Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00962:Wdr35'

28772

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 #

IGL00962

Quality Score

Status

Chromosome

Chromosomal Location

8973892-9028847 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 9021726 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

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	C	T	18: 67,431,653 (GRCm38)		probably null	Het
Atp8b1	C	T	18: 64,531,444 (GRCm38)	A1218T	probably damaging	Het
AY761185	T	C	8: 20,944,595 (GRCm38)	D39G	possibly damaging	Het
Fam167a	G	A	14: 63,462,455 (GRCm38)	E155K	probably damaging	Het
Fam35a	A	T	14: 34,249,251 (GRCm38)	V559E	probably damaging	Het
Fat3	C	T	9: 15,915,519 (GRCm38)	G4379D	probably benign	Het
Fkbp10	A	G	11: 100,421,817 (GRCm38)	T300A	probably benign	Het
Gm6665	T	C	18: 31,820,151 (GRCm38)	K57R	probably benign	Het
Gnb4	T	C	3: 32,593,169 (GRCm38)	T86A	probably benign	Het
H2-Q2	A	G	17: 35,342,849 (GRCm38)	Y105C	probably damaging	Het
Ighv1-75	A	G	12: 115,834,263 (GRCm38)		probably benign	Het
Ilvbl	A	G	10: 78,583,338 (GRCm38)	T474A	possibly damaging	Het
Slc45a3	T	A	1: 131,977,527 (GRCm38)	V96D	probably damaging	Het
Tmtc3	C	T	10: 100,471,953 (GRCm38)	G201R	probably damaging	Het
Tnfsf14	G	A	17: 57,192,906 (GRCm38)	Q83*	probably null	Het
Trpm2	A	G	10: 77,943,916 (GRCm38)		probably benign	Het
Ubr5	A	T	15: 37,985,934 (GRCm38)	F2219I	probably damaging	Het
Utrn	C	T	10: 12,481,334 (GRCm38)	V2747I	possibly damaging	Het
Vcan	T	C	13: 89,662,052 (GRCm38)	N3207D	probably damaging	Het
Vmn1r35	A	G	6: 66,679,377 (GRCm38)	V103A	possibly damaging	Het
Vmn2r97	A	G	17: 18,929,228 (GRCm38)	T293A	probably damaging	Het

Other mutations in Wdr35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Wdr35	APN	12	9,019,900 (GRCm38)	missense	probably benign
IGL01094:Wdr35	APN	12	9,005,838 (GRCm38)	splice site	probably benign
IGL01312:Wdr35	APN	12	9,008,655 (GRCm38)	missense	probably damaging	1.00
IGL01397:Wdr35	APN	12	9,008,550 (GRCm38)	missense	probably benign	0.04
IGL01490:Wdr35	APN	12	8,977,381 (GRCm38)	missense	probably damaging	0.98
IGL02153:Wdr35	APN	12	9,008,535 (GRCm38)	missense	probably null	0.04
IGL02319:Wdr35	APN	12	9,027,480 (GRCm38)	unclassified	probably benign
IGL02548:Wdr35	APN	12	9,024,297 (GRCm38)	missense	probably benign	0.00
IGL02941:Wdr35	APN	12	9,027,507 (GRCm38)	missense	probably damaging	0.98
IGL03038:Wdr35	APN	12	8,974,185 (GRCm38)	splice site	probably benign
IGL03086:Wdr35	APN	12	9,008,692 (GRCm38)	splice site	probably null
IGL03207:Wdr35	APN	12	8,989,936 (GRCm38)	missense	probably damaging	0.98
IGL03327:Wdr35	APN	12	8,978,694 (GRCm38)	splice site	probably benign
R0362:Wdr35	UTSW	12	8,995,625 (GRCm38)	unclassified	probably benign
R0464:Wdr35	UTSW	12	9,027,472 (GRCm38)	unclassified	probably benign
R0487:Wdr35	UTSW	12	9,012,743 (GRCm38)	critical splice donor site	probably null
R0976:Wdr35	UTSW	12	8,986,104 (GRCm38)	missense	probably benign	0.03
R1349:Wdr35	UTSW	12	9,019,870 (GRCm38)	splice site	probably benign
R1663:Wdr35	UTSW	12	9,020,000 (GRCm38)	missense	probably benign	0.00
R1769:Wdr35	UTSW	12	9,012,728 (GRCm38)	missense	probably damaging	1.00
R1779:Wdr35	UTSW	12	8,985,772 (GRCm38)	missense	possibly damaging	0.62
R1789:Wdr35	UTSW	12	8,977,435 (GRCm38)	critical splice donor site	probably null
R1893:Wdr35	UTSW	12	8,985,994 (GRCm38)	missense	probably benign
R2076:Wdr35	UTSW	12	9,024,281 (GRCm38)	missense	possibly damaging	0.88
R2228:Wdr35	UTSW	12	8,974,955 (GRCm38)	missense	possibly damaging	0.65
R2280:Wdr35	UTSW	12	8,978,628 (GRCm38)	missense	probably benign	0.01
R2281:Wdr35	UTSW	12	8,978,628 (GRCm38)	missense	probably benign	0.01
R2863:Wdr35	UTSW	12	9,028,060 (GRCm38)	nonsense	probably null
R3713:Wdr35	UTSW	12	9,027,648 (GRCm38)	missense	possibly damaging	0.68
R3911:Wdr35	UTSW	12	8,986,077 (GRCm38)	missense	probably benign
R3934:Wdr35	UTSW	12	9,008,014 (GRCm38)	missense	probably damaging	1.00
R4360:Wdr35	UTSW	12	8,974,149 (GRCm38)	utr 5 prime	probably benign
R4402:Wdr35	UTSW	12	8,989,981 (GRCm38)	missense	probably damaging	0.98
R4473:Wdr35	UTSW	12	9,015,995 (GRCm38)	missense	probably benign	0.00
R4656:Wdr35	UTSW	12	9,016,619 (GRCm38)	missense	probably benign	0.00
R4780:Wdr35	UTSW	12	9,018,150 (GRCm38)	missense	probably benign
R5092:Wdr35	UTSW	12	8,987,327 (GRCm38)	missense	probably damaging	1.00
R5160:Wdr35	UTSW	12	9,008,487 (GRCm38)	missense	probably damaging	0.99
R5184:Wdr35	UTSW	12	9,018,142 (GRCm38)	missense	probably damaging	1.00
R5346:Wdr35	UTSW	12	8,978,684 (GRCm38)	missense	probably benign	0.00
R5435:Wdr35	UTSW	12	8,989,951 (GRCm38)	missense	probably benign	0.01
R5472:Wdr35	UTSW	12	9,016,619 (GRCm38)	missense	probably benign	0.00
R5682:Wdr35	UTSW	12	8,981,125 (GRCm38)	missense	probably damaging	1.00
R5801:Wdr35	UTSW	12	9,006,723 (GRCm38)	missense	possibly damaging	0.92
R5990:Wdr35	UTSW	12	9,016,511 (GRCm38)	missense	probably damaging	1.00
R6196:Wdr35	UTSW	12	9,027,632 (GRCm38)	missense	probably benign	0.05
R6531:Wdr35	UTSW	12	8,978,685 (GRCm38)	missense	probably benign	0.00
R6746:Wdr35	UTSW	12	9,003,982 (GRCm38)	splice site	probably null
R6816:Wdr35	UTSW	12	9,027,724 (GRCm38)	critical splice donor site	probably null
R6863:Wdr35	UTSW	12	8,990,047 (GRCm38)	missense	probably damaging	0.97
R7088:Wdr35	UTSW	12	8,978,659 (GRCm38)	missense	probably benign	0.11
R7140:Wdr35	UTSW	12	9,022,785 (GRCm38)	missense	probably damaging	0.98
R7327:Wdr35	UTSW	12	8,987,312 (GRCm38)	missense	probably benign	0.10
R7403:Wdr35	UTSW	12	9,012,685 (GRCm38)	missense	probably damaging	0.98
R7422:Wdr35	UTSW	12	9,004,105 (GRCm38)	missense	probably benign	0.00
R7438:Wdr35	UTSW	12	9,022,785 (GRCm38)	missense	probably damaging	0.98
R7466:Wdr35	UTSW	12	9,005,773 (GRCm38)	missense	probably benign
R7491:Wdr35	UTSW	12	8,986,000 (GRCm38)	missense	probably benign	0.00
R7599:Wdr35	UTSW	12	9,024,886 (GRCm38)	missense	probably benign	0.01
R7620:Wdr35	UTSW	12	9,016,042 (GRCm38)	missense	probably benign	0.04
R7857:Wdr35	UTSW	12	9,008,113 (GRCm38)	critical splice donor site	probably null
R8289:Wdr35	UTSW	12	9,008,020 (GRCm38)	missense	probably benign	0.00
R8302:Wdr35	UTSW	12	9,028,110 (GRCm38)	missense	probably benign	0.09
R8433:Wdr35	UTSW	12	9,008,495 (GRCm38)	missense	probably damaging	1.00
R8479:Wdr35	UTSW	12	8,985,985 (GRCm38)	missense	probably benign	0.04
R8498:Wdr35	UTSW	12	9,008,626 (GRCm38)	missense	probably damaging	0.97
R8721:Wdr35	UTSW	12	9,025,044 (GRCm38)	critical splice donor site	probably null
R9220:Wdr35	UTSW	12	8,986,000 (GRCm38)	missense	possibly damaging	0.49
R9368:Wdr35	UTSW	12	9,021,826 (GRCm38)	missense	probably benign	0.00
R9573:Wdr35	UTSW	12	9,028,014 (GRCm38)	missense	probably benign	0.00
R9596:Wdr35	UTSW	12	8,986,092 (GRCm38)	missense	probably benign	0.08
R9773:Wdr35	UTSW	12	8,989,990 (GRCm38)	missense	probably benign	0.03
X0066:Wdr35	UTSW	12	8,990,029 (GRCm38)	missense	probably benign	0.04

Posted On

2013-04-17