Mutagenetix > Incidental Mutation

Incidental Mutation 'R8479:Wdr35'

657438

Institutional Source

Beutler Lab

Gene Symbol

Wdr35

Ensembl Gene

ENSMUSG00000066643

Gene Name

WD repeat domain 35

Synonyms

4930459M12Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8479 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8973892-9028847 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 8985985 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 252 (T252K)

Ref Sequence

ENSEMBL: ENSMUSP00000082895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085745] [ENSMUST00000111113] [ENSMUST00000160329]

AlphaFold

Q8BND3

Predicted Effect

probably benign
Transcript: ENSMUST00000085745
AA Change: T252K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000082895
Gene: ENSMUSG00000066643
AA Change: T252K

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: T252K

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000106742
Gene: ENSMUSG00000066643
AA Change: T252K

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

probably benign
Transcript: ENSMUST00000160329

SMART Domains

Protein: ENSMUSP00000124285
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
low complexity region	172	186	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (52/52)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	G	A	15: 83,227,860	H241Y	probably benign	Het
Afg3l2	C	T	18: 67,448,916	G29D	probably benign	Het
Ano2	T	C	6: 125,712,160	S52P	possibly damaging	Het
Atp11a	A	T	8: 12,842,932	E641V	possibly damaging	Het
Atp6v1d	T	C	12: 78,849,746	T116A	probably benign	Het
BC025446	A	G	15: 75,217,777	T45A	probably damaging	Het
Cacna2d2	T	C	9: 107,526,397		probably null	Het
Cd109	T	A	9: 78,667,346	Y537*	probably null	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Celsr2	T	A	3: 108,398,902	T2029S	probably benign	Het
Cntnap2	C	T	6: 46,759,773	A711V	probably benign	Het
Col18a1	T	C	10: 77,081,154	I114V	unknown	Het
Crhbp	A	G	13: 95,442,124	V163A	possibly damaging	Het
Crmp1	C	A	5: 37,284,158	P414Q	possibly damaging	Het
Cse1l	G	A	2: 166,921,973	E78K	possibly damaging	Het
Ctnna2	A	G	6: 77,758,590	V35A	probably damaging	Het
Ddx1	T	A	12: 13,220,748	N654I	probably damaging	Het
Dgcr14	T	C	16: 17,910,941		probably null	Het
Dido1	A	T	2: 180,673,229		probably null	Het
Dmtf1	C	T	5: 9,120,428	V630I	probably damaging	Het
Ercc6	T	C	14: 32,526,406	S305P	probably benign	Het
Ercc6l2	T	A	13: 63,824,815	S37T	possibly damaging	Het
Fnip2	A	G	3: 79,512,555	M138T	probably damaging	Het
Galnt9	T	C	5: 110,544,751	V17A	probably benign	Het
Gm7324	T	C	14: 43,714,763	S288P	probably benign	Het
Gucy2e	G	A	11: 69,232,963	A370V	probably benign	Het
H2-Bl	G	A	17: 36,084,219	A2V	probably damaging	Het
Ift57	T	C	16: 49,701,900	F2L	probably damaging	Het
Ipo7	G	A	7: 110,039,245	V240I	probably benign	Het
Lrrc4c	A	G	2: 97,629,632	Y201C	probably damaging	Het
Mapkap1	A	T	2: 34,581,290	S389C	probably damaging	Het
Met	G	T	6: 17,491,747		probably null	Het
Misp	T	C	10: 79,827,916	F575L	possibly damaging	Het
Mtmr11	T	C	3: 96,163,734	L136P	probably damaging	Het
Muc4	C	T	16: 32,753,508	T1128M	possibly damaging	Het
Nfyc	A	T	4: 120,768,892	V70E	probably damaging	Het
Nphp4	T	C	4: 152,524,290	S452P	probably benign	Het
Oasl2	T	A	5: 114,897,791	F43I	probably damaging	Het
Olfr1002	A	G	2: 85,648,103	S73P	probably damaging	Het
Olfr1333	A	G	4: 118,830,015	C141R	probably damaging	Het
Pros1	G	T	16: 62,907,739	G269W	probably damaging	Het
Rif1	A	C	2: 52,112,551	S2006R	possibly damaging	Het
Ror2	G	T	13: 53,117,364	N306K	probably damaging	Het
Rragd	C	T	4: 33,018,734	A379V	probably benign	Het
Slc10a2	C	T	8: 5,098,443		probably null	Het
Susd3	C	T	13: 49,237,476	G113S	probably benign	Het
Tbc1d19	T	A	5: 53,883,689	M371K	possibly damaging	Het
Tnn	C	A	1: 160,122,827	R736S	probably benign	Het
Trio	T	C	15: 27,901,200	T323A	probably benign	Het
Ubqln1	G	A	13: 58,191,839	P324S	probably benign	Het
Uspl1	T	C	5: 149,215,194	L1068P	probably damaging	Het
Vmn2r86	A	T	10: 130,446,866	I627N	probably damaging	Het
Zfp62	T	C	11: 49,216,492	I470T	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
R1349:Wdr35	UTSW	12	9019870	splice site	probably benign
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
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

PCR Primer
(F):5'- TAATGCGGCATGAGAATGACC -3'
(R):5'- TTTCCCTGATTACGGCTGTG -3'

Sequencing Primer
(F):5'- GAATGACCAAAGTAAGCAATCTTTG -3'
(R):5'- GGCTGTGCCTGATGGAAATG -3'

Posted On

2021-01-18