Mutagenetix > Incidental Mutation

Incidental Mutation 'R7491:Wdr35'

580783

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 #

R7491 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8973892-9028847 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8986000 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 257 (V257A)

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: V257A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000082895
Gene: ENSMUSG00000066643
AA Change: V257A

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: V257A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106742
Gene: ENSMUSG00000066643
AA Change: V257A

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: 99.9%
10x: 99.7%
20x: 98.9%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	G	T	2: 68,614,755		probably null	Het
5730522E02Rik	A	T	11: 25,769,014	V44E	unknown	Het
Adcy9	A	G	16: 4,418,809	L246S	possibly damaging	Het
Adk	C	T	14: 21,234,929	H123Y	probably damaging	Het
Adra1b	T	A	11: 43,835,967	D41V	probably benign	Het
Ankib1	T	G	5: 3,701,911	K710Q	probably damaging	Het
Aoc2	T	A	11: 101,328,377	V542D	probably benign	Het
Arhgef28	T	C	13: 97,944,686	N1221S	probably benign	Het
Arntl	T	C	7: 113,299,424	V353A	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	CACTGGTTCTGTGGTTACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	3: 95,888,138		probably benign	Het
Cacna1a	C	A	8: 84,559,293	R856S	possibly damaging	Het
Cacna1c	T	C	6: 118,613,343	M1559V		Het
Cdh10	G	C	15: 19,013,359	E682Q	probably damaging	Het
Celsr1	T	C	15: 86,032,518	D418G	possibly damaging	Het
Cfap44	T	C	16: 44,470,748	L1537P	probably damaging	Het
Clca3a2	A	G	3: 144,813,579	S279P	probably damaging	Het
Col2a1	C	T	15: 97,976,159	V1449I	not run	Het
Cpt2	A	G	4: 107,907,142	F475S	probably damaging	Het
Cpxm1	T	C	2: 130,393,567	T502A	probably benign	Het
Creb3l2	G	T	6: 37,379,859	T91N	probably benign	Het
D630045J12Rik	A	T	6: 38,142,666	S1714T	possibly damaging	Het
Dennd1c	C	A	17: 57,072,379	V246F	probably damaging	Het
Dse	A	G	10: 34,152,565	V843A	probably benign	Het
Ern2	C	A	7: 122,170,533	W810L	probably damaging	Het
Fer1l6	G	A	15: 58,600,432	D906N	probably damaging	Het
Fry	A	G	5: 150,466,326	E140G		Het
Galnt7	A	G	8: 57,552,518	V227A	probably damaging	Het
Gas2l3	A	G	10: 89,413,901	S452P	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gm826	A	T	2: 160,312,022	S34T	unknown	Het
Gzmk	A	T	13: 113,172,001	I222N	probably benign	Het
Hivep3	A	T	4: 120,098,830	T1448S	probably benign	Het
Hk1	T	C	10: 62,295,745	D278G	probably damaging	Het
Ipo7	C	A	7: 110,039,194	Q223K	possibly damaging	Het
Itga9	T	A	9: 118,769,111	I571N	probably damaging	Het
Itgb6	T	C	2: 60,620,376	Y573C	probably damaging	Het
Kmt2c	T	A	5: 25,284,564	H4459L	probably damaging	Het
Limch1	T	G	5: 67,054,237	S894R	probably damaging	Het
Lrit2	A	T	14: 37,068,910	Q182L	possibly damaging	Het
Mlph	A	T	1: 90,939,378	H374L	possibly damaging	Het
Mmrn2	A	G	14: 34,399,417	H748R	probably damaging	Het
Mrpl58	T	C	11: 115,410,266	V134A	possibly damaging	Het
Nae1	A	T	8: 104,518,239	D353E	probably benign	Het
Naip5	A	C	13: 100,217,071	F1227V	probably benign	Het
Nln	A	T	13: 104,069,323	F108I	probably damaging	Het
Nop16	C	T	13: 54,588,604	V94I	probably benign	Het
Nt5c1b	A	T	12: 10,374,903	T150S	probably benign	Het
Olfr960	T	G	9: 39,623,972	I281S	possibly damaging	Het
Pcdha4	T	C	18: 36,954,636	V624A	probably damaging	Het
Pcdhga8	T	C	18: 37,727,430	I513T	probably benign	Het
Prc1	A	T	7: 80,309,491		probably null	Het
Prpf4	T	A	4: 62,417,876	F280Y	probably damaging	Het
Ptprd	T	C	4: 76,133,155	E43G	probably benign	Het
Pum1	T	A	4: 130,719,174	D181E	probably benign	Het
Rab7	A	G	6: 88,013,642	S17P	probably damaging	Het
Rgs1	T	C	1: 144,245,396	Y179C	probably damaging	Het
Rrm1	T	C	7: 102,454,557	C238R	probably damaging	Het
Rusc2	T	A	4: 43,426,528	L1484Q	probably damaging	Het
Sall3	C	T	18: 80,972,705	M669I	probably benign	Het
Saxo1	A	C	4: 86,445,407	F280V	probably benign	Het
Scn2a	T	C	2: 65,702,008	S655P	probably damaging	Het
Senp6	G	T	9: 80,123,728	E571*	probably null	Het
Sin3b	C	G	8: 72,746,441	T463S	probably damaging	Het
Sirt7	C	A	11: 120,619,011	R349L	probably benign	Het
Skor1	T	C	9: 63,146,448	T80A	probably damaging	Het
Slc12a9	C	A	5: 137,322,820	A478S	probably damaging	Het
Slc25a23	T	A	17: 57,052,822	R310*	probably null	Het
Slco6c1	A	T	1: 97,127,854	H107Q	probably benign	Het
Slit2	A	G	5: 48,219,994	E455G	probably benign	Het
Smo	G	C	6: 29,736,120	G37A	probably damaging	Het
St6galnac1	T	C	11: 116,769,184	K101R	probably benign	Het
Stat1	C	A	1: 52,152,371	N628K	probably benign	Het
Syn2	A	T	6: 115,254,654	Y302F	probably benign	Het
Tapt1	T	G	5: 44,188,636	Q324P	probably damaging	Het
Tcrg-V3	T	A	13: 19,242,846	M1K	probably null	Het
Tgoln1	C	T	6: 72,616,420	A26T	unknown	Het
Timm13	T	A	10: 80,900,544	T43S	probably benign	Het
Tnfrsf19	G	A	14: 61,005,205	P77S	possibly damaging	Het
Trem3	T	G	17: 48,257,941	F157V	probably benign	Het
Trim33	T	A	3: 103,326,148	S420T	probably benign	Het
Trip11	T	C	12: 101,885,435	K790R	probably damaging	Het
Trnt1	A	G	6: 106,778,904	T307A	probably benign	Het
Tshz1	T	C	18: 84,015,641	Y214C	probably damaging	Het
Vmn2r105	T	A	17: 20,228,565	T117S	probably benign	Het
Vmn2r45	A	G	7: 8,481,343	Y488H	probably benign	Het
Vwa8	A	T	14: 79,082,814	K1088N	probably benign	Het
Zfp189	T	A	4: 49,521,569	S3T	probably benign	Het
Zscan22	G	A	7: 12,906,906	C359Y	probably damaging	Het
Zscan4-ps2	A	T	7: 11,517,885	R283*	probably null	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
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'- AATGCGGCATGAGAATGACC -3'
(R):5'- TTTCCCTGATTACGGCTGTG -3'

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

Posted On

2019-10-17