Mutagenetix > Incidental Mutation

Incidental Mutation 'R1349:Wdr35'

156613

Institutional Source

Beutler Lab

Gene Symbol

Wdr35

Ensembl Gene

ENSMUSG00000066643

Gene Name

WD repeat domain 35

Synonyms

4930459M12Rik

MMRRC Submission

039414-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1349 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8973892-9028847 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 9019870 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085745] [ENSMUST00000111113]

AlphaFold

Q8BND3

Predicted Effect

probably benign
Transcript: ENSMUST00000085745

SMART Domains

Protein: ENSMUSP00000082895
Gene: ENSMUSG00000066643

Domain	Start	End	E-Value	Type
WD40	5	42	8.25e0	SMART
WD40	60	99	3.21e-1	SMART
WD40	104	143	2.21e1	SMART
WD40	147	184	1.06e2	SMART
Blast:WD40	246	289	6e-18	BLAST
Blast:WD40	292	330	2e-12	BLAST
Blast:WD40	465	530	4e-15	BLAST
Blast:WD40	533	571	1e-14	BLAST
low complexity region	1069	1078	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111113

SMART Domains

Protein: ENSMUSP00000106742
Gene: ENSMUSG00000066643

Domain	Start	End	E-Value	Type
WD40	5	42	8.25e0	SMART
WD40	60	99	3.21e-1	SMART
WD40	104	143	2.21e1	SMART
WD40	147	184	1.06e2	SMART
Blast:WD40	246	289	6e-18	BLAST
Blast:WD40	292	330	2e-12	BLAST
Blast:WD40	454	519	4e-15	BLAST
Blast:WD40	522	560	2e-14	BLAST
low complexity region	1058	1067	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159735

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161019

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.8%

Validation Efficiency

98% (46/47)

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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for an ENU induced mutation exhibit mid-gestation lethality, heart development defects, turning defects, polysyndactyly, hypoplastic lungs, tracheoesophageal fistula, herniated diaphragm and absent embryonic cilia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	G	A	8: 124,861,253	T36I	possibly damaging	Het
Adcy2	T	A	13: 68,668,533	N778I	probably damaging	Het
Ak5	G	T	3: 152,533,434	D301E	probably damaging	Het
Akap13	G	A	7: 75,609,592	G655S	possibly damaging	Het
Ankrd28	A	T	14: 31,745,261	M248K	probably benign	Het
Atf7ip2	G	A	16: 10,234,331	V225I	probably damaging	Het
Ccdc151	C	T	9: 21,993,620	R290H	probably damaging	Het
Ccdc157	A	T	11: 4,149,056	I48N	probably benign	Het
Cd209d	C	A	8: 3,878,515		probably benign	Het
Cecr2	G	A	6: 120,757,603	G613E	probably damaging	Het
Clspn	C	T	4: 126,563,977	A98V	probably benign	Het
Cntnap5b	G	A	1: 100,164,088	D499N	probably benign	Het
Cox7a2	G	A	9: 79,758,537	R21*	probably null	Het
Cul9	C	G	17: 46,522,175	A1326P	probably damaging	Het
Dbpht2	C	CNNNNNNNNNNNNNNNNNN	12: 74,299,062		noncoding transcript	Het
Dlg1	T	C	16: 31,812,820	I208T	probably damaging	Het
Dmxl1	A	T	18: 49,888,853	N1612Y	probably damaging	Het
Epha3	A	G	16: 63,611,053	I495T	possibly damaging	Het
Frem1	T	C	4: 82,922,305		probably benign	Het
Glipr1	A	G	10: 111,993,532	V108A	probably benign	Het
Gm4778	A	G	3: 94,266,128	T148A	possibly damaging	Het
Gpatch2l	T	C	12: 86,260,709	L287P	possibly damaging	Het
Hp	T	G	8: 109,575,306	K337Q	probably benign	Het
Htr1a	T	A	13: 105,445,366	C371*	probably null	Het
Leo1	T	C	9: 75,449,469	V377A	possibly damaging	Het
Lsg1	A	G	16: 30,564,654	F583L	possibly damaging	Het
Map4k4	C	A	1: 40,021,159	P1103Q	probably damaging	Het
Mybph	T	C	1: 134,193,615	S38P	probably benign	Het
Myo1e	T	G	9: 70,287,069		probably benign	Het
Nefh	T	TNNNNNNNNNNNNNNNNNN	11: 4,941,010		probably benign	Het
Oca2	T	A	7: 56,535,968	M814K	probably benign	Het
Pkd1	T	C	17: 24,575,266	C1976R	probably damaging	Het
Pogz	T	A	3: 94,860,888	L126M	probably damaging	Het
Rec8	T	C	14: 55,618,974	Y68H	probably damaging	Het
Ryr3	T	A	2: 112,834,201	S1582C	probably damaging	Het
Sh3pxd2a	A	T	19: 47,267,721	W853R	probably damaging	Het
Slc6a7	C	T	18: 61,000,543	G527D	probably benign	Het
Tgm1	A	G	14: 55,711,201		probably benign	Het
Tnxb	T	C	17: 34,710,293	V2770A	possibly damaging	Het
Togaram1	T	A	12: 65,011,145	M1502K	probably damaging	Het
Vmn1r11	G	A	6: 57,137,978	C209Y	probably benign	Het
Vmn2r102	A	T	17: 19,660,625		probably benign	Het
Vmn2r12	T	C	5: 109,086,586	M587V	probably benign	Het
Vmn2r63	A	G	7: 42,929,218	F84L	possibly damaging	Het
Wdr73	C	A	7: 80,893,252	V176L	probably damaging	Het

Other mutations in Wdr35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Wdr35	APN	12	9019900	missense	probably benign
IGL00962:Wdr35	APN	12	9021726	splice site	probably benign
IGL01094:Wdr35	APN	12	9005838	splice site	probably benign
IGL01312:Wdr35	APN	12	9008655	missense	probably damaging	1.00
IGL01397:Wdr35	APN	12	9008550	missense	probably benign	0.04
IGL01490:Wdr35	APN	12	8977381	missense	probably damaging	0.98
IGL02153:Wdr35	APN	12	9008535	missense	probably null	0.04
IGL02319:Wdr35	APN	12	9027480	unclassified	probably benign
IGL02548:Wdr35	APN	12	9024297	missense	probably benign	0.00
IGL02941:Wdr35	APN	12	9027507	missense	probably damaging	0.98
IGL03038:Wdr35	APN	12	8974185	splice site	probably benign
IGL03086:Wdr35	APN	12	9008692	splice site	probably null
IGL03207:Wdr35	APN	12	8989936	missense	probably damaging	0.98
IGL03327:Wdr35	APN	12	8978694	splice site	probably benign
R0362:Wdr35	UTSW	12	8995625	unclassified	probably benign
R0464:Wdr35	UTSW	12	9027472	unclassified	probably benign
R0487:Wdr35	UTSW	12	9012743	critical splice donor site	probably null
R0976:Wdr35	UTSW	12	8986104	missense	probably benign	0.03
R1663:Wdr35	UTSW	12	9020000	missense	probably benign	0.00
R1769:Wdr35	UTSW	12	9012728	missense	probably damaging	1.00
R1779:Wdr35	UTSW	12	8985772	missense	possibly damaging	0.62
R1789:Wdr35	UTSW	12	8977435	critical splice donor site	probably null
R1893:Wdr35	UTSW	12	8985994	missense	probably benign
R2076:Wdr35	UTSW	12	9024281	missense	possibly damaging	0.88
R2228:Wdr35	UTSW	12	8974955	missense	possibly damaging	0.65
R2280:Wdr35	UTSW	12	8978628	missense	probably benign	0.01
R2281:Wdr35	UTSW	12	8978628	missense	probably benign	0.01
R2863:Wdr35	UTSW	12	9028060	nonsense	probably null
R3713:Wdr35	UTSW	12	9027648	missense	possibly damaging	0.68
R3911:Wdr35	UTSW	12	8986077	missense	probably benign
R3934:Wdr35	UTSW	12	9008014	missense	probably damaging	1.00
R4360:Wdr35	UTSW	12	8974149	utr 5 prime	probably benign
R4402:Wdr35	UTSW	12	8989981	missense	probably damaging	0.98
R4473:Wdr35	UTSW	12	9015995	missense	probably benign	0.00
R4656:Wdr35	UTSW	12	9016619	missense	probably benign	0.00
R4780:Wdr35	UTSW	12	9018150	missense	probably benign
R5092:Wdr35	UTSW	12	8987327	missense	probably damaging	1.00
R5160:Wdr35	UTSW	12	9008487	missense	probably damaging	0.99
R5184:Wdr35	UTSW	12	9018142	missense	probably damaging	1.00
R5346:Wdr35	UTSW	12	8978684	missense	probably benign	0.00
R5435:Wdr35	UTSW	12	8989951	missense	probably benign	0.01
R5472:Wdr35	UTSW	12	9016619	missense	probably benign	0.00
R5682:Wdr35	UTSW	12	8981125	missense	probably damaging	1.00
R5801:Wdr35	UTSW	12	9006723	missense	possibly damaging	0.92
R5990:Wdr35	UTSW	12	9016511	missense	probably damaging	1.00
R6196:Wdr35	UTSW	12	9027632	missense	probably benign	0.05
R6531:Wdr35	UTSW	12	8978685	missense	probably benign	0.00
R6746:Wdr35	UTSW	12	9003982	splice site	probably null
R6816:Wdr35	UTSW	12	9027724	critical splice donor site	probably null
R6863:Wdr35	UTSW	12	8990047	missense	probably damaging	0.97
R7088:Wdr35	UTSW	12	8978659	missense	probably benign	0.11
R7140:Wdr35	UTSW	12	9022785	missense	probably damaging	0.98
R7327:Wdr35	UTSW	12	8987312	missense	probably benign	0.10
R7403:Wdr35	UTSW	12	9012685	missense	probably damaging	0.98
R7422:Wdr35	UTSW	12	9004105	missense	probably benign	0.00
R7438:Wdr35	UTSW	12	9022785	missense	probably damaging	0.98
R7466:Wdr35	UTSW	12	9005773	missense	probably benign
R7491:Wdr35	UTSW	12	8986000	missense	probably benign	0.00
R7599:Wdr35	UTSW	12	9024886	missense	probably benign	0.01
R7620:Wdr35	UTSW	12	9016042	missense	probably benign	0.04
R7857:Wdr35	UTSW	12	9008113	critical splice donor site	probably null
R8289:Wdr35	UTSW	12	9008020	missense	probably benign	0.00
R8302:Wdr35	UTSW	12	9028110	missense	probably benign	0.09
R8433:Wdr35	UTSW	12	9008495	missense	probably damaging	1.00
R8479:Wdr35	UTSW	12	8985985	missense	probably benign	0.04
R8498:Wdr35	UTSW	12	9008626	missense	probably damaging	0.97
R8721:Wdr35	UTSW	12	9025044	critical splice donor site	probably null
R9220:Wdr35	UTSW	12	8986000	missense	possibly damaging	0.49
R9368:Wdr35	UTSW	12	9021826	missense	probably benign	0.00
R9573:Wdr35	UTSW	12	9028014	missense	probably benign	0.00
R9596:Wdr35	UTSW	12	8986092	missense	probably benign	0.08
R9773:Wdr35	UTSW	12	8989990	missense	probably benign	0.03
X0066:Wdr35	UTSW	12	8990029	missense	probably benign	0.04

Predicted Primers

Posted On

2014-02-11