Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00331:Wdr54'

6349

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr54

Ensembl Gene

ENSMUSG00000030032

Gene Name

WD repeat domain 54

Synonyms

1700030E05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL00331

Quality Score

Status

Chromosome

Chromosomal Location

83129691-83133383 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83132755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 33 (H33R)

Ref Sequence

ENSEMBL: ENSMUSP00000116608 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032106] [ENSMUST00000065512] [ENSMUST00000087938] [ENSMUST00000121093] [ENSMUST00000125894] [ENSMUST00000153148] [ENSMUST00000203203]

AlphaFold

Q9R0D8

Predicted Effect

probably benign
Transcript: ENSMUST00000032106

SMART Domains

Protein: ENSMUSP00000032106
Gene: ENSMUSG00000030030

Domain	Start	End	E-Value	Type
Pfam:DUF4639	6	571	3.7e-266	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000032108

Predicted Effect

probably benign
Transcript: ENSMUST00000065512

SMART Domains

Protein: ENSMUSP00000065571
Gene: ENSMUSG00000034930

Domain	Start	End	E-Value	Type
Hr1	36	99	5.65e-13	SMART
Pfam:Anillin	117	270	8.3e-46	PFAM
PH	310	418	2.3e-4	SMART
low complexity region	490	505	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000087938

SMART Domains

Protein: ENSMUSP00000085249
Gene: ENSMUSG00000034930

Domain	Start	End	E-Value	Type
Hr1	23	86	1.62e-13	SMART
Pfam:Anillin	103	258	8e-25	PFAM
PH	297	405	2.3e-4	SMART
low complexity region	477	492	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121093

SMART Domains

Protein: ENSMUSP00000112501
Gene: ENSMUSG00000034930

Domain	Start	End	E-Value	Type
Hr1	23	86	1.62e-13	SMART
Pfam:Anillin	103	258	8e-25	PFAM
PH	297	405	2.3e-4	SMART
low complexity region	477	492	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125894
AA Change: H33R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000122873
Gene: ENSMUSG00000030032
AA Change: H33R

Domain	Start	End	E-Value	Type
low complexity region	12	22	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133226

Predicted Effect

probably benign
Transcript: ENSMUST00000153148
AA Change: H33R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000116608
Gene: ENSMUSG00000030032
AA Change: H33R

Domain	Start	End	E-Value	Type
low complexity region	12	22	N/A	INTRINSIC
WD40	153	197	5.92e1	SMART
WD40	201	238	3.55e1	SMART
WD40	241	280	1.79e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000213056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146969

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154625

Predicted Effect

probably benign
Transcript: ENSMUST00000203203

SMART Domains

Protein: ENSMUSP00000145406
Gene: ENSMUSG00000030030

Domain	Start	End	E-Value	Type
Pfam:DUF4639	6	82	1.4e-52	PFAM
low complexity region	90	107	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	C	A	1: 74,320,595 (GRCm39)		probably benign	Het
Adamts19	T	A	18: 59,140,397 (GRCm39)		probably benign	Het
Afg3l1	T	A	8: 124,214,128 (GRCm39)	F190I	probably benign	Het
Alms1	T	A	6: 85,618,353 (GRCm39)	S2800T	possibly damaging	Het
Alox5	A	T	6: 116,392,478 (GRCm39)	W348R	probably damaging	Het
Atp13a5	G	A	16: 29,085,766 (GRCm39)	Q823*	probably null	Het
Atp6v1b2	T	C	8: 69,541,586 (GRCm39)		probably null	Het
Chuk	T	C	19: 44,076,462 (GRCm39)	I416M	possibly damaging	Het
Cimip2b	G	A	4: 43,428,158 (GRCm39)	R100W	possibly damaging	Het
Dmbt1	A	T	7: 130,701,020 (GRCm39)	Q1066L	possibly damaging	Het
Dnah5	A	G	15: 28,421,766 (GRCm39)	T3873A	probably damaging	Het
Endog	C	T	2: 30,062,912 (GRCm39)	T184M	probably damaging	Het
Fcgbp	T	C	7: 27,800,966 (GRCm39)		probably benign	Het
Flii	A	G	11: 60,606,659 (GRCm39)	I1061T	probably benign	Het
Hdac2	T	A	10: 36,873,067 (GRCm39)	N308K	probably damaging	Het
Hoxa2	T	G	6: 52,140,497 (GRCm39)	Y163S	probably damaging	Het
Hsd3b7	T	C	7: 127,402,144 (GRCm39)	L263P	probably damaging	Het
Klf17	T	C	4: 117,618,235 (GRCm39)	T41A	probably benign	Het
Lrrfip1	T	C	1: 90,996,343 (GRCm39)	M42T	probably damaging	Het
Mapk8ip1	C	T	2: 92,215,533 (GRCm39)	V614I	probably benign	Het
Mocs1	T	G	17: 49,742,292 (GRCm39)		probably null	Het
Moxd1	T	C	10: 24,158,453 (GRCm39)		probably benign	Het
Mterf1a	T	C	5: 3,941,610 (GRCm39)	E86G	probably damaging	Het
Muc4	A	G	16: 32,574,613 (GRCm39)	D1021G	probably benign	Het
Nomo1	T	C	7: 45,694,760 (GRCm39)	S212P	possibly damaging	Het
Or5b116	A	G	19: 13,422,988 (GRCm39)	D204G	probably benign	Het
Or8c15	T	A	9: 38,120,534 (GRCm39)	Y60N	probably damaging	Het
Phf21a	A	C	2: 92,178,374 (GRCm39)	T385P	probably damaging	Het
Piwil4	A	T	9: 14,626,327 (GRCm39)		probably benign	Het
Pknox1	T	C	17: 31,818,619 (GRCm39)		probably null	Het
Prr14l	T	C	5: 32,988,410 (GRCm39)	I362V	probably benign	Het
Sergef	C	T	7: 46,284,844 (GRCm39)		probably null	Het
Sez6l	T	C	5: 112,572,511 (GRCm39)	D948G	probably damaging	Het
Skor1	A	T	9: 63,053,723 (GRCm39)	L54Q	probably damaging	Het
Sntn	C	T	14: 13,679,086 (GRCm38)	Q87*	probably null	Het
Syde2	A	G	3: 145,720,096 (GRCm39)	K772E	possibly damaging	Het
Taf2	T	A	15: 54,934,845 (GRCm39)		probably null	Het
Tbc1d13	T	A	2: 30,030,523 (GRCm39)	Y113N	probably damaging	Het
Tmem154	T	C	3: 84,591,722 (GRCm39)	F91L	probably benign	Het
Tmem63a	A	G	1: 180,794,062 (GRCm39)	D533G	possibly damaging	Het
Tmprss15	A	T	16: 78,782,882 (GRCm39)	N712K	possibly damaging	Het
Trip12	A	T	1: 84,708,262 (GRCm39)	D603E	probably damaging	Het
Trmt11	T	C	10: 30,442,445 (GRCm39)	D246G	probably damaging	Het
Vmn1r174	T	A	7: 23,453,958 (GRCm39)	M208K	possibly damaging	Het
Zfp207	A	G	11: 80,279,828 (GRCm39)	D111G	probably benign	Het

Other mutations in Wdr54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02537:Wdr54	APN	6	83,130,372 (GRCm39)	missense	possibly damaging	0.94
R6562:Wdr54	UTSW	6	83,132,050 (GRCm39)	critical splice donor site	probably null
R6738:Wdr54	UTSW	6	83,132,109 (GRCm39)	missense	probably damaging	1.00
R6820:Wdr54	UTSW	6	83,131,601 (GRCm39)	missense	probably benign	0.00
R6990:Wdr54	UTSW	6	83,132,629 (GRCm39)	critical splice donor site	probably null
R7343:Wdr54	UTSW	6	83,131,921 (GRCm39)	missense	probably benign	0.00
R7610:Wdr54	UTSW	6	83,129,839 (GRCm39)	missense	possibly damaging	0.55
R8474:Wdr54	UTSW	6	83,129,985 (GRCm39)	missense	probably benign
R8483:Wdr54	UTSW	6	83,130,591 (GRCm39)	missense	probably benign	0.01
R8960:Wdr54	UTSW	6	83,132,739 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20