Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00236:Wdr35'

2195

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr35

Ensembl Gene

ENSMUSG00000066643

Gene Name

WD repeat domain 35

Synonyms

4930459M12Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00236

Quality Score

Status

Chromosome

Chromosomal Location

9023897-9078848 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 9069900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 813 (V813I)

Ref Sequence

ENSEMBL: ENSMUSP00000106742 (fasta)

Gene Model

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

AlphaFold

Q8BND3

Predicted Effect

probably benign
Transcript: ENSMUST00000085745
AA Change: V824I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000082895
Gene: ENSMUSG00000066643
AA Change: V824I

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
AA Change: V813I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106742
Gene: ENSMUSG00000066643
AA Change: V813I

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

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. 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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh1	A	G	12: 87,490,467 (GRCm39)	V43A	probably damaging	Het
Ankrd17	A	T	5: 90,381,787 (GRCm39)	S2460T	probably damaging	Het
Ap4e1	T	C	2: 126,870,201 (GRCm39)	L176P	probably damaging	Het
Caprin2	A	G	6: 148,744,569 (GRCm39)	I952T	probably damaging	Het
Cdkl4	A	T	17: 80,832,705 (GRCm39)		probably benign	Het
Cfap44	T	C	16: 44,227,767 (GRCm39)	L156P	probably damaging	Het
Dock9	A	G	14: 121,905,880 (GRCm39)	L90S	probably benign	Het
Efhb	T	C	17: 53,769,481 (GRCm39)	D276G	probably damaging	Het
Ep300	A	G	15: 81,525,619 (GRCm39)	D1481G	unknown	Het
Fam83b	T	C	9: 76,398,260 (GRCm39)	I948V	probably benign	Het
Fbxl5	G	T	5: 43,922,678 (GRCm39)	H247N	probably damaging	Het
Fn1	A	G	1: 71,692,032 (GRCm39)	I37T	probably benign	Het
Hfe	C	T	13: 23,889,835 (GRCm39)		probably benign	Het
Ighv1-36	A	T	12: 114,843,770 (GRCm39)	L29Q	possibly damaging	Het
Inpp5e	G	T	2: 26,298,533 (GRCm39)	Q23K	probably benign	Het
L3mbtl1	T	C	2: 162,808,983 (GRCm39)	S619P	probably damaging	Het
Myh8	T	C	11: 67,174,644 (GRCm39)	I253T	probably damaging	Het
Ntrk1	C	T	3: 87,698,745 (GRCm39)	V99M	possibly damaging	Het
Or51s1	T	C	7: 102,558,479 (GRCm39)	H189R	probably damaging	Het
Or5b124	A	T	19: 13,610,903 (GRCm39)	I143F	probably benign	Het
Pard6a	T	C	8: 106,429,446 (GRCm39)	S135P	probably damaging	Het
Prss43	G	T	9: 110,658,538 (GRCm39)	Q279H	probably benign	Het
Ptcd2	T	C	13: 99,466,573 (GRCm39)	N207D	probably benign	Het
Ros1	T	C	10: 52,070,986 (GRCm39)	I23V	probably benign	Het
Scg5	A	G	2: 113,657,915 (GRCm39)		probably benign	Het
Sh3bp5	T	A	14: 31,101,347 (GRCm39)	K212*	probably null	Het
Slc25a30	C	T	14: 76,004,365 (GRCm39)	G244D	possibly damaging	Het
Slc38a10	T	C	11: 119,997,428 (GRCm39)	R689G	probably damaging	Het
Spatc1	A	G	15: 76,168,994 (GRCm39)	D321G	probably damaging	Het
Stat4	A	T	1: 52,142,037 (GRCm39)	Y628F	probably damaging	Het

Other mutations in Wdr35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00962:Wdr35	APN	12	9,071,726 (GRCm39)	splice site	probably benign
IGL01094:Wdr35	APN	12	9,055,838 (GRCm39)	splice site	probably benign
IGL01312:Wdr35	APN	12	9,058,655 (GRCm39)	missense	probably damaging	1.00
IGL01397:Wdr35	APN	12	9,058,550 (GRCm39)	missense	probably benign	0.04
IGL01490:Wdr35	APN	12	9,027,381 (GRCm39)	missense	probably damaging	0.98
IGL02153:Wdr35	APN	12	9,058,535 (GRCm39)	missense	probably null	0.04
IGL02319:Wdr35	APN	12	9,077,480 (GRCm39)	unclassified	probably benign
IGL02548:Wdr35	APN	12	9,074,297 (GRCm39)	missense	probably benign	0.00
IGL02941:Wdr35	APN	12	9,077,507 (GRCm39)	missense	probably damaging	0.98
IGL03038:Wdr35	APN	12	9,024,185 (GRCm39)	splice site	probably benign
IGL03086:Wdr35	APN	12	9,058,692 (GRCm39)	splice site	probably null
IGL03207:Wdr35	APN	12	9,039,936 (GRCm39)	missense	probably damaging	0.98
IGL03327:Wdr35	APN	12	9,028,694 (GRCm39)	splice site	probably benign
R0362:Wdr35	UTSW	12	9,045,625 (GRCm39)	unclassified	probably benign
R0464:Wdr35	UTSW	12	9,077,472 (GRCm39)	unclassified	probably benign
R0487:Wdr35	UTSW	12	9,062,743 (GRCm39)	critical splice donor site	probably null
R0976:Wdr35	UTSW	12	9,036,104 (GRCm39)	missense	probably benign	0.03
R1349:Wdr35	UTSW	12	9,069,870 (GRCm39)	splice site	probably benign
R1663:Wdr35	UTSW	12	9,070,000 (GRCm39)	missense	probably benign	0.00
R1769:Wdr35	UTSW	12	9,062,728 (GRCm39)	missense	probably damaging	1.00
R1779:Wdr35	UTSW	12	9,035,772 (GRCm39)	missense	possibly damaging	0.62
R1789:Wdr35	UTSW	12	9,027,435 (GRCm39)	critical splice donor site	probably null
R1893:Wdr35	UTSW	12	9,035,994 (GRCm39)	missense	probably benign
R2076:Wdr35	UTSW	12	9,074,281 (GRCm39)	missense	possibly damaging	0.88
R2228:Wdr35	UTSW	12	9,024,955 (GRCm39)	missense	possibly damaging	0.65
R2280:Wdr35	UTSW	12	9,028,628 (GRCm39)	missense	probably benign	0.01
R2281:Wdr35	UTSW	12	9,028,628 (GRCm39)	missense	probably benign	0.01
R2863:Wdr35	UTSW	12	9,078,060 (GRCm39)	nonsense	probably null
R3713:Wdr35	UTSW	12	9,077,648 (GRCm39)	missense	possibly damaging	0.68
R3911:Wdr35	UTSW	12	9,036,077 (GRCm39)	missense	probably benign
R3934:Wdr35	UTSW	12	9,058,014 (GRCm39)	missense	probably damaging	1.00
R4360:Wdr35	UTSW	12	9,024,149 (GRCm39)	utr 5 prime	probably benign
R4402:Wdr35	UTSW	12	9,039,981 (GRCm39)	missense	probably damaging	0.98
R4473:Wdr35	UTSW	12	9,065,995 (GRCm39)	missense	probably benign	0.00
R4656:Wdr35	UTSW	12	9,066,619 (GRCm39)	missense	probably benign	0.00
R4780:Wdr35	UTSW	12	9,068,150 (GRCm39)	missense	probably benign
R5092:Wdr35	UTSW	12	9,037,327 (GRCm39)	missense	probably damaging	1.00
R5160:Wdr35	UTSW	12	9,058,487 (GRCm39)	missense	probably damaging	0.99
R5184:Wdr35	UTSW	12	9,068,142 (GRCm39)	missense	probably damaging	1.00
R5346:Wdr35	UTSW	12	9,028,684 (GRCm39)	missense	probably benign	0.00
R5435:Wdr35	UTSW	12	9,039,951 (GRCm39)	missense	probably benign	0.01
R5472:Wdr35	UTSW	12	9,066,619 (GRCm39)	missense	probably benign	0.00
R5682:Wdr35	UTSW	12	9,031,125 (GRCm39)	missense	probably damaging	1.00
R5801:Wdr35	UTSW	12	9,056,723 (GRCm39)	missense	possibly damaging	0.92
R5990:Wdr35	UTSW	12	9,066,511 (GRCm39)	missense	probably damaging	1.00
R6196:Wdr35	UTSW	12	9,077,632 (GRCm39)	missense	probably benign	0.05
R6531:Wdr35	UTSW	12	9,028,685 (GRCm39)	missense	probably benign	0.00
R6746:Wdr35	UTSW	12	9,053,982 (GRCm39)	splice site	probably null
R6816:Wdr35	UTSW	12	9,077,724 (GRCm39)	critical splice donor site	probably null
R6863:Wdr35	UTSW	12	9,040,047 (GRCm39)	missense	probably damaging	0.97
R7088:Wdr35	UTSW	12	9,028,659 (GRCm39)	missense	probably benign	0.11
R7140:Wdr35	UTSW	12	9,072,785 (GRCm39)	missense	probably damaging	0.98
R7327:Wdr35	UTSW	12	9,037,312 (GRCm39)	missense	probably benign	0.10
R7403:Wdr35	UTSW	12	9,062,685 (GRCm39)	missense	probably damaging	0.98
R7422:Wdr35	UTSW	12	9,054,105 (GRCm39)	missense	probably benign	0.00
R7438:Wdr35	UTSW	12	9,072,785 (GRCm39)	missense	probably damaging	0.98
R7466:Wdr35	UTSW	12	9,055,773 (GRCm39)	missense	probably benign
R7491:Wdr35	UTSW	12	9,036,000 (GRCm39)	missense	probably benign	0.00
R7599:Wdr35	UTSW	12	9,074,886 (GRCm39)	missense	probably benign	0.01
R7620:Wdr35	UTSW	12	9,066,042 (GRCm39)	missense	probably benign	0.04
R7857:Wdr35	UTSW	12	9,058,113 (GRCm39)	critical splice donor site	probably null
R8289:Wdr35	UTSW	12	9,058,020 (GRCm39)	missense	probably benign	0.00
R8302:Wdr35	UTSW	12	9,078,110 (GRCm39)	missense	probably benign	0.09
R8433:Wdr35	UTSW	12	9,058,495 (GRCm39)	missense	probably damaging	1.00
R8479:Wdr35	UTSW	12	9,035,985 (GRCm39)	missense	probably benign	0.04
R8498:Wdr35	UTSW	12	9,058,626 (GRCm39)	missense	probably damaging	0.97
R8721:Wdr35	UTSW	12	9,075,044 (GRCm39)	critical splice donor site	probably null
R9220:Wdr35	UTSW	12	9,036,000 (GRCm39)	missense	possibly damaging	0.49
R9368:Wdr35	UTSW	12	9,071,826 (GRCm39)	missense	probably benign	0.00
R9573:Wdr35	UTSW	12	9,078,014 (GRCm39)	missense	probably benign	0.00
R9596:Wdr35	UTSW	12	9,036,092 (GRCm39)	missense	probably benign	0.08
R9773:Wdr35	UTSW	12	9,039,990 (GRCm39)	missense	probably benign	0.03
X0066:Wdr35	UTSW	12	9,040,029 (GRCm39)	missense	probably benign	0.04

Posted On

2011-12-09