Mutagenetix > Incidental Mutation

Incidental Mutation 'R6562:Wdr54'

522447

Institutional Source

Beutler Lab

Gene Symbol

Wdr54

Ensembl Gene

ENSMUSG00000030032

Gene Name

WD repeat domain 54

Synonyms

1700030E05Rik

MMRRC Submission

044686-MU

Accession Numbers

Essential gene?

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

Stock #

R6562 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83129691-83133383 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 83132050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000125894

SMART Domains

Protein: ENSMUSP00000122873
Gene: ENSMUSG00000030032

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133226

Predicted Effect

probably null
Transcript: ENSMUST00000153148

SMART Domains

Protein: ENSMUSP00000116608
Gene: ENSMUSG00000030032

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: ENSMUST00000154625

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146969

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203183

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144723

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

Meta Mutation Damage Score

0.9492

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,970,543 (GRCm39)	K26E	probably benign	Het
Abt1	T	G	13: 23,607,758 (GRCm39)	E82A	probably damaging	Het
Actr8	A	G	14: 29,708,411 (GRCm39)		probably null	Het
Akap12	G	T	10: 4,306,141 (GRCm39)	E984*	probably null	Het
Ankrd13a	C	A	5: 114,942,453 (GRCm39)		probably benign	Het
Ankrd13c	T	A	3: 157,705,309 (GRCm39)	S411T	probably damaging	Het
Arhgef28	A	G	13: 98,124,647 (GRCm39)		probably null	Het
Arhgef3	A	T	14: 26,874,953 (GRCm39)		probably benign	Het
Atad5	T	C	11: 80,024,032 (GRCm39)	S1712P	probably benign	Het
Bbs12	A	G	3: 37,374,389 (GRCm39)	E394G	probably damaging	Het
Ccdc158	T	G	5: 92,810,581 (GRCm39)	K102N	probably damaging	Het
Ccdc169	A	G	3: 55,058,235 (GRCm39)	N89S	probably damaging	Het
Cd200l1	C	T	16: 45,264,442 (GRCm39)	E39K	probably benign	Het
Cenpu	T	C	8: 47,025,858 (GRCm39)	I132T	possibly damaging	Het
Cnrip1	G	A	11: 17,028,539 (GRCm39)	W157*	probably null	Het
Ctnnd1	A	G	2: 84,454,652 (GRCm39)	S53P	probably benign	Het
Dcpp3	AGGCCATGCTGGCC	AGGCC	17: 24,136,572 (GRCm39)		probably benign	Het
Dock7	A	T	4: 98,879,647 (GRCm39)	V969D	probably damaging	Het
Ehd2	C	A	7: 15,691,492 (GRCm39)	R280L	probably benign	Het
Entpd5	T	C	12: 84,432,974 (GRCm39)	T218A	probably damaging	Het
Fcrl2	A	C	3: 87,164,635 (GRCm39)	I297S	probably benign	Het
Frmpd2	T	A	14: 33,293,872 (GRCm39)	L1346Q	probably benign	Het
Fry	T	C	5: 150,249,614 (GRCm39)	S142P	probably damaging	Het
Gbgt1	A	T	2: 28,394,898 (GRCm39)	I179F	probably damaging	Het
Gm17067	A	T	7: 42,358,153 (GRCm39)	S116R	probably damaging	Het
Gm5565	G	T	5: 146,094,964 (GRCm39)	P261T	probably damaging	Het
Kat6a	T	C	8: 23,401,803 (GRCm39)	F391L	probably benign	Het
Kcnmb4	A	T	10: 116,309,089 (GRCm39)		probably null	Het
Krt6a	T	A	15: 101,600,094 (GRCm39)	H386L	probably benign	Het
L3mbtl1	C	T	2: 162,812,124 (GRCm39)	T723I	probably benign	Het
Lamb2	A	T	9: 108,364,207 (GRCm39)	R1049W	possibly damaging	Het
Lrmda	T	C	14: 22,648,254 (GRCm39)		probably benign	Het
Lysmd2	C	T	9: 75,542,691 (GRCm39)	T95I	unknown	Het
Ndst3	A	G	3: 123,346,181 (GRCm39)	S698P	probably damaging	Het
Nin	T	C	12: 70,102,728 (GRCm39)	D300G	probably damaging	Het
Nutf2	G	T	8: 106,602,258 (GRCm39)	D23Y	probably benign	Het
Or6c211	G	A	10: 129,506,008 (GRCm39)	P127S	probably damaging	Het
Ovgp1	A	G	3: 105,887,589 (GRCm39)	Y300C	probably damaging	Het
Pgghg	A	G	7: 140,526,506 (GRCm39)	I633V	probably benign	Het
Pik3r3	C	T	4: 116,157,006 (GRCm39)	Q496*	probably null	Het
Pkn3	G	T	2: 29,970,699 (GRCm39)		probably null	Het
Plin2	A	T	4: 86,576,832 (GRCm39)	S298T	probably benign	Het
Prdm8	T	C	5: 98,331,202 (GRCm39)	V18A	possibly damaging	Het
Rel	C	A	11: 23,707,026 (GRCm39)	G59*	probably null	Het
Siglecg	A	G	7: 43,058,481 (GRCm39)	R123G	possibly damaging	Het
Slc13a1	T	A	6: 24,150,792 (GRCm39)	I49F	probably benign	Het
Slc39a10	T	A	1: 46,874,724 (GRCm39)	T193S	probably benign	Het
Slc9a3	T	A	13: 74,303,280 (GRCm39)	V191E	probably damaging	Het
Spata31e2	T	A	1: 26,721,443 (GRCm39)	T1246S	possibly damaging	Het
Sult2b1	A	C	7: 45,391,670 (GRCm39)	S39A	probably benign	Het
Tead1	A	G	7: 112,460,650 (GRCm39)	T185A	probably benign	Het
Tmem67	A	G	4: 12,053,445 (GRCm39)		probably null	Het
Trim12c	A	T	7: 103,994,341 (GRCm39)		probably null	Het
Trpm6	T	A	19: 18,815,406 (GRCm39)	F1164Y	probably damaging	Het
Ube2d1	C	T	10: 71,098,071 (GRCm39)	D16N	probably benign	Het
Vmn2r24	A	T	6: 123,757,386 (GRCm39)	I85F	probably benign	Het
Vwde	T	A	6: 13,193,122 (GRCm39)	N406Y	possibly damaging	Het
Zcchc14	A	T	8: 122,330,842 (GRCm39)	N840K	probably damaging	Het
Zfp451	C	A	1: 33,801,260 (GRCm39)	S1052I	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CTTCACATACAGGCCCTAGC -3'
(R):5'- CTTTTAGATGTCACATGCGCAG -3'

Sequencing Primer
(F):5'- GCCCTAGCCCTGTCTCTAG -3'
(R):5'- TGGATAAGAATAGTGCCTGCCTCC -3'

Posted On

2018-06-06