probably damaging	Het
Fpgt	A	T	3: 154,792,289 (GRCm39)	S579R	probably benign	Het
Gabra4	T	A	5: 71,815,152 (GRCm39)	M1L	possibly damaging	Het
Galk2	G	A	2: 125,817,321 (GRCm39)	S370N	probably damaging	Het
Gpr155	T	A	2: 73,192,904 (GRCm39)	T516S	probably benign	Het
Homez	T	C	14: 55,095,675 (GRCm39)	N11S	probably benign	Het
Hspg2	G	A	4: 137,239,775 (GRCm39)	G494D	probably damaging	Het
Htr3b	C	T	9: 48,856,833 (GRCm39)	R215Q	probably benign	Het
Igfbp4	A	G	11: 98,932,654 (GRCm39)	E111G	probably benign	Het
Igkv8-19	T	C	6: 70,318,420 (GRCm39)	T5A	probably benign	Het
Insrr	A	G	3: 87,716,002 (GRCm39)	K566E	probably damaging	Het
Iqsec3	A	G	6: 121,450,317 (GRCm39)	V69A	probably benign	Het
Kdm5d	T	C	Y: 940,702 (GRCm39)	V1071A	probably damaging	Het
Kif28	A	G	1: 179,563,548 (GRCm39)	C143R	probably damaging	Het
Kpna6	T	C	4: 129,551,590 (GRCm39)	M65V	probably benign	Het
L3mbtl3	T	C	10: 26,156,276 (GRCm39)	S669G	unknown	Het
Man1a2	A	T	3: 100,563,495 (GRCm39)	I50N	probably damaging	Het
Map3k11	A	T	19: 5,745,667 (GRCm39)	M356L	possibly damaging	Het
Meioc	A	T	11: 102,566,414 (GRCm39)	N677Y	probably damaging	Het
Myom3	A	T	4: 135,528,674 (GRCm39)	K1108M	possibly damaging	Het
Nav1	C	T	1: 135,512,377 (GRCm39)	E228K	possibly damaging	Het
Ncapd3	G	A	9: 26,974,736 (GRCm39)	W736*	probably null	Het
Nfkb1	T	C	3: 135,309,552 (GRCm39)	D514G	probably damaging	Het
Nnt	T	A	13: 119,494,111 (GRCm39)	T657S	possibly damaging	Het
Or4k5	A	G	14: 50,386,253 (GRCm39)	F26S	probably benign	Het
Or51b4	A	G	7: 103,530,992 (GRCm39)	S153P	probably benign	Het
Oser1	A	T	2: 163,253,336 (GRCm39)	S58T	possibly damaging	Het
Pcdha5	T	A	18: 37,094,556 (GRCm39)	I355N	possibly damaging	Het
Pllp	C	G	8: 95,402,804 (GRCm39)	G99A	probably damaging	Het
Pram1	A	G	17: 33,861,106 (GRCm39)	N509S	probably benign	Het
Prkd1	A	C	12: 50,472,300 (GRCm39)	N204K	probably damaging	Het
Prss23	G	A	7: 89,159,253 (GRCm39)	P272L	probably damaging	Het
Pxdn	T	C	12: 30,055,824 (GRCm39)	F1057L	probably damaging	Het
Rapgef5	T	A	12: 117,719,702 (GRCm39)	S777R	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rfx3	A	T	19: 27,803,448 (GRCm39)	M265K	probably benign	Het
S100a7a	C	A	3: 90,565,119 (GRCm39)	H105N	probably benign	Het
Serpinb3b	T	C	1: 107,084,625 (GRCm39)	D132G	probably damaging	Het
Sp7	T	A	15: 102,274,822 (GRCm39)		probably benign	Het
Tacstd2	A	G	6: 67,512,140 (GRCm39)	F184S	possibly damaging	Het
Trdc	C	A	14: 54,381,259 (GRCm39)		probably benign	Het
Trpa1	T	A	1: 14,974,486 (GRCm39)	H232L	probably benign	Het
Trpc3	G	T	3: 36,709,294 (GRCm39)	T394K	probably benign	Het
Tuba3b	G	A	6: 145,566,847 (GRCm39)	V363I	possibly damaging	Het
Tubb2a	C	A	13: 34,258,962 (GRCm39)	R276L	probably benign	Het
Ubap2l	A	T	3: 89,951,071 (GRCm39)	L72*	probably null	Het
Vps13a	A	T	19: 16,702,936 (GRCm39)	D672E	probably damaging	Het
Wwox	T	C	8: 115,438,776 (GRCm39)	S281P	probably damaging	Het
Xirp2	G	A	2: 67,339,756 (GRCm39)	G666R	probably damaging	Het
Zfp131	T	C	13: 120,237,516 (GRCm39)	K247E	probably 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
R8717:Wdr26	UTSW	1	181,011,913 (GRCm39)	missense	possibly damaging	0.92
R9072:Wdr26	UTSW	1	181,010,351 (GRCm39)	missense	probably damaging	0.99
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'- TTATCAACAGCACTAAAAGCAGGAG -3'
(R):5'- TCATGTCATGGAAGGAGACTG -3'

Sequencing Primer
(F):5'- GACATTTACTAAGCATGACTTA -3'
(R):5'- TGTCATGGAAGGAGACTGGGATAAG -3'

Posted On

2019-12-03