Mutagenetix > Incidental Mutations

Incidental Mutation 'R5080:Wdr37'

387092

Institutional Source

Beutler Lab

Gene Symbol

Wdr37

Ensembl Gene

ENSMUSG00000021147

Gene Name

WD repeat domain 37

Synonyms

3110035P10Rik, 4933417A01Rik

MMRRC Submission

042669-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5080 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8802968-8871909 bp(-) (GRCm38)

Type of Mutation

unclassified (6 bp from exon)

DNA Base Change (assembly)

A to T at 8847674 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135097 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000021572
AA Change: L182*

SMART Domains

Protein: ENSMUSP00000021572
Gene: ENSMUSG00000021147
AA Change: L182*

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 null
Transcript: ENSMUST00000054251
AA Change: L182*

SMART Domains

Protein: ENSMUSP00000062174
Gene: ENSMUSG00000021147
AA Change: L182*

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: ENSMUST00000164183

SMART Domains

Protein: ENSMUSP00000131469
Gene: ENSMUSG00000021147

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

Predicted Effect

probably null
Transcript: ENSMUST00000176098
AA Change: L13*

SMART Domains

Protein: ENSMUSP00000135094
Gene: ENSMUSG00000021147
AA Change: L13*

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

Predicted Effect

probably null
Transcript: ENSMUST00000176329
AA Change: L137*

SMART Domains

Protein: ENSMUSP00000135101
Gene: ENSMUSG00000021147
AA Change: L137*

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

Predicted Effect

probably null
Transcript: ENSMUST00000176429
AA Change: L62*

SMART Domains

Protein: ENSMUSP00000134916
Gene: ENSMUSG00000021147
AA Change: L62*

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

probably benign
Transcript: ENSMUST00000176587

SMART Domains

Protein: ENSMUSP00000135271
Gene: ENSMUSG00000021147

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176715

Predicted Effect

probably null
Transcript: ENSMUST00000176813

SMART Domains

Protein: ENSMUSP00000135097
Gene: ENSMUSG00000021147

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 null
Transcript: ENSMUST00000176813

SMART Domains

Protein: ENSMUSP00000135097
Gene: ENSMUSG00000021147

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: ENSMUST00000176922

SMART Domains

Protein: ENSMUSP00000135742
Gene: ENSMUSG00000021147

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

Predicted Effect

probably benign
Transcript: ENSMUST00000177537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221401

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 92.5%

Validation Efficiency

96% (54/56)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	G	A	14: 103,049,308	G16S	possibly damaging	Het
Adcy4	A	T	14: 55,772,375	M740K	probably damaging	Het
Atp1a2	T	C	1: 172,284,445		probably benign	Het
Atrn	T	A	2: 130,970,124	I663N	possibly damaging	Het
Cacna2d1	T	C	5: 16,362,396		probably null	Het
Carf	C	A	1: 60,150,613	Q631K	probably damaging	Het
Ces1d	T	C	8: 93,181,547	D306G	probably benign	Het
Corin	T	A	5: 72,353,851		probably benign	Het
Csf1r	T	C	18: 61,124,301	F575L	probably damaging	Het
Dcaf6	T	C	1: 165,420,121	D181G	probably damaging	Het
Dnah11	C	T	12: 118,198,830	M1I	probably null	Het
Dnah7b	C	T	1: 46,182,380	R1215*	probably null	Het
Dpp3	T	A	19: 4,915,080	D464V	probably benign	Het
Drosha	C	A	15: 12,842,143	A344D	probably benign	Het
Fam160b1	A	T	19: 57,373,281	K134I	probably damaging	Het
Fat3	G	T	9: 15,999,338	S1789R	probably benign	Het
Frg2f1	T	C	4: 119,531,033	T90A	possibly damaging	Het
Frrs1	T	C	3: 116,902,936	I544T	probably benign	Het
Gm10020	A	G	15: 52,478,050		noncoding transcript	Het
Gm20939	T	C	17: 94,876,991	C356R	probably damaging	Het
Ifi206	T	A	1: 173,473,848	I755F	possibly damaging	Het
Kntc1	T	A	5: 123,762,586	V249E	possibly damaging	Het
Lama5	A	T	2: 180,207,200	L230*	probably null	Het
Lce1e	C	T	3: 92,707,830	C70Y	unknown	Het
Ltbp2	T	C	12: 84,803,864	N892S	probably damaging	Het
Mfsd4b5	T	A	10: 39,970,574	M337L	probably damaging	Het
Noxo1	T	A	17: 24,699,357	C164S	probably damaging	Het
Olfr10	G	T	11: 49,318,087	M180I	probably benign	Het
Olfr1052	G	A	2: 86,297,914	V33M	probably benign	Het
Osbpl6	T	C	2: 76,524,085	S15P	probably benign	Het
Pcdh17	A	G	14: 84,533,310	Y1076C	probably benign	Het
Pik3c2a	T	A	7: 116,348,274	H1391L	probably damaging	Het
Plcg2	A	G	8: 117,590,003	Y573C	probably benign	Het
Prpf3	T	A	3: 95,833,797	H600L	probably benign	Het
Rilpl2	T	C	5: 124,469,813	T115A	probably benign	Het
Serpini1	T	C	3: 75,616,660	S192P	probably damaging	Het
Sp110	G	T	1: 85,596,055	Y18*	probably null	Het
Stard6	A	T	18: 70,496,222	I126F	probably damaging	Het
Strip2	T	A	6: 29,945,593	L660H	probably damaging	Het
Tmed3	G	A	9: 89,699,772	R213*	probably null	Het
Tns1	G	T	1: 73,952,940	P860T	probably damaging	Het
Togaram1	T	C	12: 64,983,403	S994P	probably benign	Het
Tomm34	G	A	2: 164,070,896		probably benign	Het
Trank1	G	A	9: 111,389,221	E1890K	probably damaging	Het
Wasf3	C	T	5: 146,461,097	H225Y	probably benign	Het
Zbtb7c	A	C	18: 76,137,342	D167A	probably benign	Het
Zkscan4	A	G	13: 21,481,328	T158A	probably benign	Het

Other mutations in Wdr37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Wdr37	APN	13	8820505	missense	probably damaging	1.00
IGL00753:Wdr37	APN	13	8861174	missense	probably damaging	1.00
IGL02479:Wdr37	APN	13	8842784	missense	probably damaging	1.00
profound	UTSW	13	8842728	critical splice donor site	probably null
radical	UTSW	13	8847674	unclassified	probably null
R0885:Wdr37	UTSW	13	8835252	intron	probably null
R1073:Wdr37	UTSW	13	8805840	missense	probably damaging	0.99
R1085:Wdr37	UTSW	13	8805928	missense	probably damaging	1.00
R1537:Wdr37	UTSW	13	8837003	missense	probably benign	0.01
R1538:Wdr37	UTSW	13	8836792	missense	probably benign
R1541:Wdr37	UTSW	13	8820538	missense	probably benign	0.26
R1868:Wdr37	UTSW	13	8836851	missense	probably damaging	1.00
R2240:Wdr37	UTSW	13	8861232	start gained	probably benign
R3815:Wdr37	UTSW	13	8853596	intron	probably benign
R3817:Wdr37	UTSW	13	8853596	intron	probably benign
R3818:Wdr37	UTSW	13	8853596	intron	probably benign
R3819:Wdr37	UTSW	13	8853596	intron	probably benign
R4721:Wdr37	UTSW	13	8854029	missense	possibly damaging	0.89
R6297:Wdr37	UTSW	13	8842728	critical splice donor site	probably null
R6761:Wdr37	UTSW	13	8849648	missense	probably benign	0.07
R7505:Wdr37	UTSW	13	8819935	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACTACCCTGTACCCTGAC -3'
(R):5'- CTTAGGTCGGGTGAATTGTACAAAG -3'

Sequencing Primer
(F):5'- CTGTACCCTGACTTACATCAAATG -3'
(R):5'- CTCAGTGGTTAGGAACACTGGC -3'

Posted On

2016-06-06