Mutagenetix > Incidental Mutation

Incidental Mutation 'R0025:Wdr36'

40833

Institutional Source

Beutler Lab

Gene Symbol

Wdr36

Ensembl Gene

ENSMUSG00000038299

Gene Name

WD repeat domain 36

Synonyms

5730444A13Rik

MMRRC Submission

038320-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0025 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32970241-33000008 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32992360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 632 (D632E)

Ref Sequence

ENSEMBL: ENSMUSP00000132189 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053663] [ENSMUST00000166214]

AlphaFold

Q3TAQ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000053663
AA Change: D632E

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

SMART Domains

Protein: ENSMUSP00000052465
Gene: ENSMUSG00000038299
AA Change: D632E

Domain	Start	End	E-Value	Type
WD40	98	135	3.21e-1	SMART
Blast:WD40	140	180	3e-15	BLAST
WD40	183	222	9.21e0	SMART
WD40	226	265	1.43e0	SMART
WD40	268	308	5.35e-1	SMART
WD40	315	355	7.43e-1	SMART
WD40	473	515	1.46e-1	SMART
WD40	559	598	2.2e-10	SMART
WD40	601	640	1.43e1	SMART
Pfam:Utp21	673	895	9.7e-72	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000166214
AA Change: D632E

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

SMART Domains

Protein: ENSMUSP00000132189
Gene: ENSMUSG00000038299
AA Change: D632E

Domain	Start	End	E-Value	Type
WD40	98	135	3.21e-1	SMART
Blast:WD40	140	180	3e-15	BLAST
WD40	183	222	9.21e0	SMART
WD40	226	265	1.43e0	SMART
WD40	268	308	5.35e-1	SMART
WD40	315	355	7.43e-1	SMART
WD40	473	515	1.46e-1	SMART
WD40	559	598	2.2e-10	SMART
WD40	601	640	1.43e1	SMART
Pfam:Utp21	668	883	6.1e-72	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.3%

Validation Efficiency

98% (115/117)

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. Mutations in this gene have been associated with adult-onset primary open-angle glaucoma (POAG). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to complete embryonic lethality before implantation. In culture, homozygous mutant embryos fail to reach the blastocyst stage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	A	T	7: 119,257,538 (GRCm39)	T435S	probably damaging	Het
Agtpbp1	G	A	13: 59,648,014 (GRCm39)	T602I	probably benign	Het
Ahnak2	T	A	12: 112,749,154 (GRCm39)	D231V	probably damaging	Het
Ampd3	G	A	7: 110,392,876 (GRCm39)	D215N	probably benign	Het
Ankrd17	T	C	5: 90,398,264 (GRCm39)	D1762G	probably damaging	Het
Asb8	C	T	15: 98,040,552 (GRCm39)	V37I	possibly damaging	Het
Bicra	T	C	7: 15,721,436 (GRCm39)	T694A	possibly damaging	Het
Btnl6	A	T	17: 34,733,273 (GRCm39)	M234K	probably benign	Het
Ccnb1	A	T	13: 100,916,289 (GRCm39)	V336D	probably damaging	Het
Cdca8	A	T	4: 124,815,047 (GRCm39)	L190Q	possibly damaging	Het
Cep290	A	T	10: 100,373,693 (GRCm39)	L1324F	probably damaging	Het
Ces1f	T	C	8: 93,998,513 (GRCm39)	E161G	probably benign	Het
Ces2g	A	G	8: 105,692,628 (GRCm39)		probably benign	Het
Cfap74	C	T	4: 155,510,572 (GRCm39)	R386C	probably benign	Het
Clec3b	A	G	9: 122,986,090 (GRCm39)	T163A	probably benign	Het
Cntnap4	T	G	8: 113,529,796 (GRCm39)	L668R	probably damaging	Het
Col27a1	A	G	4: 63,194,214 (GRCm39)	D857G	probably damaging	Het
Csf1	A	G	3: 107,655,960 (GRCm39)	V245A	probably benign	Het
Ctss	A	G	3: 95,457,448 (GRCm39)	Y302C	probably damaging	Het
Cyb5d1	A	G	11: 69,285,792 (GRCm39)		probably null	Het
Cyp1a2	A	G	9: 57,589,344 (GRCm39)	S157P	probably damaging	Het
Cyp2b9	A	T	7: 25,900,238 (GRCm39)	T349S	probably benign	Het
Dennd6b	T	C	15: 89,070,386 (GRCm39)	I428V	probably benign	Het
Denr	A	G	5: 124,065,298 (GRCm39)		probably benign	Het
Dnah9	G	A	11: 65,860,781 (GRCm39)		probably benign	Het
Dock3	G	T	9: 106,790,467 (GRCm39)	Q1419K	possibly damaging	Het
Dph3b-ps	A	T	13: 106,683,375 (GRCm39)		noncoding transcript	Het
Emc7	G	T	2: 112,289,830 (GRCm39)	D87Y	probably damaging	Het
Enah	T	C	1: 181,740,938 (GRCm39)	E462G	possibly damaging	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Enpp6	A	G	8: 47,519,035 (GRCm39)	K268E	probably damaging	Het
Eps15l1	T	G	8: 73,135,341 (GRCm39)		probably benign	Het
Fam151a	T	C	4: 106,605,371 (GRCm39)	Y578H	probably benign	Het
Fmn2	T	C	1: 174,618,880 (GRCm39)	V1512A	probably damaging	Het
Focad	C	A	4: 88,327,196 (GRCm39)	N168K	probably benign	Het
Fyco1	A	G	9: 123,658,074 (GRCm39)	C701R	probably damaging	Het
Gabbr1	G	T	17: 37,378,102 (GRCm39)		probably benign	Het
Golga7b	A	T	19: 42,255,278 (GRCm39)	E76V	probably damaging	Het
Gucy2d	A	G	7: 98,116,959 (GRCm39)	D924G	probably benign	Het
H2-M9	A	G	17: 36,952,647 (GRCm39)	F133S	probably damaging	Het
Hc	A	G	2: 34,876,304 (GRCm39)	Y1581H	probably damaging	Het
Herc3	C	T	6: 58,851,293 (GRCm39)	P514L	probably damaging	Het
Hormad1	T	C	3: 95,492,436 (GRCm39)		probably benign	Het
Iigp1	T	A	18: 60,523,859 (GRCm39)	S326T	possibly damaging	Het
Itga2	G	A	13: 115,007,032 (GRCm39)	S432L	possibly damaging	Het
Kcnk7	T	G	19: 5,757,042 (GRCm39)	*344G	probably null	Het
Kif13a	A	G	13: 46,939,987 (GRCm39)		probably null	Het
Kif1a	A	C	1: 92,970,080 (GRCm39)	I1027S	probably damaging	Het
Kif2c	G	T	4: 117,022,714 (GRCm39)	H416Q	probably damaging	Het
Liat1	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	11: 75,890,941 (GRCm39)		probably benign	Het
Map3k1	A	G	13: 111,892,663 (GRCm39)	V864A	probably benign	Het
Mark2	T	C	19: 7,263,287 (GRCm39)	D160G	probably damaging	Het
Mbd4	A	G	6: 115,821,529 (GRCm39)		probably null	Het
Micu1	A	G	10: 59,624,699 (GRCm39)		probably null	Het
Mink1	T	C	11: 70,503,868 (GRCm39)	W1263R	probably damaging	Het
Mov10	A	C	3: 104,711,919 (GRCm39)	L224R	probably damaging	Het
Ndel1	T	C	11: 68,726,999 (GRCm39)	E226G	probably damaging	Het
Neb	A	T	2: 52,112,786 (GRCm39)	V4336E	probably damaging	Het
Nln	T	A	13: 104,173,399 (GRCm39)	K602N	probably damaging	Het
Nlrp14	A	T	7: 106,780,465 (GRCm39)		probably benign	Het
Nmd3	A	T	3: 69,655,654 (GRCm39)	D445V	probably damaging	Het
Nop14	T	C	5: 34,801,297 (GRCm39)	I625V	probably benign	Het
Notch1	T	C	2: 26,360,943 (GRCm39)	Q1134R	probably damaging	Het
Nr4a2	T	C	2: 56,998,627 (GRCm39)	I392M	probably benign	Het
Or13n4	A	G	7: 106,422,963 (GRCm39)	F257L	possibly damaging	Het
Or4f6	T	A	2: 111,839,365 (GRCm39)	L55F	probably damaging	Het
Or8b57	A	G	9: 40,003,549 (GRCm39)	S234P	probably damaging	Het
Osbp	T	C	19: 11,961,322 (GRCm39)	Y454H	probably damaging	Het
Pak4	G	A	7: 28,263,708 (GRCm39)	R343C	probably damaging	Het
Pak5	T	C	2: 135,942,704 (GRCm39)	K479E	possibly damaging	Het
Pard3	C	A	8: 127,888,058 (GRCm39)	D73E	probably damaging	Het
Pcdh10	T	C	3: 45,334,934 (GRCm39)	V416A	possibly damaging	Het
Plek	A	C	11: 16,935,594 (GRCm39)	W261G	probably damaging	Het
Pmp22	A	T	11: 63,049,076 (GRCm39)		probably null	Het
Prph2	A	C	17: 47,230,697 (GRCm39)	K197Q	probably benign	Het
Prss45	T	A	9: 110,669,962 (GRCm39)	L257Q	probably damaging	Het
Psmb6	C	A	11: 70,417,171 (GRCm39)	H73Q	probably benign	Het
Rin2	T	C	2: 145,720,752 (GRCm39)		probably benign	Het
Rps6kb1	A	T	11: 86,402,413 (GRCm39)		probably null	Het
Scn10a	C	A	9: 119,499,550 (GRCm39)	D248Y	probably damaging	Het
Scn4a	C	T	11: 106,215,386 (GRCm39)	V1197I	probably benign	Het
Siglecf	A	T	7: 43,001,349 (GRCm39)	I106F	probably benign	Het
Sik1	A	G	17: 32,066,249 (GRCm39)		probably benign	Het
Slc22a21	T	G	11: 53,870,514 (GRCm39)	N57T	probably damaging	Het
Slc36a2	A	G	11: 55,053,621 (GRCm39)	L339P	probably damaging	Het
Slc4a9	G	T	18: 36,664,719 (GRCm39)		probably benign	Het
Smg1	G	A	7: 117,811,666 (GRCm39)	T104I	possibly damaging	Het
Stc2	A	T	11: 31,315,559 (GRCm39)		probably null	Het
Stx18	T	A	5: 38,249,908 (GRCm39)	Y74N	probably damaging	Het
Stxbp5	A	T	10: 9,638,492 (GRCm39)	H1102Q	probably damaging	Het
Tnfaip8l2	G	A	3: 95,047,339 (GRCm39)	L175F	probably damaging	Het
Tom1l2	T	C	11: 60,120,960 (GRCm39)	K450E	probably damaging	Het
Tpo	T	C	12: 30,150,389 (GRCm39)	Q497R	probably benign	Het
Tprg1l	G	T	4: 154,244,802 (GRCm39)		probably benign	Het
Triml2	A	G	8: 43,638,469 (GRCm39)	M146V	probably benign	Het
Tsc2	A	G	17: 24,849,978 (GRCm39)		probably benign	Het
Tut7	A	T	13: 59,953,142 (GRCm39)	D99E	probably benign	Het
Vit	G	A	17: 78,907,264 (GRCm39)	G229R	probably benign	Het
Vmn2r19	C	T	6: 123,308,506 (GRCm39)	L528F	probably benign	Het
Vwf	T	A	6: 125,659,775 (GRCm39)	I2658N	probably benign	Het
Wdfy3	T	C	5: 101,992,912 (GRCm39)	D3341G	probably damaging	Het
Wdr47	G	T	3: 108,545,307 (GRCm39)	A733S	probably damaging	Het
Zfp458	T	A	13: 67,405,962 (GRCm39)	H156L	probably damaging	Het
Zfp654	A	G	16: 64,605,181 (GRCm39)	V466A	probably benign	Het
Zfp804b	T	C	5: 6,821,665 (GRCm39)	E466G	probably damaging	Het
Zfp941	T	C	7: 140,393,185 (GRCm39)	D58G	probably benign	Het

Other mutations in Wdr36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00925:Wdr36	APN	18	32,978,684 (GRCm39)	missense	possibly damaging	0.86
IGL01975:Wdr36	APN	18	32,985,541 (GRCm39)	missense	probably damaging	1.00
IGL02001:Wdr36	APN	18	32,985,941 (GRCm39)	missense	probably damaging	1.00
IGL02605:Wdr36	APN	18	32,985,044 (GRCm39)	missense	possibly damaging	0.94
IGL02625:Wdr36	APN	18	32,992,314 (GRCm39)	missense	possibly damaging	0.51
IGL02928:Wdr36	APN	18	32,980,372 (GRCm39)	critical splice donor site	probably null
R0025:Wdr36	UTSW	18	32,992,360 (GRCm39)	missense	probably damaging	1.00
R0062:Wdr36	UTSW	18	32,997,802 (GRCm39)	missense	possibly damaging	0.90
R0062:Wdr36	UTSW	18	32,997,802 (GRCm39)	missense	possibly damaging	0.90
R0331:Wdr36	UTSW	18	32,985,968 (GRCm39)	missense	possibly damaging	0.83
R0626:Wdr36	UTSW	18	32,983,584 (GRCm39)	missense	probably damaging	1.00
R0835:Wdr36	UTSW	18	32,982,135 (GRCm39)	missense	possibly damaging	0.87
R1484:Wdr36	UTSW	18	32,976,938 (GRCm39)	missense	possibly damaging	0.77
R1498:Wdr36	UTSW	18	32,986,021 (GRCm39)	missense	possibly damaging	0.95
R3522:Wdr36	UTSW	18	32,994,538 (GRCm39)	splice site	probably null
R4521:Wdr36	UTSW	18	32,974,201 (GRCm39)	splice site	probably null
R4902:Wdr36	UTSW	18	32,992,314 (GRCm39)	missense	possibly damaging	0.51
R5482:Wdr36	UTSW	18	32,974,957 (GRCm39)	missense	probably benign	0.19
R5574:Wdr36	UTSW	18	32,999,012 (GRCm39)	missense	probably damaging	1.00
R5627:Wdr36	UTSW	18	32,994,691 (GRCm39)	missense	possibly damaging	0.73
R6076:Wdr36	UTSW	18	32,979,998 (GRCm39)	missense	probably damaging	1.00
R6186:Wdr36	UTSW	18	32,985,954 (GRCm39)	missense	probably benign	0.19
R6228:Wdr36	UTSW	18	32,975,059 (GRCm39)	missense	possibly damaging	0.67
R7027:Wdr36	UTSW	18	32,974,958 (GRCm39)	missense	probably benign	0.04
R7112:Wdr36	UTSW	18	32,972,504 (GRCm39)	missense	probably benign	0.34
R7635:Wdr36	UTSW	18	32,983,578 (GRCm39)	missense	probably benign	0.19
R7642:Wdr36	UTSW	18	32,987,624 (GRCm39)	splice site	probably null
R7998:Wdr36	UTSW	18	32,985,572 (GRCm39)	missense	probably damaging	1.00
R8200:Wdr36	UTSW	18	32,998,979 (GRCm39)	missense	probably benign	0.10
R8203:Wdr36	UTSW	18	32,985,136 (GRCm39)	nonsense	probably null
R8257:Wdr36	UTSW	18	32,974,339 (GRCm39)	intron	probably benign
R8334:Wdr36	UTSW	18	32,992,346 (GRCm39)	missense	possibly damaging	0.95
R8845:Wdr36	UTSW	18	32,994,098 (GRCm39)	nonsense	probably null
R8894:Wdr36	UTSW	18	32,970,340 (GRCm39)	start gained	probably benign
R8901:Wdr36	UTSW	18	32,980,013 (GRCm39)	missense	probably damaging	1.00
R9044:Wdr36	UTSW	18	32,970,499 (GRCm39)	missense	probably damaging	1.00
R9181:Wdr36	UTSW	18	32,981,382 (GRCm39)	missense	possibly damaging	0.83
R9565:Wdr36	UTSW	18	32,994,168 (GRCm39)	nonsense	probably null
R9800:Wdr36	UTSW	18	32,985,700 (GRCm39)	missense	possibly damaging	0.94
X0063:Wdr36	UTSW	18	32,997,775 (GRCm39)	missense	probably damaging	0.96
Z1088:Wdr36	UTSW	18	32,999,065 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TCACACAGGAGCTGAGTTGACAAAG -3'
(R):5'- GTGCCTTACTTCACAAAGCACACTG -3'

Sequencing Primer
(F):5'- TTGACAAAGCAGTGGTTAGTGG -3'
(R):5'- CACACTGAAGTTCAGAAGTGATTAGC -3'

Posted On

2013-05-23