Mutagenetix > Incidental Mutation

Incidental Mutation 'R4721:Wdr37'

354487

Institutional Source

Beutler Lab

Gene Symbol

Wdr37

Ensembl Gene

ENSMUSG00000021147

Gene Name

WD repeat domain 37

Synonyms

4933417A01Rik, 3110035P10Rik

MMRRC Submission

041986-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4721 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8853004-8921945 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8904065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 101 (E101G)

Ref Sequence

ENSEMBL: ENSMUSP00000135742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021572] [ENSMUST00000054251] [ENSMUST00000164183] [ENSMUST00000175958] [ENSMUST00000176098] [ENSMUST00000176329] [ENSMUST00000176922] [ENSMUST00000176587] [ENSMUST00000176813] [ENSMUST00000176715]

AlphaFold

Q8CBE3

Predicted Effect

probably benign
Transcript: ENSMUST00000021572
AA Change: E101G

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000021572
Gene: ENSMUSG00000021147
AA Change: E101G

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: ENSMUST00000054251
AA Change: E101G

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000062174
Gene: ENSMUSG00000021147
AA Change: E101G

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

possibly damaging
Transcript: ENSMUST00000164183
AA Change: E101G

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131469
Gene: ENSMUSG00000021147
AA Change: E101G

Domain	Start	End	E-Value	Type
coiled coil region	63	101	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175687

Predicted Effect

probably benign
Transcript: ENSMUST00000175958

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

possibly damaging
Transcript: ENSMUST00000176329
AA Change: E56G

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135101
Gene: ENSMUSG00000021147
AA Change: E56G

Domain	Start	End	E-Value	Type
WD40	100	140	9.75e-3	SMART
WD40	143	182	4.27e-8	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176922
AA Change: E101G

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135742
Gene: ENSMUSG00000021147
AA Change: E101G

Domain	Start	End	E-Value	Type
coiled coil region	63	101	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177112

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176587
AA Change: E100G

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135271
Gene: ENSMUSG00000021147
AA Change: E100G

Domain	Start	End	E-Value	Type
coiled coil region	62	100	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176813
AA Change: E101G

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000135097
Gene: ENSMUSG00000021147
AA Change: E101G

Domain	Start	End	E-Value	Type
coiled coil region	63	101	N/A	INTRINSIC
SCOP:d1ijqa1	128	180	3e-4	SMART
Blast:WD40	145	180	5e-19	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000176715

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

Meta Mutation Damage Score

0.0707

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (90/92)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,385,107 (GRCm39)	D286G	probably benign	Het
Abca15	G	A	7: 119,949,998 (GRCm39)	E491K	probably benign	Het
Acsl5	A	G	19: 55,268,962 (GRCm39)	T208A	probably benign	Het
Adamts10	T	A	17: 33,764,511 (GRCm39)		probably null	Het
Ahcyl1	T	C	3: 107,577,233 (GRCm39)	Q313R	possibly damaging	Het
Ccdc71	C	T	9: 108,340,622 (GRCm39)	S145L	possibly damaging	Het
Cep250	A	G	2: 155,812,119 (GRCm39)	T472A	probably damaging	Het
Copa	T	C	1: 171,931,841 (GRCm39)		probably benign	Het
Crybg1	C	A	10: 43,873,883 (GRCm39)	R1075L	probably damaging	Het
Ddr2	T	A	1: 169,832,809 (GRCm39)	K84*	probably null	Het
Ddx59	C	T	1: 136,344,844 (GRCm39)	P172S	probably benign	Het
Dhx34	T	A	7: 15,931,307 (GRCm39)	Q1118L	possibly damaging	Het
Dkkl1	T	A	7: 44,857,232 (GRCm39)	I112F	probably damaging	Het
Dnah8	T	A	17: 30,944,140 (GRCm39)	C1786S	probably damaging	Het
Eml6	T	A	11: 29,788,525 (GRCm39)	D520V	possibly damaging	Het
Ergic1	T	A	17: 26,857,750 (GRCm39)	V192E	probably damaging	Het
Fat3	T	C	9: 15,941,262 (GRCm39)	E1343G	probably damaging	Het
Fxr1	T	C	3: 34,118,381 (GRCm39)	S535P	possibly damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm15446	C	T	5: 110,090,866 (GRCm39)	H373Y	probably damaging	Het
Gpr157	A	T	4: 150,183,420 (GRCm39)	N197Y	probably benign	Het
Grid2	G	A	6: 64,643,185 (GRCm39)	M982I	probably benign	Het
Hey2	G	T	10: 30,710,304 (GRCm39)	R150S	possibly damaging	Het
Hmcn1	T	C	1: 150,648,322 (GRCm39)		probably null	Het
Ighv3-3	G	A	12: 114,160,156 (GRCm39)	R85*	probably null	Het
Ighv5-4	A	T	12: 113,561,060 (GRCm39)		probably benign	Het
Igsf21	A	G	4: 139,834,621 (GRCm39)	S84P	probably benign	Het
Kif20b	A	G	19: 34,915,773 (GRCm39)	T517A	probably benign	Het
Krt87	T	C	15: 101,385,863 (GRCm39)	E244G	probably damaging	Het
Lrp1	T	C	10: 127,390,928 (GRCm39)	T2990A	possibly damaging	Het
Lrp1b	T	A	2: 40,605,381 (GRCm39)		probably null	Het
Lrrc42	A	T	4: 107,091,050 (GRCm39)	S382T	probably benign	Het
Magi2	C	T	5: 20,739,467 (GRCm39)	R737W	probably damaging	Het
Mcc	A	G	18: 44,652,623 (GRCm39)	L267P	probably damaging	Het
Mzf1	T	A	7: 12,777,223 (GRCm39)	Q727L	possibly damaging	Het
Mzf1	C	T	7: 12,777,448 (GRCm39)	R652Q	possibly damaging	Het
Nkain3	C	T	4: 20,485,015 (GRCm39)	A21T	probably damaging	Het
Nlrp4e	T	A	7: 23,020,521 (GRCm39)	V336E	possibly damaging	Het
Nptn	C	T	9: 58,548,059 (GRCm39)	R155C	probably damaging	Het
Nr2c2	T	C	6: 92,116,828 (GRCm39)	I10T	possibly damaging	Het
Or12e13	T	A	2: 87,663,515 (GRCm39)	I44N	probably damaging	Het
Or1e26	C	T	11: 73,480,273 (GRCm39)	C97Y	probably damaging	Het
Or1j13	T	C	2: 36,369,836 (GRCm39)	Y102C	probably benign	Het
Pdzk1	G	T	3: 96,776,518 (GRCm39)	E493*	probably null	Het
Plekhh1	GTCAAA	G	12: 79,122,194 (GRCm39)		probably null	Het
Polr3b	T	C	10: 84,491,867 (GRCm39)	V342A	possibly damaging	Het
Prg3	T	C	2: 84,821,750 (GRCm39)	V125A	possibly damaging	Het
Raph1	G	A	1: 60,542,160 (GRCm39)		probably benign	Het
Rassf2	A	G	2: 131,846,358 (GRCm39)	V133A	probably benign	Het
Rbm22	G	A	18: 60,697,463 (GRCm39)	R56H	probably damaging	Het
Rbpjl	A	C	2: 164,246,447 (GRCm39)	S31R	probably benign	Het
Reln	A	G	5: 22,124,220 (GRCm39)	V2762A	probably damaging	Het
Rxrg	T	A	1: 167,452,621 (GRCm39)	I141N	probably damaging	Het
Scn7a	C	A	2: 66,514,529 (GRCm39)	G1082C	probably damaging	Het
Selenon	C	A	4: 134,270,387 (GRCm39)	E322*	probably null	Het
Sipa1	C	T	19: 5,710,413 (GRCm39)	R199Q	probably damaging	Het
Slc26a7	A	T	4: 14,510,261 (GRCm39)		probably null	Het
Slc37a4	T	C	9: 44,312,787 (GRCm39)	S314P	possibly damaging	Het
Smarce1	T	C	11: 99,111,543 (GRCm39)	I59V	probably benign	Het
Stk19	T	C	17: 35,042,120 (GRCm39)		probably null	Het
Susd2	C	T	10: 75,473,964 (GRCm39)	D544N	probably benign	Het
Tcf7l2	G	T	19: 55,919,886 (GRCm39)	R465L	possibly damaging	Het
Tfap2d	T	A	1: 19,174,984 (GRCm39)	S146T	possibly damaging	Het
Tmem156	A	G	5: 65,248,870 (GRCm39)	F10S	probably benign	Het
Tmem63c	G	T	12: 87,103,954 (GRCm39)	A68S	possibly damaging	Het
Tnfrsf21	T	C	17: 43,396,395 (GRCm39)	C560R	probably damaging	Het
Trav10n	C	T	14: 53,359,590 (GRCm39)	T7I	probably benign	Het
Ttc38	C	T	15: 85,722,947 (GRCm39)	R132W	probably benign	Het
Tvp23a	T	C	16: 10,245,275 (GRCm39)	K108R	probably benign	Het
Vmn1r233	T	C	17: 21,214,879 (GRCm39)	M24V	probably benign	Het
Vmn1r88	T	A	7: 12,912,451 (GRCm39)	L269*	probably null	Het
Vmn2r101	T	A	17: 19,832,287 (GRCm39)	M761K	probably damaging	Het
Vps13b	C	T	15: 35,910,864 (GRCm39)	Q3543*	probably null	Het
Zc3hc1	A	G	6: 30,374,899 (GRCm39)	V214A	probably benign	Het
Zcchc9	A	T	13: 91,948,728 (GRCm39)		probably null	Het
Zdbf2	A	T	1: 63,347,951 (GRCm39)	Q2110L	possibly damaging	Het
Zfp516	T	G	18: 82,975,236 (GRCm39)	L478R	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
R1868:Wdr37	UTSW	13	8,886,887 (GRCm39)	missense	probably damaging	1.00
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
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'- TGCAGCTGTGTCTTAGGAAG -3'
(R):5'- GGCTTGGGAAGTATAAATTATCACC -3'

Sequencing Primer
(F):5'- CAGCACTAACAGGGAGCCATTTC -3'
(R):5'- TCTTGACAGTCCCGATTC -3'

Posted On

2015-10-21