Mutagenetix > Incidental Mutation

Incidental Mutation 'R6738:Wdr54'

530303

Institutional Source

Beutler Lab

Gene Symbol

Wdr54

Ensembl Gene

ENSMUSG00000030032

Gene Name

WD repeat domain 54

Synonyms

1700030E05Rik

MMRRC Submission

044856-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R6738 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83129691-83133383 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83132109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 99 (S99P)

Ref Sequence

ENSEMBL: ENSMUSP00000122873 (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 damaging
Transcript: ENSMUST00000125894
AA Change: S99P

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

SMART Domains

Protein: ENSMUSP00000122873
Gene: ENSMUSG00000030032
AA Change: S99P

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: S99P

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000116608
Gene: ENSMUSG00000030032
AA Change: S99P

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146969

Predicted Effect

probably benign
Transcript: ENSMUST00000213056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154625

Meta Mutation Damage Score

0.0918

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,420,300 (GRCm39)		probably benign	Het
Abl1	T	C	2: 31,684,586 (GRCm39)	Y454H	probably damaging	Het
Ambp	A	T	4: 63,067,711 (GRCm39)	D166E	probably benign	Het
Amigo2	A	G	15: 97,143,345 (GRCm39)	V359A	possibly damaging	Het
Ankrd11	A	T	8: 123,618,660 (GRCm39)	S1710T	probably damaging	Het
Ankrd31	T	C	13: 97,040,635 (GRCm39)	S1713P	possibly damaging	Het
Arhgap45	A	T	10: 79,863,431 (GRCm39)	K758M	probably damaging	Het
Bclaf1	T	C	10: 20,199,515 (GRCm39)	I304T	possibly damaging	Het
C1ra	A	G	6: 124,494,718 (GRCm39)	Y327C	probably damaging	Het
Ccdc73	C	T	2: 104,822,433 (GRCm39)	S794L	probably benign	Het
Cd24a	A	G	10: 43,458,672 (GRCm39)	N48D	possibly damaging	Het
Col11a1	A	G	3: 113,906,116 (GRCm39)		probably benign	Het
Cyp11b2	G	A	15: 74,725,363 (GRCm39)	T252I	possibly damaging	Het
Dlx2	A	G	2: 71,376,406 (GRCm39)	Y111H	probably benign	Het
Dsp	T	C	13: 38,376,186 (GRCm39)	S1324P	possibly damaging	Het
Esyt3	A	T	9: 99,202,346 (GRCm39)	F522I	probably damaging	Het
Fam193b	C	T	13: 55,698,174 (GRCm39)	A45T	probably benign	Het
Flnb	A	G	14: 7,904,536 (GRCm38)	T980A	probably benign	Het
Gabrb2	G	T	11: 42,484,758 (GRCm39)	A272S	possibly damaging	Het
H2al2a	G	T	2: 18,001,429 (GRCm39)	Q86K	possibly damaging	Het
Ikbkb	T	G	8: 23,165,052 (GRCm39)	I243L	probably damaging	Het
Il18r1	A	G	1: 40,537,816 (GRCm39)	E527G	probably benign	Het
Krt35	A	T	11: 99,984,535 (GRCm39)	V320D	probably damaging	Het
Krt76	C	T	15: 101,795,913 (GRCm39)	R419H	probably benign	Het
Lrp2	T	A	2: 69,288,832 (GRCm39)	Y3678F	probably damaging	Het
Mab21l4	G	A	1: 93,087,707 (GRCm39)	L49F	probably benign	Het
Mnat1	T	G	12: 73,319,246 (GRCm39)	S290A	probably benign	Het
Mptx2	T	C	1: 173,102,422 (GRCm39)	E89G	probably benign	Het
Myom1	T	A	17: 71,407,393 (GRCm39)		probably null	Het
Naaladl2	A	G	3: 24,225,806 (GRCm39)	V541A	probably benign	Het
Nbeal2	T	C	9: 110,465,973 (GRCm39)	T851A	possibly damaging	Het
Ncoa4	A	G	14: 31,892,750 (GRCm39)	Y11C	probably benign	Het
Ntn5	T	A	7: 45,343,780 (GRCm39)		probably null	Het
Or10d4c	A	G	9: 39,557,957 (GRCm39)		probably benign	Het
Or1j18	C	T	2: 36,624,444 (GRCm39)	T37I	probably benign	Het
Otop2	A	G	11: 115,220,318 (GRCm39)	Y386C	probably damaging	Het
Ppp2r1a	T	A	17: 21,174,979 (GRCm39)		probably null	Het
Prkd2	C	A	7: 16,599,830 (GRCm39)	N764K	possibly damaging	Het
Ralgapa1	A	G	12: 55,809,512 (GRCm39)	L421S	probably damaging	Het
Ric3	G	A	7: 108,647,269 (GRCm39)	R184*	probably null	Het
Sfswap	A	G	5: 129,618,505 (GRCm39)	K480E	probably damaging	Het
Siah2	A	G	3: 58,598,974 (GRCm39)	V88A	probably benign	Het
Slc22a16	T	C	10: 40,461,298 (GRCm39)	F367L	probably damaging	Het
Slc23a2	T	C	2: 131,920,356 (GRCm39)	D183G	probably benign	Het
Svep1	T	C	4: 58,123,180 (GRCm39)	N712S	possibly damaging	Het
Tex21	A	G	12: 76,286,283 (GRCm39)	V72A	probably benign	Het
Tfap4	A	G	16: 4,367,311 (GRCm39)	Y184H	probably damaging	Het
Timeless	T	C	10: 128,076,504 (GRCm39)	Y138H	probably damaging	Het
Tln2	A	T	9: 67,293,946 (GRCm39)	N227K	possibly damaging	Het
Trip10	C	T	17: 57,563,899 (GRCm39)	P342S	probably benign	Het
Ttc6	A	T	12: 57,735,426 (GRCm39)	E1156V	probably damaging	Het
Ttn	T	C	2: 76,728,472 (GRCm39)		probably benign	Het
Vmn2r109	G	A	17: 20,774,785 (GRCm39)	S190L	possibly damaging	Het
Ythdf2	A	C	4: 131,932,272 (GRCm39)	I296R	probably benign	Het
Zfp445	A	G	9: 122,691,123 (GRCm39)	V24A	probably 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
R6562:Wdr54	UTSW	6	83,132,050 (GRCm39)	critical splice donor site	probably null
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'- AATTCCTCGGGCAAACATAGC -3'
(R):5'- TTTTAGATGTCACATGCGCAG -3'

Sequencing Primer
(F):5'- TAGCCTGTACTGAATACAAAAGCAG -3'
(R):5'- ATTAACTCTGTGACCCTTGGG -3'

Posted On

2018-08-01