Mutagenetix > Incidental Mutation

Incidental Mutation 'R7438:Wdr35'

576763

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 #

R7438 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8973892-9028847 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9022785 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 920 (Y920N)

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: Y920N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000082895
Gene: ENSMUSG00000066643
AA Change: Y920N

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: Y909N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106742
Gene: ENSMUSG00000066643
AA Change: Y909N

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (88/88)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,616,446	S425G	probably benign	Het
Adam29	A	G	8: 55,871,574	I615T	probably damaging	Het
Arap2	A	T	5: 62,749,475	I67N	probably damaging	Het
Asxl2	C	T	12: 3,427,108		probably benign	Het
Atp13a4	C	T	16: 29,441,196	G607D		Het
Atp2c2	G	A	8: 119,748,197	V514M	probably damaging	Het
Baiap3	A	G	17: 25,249,108	C311R	possibly damaging	Het
Becn1	A	C	11: 101,294,226	S137R	probably benign	Het
C1qtnf6	G	T	15: 78,525,374	T91K	probably benign	Het
C8a	T	C	4: 104,861,429	K110E	probably damaging	Het
Camta2	A	G	11: 70,683,888		probably null	Het
Capn8	T	A	1: 182,598,675	Y192N	probably damaging	Het
Ccdc170	C	T	10: 4,558,512	Q579*	probably null	Het
Cenpa	G	T	5: 30,666,948		probably benign	Het
Cltc	A	G	11: 86,725,228	V404A	probably benign	Het
Cyp3a11	A	T	5: 145,865,900	L261Q	probably benign	Het
Daw1	T	A	1: 83,192,715	S249R	probably benign	Het
Dchs1	T	A	7: 105,754,948	I2796F	probably benign	Het
Dis3l2	T	C	1: 86,745,500		probably null	Het
Dnah5	A	T	15: 28,346,952	D2527V	probably damaging	Het
Dsg4	G	A	18: 20,466,628	R767Q	probably damaging	Het
Edaradd	A	G	13: 12,478,457	I118T	probably damaging	Het
Fam60a	A	G	6: 148,933,102	Y10H	probably benign	Het
Fam83h	A	G	15: 76,004,426	F354S	possibly damaging	Het
Fat3	A	G	9: 15,988,482	V3085A	probably benign	Het
Fer	A	G	17: 64,133,521	D711G	possibly damaging	Het
G6pc	G	T	11: 101,376,677	V318F	probably benign	Het
Gal3st1	C	A	11: 3,998,227	H145N	probably benign	Het
Gm13088	T	C	4: 143,655,560	I189V	probably damaging	Het
Helz	C	T	11: 107,662,030	P1211S	probably damaging	Het
Herc1	A	G	9: 66,394,756	I667V	probably benign	Het
Herc2	T	A	7: 56,103,718		probably null	Het
Hivep1	C	T	13: 42,154,911	T209I	probably damaging	Het
Hsph1	A	G	5: 149,619,020	Y678H	probably damaging	Het
Ift122	C	T	6: 115,926,302	R1176C	probably benign	Het
Ighv1-23	T	C	12: 114,764,475	D109G	probably damaging	Het
Itgb3	T	C	11: 104,643,577	V420A	possibly damaging	Het
Kcnk13	C	A	12: 100,061,726	N353K	probably damaging	Het
Kif21a	A	G	15: 90,993,796	F270L	probably benign	Het
Kit	T	A	5: 75,639,000	V464D	probably benign	Het
Klhl36	G	A	8: 119,870,175	W205*	probably null	Het
Krt17	A	G	11: 100,258,465	Y260H	probably damaging	Het
Lats1	C	T	10: 7,712,942	Q1108*	probably null	Het
Lrch1	G	A	14: 74,757,037	T709I	possibly damaging	Het
Lrrc58	C	A	16: 37,868,691	Q66K	probably benign	Het
Mei1	G	A	15: 82,115,481	A664T		Het
Mtmr6	C	T	14: 60,300,304	T546M	probably benign	Het
Ncoa3	T	A	2: 166,068,529	F1288L	probably damaging	Het
Nwd1	G	T	8: 72,707,830	V1352L	probably benign	Het
Olfr1283	T	A	2: 111,369,362	H243Q	probably damaging	Het
Olfr199	A	T	16: 59,216,398	C72S	probably benign	Het
Ovol3	C	T	7: 30,235,221		probably null	Het
Palb2	C	A	7: 122,117,331	V843L	probably damaging	Het
Pds5a	T	A	5: 65,652,535		probably null	Het
Per1	A	G	11: 69,104,735	S714G	possibly damaging	Het
Plch2	G	A	4: 155,000,460	R442C	probably damaging	Het
Pon2	A	T	6: 5,289,080	S26R	probably benign	Het
Ppp1r9a	A	T	6: 5,115,378	N834Y	probably damaging	Het
Rbm46	C	T	3: 82,842,488	W483*	probably null	Het
Rnd1	A	T	15: 98,673,901	V88E	probably damaging	Het
Sbno2	T	A	10: 80,069,575	T142S	unknown	Het
Scn9a	C	T	2: 66,547,187	V384M	possibly damaging	Het
Sertad4	T	A	1: 192,846,710	H266L	possibly damaging	Het
Setd5	T	A	6: 113,115,082	M288K	possibly damaging	Het
Sfxn4	T	A	19: 60,857,361	N66Y	probably damaging	Het
Skint6	T	A	4: 113,238,228	N78I	probably damaging	Het
Sltm	G	T	9: 70,573,466	G200V	unknown	Het
Smg1	A	G	7: 118,195,893	I477T	unknown	Het
Supv3l1	C	T	10: 62,430,470		probably null	Het
Syne2	A	G	12: 76,015,563	R4220G	probably benign	Het
Tbr1	A	T	2: 61,804,817	H37L	possibly damaging	Het
Tet3	TGGCCCAGGCCCAGGC	TGGCCCAGGCCCAGGCCCAGGC	6: 83,368,229		probably benign	Het
Tmem231	G	T	8: 111,918,408	S155R	probably damaging	Het
Trem3	A	G	17: 48,258,470	*184W	probably null	Het
Trim33	T	A	3: 103,346,640		probably benign	Het
Tsen2	G	A	6: 115,559,982	W233*	probably null	Het
Ttc21a	T	A	9: 119,945,539	N286K	probably damaging	Het
Tulp4	A	T	17: 6,198,708	M194L	probably benign	Het
Ube3b	C	A	5: 114,415,284	R906S	possibly damaging	Het
Ube3b	A	C	5: 114,418,626	D1006A	probably damaging	Het
Vipas39	A	T	12: 87,241,931		probably null	Het
Zan	T	G	5: 137,425,562	I2692L	unknown	Het
Zfp142	C	A	1: 74,585,520	E48D	probably benign	Het
Zfp598	T	C	17: 24,677,530	Y194H	probably damaging	Het
Zfp85	T	C	13: 67,748,945	N336S	probably benign	Het
Zfyve27	A	T	19: 42,189,520		probably null	Het
Zp3	T	C	5: 135,982,705	S126P	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
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'- TAGAGTGTCGACTGCTTTGC -3'
(R):5'- TCCGGTTTGGTACTGATTATGTACC -3'

Sequencing Primer
(F):5'- CGACTGCTTTGCTATATTGGAAG -3'
(R):5'- TGGCTATTCTAACTGGATAGAAGTTC -3'

Posted On

2019-10-07