Mutagenetix > Incidental Mutation

Incidental Mutation 'R7635:Wdr36'

589931

Institutional Source

Beutler Lab

Gene Symbol

Wdr36

Ensembl Gene

ENSMUSG00000038299

Gene Name

WD repeat domain 36

Synonyms

5730444A13Rik

MMRRC Submission

045694-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7635 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32970241-33000008 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32983578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 443 (L443P)

Ref Sequence

ENSEMBL: ENSMUSP00000052465 (fasta)

Gene Model

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

AlphaFold

Q3TAQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000053663
AA Change: L443P

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000052465
Gene: ENSMUSG00000038299
AA Change: L443P

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 benign
Transcript: ENSMUST00000166214
AA Change: L443P

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000132189
Gene: ENSMUSG00000038299
AA Change: L443P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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. 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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	C	9: 108,274,605 (GRCm39)	D236A	probably damaging	Het
Adamts7	C	T	9: 90,077,298 (GRCm39)	P1322S	probably damaging	Het
AI661453	A	T	17: 47,778,676 (GRCm39)	T801S	unknown	Het
Alpk1	A	G	3: 127,489,310 (GRCm39)	V123A	probably benign	Het
Ap2b1	T	C	11: 83,280,554 (GRCm39)	V827A	probably benign	Het
Aqp5	T	A	15: 99,492,059 (GRCm39)	I219N	probably benign	Het
Astn1	G	A	1: 158,495,105 (GRCm39)	W1051*	probably null	Het
Atp8b1	T	C	18: 64,706,376 (GRCm39)	D211G	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
Bsn	A	G	9: 107,988,189 (GRCm39)	V2521A	unknown	Het
Car7	T	C	8: 105,275,069 (GRCm39)	V169A	probably damaging	Het
Catip	T	A	1: 74,408,121 (GRCm39)	D484E	unknown	Het
Ccdc18	T	C	5: 108,376,915 (GRCm39)		probably null	Het
Cdyl	T	C	13: 36,055,634 (GRCm39)	V518A	probably damaging	Het
Cep350	A	T	1: 155,754,767 (GRCm39)	C1949*	probably null	Het
Cinp	A	G	12: 110,850,447 (GRCm39)	V18A	possibly damaging	Het
Clec14a	A	G	12: 58,315,314 (GRCm39)	C103R	probably damaging	Het
Cplane1	A	G	15: 8,256,404 (GRCm39)	I1955V	probably benign	Het
Dnah8	G	C	17: 31,004,081 (GRCm39)	E3655Q	probably damaging	Het
Dnajc11	T	C	4: 152,053,068 (GRCm39)	I164T	probably damaging	Het
Dnajc13	A	T	9: 104,039,566 (GRCm39)	M2101K	probably benign	Het
Ephb4	A	G	5: 137,370,365 (GRCm39)	D864G	probably damaging	Het
Fads2b	T	A	2: 85,330,581 (GRCm39)	H242L	probably benign	Het
Fkbp5	T	C	17: 28,647,335 (GRCm39)	T167A	probably benign	Het
Foxf2	C	A	13: 31,810,087 (GRCm39)	P9T	unknown	Het
Frmpd2	C	A	14: 33,222,920 (GRCm39)	H105N	possibly damaging	Het
Gal3st3	C	A	19: 5,357,434 (GRCm39)	R270S	probably damaging	Het
Galnt13	A	G	2: 54,747,829 (GRCm39)	I237V	probably damaging	Het
Gata5	G	T	2: 179,975,790 (GRCm39)	Q125K	possibly damaging	Het
Gm10036	T	A	18: 15,966,346 (GRCm39)	F166I	possibly damaging	Het
Gon4l	A	G	3: 88,802,413 (GRCm39)	N1008S	probably benign	Het
Got1l1	G	A	8: 27,687,962 (GRCm39)	L356F	probably damaging	Het
Gse1	A	G	8: 121,299,634 (GRCm39)	E888G	unknown	Het
Hmx1	C	A	5: 35,549,583 (GRCm39)	P292Q	possibly damaging	Het
Igkv7-33	A	T	6: 70,036,138 (GRCm39)	S16T	probably benign	Het
Itga2b	C	T	11: 102,352,582 (GRCm39)	G424D	probably damaging	Het
Itga6	A	T	2: 71,673,577 (GRCm39)	K870N	probably benign	Het
Lama4	A	T	10: 38,968,184 (GRCm39)	Q1442L	probably benign	Het
Lamc1	C	T	1: 153,124,806 (GRCm39)	R655H	probably damaging	Het
Lclat1	C	T	17: 73,468,931 (GRCm39)	S37L	probably benign	Het
Lrp1b	A	G	2: 41,013,609 (GRCm39)		probably null	Het
Map3k20	T	C	2: 72,232,348 (GRCm39)	S335P	probably benign	Het
Micu3	A	G	8: 40,819,275 (GRCm39)	D318G	possibly damaging	Het
Mmp16	T	C	4: 18,054,382 (GRCm39)	I296T	probably benign	Het
Mmp20	A	T	9: 7,639,335 (GRCm39)	I168L	probably benign	Het
Mpp3	T	C	11: 101,916,209 (GRCm39)	K48E	probably damaging	Het
Muc5ac	A	T	7: 141,359,413 (GRCm39)	D1291V	probably damaging	Het
Muc5ac	A	T	7: 141,359,490 (GRCm39)	T1317S	possibly damaging	Het
Myl10	A	T	5: 136,729,718 (GRCm39)	M119L	probably benign	Het
Myo5b	T	A	18: 74,713,467 (GRCm39)	V104E	probably damaging	Het
Nek10	G	A	14: 14,850,932 (GRCm38)	V326M	probably benign	Het
Or11l3	T	A	11: 58,515,990 (GRCm39)	E107D	unknown	Het
Or6c2	A	T	10: 129,362,551 (GRCm39)	M152L	probably benign	Het
Or6z1	G	A	7: 6,504,581 (GRCm39)	L221F	probably benign	Het
Pcnx1	A	G	12: 81,965,899 (GRCm39)	T161A		Het
Peg10	T	C	6: 4,754,938 (GRCm39)	S240P	probably damaging	Het
Pex6	G	A	17: 47,034,943 (GRCm39)	V822M	probably damaging	Het
Pla2r1	T	A	2: 60,365,106 (GRCm39)	T155S	probably benign	Het
Pld5	A	T	1: 175,821,416 (GRCm39)		probably null	Het
Plxna4	A	G	6: 32,473,676 (GRCm39)	V447A	probably damaging	Het
Pou2af1	T	C	9: 51,144,283 (GRCm39)	S66P	probably benign	Het
Pramel26	T	C	4: 143,536,987 (GRCm39)	E448G	probably damaging	Het
Prl2c2	T	C	13: 13,171,928 (GRCm39)	D147G	probably damaging	Het
Prune1	A	G	3: 95,162,596 (GRCm39)	L359P	probably damaging	Het
Rab4b	A	T	7: 26,875,642 (GRCm39)	V13E	probably damaging	Het
Rbbp6	T	G	7: 122,575,231 (GRCm39)	V80G	possibly damaging	Het
Reep5	C	T	18: 34,482,853 (GRCm39)	G119S	possibly damaging	Het
Rem1	G	C	2: 152,476,585 (GRCm39)	R281P	probably damaging	Het
Rnf215	C	T	11: 4,089,989 (GRCm39)	R309C	probably damaging	Het
Scn4a	C	A	11: 106,215,458 (GRCm39)	V1173F	probably damaging	Het
Serpine3	A	T	14: 62,910,464 (GRCm39)	I186F	possibly damaging	Het
Slc7a1	A	G	5: 148,289,046 (GRCm39)	V67A	probably damaging	Het
Smco2	A	T	6: 146,761,507 (GRCm39)	E142V	possibly damaging	Het
Spata25	G	A	2: 164,669,889 (GRCm39)	P41S	probably benign	Het
Specc1l	A	G	10: 75,112,638 (GRCm39)	D955G	probably damaging	Het
Spns3	C	T	11: 72,429,860 (GRCm39)		probably null	Het
Sptbn2	C	T	19: 4,794,235 (GRCm39)	R1480C	probably damaging	Het
Taf1a	T	C	1: 183,189,253 (GRCm39)		probably null	Het
Tas2r107	G	T	6: 131,636,563 (GRCm39)	T162K	possibly damaging	Het
Tcea1	T	C	1: 4,959,774 (GRCm39)	S139P	probably benign	Het
Tecta	C	T	9: 42,242,283 (GRCm39)	V2102I	probably benign	Het
Tmem131	A	T	1: 36,911,629 (GRCm39)	I106K	probably damaging	Het
Tpbpb	A	G	13: 61,049,925 (GRCm39)	V68A	probably benign	Het
Ttc27	A	T	17: 75,025,710 (GRCm39)	N61I	probably benign	Het
Ttn	T	C	2: 76,580,021 (GRCm39)	N23624S	probably damaging	Het
Tut7	T	C	13: 59,947,904 (GRCm39)	K806E	probably benign	Het
Usp2	T	C	9: 43,978,519 (GRCm39)		probably null	Het
Vmn1r10	A	G	6: 57,091,026 (GRCm39)	H206R	probably benign	Het
Vmn1r234	T	C	17: 21,449,479 (GRCm39)	I131T	probably damaging	Het
Vwf	G	T	6: 125,659,697 (GRCm39)	R2632L		Het
Zfp143	T	C	7: 109,688,025 (GRCm39)	V489A	probably benign	Het
Zfp383	G	A	7: 29,614,696 (GRCm39)	R317Q	probably damaging	Het
Zswim8	A	G	14: 20,766,368 (GRCm39)	T839A	probably damaging	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
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
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'- CTCAGAGGTGAATGCATTTCTCC -3'
(R):5'- CTTAAAACAAAACTAGCGTAGGGTG -3'

Sequencing Primer
(F):5'- GAGGTGAATGCATTTCTCCCAAAC -3'
(R):5'- AACTAGCGTAGGGTGGTTTG -3'

Posted On

2019-10-24