Mutagenetix > Incidental Mutation

Incidental Mutation 'R9365:Wdr55'

708936

Institutional Source

Beutler Lab

Gene Symbol

Wdr55

Ensembl Gene

ENSMUSG00000042660

Gene Name

WD repeat domain 55

Synonyms

2410080P20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9365 (G1)

Quality Score

178.009

Status

Validated

Chromosome

Chromosomal Location

36893275-36896761 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 36893354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 5 (C5W)

Ref Sequence

ENSEMBL: ENSMUSP00000039010 (fasta)

Gene Model

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

AlphaFold

Q9CX97

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: C5W

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039010
Gene: ENSMUSG00000042660
AA Change: C5W

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

Meta Mutation Damage Score

0.1032

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (60/60)

MGI Phenotype

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

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Ahi1	G	A	10: 20,848,035 (GRCm39)	R481Q	probably damaging	Het
Arhgef3	T	C	14: 27,101,555 (GRCm39)	I77T	probably damaging	Het
Ash1l	T	A	3: 88,889,207 (GRCm39)	V362E	possibly damaging	Het
Bcat2	T	A	7: 45,225,294 (GRCm39)	F57L	probably damaging	Het
Ccdc73	C	T	2: 104,738,011 (GRCm39)	L36F	probably damaging	Het
Ccl19	C	T	4: 42,756,288 (GRCm39)	V15I	probably benign	Het
Cenpe	T	A	3: 134,954,207 (GRCm39)	V1688E	possibly damaging	Het
Ces1a	A	T	8: 93,774,727 (GRCm39)	F4I	probably benign	Het
Chchd6	G	A	6: 89,551,413 (GRCm39)	P83S	probably benign	Het
Cnr1	T	C	4: 33,943,798 (GRCm39)	M62T	probably benign	Het
Colec12	T	C	18: 9,848,146 (GRCm39)	L108P	probably damaging	Het
Cyb5a	T	C	18: 84,894,979 (GRCm39)		probably benign	Het
Dhrs4	C	T	14: 55,724,776 (GRCm39)	T181I	probably benign	Het
Disc1	T	C	8: 125,851,285 (GRCm39)	S392P	probably benign	Het
Dnah3	A	G	7: 119,566,859 (GRCm39)	F69L		Het
Ehmt1	T	C	2: 24,728,722 (GRCm39)	D726G	probably damaging	Het
Epg5	T	A	18: 77,997,957 (GRCm39)	L462I	probably damaging	Het
Exoc2	A	T	13: 31,040,697 (GRCm39)	S774T	probably benign	Het
Fam135b	A	G	15: 71,334,813 (GRCm39)	S794P	probably benign	Het
Frmd4a	T	C	2: 4,606,973 (GRCm39)	V646A	probably benign	Het
Gm3543	G	T	14: 41,804,093 (GRCm39)	D57E	possibly damaging	Het
Golgb1	T	A	16: 36,736,124 (GRCm39)	D1831E	probably damaging	Het
Hace1	T	G	10: 45,586,092 (GRCm39)		probably null	Het
Irgc	T	C	7: 24,131,872 (GRCm39)	E315G	possibly damaging	Het
Ism1	A	G	2: 139,582,321 (GRCm39)	Y211C	probably damaging	Het
Kpna1	T	G	16: 35,833,287 (GRCm39)	V121G	probably damaging	Het
Lifr	T	A	15: 7,198,521 (GRCm39)	F250L	probably damaging	Het
Llgl2	A	G	11: 115,740,407 (GRCm39)	T368A	probably benign	Het
Lmln	T	A	16: 32,925,169 (GRCm39)	C467*	probably null	Het
Lrrtm3	T	C	10: 63,923,943 (GRCm39)	E408G	probably benign	Het
Melk	C	T	4: 44,340,693 (GRCm39)	A330V	probably null	Het
Mmp13	T	G	9: 7,277,921 (GRCm39)	D271E	probably benign	Het
Myh11	T	C	16: 14,052,297 (GRCm39)	T390A		Het
Myh8	A	G	11: 67,174,632 (GRCm39)	K249R	probably benign	Het
Nr1h4	T	A	10: 89,319,315 (GRCm39)	M184L	probably damaging	Het
Obscn	T	A	11: 58,885,337 (GRCm39)		probably null	Het
Otog	T	G	7: 45,920,688 (GRCm39)	C964G	probably damaging	Het
Oxct2b	T	C	4: 123,010,589 (GRCm39)	S170P	probably benign	Het
Pcdha4	T	C	18: 37,087,112 (GRCm39)	S432P	possibly damaging	Het
Prb1a	T	A	6: 132,184,201 (GRCm39)	R477S	unknown	Het
Prh1	G	A	6: 132,549,108 (GRCm39)	G205D	unknown	Het
Psg23	C	T	7: 18,344,393 (GRCm39)	G354D	probably damaging	Het
Pura	T	G	18: 36,420,913 (GRCm39)	D233E	possibly damaging	Het
Rb1cc1	G	T	1: 6,315,117 (GRCm39)	L423F	probably damaging	Het
Rimbp3	T	C	16: 17,026,620 (GRCm39)	S15P	possibly damaging	Het
Scn1a	A	G	2: 66,148,465 (GRCm39)	F7L	probably benign	Het
Sftpb	A	T	6: 72,284,189 (GRCm39)	R203*	probably null	Het
Slc30a9	A	G	5: 67,507,142 (GRCm39)	K478R	probably damaging	Het
Slc35f5	T	A	1: 125,496,333 (GRCm39)	M156K	probably benign	Het
Slc41a3	A	G	6: 90,612,327 (GRCm39)	I232V	probably benign	Het
Slit2	A	G	5: 48,461,534 (GRCm39)	D1527G	probably benign	Het
Srfbp1	T	G	18: 52,623,540 (GRCm39)	V389G	possibly damaging	Het
Sun2	C	T	15: 79,622,720 (GRCm39)		probably null	Het
Tep1	G	T	14: 51,064,597 (GRCm39)	A2386D	probably damaging	Het
Tex15	T	A	8: 34,064,564 (GRCm39)	S1331R	possibly damaging	Het
Tgm1	A	T	14: 55,942,349 (GRCm39)	N667K	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tsen54	T	C	11: 115,713,410 (GRCm39)	F438L	probably damaging	Het
Ube4a	T	C	9: 44,862,191 (GRCm39)	H150R	probably benign	Het
Uty	T	C	Y: 1,099,712 (GRCm39)	N1161S	possibly damaging	Het
Vmn2r16	T	A	5: 109,488,064 (GRCm39)	D312E	probably damaging	Het
Zbtb24	C	A	10: 41,332,540 (GRCm39)	P405Q	probably damaging	Het
Zkscan2	T	A	7: 123,079,591 (GRCm39)	I789F	probably damaging	Het

Other mutations in Wdr55

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01112:Wdr55	APN	18	36,895,132 (GRCm39)	critical splice donor site	probably null
IGL02720:Wdr55	APN	18	36,896,435 (GRCm39)	missense	probably benign	0.12
IGL02723:Wdr55	APN	18	36,896,435 (GRCm39)	missense	probably benign	0.12
IGL02726:Wdr55	APN	18	36,896,435 (GRCm39)	missense	probably benign	0.12
IGL02728:Wdr55	APN	18	36,896,435 (GRCm39)	missense	probably benign	0.12
IGL02729:Wdr55	APN	18	36,896,435 (GRCm39)	missense	probably benign	0.12
IGL02731:Wdr55	APN	18	36,896,435 (GRCm39)	missense	probably benign	0.12
R1420:Wdr55	UTSW	18	36,893,392 (GRCm39)	missense	probably benign	0.00
R1952:Wdr55	UTSW	18	36,893,437 (GRCm39)	missense	probably damaging	1.00
R2143:Wdr55	UTSW	18	36,895,419 (GRCm39)	missense	possibly damaging	0.95
R2144:Wdr55	UTSW	18	36,895,419 (GRCm39)	missense	possibly damaging	0.95
R4323:Wdr55	UTSW	18	36,896,153 (GRCm39)	missense	probably benign	0.00
R4497:Wdr55	UTSW	18	36,893,448 (GRCm39)	missense	possibly damaging	0.85
R4937:Wdr55	UTSW	18	36,895,451 (GRCm39)	missense	probably benign	0.00
R5662:Wdr55	UTSW	18	36,893,448 (GRCm39)	missense	possibly damaging	0.85
R6315:Wdr55	UTSW	18	36,895,122 (GRCm39)	missense	probably damaging	1.00
R6499:Wdr55	UTSW	18	36,895,231 (GRCm39)	missense	probably benign	0.00
R6679:Wdr55	UTSW	18	36,896,177 (GRCm39)	missense	probably damaging	1.00
R7038:Wdr55	UTSW	18	36,893,473 (GRCm39)	missense	probably damaging	1.00
R7151:Wdr55	UTSW	18	36,895,989 (GRCm39)	missense	possibly damaging	0.48
R7687:Wdr55	UTSW	18	36,895,076 (GRCm39)	missense	probably damaging	1.00
R7808:Wdr55	UTSW	18	36,893,469 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GTCTTAGAGGAAGCTGCACG -3'
(R):5'- CAGAGCAGTTTTAACACACTTCAC -3'

Sequencing Primer
(F):5'- GCTGCGCTCGCTTAATTCG -3'
(R):5'- GCAGTTTTAACACACTTCACCCTACG -3'

Posted On

2022-04-18