Mutagenetix > Incidental Mutation

Incidental Mutation 'R3934:Wdr35'

306948

Institutional Source

Beutler Lab

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 #

R3934 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8973892-9028847 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 9008014 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 513 (G513C)

Ref Sequence

ENSEMBL: ENSMUSP00000106742 (fasta)

Gene Model

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

AlphaFold

Q8BND3

Predicted Effect

probably damaging
Transcript: ENSMUST00000085745
AA Change: G524C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000082895
Gene: ENSMUSG00000066643
AA Change: G524C

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 damaging
Transcript: ENSMUST00000111113
AA Change: G513C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106742
Gene: ENSMUSG00000066643
AA Change: G513C

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: ENSMUST00000161019

Meta Mutation Damage Score

0.9076

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

100% (40/40)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	T	A	12: 18,534,081 (GRCm38)	Y381N	possibly damaging	Het
Adgrf3	T	C	5: 30,200,434 (GRCm38)		probably benign	Het
Adgrv1	A	G	13: 81,475,047 (GRCm38)	F3819S	probably benign	Het
Aig1	T	C	10: 13,801,912 (GRCm38)	D112G	probably damaging	Het
Akap6	C	T	12: 53,140,444 (GRCm38)	T1547M	possibly damaging	Het
Alk	T	A	17: 72,205,954 (GRCm38)	I337F	probably damaging	Het
C2cd5	C	T	6: 143,041,380 (GRCm38)	V499I	possibly damaging	Het
Capn11	A	T	17: 45,634,287 (GRCm38)		probably benign	Het
Clstn3	G	A	6: 124,457,942 (GRCm38)	T338I	probably damaging	Het
Cmbl	A	G	15: 31,589,787 (GRCm38)	D221G	possibly damaging	Het
Enpp2	A	G	15: 54,845,921 (GRCm38)	V766A	probably benign	Het
Fastk	G	T	5: 24,442,259 (GRCm38)	S317*	probably null	Het
Fgfr1op2	T	A	6: 146,595,171 (GRCm38)		probably benign	Het
Gpr85	A	G	6: 13,836,045 (GRCm38)	F287L	probably benign	Het
Hectd4	G	A	5: 121,320,101 (GRCm38)		probably null	Het
Hmcn2	T	A	2: 31,380,484 (GRCm38)		probably null	Het
Hspbp1	A	T	7: 4,664,595 (GRCm38)	M271K	probably benign	Het
Itgb6	G	A	2: 60,611,411 (GRCm38)	T685M	possibly damaging	Het
Itih5	G	A	2: 10,245,544 (GRCm38)	V685I	probably damaging	Het
Kalrn	T	C	16: 34,310,531 (GRCm38)	S421G	probably benign	Het
Mcm2	G	A	6: 88,893,008 (GRCm38)	R60C	probably damaging	Het
Mitf	C	T	6: 97,993,253 (GRCm38)	P54S	probably damaging	Het
Perm1	A	G	4: 156,219,170 (GRCm38)	T724A	probably benign	Het
Pex5l	T	C	3: 33,007,172 (GRCm38)	E176G	probably damaging	Het
Polk	A	T	13: 96,501,635 (GRCm38)	M192K	possibly damaging	Het
Polr3a	T	C	14: 24,476,101 (GRCm38)	I401V	probably benign	Het
Prpf38b	T	C	3: 108,904,425 (GRCm38)		probably benign	Het
Sema3c	T	C	5: 17,681,940 (GRCm38)	S330P	probably damaging	Het
Slc16a7	C	A	10: 125,230,843 (GRCm38)	R309L	probably damaging	Het
Slc35f1	C	T	10: 53,108,218 (GRCm38)	T358I	probably damaging	Het
Slc39a12	T	A	2: 14,434,363 (GRCm38)		probably benign	Het
Sod3	T	C	5: 52,368,645 (GRCm38)	S229P	probably benign	Het
Sorcs3	T	A	19: 48,713,504 (GRCm38)	V608D	probably damaging	Het
Spink5	G	T	18: 44,016,427 (GRCm38)	K958N	probably damaging	Het
Ttc7	A	C	17: 87,370,738 (GRCm38)		probably benign	Het
Ush2a	T	A	1: 188,263,511 (GRCm38)		probably null	Het
Vmn2r19	T	A	6: 123,315,669 (GRCm38)	D223E	probably damaging	Het
Vwf	T	A	6: 125,555,499 (GRCm38)	S87T	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
IGL00962:Wdr35	APN	12	9,021,726 (GRCm38)	splice site	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
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

Predicted Primers

PCR Primer
(F):5'- GACCTAGATCTTCGTCCTGAC -3'
(R):5'- TGCCAGGGTTTCCATTTCAAC -3'

Sequencing Primer
(F):5'- CTGCTGTTAAAAGACTCAAGTTGGG -3'
(R):5'- CAGGGTTTCCATTTCAACAAGTTCAC -3'

Posted On

2015-04-17