Mutagenetix > Incidental Mutation

Incidental Mutation 'R7422:Wdr35'

575762

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 #

R7422 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8973892-9028847 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9004105 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 466 (N466S)

Ref Sequence

ENSEMBL: ENSMUSP00000082895 (fasta)

Gene Model

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

AlphaFold

Q8BND3

Predicted Effect

probably benign
Transcript: ENSMUST00000085745
AA Change: N466S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000082895
Gene: ENSMUSG00000066643
AA Change: N466S

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: N455S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000106742
Gene: ENSMUSG00000066643
AA Change: N455S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.9%

Validation Efficiency

97% (98/101)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,881,059	C456S	probably damaging	Het
4930524J08Rik	T	C	5: 99,979,209		probably benign	Het
Adam28	T	G	14: 68,626,877	R492S	probably damaging	Het
Adarb2	G	A	13: 8,757,277	A705T	possibly damaging	Het
Adprhl1	T	C	8: 13,222,873	D1295G	probably benign	Het
Aldh3b3	A	G	19: 3,966,476	I365V	probably benign	Het
Aldh8a1	T	C	10: 21,389,097	F208L	possibly damaging	Het
Ap3b1	G	A	13: 94,528,165	V871I	unknown	Het
Apol7e	A	T	15: 77,714,352	R6*	probably null	Het
Arfgap3	T	C	15: 83,306,949	E456G	probably damaging	Het
Arhgef1	T	C	7: 24,916,036	L285P	probably benign	Het
Arhgef7	T	A	8: 11,800,861	C315S	probably benign	Het
Atp9a	A	T	2: 168,648,593	L829Q	probably damaging	Het
Babam2	T	A	5: 31,731,049		probably null	Het
Bptf	C	T	11: 107,060,558	R2185H	probably damaging	Het
Brd9	A	C	13: 73,954,578	M473L	probably benign	Het
C7	T	C	15: 5,012,056	H456R	probably benign	Het
Cabp7	C	A	11: 4,738,856	A205S	probably damaging	Het
Catsperb	A	G	12: 101,588,034	I662M	probably damaging	Het
Ccl21a	T	C	4: 42,773,906	M5V	probably benign	Het
Cdyl	G	T	13: 35,858,194	R405L	possibly damaging	Het
Cep89	T	C	7: 35,428,247	L538P	probably damaging	Het
Cercam	A	G	2: 29,872,880	M209V	possibly damaging	Het
Chfr	T	A	5: 110,162,705		probably null	Het
Cntnap5c	T	A	17: 58,410,231	Y1269*	probably null	Het
Col6a2	G	T	10: 76,603,336	C833*	probably null	Het
Cpeb3	T	A	19: 37,174,500	I159F	probably benign	Het
Cplx2	G	A	13: 54,378,850	E24K	possibly damaging	Het
Ctsb	A	G	14: 63,142,303	T332A	probably benign	Het
Cyp2j12	T	A	4: 96,140,985	T20S	probably benign	Het
Dcst2	T	A	3: 89,366,686	H181Q	probably damaging	Het
Dnm1l	T	C	16: 16,318,474	I411V	probably benign	Het
Dock5	T	A	14: 67,809,030	I768F	probably benign	Het
Dpcr1	T	A	17: 35,638,420	T96S	probably benign	Het
Ecel1	A	G	1: 87,149,612	Y625H	probably damaging	Het
Efl1	T	G	7: 82,681,379	S253R	probably damaging	Het
Elmod1	T	A	9: 53,912,843	D287V	probably damaging	Het
Fam171a2	T	C	11: 102,438,665	S423G	probably benign	Het
Fbxo8	A	T	8: 56,569,282		probably null	Het
Flnc	G	T	6: 29,455,471	G2040W	probably damaging	Het
Fras1	C	T	5: 96,673,599	A1405V	probably benign	Het
Frem3	A	C	8: 80,615,763	I1562L	probably benign	Het
Fxr1	C	T	3: 34,049,220	A233V	probably damaging	Het
Helb	A	G	10: 120,108,894	F246L	probably damaging	Het
Hils1	A	G	11: 94,968,358	R160G	possibly damaging	Het
Hoxb6	G	T	11: 96,292,684		probably benign	Het
Hspa2	A	G	12: 76,406,110	E526G	probably damaging	Het
Hyal5	A	T	6: 24,875,984		probably benign	Het
Ints6	A	T	14: 62,704,775	V503E	probably benign	Het
Ints9	C	T	14: 65,032,298	T479I	possibly damaging	Het
Jag1	C	T	2: 137,085,055	R928H	probably benign	Het
Lman2	A	T	13: 55,351,525	I179N	probably damaging	Het
Lta	T	C	17: 35,203,829	S173G	probably benign	Het
Mki67	G	A	7: 135,698,370	P1645L	probably damaging	Het
Mrc2	A	T	11: 105,292,783		probably benign	Het
Muc4	T	A	16: 32,754,689	M1521K	probably benign	Het
Mylk3	T	G	8: 85,355,244	D438A	probably benign	Het
Myo7a	T	A	7: 98,051,626		probably null	Het
Nsmce4a	G	T	7: 130,533,817	Q342K	probably benign	Het
Olfr1232	T	A	2: 89,326,079	I34F	probably benign	Het
Olfr455	A	G	6: 42,538,119	I301T	possibly damaging	Het
Olfr484	A	G	7: 108,124,861	L134P	probably damaging	Het
Olfr808	A	T	10: 129,768,267	Y257F	possibly damaging	Het
Osbpl6	T	A	2: 76,593,386	F864L	probably damaging	Het
Pla2g4a	A	G	1: 149,932,687	S2P	probably benign	Het
Plce1	T	C	19: 38,651,885	L525P	probably damaging	Het
Por	A	T	5: 135,734,919	M667L	probably benign	Het
Psma4	T	C	9: 54,954,882	Y97H	probably benign	Het
Qtrt1	A	T	9: 21,412,457	H126L	probably benign	Het
Rab3a	A	T	8: 70,756,523	Y102F	possibly damaging	Het
Rnf212	T	A	5: 108,731,689	H87L	probably benign	Het
Rnf216	A	G	5: 143,090,836	S98P	probably benign	Het
Ryr1	G	T	7: 29,085,870	R1806S	probably benign	Het
Scgb1b3	A	T	7: 31,375,837	L37F	probably benign	Het
Sds	T	C	5: 120,479,189	S37P	probably damaging	Het
Senp6	A	G	9: 80,113,877	R280G	probably damaging	Het
She	T	A	3: 89,854,557	I441K	possibly damaging	Het
Slc6a20b	A	G	9: 123,607,617	S244P	possibly damaging	Het
Slc9a3	A	T	13: 74,150,885	Y141F	probably damaging	Het
Slco6c1	A	T	1: 97,081,482	H426Q	probably benign	Het
Smc2	C	A	4: 52,440,301	Q16K	probably benign	Het
Sphkap	A	C	1: 83,263,826	V1535G	probably benign	Het
Stard9	C	A	2: 120,702,152	N2963K	probably benign	Het
Sycp2	C	T	2: 178,394,151	A248T	probably damaging	Het
Taar8a	T	C	10: 24,076,864	L122P	probably damaging	Het
Tab1	T	A	15: 80,160,244	V491E	probably benign	Het
Tanc1	T	C	2: 59,806,344	M857T	probably benign	Het
Tcirg1	C	A	19: 3,899,008	R427L	possibly damaging	Het
Tmem109	A	C	19: 10,871,760	*244G	probably null	Het
Tox2	A	G	2: 163,321,515	Y136C		Het
Tubb1	T	C	2: 174,457,032	V169A	possibly damaging	Het
Ubr3	T	C	2: 69,953,542		probably null	Het
Vmn1r225	T	A	17: 20,502,797	F167I	probably benign	Het
Vmn2r65	A	C	7: 84,946,361	W372G	probably damaging	Het
Vps13a	A	T	19: 16,750,173	D188E	probably damaging	Het
Vsnl1	G	T	12: 11,326,438	Q149K	probably benign	Het
Ywhae	T	A	11: 75,759,343	S210R	probably damaging	Het
Zfp28	T	A	7: 6,394,749	S728T	probably damaging	Het
Zfpm1	A	G	8: 122,336,959	D919G	unknown	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
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

PCR Primer
(F):5'- CTAAAATGAGGAGTTGGGCTCAGTG -3'
(R):5'- GTTTTGTTTACACCATGCCAAC -3'

Sequencing Primer
(F):5'- GGGCTCAGTGGTGTGAAG -3'
(R):5'- TTTAATCCCAGCACTCAGGAGG -3'

Posted On

2019-10-07