Mutagenetix > Incidental Mutation

Incidental Mutation 'R1868:Wdr37'

208986

Institutional Source

Beutler Lab

Gene Symbol

Wdr37

Ensembl Gene

ENSMUSG00000021147

Gene Name

WD repeat domain 37

Synonyms

4933417A01Rik, 3110035P10Rik

MMRRC Submission

039890-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1868 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8853004-8921945 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 8886887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 300 (T300K)

Ref Sequence

ENSEMBL: ENSMUSP00000062174 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021572] [ENSMUST00000054251] [ENSMUST00000176098]

AlphaFold

Q8CBE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000021572
AA Change: T300K

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

SMART Domains

Protein: ENSMUSP00000021572
Gene: ENSMUSG00000021147
AA Change: T300K

Domain	Start	End	E-Value	Type
coiled coil region	63	101	N/A	INTRINSIC
WD40	145	185	9.75e-3	SMART
WD40	188	227	4.27e-8	SMART
WD40	272	311	1.06e-3	SMART
WD40	314	353	4.91e-8	SMART
WD40	358	396	2.38e-6	SMART
Blast:WD40	400	438	8e-17	BLAST
WD40	445	486	6.19e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000054251
AA Change: T300K

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

SMART Domains

Protein: ENSMUSP00000062174
Gene: ENSMUSG00000021147
AA Change: T300K

Domain	Start	End	E-Value	Type
coiled coil region	63	101	N/A	INTRINSIC
WD40	145	185	9.75e-3	SMART
WD40	188	227	4.27e-8	SMART
WD40	272	311	1.06e-3	SMART
WD40	314	353	4.91e-8	SMART
WD40	358	396	2.38e-6	SMART
Blast:WD40	400	438	8e-17	BLAST
WD40	445	486	6.19e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176098

SMART Domains

Protein: ENSMUSP00000135094
Gene: ENSMUSG00000021147

Domain	Start	End	E-Value	Type
WD40	19	58	4.27e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176429

SMART Domains

Protein: ENSMUSP00000134916
Gene: ENSMUSG00000021147

Domain	Start	End	E-Value	Type
WD40	26	66	9.75e-3	SMART
WD40	69	113	3.81e-5	SMART
WD40	118	156	2.38e-6	SMART
Blast:WD40	160	193	2e-14	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177409

Predicted Effect

probably benign
Transcript: ENSMUST00000177537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220930

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

97% (115/118)

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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	T	5: 66,157,560 (GRCm39)	M1K	probably null	Het
A630073D07Rik	C	T	6: 132,603,457 (GRCm39)	E100K	unknown	Het
Abcc3	T	G	11: 94,254,889 (GRCm39)	D638A	probably benign	Het
Acadm	T	C	3: 153,635,889 (GRCm39)	I272V	probably benign	Het
Adam2	G	A	14: 66,315,107 (GRCm39)	T22I	probably damaging	Het
Aldh3b1	G	A	19: 3,971,271 (GRCm39)		probably benign	Het
Arfgef3	A	T	10: 18,537,135 (GRCm39)	I182K	probably benign	Het
Arhgef17	A	G	7: 100,528,184 (GRCm39)	S677P	probably benign	Het
Atp2b1	T	C	10: 98,832,750 (GRCm39)	V417A	probably damaging	Het
Brca1	T	A	11: 101,388,839 (GRCm39)	H1675L	probably benign	Het
Brd10	A	T	19: 29,720,998 (GRCm39)	S743T	probably damaging	Het
Btd	G	T	14: 31,389,266 (GRCm39)	G329V	probably benign	Het
Capsl	T	A	15: 9,461,916 (GRCm39)	L104*	probably null	Het
Cbx1	T	C	11: 96,693,554 (GRCm39)	S107P	probably benign	Het
Cd207	G	T	6: 83,648,683 (GRCm39)	Y326*	probably null	Het
Cenpp	T	C	13: 49,794,759 (GRCm39)	D136G	probably damaging	Het
Chsy3	A	G	18: 59,309,560 (GRCm39)		probably null	Het
Cntrl	T	A	2: 35,019,827 (GRCm39)	H551Q	probably benign	Het
Col14a1	T	A	15: 55,310,858 (GRCm39)		probably benign	Het
Cybrd1	T	A	2: 70,967,978 (GRCm39)	F183Y	possibly damaging	Het
D5Ertd579e	G	A	5: 36,773,771 (GRCm39)	S208L	probably damaging	Het
Dlg2	A	T	7: 92,036,160 (GRCm39)	K719*	probably null	Het
Dppa1	A	T	11: 46,516,393 (GRCm39)		probably null	Het
Dse	A	G	10: 34,029,284 (GRCm39)	V602A	possibly damaging	Het
Elapor2	T	A	5: 9,529,251 (GRCm39)	I1028K	probably damaging	Het
Elmo1	C	T	13: 20,773,823 (GRCm39)	A611V	possibly damaging	Het
Ets2	T	C	16: 95,516,118 (GRCm39)	S233P	probably benign	Het
Fchsd2	G	A	7: 100,899,645 (GRCm39)		probably benign	Het
Fhip2a	T	C	19: 57,374,737 (GRCm39)	I704T	possibly damaging	Het
Fkbp4	T	C	6: 128,409,453 (GRCm39)	R402G	probably benign	Het
G2e3	T	A	12: 51,400,412 (GRCm39)	D21E	probably benign	Het
Gask1a	A	G	9: 121,794,493 (GRCm39)	T216A	possibly damaging	Het
Gck	A	T	11: 5,852,165 (GRCm39)	N391K	probably damaging	Het
Gm11077	T	A	6: 140,675,017 (GRCm39)	I3N	unknown	Het
Gm6793	T	C	8: 112,741,088 (GRCm39)	M185V	probably benign	Het
Gucy2d	T	A	7: 98,103,268 (GRCm39)	L504H	probably damaging	Het
Hat1	T	A	2: 71,251,627 (GRCm39)	Y225*	probably null	Het
Iars2	A	T	1: 185,050,765 (GRCm39)	D441E	probably benign	Het
Ido2	C	A	8: 25,043,776 (GRCm39)	M92I	possibly damaging	Het
Ifne	T	C	4: 88,797,908 (GRCm39)	E170G	probably damaging	Het
Ints8	C	A	4: 11,241,684 (GRCm39)	C253F	probably damaging	Het
Intu	G	T	3: 40,618,765 (GRCm39)	G257V	probably damaging	Het
Jakmip3	A	G	7: 138,609,316 (GRCm39)	K140R	probably benign	Het
Kcnip3	T	C	2: 127,301,263 (GRCm39)	E237G	probably damaging	Het
Ksr2	A	C	5: 117,643,594 (GRCm39)	E121A	probably benign	Het
Lars1	T	A	18: 42,347,902 (GRCm39)	I974F	probably benign	Het
Lce1b	A	G	3: 92,563,318 (GRCm39)	S72P	unknown	Het
Lhfpl4	T	A	6: 113,153,394 (GRCm39)	D125V	probably benign	Het
Luc7l	G	A	17: 26,499,030 (GRCm39)		probably benign	Het
Mei1	T	C	15: 82,009,154 (GRCm39)	L833P	probably damaging	Het
Mier2	A	G	10: 79,384,664 (GRCm39)	V150A	probably damaging	Het
Muc4	C	T	16: 32,576,715 (GRCm39)	R2072C	unknown	Het
Myh3	A	G	11: 66,975,852 (GRCm39)	K295E	probably benign	Het
Ndufaf5	A	G	2: 140,023,509 (GRCm39)	I115V	probably benign	Het
Neb	T	C	2: 52,216,756 (GRCm39)	K140E	probably damaging	Het
Niban1	A	G	1: 151,517,302 (GRCm39)	S104G	possibly damaging	Het
Npas2	A	G	1: 39,339,759 (GRCm39)	D103G	probably benign	Het
Ntrk3	A	T	7: 77,842,352 (GRCm39)	H825Q	possibly damaging	Het
Nup62	T	A	7: 44,478,472 (GRCm39)	S162R	possibly damaging	Het
Or4c108	T	C	2: 88,804,128 (GRCm39)	T36A	possibly damaging	Het
Or5g23	T	A	2: 85,438,409 (GRCm39)	I282F	probably damaging	Het
Or5t7	G	A	2: 86,507,629 (GRCm39)	T16I	possibly damaging	Het
Or8c8	A	G	9: 38,164,986 (GRCm39)	E91G	probably damaging	Het
Orc4	A	G	2: 48,800,305 (GRCm39)	M281T	probably benign	Het
Osbpl5	C	A	7: 143,269,510 (GRCm39)	R22L	probably damaging	Het
Otos	A	G	1: 92,572,185 (GRCm39)	F47S	probably damaging	Het
Parp11	A	G	6: 127,447,740 (GRCm39)	T25A	probably damaging	Het
Pcdhb9	A	C	18: 37,535,137 (GRCm39)	D377A	probably damaging	Het
Pdgfra	C	T	5: 75,331,534 (GRCm39)	S348L	probably benign	Het
Pdlim5	C	A	3: 142,012,060 (GRCm39)		probably null	Het
Peg12	T	C	7: 62,113,416 (GRCm39)	H227R	probably benign	Het
Piezo2	T	C	18: 63,152,415 (GRCm39)	E2559G	probably damaging	Het
Pnisr	C	T	4: 21,874,086 (GRCm39)		probably benign	Het
Ppa2	A	T	3: 133,053,858 (GRCm39)	I183F	probably damaging	Het
Pramel48	T	A	5: 95,630,758 (GRCm39)	Y212N	probably benign	Het
Prl2a1	T	C	13: 27,988,923 (GRCm39)	L16P	probably damaging	Het
Rai14	C	A	15: 10,633,314 (GRCm39)	Q25H	probably damaging	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Rbm34	C	A	8: 127,697,631 (GRCm39)	A27S	probably benign	Het
Rchy1	T	C	5: 92,099,762 (GRCm39)	D192G	probably damaging	Het
Rexo1	T	C	10: 80,378,754 (GRCm39)	D1094G	probably damaging	Het
Rtl1	T	A	12: 109,556,970 (GRCm39)	D1623V	probably damaging	Het
Ryr2	C	T	13: 11,746,586 (GRCm39)	E1989K	probably benign	Het
Sema6c	A	G	3: 95,078,124 (GRCm39)	E500G	probably damaging	Het
Slc13a1	T	A	6: 24,117,999 (GRCm39)	Y246F	probably damaging	Het
Slc39a9	C	T	12: 80,726,297 (GRCm39)	L249F	probably damaging	Het
Slc6a21	C	T	7: 44,937,252 (GRCm39)	P261S	probably benign	Het
Slco2b1	C	T	7: 99,335,243 (GRCm39)	C179Y	probably damaging	Het
Sox6	T	C	7: 115,258,773 (GRCm39)	N252S	possibly damaging	Het
Spr-ps1	C	T	6: 85,132,885 (GRCm39)		noncoding transcript	Het
Sptbn1	C	A	11: 30,064,781 (GRCm39)	R1906L	possibly damaging	Het
Stac2	T	C	11: 97,943,771 (GRCm39)	D13G	probably benign	Het
Stat5a	G	T	11: 100,764,955 (GRCm39)	R226L	probably damaging	Het
Suz12	A	G	11: 79,904,425 (GRCm39)		probably null	Het
Tas2r144	C	A	6: 42,192,936 (GRCm39)	H225Q	probably benign	Het
Tdo2	T	A	3: 81,867,853 (GRCm39)	M331L	probably benign	Het
Tesk1	T	C	4: 43,447,201 (GRCm39)	W530R	probably damaging	Het
Tlr6	T	C	5: 65,112,172 (GRCm39)	N245S	probably benign	Het
Tnfrsf11a	G	T	1: 105,772,431 (GRCm39)	A573S	probably damaging	Het
Tpbpb	A	T	13: 61,050,344 (GRCm39)		probably benign	Het
Trim24	T	A	6: 37,928,447 (GRCm39)	S590T	probably damaging	Het
Ttll3	G	T	6: 113,369,725 (GRCm39)	A90S	possibly damaging	Het
Ubr5	A	T	15: 38,042,090 (GRCm39)	S169T	probably benign	Het
Usp28	T	C	9: 48,928,007 (GRCm39)	V363A	probably damaging	Het
Vcan	A	G	13: 89,838,990 (GRCm39)	S2185P	probably benign	Het
Vmn1r211	T	C	13: 23,035,779 (GRCm39)	H296R	probably benign	Het
Vmn2r3	G	A	3: 64,166,537 (GRCm39)	P865S	probably damaging	Het
Wapl	A	G	14: 34,414,415 (GRCm39)	T426A	probably benign	Het
Wrap53	A	T	11: 69,452,990 (GRCm39)	V439E	probably null	Het
Wrn	A	G	8: 33,747,249 (GRCm39)	S868P	probably benign	Het
Zfhx4	A	G	3: 5,477,774 (GRCm39)	E3463G	probably damaging	Het
Zfp189	T	A	4: 49,529,283 (GRCm39)	C129S	possibly damaging	Het
Zfp442	T	C	2: 150,250,100 (GRCm39)	K544E	probably damaging	Het
Zfp939	T	A	7: 39,122,728 (GRCm39)		noncoding transcript	Het
Zfyve26	T	C	12: 79,308,573 (GRCm39)	H228R	possibly damaging	Het

Other mutations in Wdr37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Wdr37	APN	13	8,870,541 (GRCm39)	missense	probably damaging	1.00
IGL00753:Wdr37	APN	13	8,911,210 (GRCm39)	missense	probably damaging	1.00
IGL02479:Wdr37	APN	13	8,892,820 (GRCm39)	missense	probably damaging	1.00
profound	UTSW	13	8,892,764 (GRCm39)	critical splice donor site	probably null
radical	UTSW	13	8,897,710 (GRCm39)	splice site	probably null
R0885:Wdr37	UTSW	13	8,885,288 (GRCm39)	splice site	probably null
R1073:Wdr37	UTSW	13	8,855,876 (GRCm39)	missense	probably damaging	0.99
R1085:Wdr37	UTSW	13	8,855,964 (GRCm39)	missense	probably damaging	1.00
R1537:Wdr37	UTSW	13	8,887,039 (GRCm39)	missense	probably benign	0.01
R1538:Wdr37	UTSW	13	8,886,828 (GRCm39)	missense	probably benign
R1541:Wdr37	UTSW	13	8,870,574 (GRCm39)	missense	probably benign	0.26
R2240:Wdr37	UTSW	13	8,911,268 (GRCm39)	start gained	probably benign
R3815:Wdr37	UTSW	13	8,903,632 (GRCm39)	intron	probably benign
R3817:Wdr37	UTSW	13	8,903,632 (GRCm39)	intron	probably benign
R3818:Wdr37	UTSW	13	8,903,632 (GRCm39)	intron	probably benign
R3819:Wdr37	UTSW	13	8,903,632 (GRCm39)	intron	probably benign
R4721:Wdr37	UTSW	13	8,904,065 (GRCm39)	missense	possibly damaging	0.89
R5080:Wdr37	UTSW	13	8,897,710 (GRCm39)	splice site	probably null
R6297:Wdr37	UTSW	13	8,892,764 (GRCm39)	critical splice donor site	probably null
R6761:Wdr37	UTSW	13	8,899,684 (GRCm39)	missense	probably benign	0.07
R7505:Wdr37	UTSW	13	8,869,971 (GRCm39)	missense	probably damaging	1.00
R7840:Wdr37	UTSW	13	8,886,911 (GRCm39)	missense	probably damaging	0.96
R7873:Wdr37	UTSW	13	8,855,969 (GRCm39)	missense	probably damaging	0.99
R8081:Wdr37	UTSW	13	8,885,406 (GRCm39)	missense	probably damaging	1.00
R8311:Wdr37	UTSW	13	8,903,609 (GRCm39)	missense	unknown
R9030:Wdr37	UTSW	13	8,885,424 (GRCm39)	missense	probably damaging	1.00
R9452:Wdr37	UTSW	13	8,897,663 (GRCm39)	missense
R9736:Wdr37	UTSW	13	8,911,136 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCTACAGTTAATTTCCTGAGGG -3'
(R):5'- ACCCTTAGCAACAAATTTCTGGTG -3'

Sequencing Primer
(F):5'- ATGGCAACCTCAGAGTCAAG -3'
(R):5'- GCAACAAATTTCTGGTGAAGATG -3'

Posted On

2014-06-30