Mutagenetix > Incidental Mutation

Incidental Mutation 'R6820:Wdr54'

537563

Institutional Source

Beutler Lab

Gene Symbol

Wdr54

Ensembl Gene

ENSMUSG00000030032

Gene Name

WD repeat domain 54

Synonyms

1700030E05Rik

MMRRC Submission

044932-MU

Accession Numbers

Essential gene?

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

Stock #

R6820 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83129691-83133383 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83131601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 139 (S139T)

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

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: S139T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000122873
Gene: ENSMUSG00000030032
AA Change: S139T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153148
AA Change: S139T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000116608
Gene: ENSMUSG00000030032
AA Change: S139T

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000213056

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	A	2: 93,673,266 (GRCm39)	N141Y	probably null	Het
Chkb	A	G	15: 89,312,379 (GRCm39)	L46P	probably damaging	Het
Col9a3	G	A	2: 180,248,927 (GRCm39)	V260M	probably damaging	Het
Dna2	T	C	10: 62,800,683 (GRCm39)	I739T	possibly damaging	Het
Dnah17	T	C	11: 117,959,826 (GRCm39)	H2620R	probably damaging	Het
Dsel	A	G	1: 111,787,547 (GRCm39)	V996A	probably damaging	Het
Dst	T	C	1: 34,250,337 (GRCm39)	L1757S	probably damaging	Het
Exoc5	A	T	14: 49,286,387 (GRCm39)		probably null	Het
Fam120a	A	T	13: 49,034,468 (GRCm39)	V1048E	possibly damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fbxw19	T	A	9: 109,311,079 (GRCm39)	T377S	probably benign	Het
Fbxw28	A	T	9: 109,167,493 (GRCm39)	F88Y	probably damaging	Het
Grik5	C	T	7: 24,745,780 (GRCm39)	R431Q	possibly damaging	Het
Gtsf1	T	C	15: 103,328,954 (GRCm39)	T92A	probably benign	Het
Hoxc13	A	G	15: 102,830,257 (GRCm39)	Y212C	probably damaging	Het
Itih2	T	C	2: 10,102,909 (GRCm39)	I742V	probably benign	Het
Kat7	T	C	11: 95,174,965 (GRCm39)	T351A	probably damaging	Het
Mlh3	T	C	12: 85,294,497 (GRCm39)	D1233G	probably damaging	Het
Mroh2b	A	G	15: 4,982,756 (GRCm39)	D1525G	probably damaging	Het
Nme5	T	C	18: 34,704,626 (GRCm39)	Y73C	probably damaging	Het
Nr3c2	T	C	8: 77,969,086 (GRCm39)	V957A	probably damaging	Het
Nup153	A	G	13: 46,863,459 (GRCm39)	S301P	probably benign	Het
Obscn	T	C	11: 58,942,019 (GRCm39)	D5013G	probably damaging	Het
Or4f54	C	T	2: 111,123,455 (GRCm39)	P281S	probably damaging	Het
Or5p51	A	G	7: 107,444,298 (GRCm39)	V214A	probably benign	Het
Or8g51	A	G	9: 38,608,771 (GRCm39)	V297A	possibly damaging	Het
Pak1	A	G	7: 97,535,586 (GRCm39)	N226D	probably benign	Het
Pak4	A	G	7: 28,262,461 (GRCm39)	Y384H	probably benign	Het
Pkp3	T	C	7: 140,659,757 (GRCm39)		probably null	Het
Prxl2b	A	T	4: 154,982,623 (GRCm39)	D50E	probably damaging	Het
Psd	G	T	19: 46,309,283 (GRCm39)	A558E	probably damaging	Het
Psmd14	C	A	2: 61,607,068 (GRCm39)	H172N	probably benign	Het
Pygb	G	T	2: 150,658,674 (GRCm39)	W366L	possibly damaging	Het
Rbm39	A	T	2: 156,021,146 (GRCm39)	M1K	probably null	Het
Rnf213	T	C	11: 119,339,664 (GRCm39)	I3421T	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Smg6	T	C	11: 74,932,790 (GRCm39)	V88A	probably damaging	Het
Tha1	T	C	11: 117,762,504 (GRCm39)	E80G	probably benign	Het
Tie1	A	G	4: 118,341,583 (GRCm39)	V243A	probably damaging	Het
Tmem215	T	C	4: 40,473,926 (GRCm39)	M1T	probably null	Het
Tpm2	A	G	4: 43,518,443 (GRCm39)	Y221H	probably damaging	Het
Ubap1	C	T	4: 41,379,854 (GRCm39)	P356L	probably benign	Het
Wbp2nl	G	T	15: 82,197,996 (GRCm39)	A178S	possibly damaging	Het
Wipi2	G	C	5: 142,615,555 (GRCm39)	Q14H	probably benign	Het
Zan	T	C	5: 137,406,106 (GRCm39)		probably benign	Het
Zfp735	A	G	11: 73,579,783 (GRCm39)	M1V	probably null	Het

Other mutations in Wdr54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Wdr54	APN	6	83,132,755 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- TTGCTAATACCCACGCCTGG -3'
(R):5'- ATGCTGAGGGGTTGACGAAC -3'

Sequencing Primer
(F):5'- GGCCTCCCAAGGGTGAAG -3'
(R):5'- CTGAGGGGTTGACGAACTTAGG -3'

Posted On

2018-10-18