Mutagenetix > Incidental Mutation

Incidental Mutation 'R5990:Wdr35'

481965

Institutional Source

Beutler Lab

Gene Symbol

Wdr35

Ensembl Gene

ENSMUSG00000066643

Gene Name

WD repeat domain 35

Synonyms

4930459M12Rik

MMRRC Submission

044170-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5990 (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 9016511 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 724 (D724G)

Ref Sequence

ENSEMBL: ENSMUSP00000082895 (fasta)

Gene Model

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

AlphaFold

Q8BND3

Predicted Effect

probably damaging
Transcript: ENSMUST00000085745
AA Change: D724G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000082895
Gene: ENSMUSG00000066643
AA Change: D724G

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: D713G

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

SMART Domains

Protein: ENSMUSP00000106742
Gene: ENSMUSG00000066643
AA Change: D713G

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

0.4138

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

99% (77/78)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	T	10: 76,449,289	M11L	probably benign	Het
Acad10	A	G	5: 121,645,405	L319P	probably damaging	Het
Adam12	C	A	7: 133,931,736	C471F	probably damaging	Het
Arfgef1	A	G	1: 10,172,921	Y1065H	probably damaging	Het
Atp8b3	G	A	10: 80,525,697	T797M	possibly damaging	Het
Auts2	G	A	5: 131,476,895		probably benign	Het
AW209491	C	T	13: 14,637,780	A406V	probably benign	Het
Ccdc146	A	G	5: 21,318,182	S286P	probably benign	Het
Chsy3	GT	G	18: 59,176,166	163	probably null	Het
Cmtr1	T	C	17: 29,702,161	Y794H	probably benign	Het
Copb2	A	G	9: 98,570,325	E54G	probably damaging	Het
Ctsk	A	T	3: 95,501,456	H77L	probably damaging	Het
Dnah3	T	C	7: 120,073,541	Y546C	probably benign	Het
Ephb2	A	T	4: 136,696,055	V304E	probably benign	Het
Ern1	C	T	11: 106,411,769	V420I	probably benign	Het
Esrrg	A	T	1: 188,198,798	E339V	probably damaging	Het
Fbxo10	A	C	4: 45,061,960	F189V	probably damaging	Het
Foxl1	G	T	8: 121,128,421	A154S	probably damaging	Het
Frs3	A	G	17: 47,701,677	D103G	possibly damaging	Het
Gdpd4	A	G	7: 98,040,930	T610A	probably benign	Het
Gm10271	A	T	10: 116,972,592	F6L	probably damaging	Het
Gm4847	C	T	1: 166,643,373	S36N	probably benign	Het
Grm8	G	T	6: 27,363,624	L631I	probably damaging	Het
Ints9	T	A	14: 65,039,328	L648Q	probably damaging	Het
Kansl1l	T	C	1: 66,735,726	H647R	probably damaging	Het
Kcnq1	T	A	7: 143,261,368	H501Q	probably damaging	Het
Kctd20	T	C	17: 28,966,910	L409P	probably benign	Het
Kiss1r	A	G	10: 79,918,707	T12A	probably benign	Het
Kndc1	T	A	7: 139,927,420	V1173E	probably damaging	Het
Kprp	T	C	3: 92,824,774	E323G	probably damaging	Het
Krtap10-4	A	T	10: 77,826,607		probably benign	Het
Lrrc37a	A	G	11: 103,500,958	Y1214H	probably benign	Het
Lysmd3	G	A	13: 81,669,588	G228D	probably damaging	Het
Muc16	G	A	9: 18,659,243	A660V	unknown	Het
Muc5b	T	C	7: 141,858,161	C1615R	unknown	Het
Nans	A	T	4: 46,489,441	N28I	probably damaging	Het
Nlrp4b	C	T	7: 10,714,491	S207L	possibly damaging	Het
Nrd1	T	G	4: 109,019,071	F355V	probably damaging	Het
Nrip2	C	T	6: 128,400,016		probably benign	Het
Nufip1	C	T	14: 76,114,188	P161L	probably damaging	Het
Ogdhl	C	T	14: 32,327,114	H114Y	possibly damaging	Het
Olfr1295	T	A	2: 111,564,674	I257F	probably damaging	Het
Olfr160	G	T	9: 37,712,110	H56Q	probably damaging	Het
Opa1	T	A	16: 29,587,018	W134R	probably damaging	Het
Parp14	G	A	16: 35,841,457	P1403S	probably benign	Het
Patl2	T	C	2: 122,124,484	D361G	probably damaging	Het
Pcx	A	G	19: 4,621,266	D1172G	probably damaging	Het
Phax	A	G	18: 56,575,603	T58A	probably benign	Het
Phf11b	T	A	14: 59,324,926	I177L	possibly damaging	Het
Pole	T	A	5: 110,302,144	V819D	probably damaging	Het
Poll	T	C	19: 45,553,155	D458G	possibly damaging	Het
Polr2m	G	A	9: 71,479,320		probably null	Het
Ppp1r9a	C	A	6: 5,134,660	H928N	probably benign	Het
Prdm2	T	C	4: 143,170,113	N102D	probably damaging	Het
Rbm45	A	T	2: 76,370,412	D95V	probably benign	Het
Rdh19	A	G	10: 127,859,594	M226V	probably benign	Het
Rev3l	T	G	10: 39,823,811	S1435A	probably benign	Het
Rgs20	A	G	1: 4,912,330	I305T	probably benign	Het
Rhobtb2	T	C	14: 69,796,369	N469S	probably damaging	Het
Rif1	C	G	2: 52,095,844	L614V	probably damaging	Het
Rps6ka1	A	G	4: 133,866,397	I177T	probably damaging	Het
Samd12	T	A	15: 53,719,623	D105V	probably damaging	Het
Setd3	A	T	12: 108,160,335	D88E	probably benign	Het
Sfmbt2	G	T	2: 10,579,381	V850L	possibly damaging	Het
Slc26a10	C	A	10: 127,178,758	A195S	possibly damaging	Het
Smcp	C	A	3: 92,584,250	A97S	unknown	Het
Stxbp5	G	A	10: 9,835,933	H248Y	probably damaging	Het
Syne2	T	C	12: 76,024,144	L4457P	probably benign	Het
Tbx3	A	G	5: 119,680,529	T390A	probably benign	Het
Tmeff2	G	A	1: 50,979,442	W194*	probably null	Het
Tmem120b	G	A	5: 123,104,481	R174Q	probably damaging	Het
Trio	A	G	15: 27,891,459	V402A	probably benign	Het
Ttll2	C	A	17: 7,352,367	G54W	possibly damaging	Het
Uba7	G	A	9: 107,981,234	V786M	probably damaging	Het
Vmn2r32	T	C	7: 7,479,810	E55G	probably damaging	Het
Xrcc1	G	A	7: 24,567,868	V381M	probably damaging	Het
Zdhhc11	T	A	13: 73,979,184	W227R	probably benign	Het
Zfp341	T	C	2: 154,645,659	S681P	probably damaging	Het
Zfp735	T	A	11: 73,690,348	D70E	possibly damaging	Het
Zmat4	G	A	8: 23,929,263	A104T	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
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
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'- TGCCAGTCCTCAGTATAAGCATG -3'
(R):5'- TATGAACTGACATCACTTGGGG -3'

Sequencing Primer
(F):5'- GTCCTCAGTATAAGCATGTTACATG -3'
(R):5'- CCTGCCAAAGTAGGCAATA -3'

Posted On

2017-06-26