Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00753:Wdr37'

14837

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr37

Ensembl Gene

ENSMUSG00000021147

Gene Name

WD repeat domain 37

Synonyms

4933417A01Rik, 3110035P10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00753

Quality Score

Status

Chromosome

Chromosomal Location

8853004-8921945 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 8911210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 18 (R18C)

Ref Sequence

ENSEMBL: ENSMUSP00000135742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021572] [ENSMUST00000054251] [ENSMUST00000164183] [ENSMUST00000175958] [ENSMUST00000176329] [ENSMUST00000176587] [ENSMUST00000176715] [ENSMUST00000177404] [ENSMUST00000176813] [ENSMUST00000176922]

AlphaFold

Q8CBE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000021572
AA Change: R18C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021572
Gene: ENSMUSG00000021147
AA Change: R18C

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: R18C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000062174
Gene: ENSMUSG00000021147
AA Change: R18C

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: ENSMUST00000164183
AA Change: R18C

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

SMART Domains

Protein: ENSMUSP00000131469
Gene: ENSMUSG00000021147
AA Change: R18C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175687

Predicted Effect

probably damaging
Transcript: ENSMUST00000175958
AA Change: R18C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000176329

SMART Domains

Protein: ENSMUSP00000135101
Gene: ENSMUSG00000021147

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000176587
AA Change: R17C

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

SMART Domains

Protein: ENSMUSP00000135271
Gene: ENSMUSG00000021147
AA Change: R17C

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176715
AA Change: R18C

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000177404
AA Change: R18C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000176813
AA Change: R18C

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

SMART Domains

Protein: ENSMUSP00000135097
Gene: ENSMUSG00000021147
AA Change: R18C

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 damaging
Transcript: ENSMUST00000176922
AA Change: R18C

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

SMART Domains

Protein: ENSMUSP00000135742
Gene: ENSMUSG00000021147
AA Change: R18C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177112

Coding Region Coverage

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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad5	C	A	11: 80,023,684 (GRCm39)	Q1596K	probably benign	Het
Bcl9l	C	A	9: 44,416,924 (GRCm39)	T254K	possibly damaging	Het
Cgas	G	A	9: 78,342,770 (GRCm39)	P344L	probably damaging	Het
Csmd3	A	G	15: 47,507,631 (GRCm39)	Y2961H	probably damaging	Het
Dop1b	A	G	16: 93,566,512 (GRCm39)	T980A	probably benign	Het
Gdpd3	C	A	7: 126,366,598 (GRCm39)	Y118*	probably null	Het
Ift140	T	A	17: 25,274,618 (GRCm39)	F763L	probably damaging	Het
Igfn1	G	T	1: 135,894,464 (GRCm39)	P2034H	probably damaging	Het
Msantd2	T	C	9: 37,434,845 (GRCm39)		probably benign	Het
Myo18a	T	C	11: 77,715,977 (GRCm39)	S864P	probably damaging	Het
Plbd1	A	C	6: 136,611,468 (GRCm39)	Y270D	probably benign	Het
Plcl1	T	C	1: 55,735,897 (GRCm39)	S413P	probably damaging	Het
Scn2a	A	G	2: 65,514,207 (GRCm39)	N297S	possibly damaging	Het
Tbc1d17	T	C	7: 44,492,509 (GRCm39)	T385A	probably benign	Het
Thsd7a	C	T	6: 12,327,528 (GRCm39)	C1448Y	probably damaging	Het
Tnpo3	T	A	6: 29,565,786 (GRCm39)	I523F	probably benign	Het
Vps13b	C	T	15: 35,372,177 (GRCm39)	S24L	probably damaging	Het
Zfyve16	T	A	13: 92,657,626 (GRCm39)	K762*	probably null	Het
Zmym2	T	A	14: 57,194,517 (GRCm39)	C1258*	probably null	Het
Zswim5	T	C	4: 116,842,933 (GRCm39)	W893R	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
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
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

Posted On

2012-12-06