Mutagenetix > Incidental Mutation

Incidental Mutation 'R5662:Wdr55'

444168

Institutional Source

Beutler Lab

Gene Symbol

Wdr55

Ensembl Gene

ENSMUSG00000042660

Gene Name

WD repeat domain 55

Synonyms

2410080P20Rik

MMRRC Submission

043305-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5662 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36893275-36896761 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36893448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 37 (V37M)

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

possibly damaging
Transcript: ENSMUST00000049323
AA Change: V37M

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000039010
Gene: ENSMUSG00000042660
AA Change: V37M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124038

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224284

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.8%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	A	7: 78,749,855 (GRCm39)	V1542D	possibly damaging	Het
Acsm4	T	G	7: 119,294,023 (GRCm39)	N131K	possibly damaging	Het
Ankrd54	A	G	15: 78,946,814 (GRCm39)	S62P	possibly damaging	Het
Ccdc186	A	G	19: 56,781,920 (GRCm39)	I753T	probably benign	Het
Cers2	C	T	3: 95,228,295 (GRCm39)	R112C	probably damaging	Het
Col6a4	C	G	9: 105,945,200 (GRCm39)	R971S	probably damaging	Het
Ctsf	T	C	19: 4,906,606 (GRCm39)	S178P	probably damaging	Het
Dennd4c	C	T	4: 86,713,525 (GRCm39)	T492I	probably benign	Het
Dhx8	A	G	11: 101,657,584 (GRCm39)	K1212E	possibly damaging	Het
Dnah8	A	G	17: 30,956,307 (GRCm39)	T2096A	probably damaging	Het
Ephb4	A	T	5: 137,370,457 (GRCm39)	I886F	probably damaging	Het
Eprs1	T	G	1: 185,126,622 (GRCm39)	N519K	possibly damaging	Het
Fam3c	T	C	6: 22,355,061 (GRCm39)		probably benign	Het
Galnt17	G	A	5: 131,114,844 (GRCm39)	R219C	probably damaging	Het
Gm10645	A	G	8: 83,892,486 (GRCm39)		probably benign	Het
Gpr132	G	A	12: 112,816,416 (GRCm39)	R137C	probably damaging	Het
Hydin	T	G	8: 111,307,341 (GRCm39)	S3907A	probably benign	Het
Ighv1-49	A	T	12: 115,019,027 (GRCm39)	V56E	probably damaging	Het
Igtp	A	G	11: 58,097,105 (GRCm39)	D92G	probably damaging	Het
Itga1	C	T	13: 115,122,707 (GRCm39)	V750I	probably benign	Het
Katnip	A	G	7: 125,441,875 (GRCm39)	R595G	probably benign	Het
Kif3c	T	A	12: 3,417,031 (GRCm39)	Y351N	probably damaging	Het
Klhdc1	T	A	12: 69,329,939 (GRCm39)	I356N	probably benign	Het
Lrrc34	T	C	3: 30,685,473 (GRCm39)	Y292C	probably benign	Het
Ly75	G	A	2: 60,182,725 (GRCm39)	T526M	probably damaging	Het
Mroh4	A	T	15: 74,497,277 (GRCm39)	D181E	possibly damaging	Het
Nutm1	T	C	2: 112,079,645 (GRCm39)	N757D	probably benign	Het
Or1e25	T	C	11: 73,494,005 (GRCm39)	F200L	probably benign	Het
Or1m1	A	G	9: 18,666,896 (GRCm39)	F12L	probably damaging	Het
Or6c215	T	C	10: 129,638,176 (GRCm39)	T73A	possibly damaging	Het
Or9s18	T	C	13: 65,300,067 (GRCm39)	F10L	possibly damaging	Het
Paxbp1	G	A	16: 90,834,285 (GRCm39)	T167M	probably benign	Het
Pnpla7	A	G	2: 24,942,396 (GRCm39)	D1238G	probably damaging	Het
Pom121l2	T	C	13: 22,166,358 (GRCm39)	S210P	probably benign	Het
Ripor3	T	G	2: 167,835,476 (GRCm39)	N165T	probably benign	Het
Serpine3	T	G	14: 62,908,291 (GRCm39)	S106R	probably benign	Het
Slc25a11	G	A	11: 70,536,245 (GRCm39)	R158*	probably null	Het
Slc26a6	G	A	9: 108,736,538 (GRCm39)	V506M	possibly damaging	Het
Slc45a2	A	G	15: 11,022,169 (GRCm39)	K304E	probably benign	Het
Slc4a4	C	T	5: 89,176,103 (GRCm39)	L25F	probably damaging	Het
Smarcb1	T	C	10: 75,740,404 (GRCm39)	N267S	possibly damaging	Het
Spink6	C	A	18: 44,207,481 (GRCm39)	Q24K	possibly damaging	Het
Srebf2	T	C	15: 82,079,204 (GRCm39)	S811P	probably benign	Het
Ssc4d	A	G	5: 135,989,748 (GRCm39)	*587R	probably null	Het
Sult2a8	C	T	7: 14,161,765 (GRCm39)	R27H	probably benign	Het
Sun2	C	T	15: 79,623,069 (GRCm39)	A90T	probably benign	Het
Ubr7	T	C	12: 102,734,526 (GRCm39)	S267P	probably benign	Het
Xdh	C	T	17: 74,248,110 (GRCm39)	G45S	probably damaging	Het
Zfp638	T	A	6: 83,920,111 (GRCm39)	S570T	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
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
R9365:Wdr55	UTSW	18	36,893,354 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GAAATCCTCCCAGTGCACTTC -3'
(R):5'- TGTTACTGAACGATTCGGGCC -3'

Sequencing Primer
(F):5'- AGTGCACTTCCGATCCCG -3'
(R):5'- GCCGTCTGAGTCTCATAAGATGC -3'

Posted On

2016-11-09