Mutagenetix > Incidental Mutation

Incidental Mutation 'R7687:Wdr55'

593182

Institutional Source

Beutler Lab

Gene Symbol

Wdr55

Ensembl Gene

ENSMUSG00000042660

Gene Name

WD repeat domain 55

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7687 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36760239-36763708 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36762023 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 81 (S81P)

Ref Sequence

ENSEMBL: ENSMUSP00000039010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001416] [ENSMUST00000007042] [ENSMUST00000049323] [ENSMUST00000061522]

AlphaFold

Q9CX97

Predicted Effect

probably benign
Transcript: ENSMUST00000001416

SMART Domains

Protein: ENSMUSP00000001416
Gene: ENSMUSG00000001380

Domain	Start	End	E-Value	Type
WHEP-TRS	7	60	5.37e-11	SMART
Pfam:tRNA-synt_His	61	389	1.9e-41	PFAM
Pfam:HGTP_anticodon2	404	507	3.3e-12	PFAM
Pfam:HGTP_anticodon	410	501	4.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000007042

SMART Domains

Protein: ENSMUSP00000007042
Gene: ENSMUSG00000024474

Domain	Start	End	E-Value	Type
low complexity region	42	56	N/A	INTRINSIC
Pfam:RED_N	76	302	1.6e-105	PFAM
low complexity region	334	380	N/A	INTRINSIC
Pfam:RED_C	445	554	1.1e-52	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000049323
AA Change: S81P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000039010
Gene: ENSMUSG00000042660
AA Change: S81P

Domain	Start	End	E-Value	Type
low complexity region	11	22	N/A	INTRINSIC
WD40	31	67	4.6e0	SMART
WD40	74	113	1.12e-2	SMART
WD40	116	155	2.4e-2	SMART
WD40	158	197	2.76e-2	SMART
WD40	202	239	1.72e0	SMART
WD40	284	324	2.01e-4	SMART
low complexity region	380	388	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000061522

SMART Domains

Protein: ENSMUSP00000054412
Gene: ENSMUSG00000044595

Domain	Start	End	E-Value	Type
low complexity region	43	58	N/A	INTRINSIC
RRM	59	132	2.49e-10	SMART
RRM	139	214	3.01e-1	SMART
Pfam:DND1_DSRM	253	333	1.1e-27	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,258,182	K2383R	probably benign	Het
Acly	C	T	11: 100,504,854		probably null	Het
Baiap3	T	A	17: 25,249,337	I276F	possibly damaging	Het
Cdc14b	A	T	13: 64,209,193	D419E	probably benign	Het
Celsr2	G	T	3: 108,397,769	P2165T	probably benign	Het
Clk4	A	G	11: 51,281,398	D476G	probably benign	Het
Dera	A	G	6: 137,836,880	T10A		Het
Dip2c	A	T	13: 9,604,581	T742S	probably benign	Het
Dohh	C	A	10: 81,387,806	A231E	probably benign	Het
Dot1l	T	G	10: 80,789,368	S1150A	possibly damaging	Het
Eea1	T	A	10: 96,026,598	I794N	probably benign	Het
En2	T	C	5: 28,170,289	S277P	probably damaging	Het
Erich1	A	G	8: 14,030,691	L276P	probably damaging	Het
Flnb	A	G	14: 7,924,224	N1779S	probably damaging	Het
Frzb	T	A	2: 80,424,635	T186S	probably benign	Het
Gdf7	T	A	12: 8,298,257	R347*	probably null	Het
Ighv9-4	T	C	12: 114,300,263	I17V	not run	Het
Ipo13	G	A	4: 117,911,891	P235S	probably benign	Het
Itga2	C	A	13: 114,866,260	G565C	probably damaging	Het
Kcnc4	CCCGCCGCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGCCGCCGCCGCCGC	3: 107,458,609		probably benign	Het
Kcnk10	A	G	12: 98,435,096	I440T	probably damaging	Het
Kdm3a	T	A	6: 71,599,492	K779N	possibly damaging	Het
Kmt2d	C	T	15: 98,862,120	D1086N	unknown	Het
Kntc1	A	G	5: 123,759,089	I172V	probably benign	Het
Maip1	A	G	1: 57,411,844	E215G	probably damaging	Het
Mms19	A	T	19: 41,955,168	M417K	possibly damaging	Het
Mslnl	T	C	17: 25,743,183	V185A	probably damaging	Het
Naa11	A	T	5: 97,391,789	V170E	probably benign	Het
Ncapg	C	T	5: 45,699,885	P980S	probably benign	Het
Olfr170	T	C	16: 19,605,735	N310S	probably benign	Het
Pbxip1	A	G	3: 89,448,199	D675G	probably damaging	Het
Pdlim5	A	G	3: 142,277,847	S382P	probably benign	Het
Pkd1l1	T	A	11: 8,854,390	I2184F		Het
Plau	A	G	14: 20,839,798	Y237C	probably damaging	Het
Ppl	T	C	16: 5,097,942	T586A	probably benign	Het
Rapgef6	T	G	11: 54,661,075	I923S	possibly damaging	Het
Rbfox2	C	T	15: 77,306,494	G17D	unknown	Het
Sema3b	T	C	9: 107,603,814	D108G	probably damaging	Het
Slc6a20a	A	G	9: 123,656,266	I297T	probably damaging	Het
Slit1	A	G	19: 41,650,689	F261L	probably benign	Het
Tcp10a	T	A	17: 7,345,108	V433D	probably damaging	Het
Tktl2	A	G	8: 66,513,101	E437G	probably damaging	Het
Tll1	G	T	8: 64,121,492	Y109*	probably null	Het
Tmem79	A	G	3: 88,332,581	V274A	probably damaging	Het
Tnfrsf23	G	A	7: 143,681,462	S55L	probably benign	Het
Ubd	T	C	17: 37,193,974		probably null	Het
Ubl3	C	A	5: 148,506,175	R105L	possibly damaging	Het
Ubl7	A	T	9: 57,914,584	D72V	probably damaging	Het
Wtip	T	C	7: 34,116,619	Y344C	probably damaging	Het
Zfp488	A	G	14: 33,970,400	S269P	possibly damaging	Het
Zkscan2	A	C	7: 123,499,862	S36A	probably benign	Het

Other mutations in Wdr55

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01112:Wdr55	APN	18	36762079	critical splice donor site	probably null
IGL02720:Wdr55	APN	18	36763382	missense	probably benign	0.12
IGL02723:Wdr55	APN	18	36763382	missense	probably benign	0.12
IGL02726:Wdr55	APN	18	36763382	missense	probably benign	0.12
IGL02728:Wdr55	APN	18	36763382	missense	probably benign	0.12
IGL02729:Wdr55	APN	18	36763382	missense	probably benign	0.12
IGL02731:Wdr55	APN	18	36763382	missense	probably benign	0.12
R1420:Wdr55	UTSW	18	36760339	missense	probably benign	0.00
R1952:Wdr55	UTSW	18	36760384	missense	probably damaging	1.00
R2143:Wdr55	UTSW	18	36762366	missense	possibly damaging	0.95
R2144:Wdr55	UTSW	18	36762366	missense	possibly damaging	0.95
R4323:Wdr55	UTSW	18	36763100	missense	probably benign	0.00
R4497:Wdr55	UTSW	18	36760395	missense	possibly damaging	0.85
R4937:Wdr55	UTSW	18	36762398	missense	probably benign	0.00
R5662:Wdr55	UTSW	18	36760395	missense	possibly damaging	0.85
R6315:Wdr55	UTSW	18	36762069	missense	probably damaging	1.00
R6499:Wdr55	UTSW	18	36762178	missense	probably benign	0.00
R6679:Wdr55	UTSW	18	36763124	missense	probably damaging	1.00
R7038:Wdr55	UTSW	18	36760420	missense	probably damaging	1.00
R7151:Wdr55	UTSW	18	36762936	missense	possibly damaging	0.48
R7808:Wdr55	UTSW	18	36760416	missense	probably benign	0.04
R9365:Wdr55	UTSW	18	36760301	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGGCTGGGAATGTGTGACTC -3'
(R):5'- TGCTTTGTCCTTAGAGACGG -3'

Sequencing Primer
(F):5'- GACTTGAGTTTAGTCTCCAGTACTAC -3'
(R):5'- GCTTTGTCCTTAGAGACGGTAACAAG -3'

Posted On

2019-11-12