Mutagenetix > Incidental Mutation

Incidental Mutation 'R7403:Wdr35'

574356

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 #

R7403 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8973892-9028847 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9012685 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 635 (I635V)

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: I635V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000082895
Gene: ENSMUSG00000066643
AA Change: I635V

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: I624V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106742
Gene: ENSMUSG00000066643
AA Change: I624V

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: 99.7%
20x: 99.0%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Appl2	G	A	10: 83,614,195	A271V	probably benign	Het
Brpf3	C	T	17: 28,821,356	T917I	probably benign	Het
Camta1	G	A	4: 151,453,295	Q143*	probably null	Het
Ccdc129	T	A	6: 55,976,414	L905*	probably null	Het
Cd3e	C	A	9: 45,002,292	E48D	probably benign	Het
Clca3b	A	G	3: 144,823,498	L805P	probably benign	Het
Crispld1	A	G	1: 17,747,596	Y241C	probably damaging	Het
Ddx43	T	G	9: 78,413,851	N380K	probably damaging	Het
Dtl	A	T	1: 191,563,173	V155E	probably damaging	Het
Elp2	A	G	18: 24,619,485	H365R	probably damaging	Het
Fam126b	A	T	1: 58,548,702	D117E	possibly damaging	Het
Fam78a	T	C	2: 32,069,615	N161S	probably damaging	Het
Far2	T	C	6: 148,158,977	I276T	possibly damaging	Het
Frem3	T	C	8: 80,616,145	L1689P	probably damaging	Het
Gak	T	C	5: 108,613,535	K210R	probably benign	Het
Gm21319	G	T	12: 87,773,544	Q82K	probably benign	Het
Gna14	G	T	19: 16,599,081	D151Y		Het
Hdhd2	A	G	18: 76,955,040	D55G	probably benign	Het
Ifna5	A	G	4: 88,835,873	N117D	probably benign	Het
Ikbkap	A	T	4: 56,778,994	C608S	probably damaging	Het
Il16	T	A	7: 83,670,135	T383S	probably damaging	Het
Il1f5	T	C	2: 24,281,202	F101L	probably damaging	Het
Ino80d	A	G	1: 63,062,219	V416A	possibly damaging	Het
Ints6	T	C	14: 62,707,655	R409G	possibly damaging	Het
Itgb5	G	T	16: 33,902,793		probably null	Het
Kcnq3	T	A	15: 66,002,217	R561W	probably damaging	Het
Kdelc2	T	A	9: 53,390,441	V131E	probably damaging	Het
Lipo4	C	T	19: 33,503,279	E230K	possibly damaging	Het
Lrrc7	A	T	3: 158,148,674	L1299*	probably null	Het
Mcm3ap	T	C	10: 76,482,823		probably null	Het
Mok	A	T	12: 110,815,129		probably null	Het
Mylk2	T	A	2: 152,917,341	V344E	probably damaging	Het
Oacyl	T	C	18: 65,737,895	V389A	probably benign	Het
Olfr284	T	C	15: 98,340,119	Y290C	probably damaging	Het
Olfr335-ps	T	C	2: 36,302,330	F264L	probably benign	Het
Oplah	T	C	15: 76,305,009	D278G	probably benign	Het
Padi3	T	C	4: 140,800,119	N124D	probably benign	Het
Parp3	T	C	9: 106,474,853	S107G	probably benign	Het
Pcdhb18	G	A	18: 37,491,897	G760D	probably benign	Het
Plekhh1	G	A	12: 79,040,577	W13*	probably null	Het
Pou2f1	C	T	1: 165,911,386	A166T	unknown	Het
Ppp1r10	C	T	17: 35,929,434	P539S	probably benign	Het
Prdm11	T	C	2: 92,986,691	T310A	probably benign	Het
Rbm25	A	G	12: 83,676,134	Y777C	probably damaging	Het
Relt	A	T	7: 100,851,448	C72S	probably damaging	Het
Rhag	T	A	17: 40,834,658	I334N	probably damaging	Het
Rhbdf2	A	C	11: 116,600,419	L630R	probably damaging	Het
Rnps1	T	C	17: 24,425,087	S274P	unknown	Het
Rtkn2	A	G	10: 68,005,636	I205V	probably benign	Het
Ryr1	A	T	7: 29,013,867	V4690E	probably benign	Het
Secisbp2l	T	C	2: 125,760,279	Y387C	possibly damaging	Het
Sema3d	A	T	5: 12,497,584	I158F	probably damaging	Het
Slc17a1	A	G	13: 23,874,707	N48S	probably benign	Het
Slc2a1	G	A	4: 119,132,555	G130S	probably damaging	Het
Slc6a3	T	C	13: 73,562,427		probably null	Het
Snx27	A	T	3: 94,528,926	S261T	probably damaging	Het
Spag17	A	T	3: 99,939,375	I72F	possibly damaging	Het
Spink6	T	G	18: 44,071,497	L10R	unknown	Het
Swt1	G	A	1: 151,388,693	T690I	probably benign	Het
Syne2	G	A	12: 75,915,246	E729K	not run	Het
Synj2	C	T	17: 6,037,730	T1352M	possibly damaging	Het
Taar4	G	A	10: 23,961,059	G189D	probably damaging	Het
Thsd4	T	C	9: 60,056,887	N441D	probably damaging	Het
Tm9sf2	A	G	14: 122,141,228	D248G	probably benign	Het
Tmem69	A	T	4: 116,553,467	L102Q	probably damaging	Het
Tshr	A	G	12: 91,497,774	Y98C	probably damaging	Het
Tspan1	A	G	4: 116,163,022	V230A	probably benign	Het
Upk3a	T	C	15: 85,019,508	V136A	possibly damaging	Het
Ush2a	T	A	1: 188,633,727	N2259K	probably damaging	Het
Usp24	A	G	4: 106,407,035	D1721G	possibly damaging	Het
Vldlr	T	A	19: 27,236,274	C120*	probably null	Het
Vmn2r23	A	T	6: 123,704,579	I149L	probably benign	Het
Vps8	A	T	16: 21,434,972	E21V	possibly damaging	Het
Zfp955a	T	C	17: 33,243,746	D58G	probably benign	Het
Zkscan5	A	G	5: 145,218,593	Q358R	probably benign	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
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'- GCAGCAGCATGGTAACTAGG -3'
(R):5'- ACCTTGCAAAAGGAAGGATAACTTG -3'

Sequencing Primer
(F):5'- CATGGTAACTAGGTGATGGGC -3'
(R):5'- CTGATTAGAAAGCCCAGGTGTCC -3'

Posted On

2019-09-13