Mutagenetix > Incidental Mutation

Incidental Mutation 'R1136:Wdr93'

94997

Institutional Source

Beutler Lab

Gene Symbol

Wdr93

Ensembl Gene

ENSMUSG00000039099

Gene Name

WD repeat domain 93

Synonyms

EG626359

MMRRC Submission

039209-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R1136 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79392911-79435698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79423196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 487 (Y487H)

Ref Sequence

ENSEMBL: ENSMUSP00000037467 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035622]

AlphaFold

Q402B2

Predicted Effect

probably damaging
Transcript: ENSMUST00000035622
AA Change: Y487H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037467
Gene: ENSMUSG00000039099
AA Change: Y487H

Domain	Start	End	E-Value	Type
low complexity region	240	251	N/A	INTRINSIC
low complexity region	265	274	N/A	INTRINSIC
SCOP:d1jofa_	389	607	7e-4	SMART
Blast:WD40	413	451	2e-11	BLAST

Meta Mutation Damage Score

0.4115

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.7%
20x: 90.5%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	C	T	13: 68,878,436 (GRCm39)	G401S	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Bmp2	T	C	2: 133,402,847 (GRCm39)	F133L	probably damaging	Het
C1qtnf3	A	G	15: 10,978,670 (GRCm39)	E290G	probably damaging	Het
Ccdc180	C	A	4: 45,914,589 (GRCm39)	D701E	probably benign	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Csmd3	A	T	15: 47,539,213 (GRCm39)	I1508N	probably damaging	Het
Dgkh	T	C	14: 78,862,329 (GRCm39)	R80G	probably damaging	Het
Dock1	T	A	7: 134,449,902 (GRCm39)	V805D	possibly damaging	Het
Eef2	C	CN	10: 81,014,603 (GRCm39)		probably null	Het
Ercc6l2	T	A	13: 64,016,934 (GRCm39)	V679D	possibly damaging	Het
Esp6	T	C	17: 40,876,284 (GRCm39)	Y111H	probably benign	Het
Focad	T	C	4: 88,244,417 (GRCm39)	F799S	unknown	Het
Foxred1	C	A	9: 35,116,333 (GRCm39)	M438I	probably benign	Het
Galnt11	T	G	5: 25,463,943 (GRCm39)	V405G	probably damaging	Het
Gm4847	A	G	1: 166,457,935 (GRCm39)	Y473H	probably damaging	Het
Gpbp1l1	C	T	4: 116,450,115 (GRCm39)	T461M	probably damaging	Het
Hnrnpu	A	T	1: 178,158,790 (GRCm39)		probably benign	Het
Kmt2d	A	T	15: 98,755,646 (GRCm39)		probably benign	Het
Matr3	A	G	18: 35,705,948 (GRCm39)	H291R	probably damaging	Het
Mfsd14b	C	T	13: 65,243,506 (GRCm39)	S46N	probably benign	Het
Mtch1	C	T	17: 29,552,744 (GRCm39)		probably null	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Mylk	T	C	16: 34,820,688 (GRCm39)	I1880T	probably damaging	Het
N4bp2	T	C	5: 65,965,815 (GRCm39)	L1288P	probably damaging	Het
Ncf2	A	T	1: 152,706,123 (GRCm39)	H245L	probably damaging	Het
Nmd3	T	A	3: 69,654,049 (GRCm39)		probably benign	Het
Npdc1	G	T	2: 25,297,727 (GRCm39)	A127S	probably benign	Het
Nudt3	C	A	17: 27,842,080 (GRCm39)	R27L	probably benign	Het
Nwd1	C	T	8: 73,424,397 (GRCm39)		probably benign	Het
Pex7	T	A	10: 19,764,434 (GRCm39)	I170F	probably benign	Het
Phyhipl	A	G	10: 70,404,902 (GRCm39)	V57A	probably damaging	Het
Pkhd1	G	A	1: 20,593,053 (GRCm39)	P1687S	possibly damaging	Het
Plekhj1	A	T	10: 80,633,654 (GRCm39)		probably null	Het
Prss21	T	A	17: 24,091,968 (GRCm39)	L312H	probably damaging	Het
Samsn1	T	C	16: 75,670,408 (GRCm39)	I232V	probably null	Het
Sec63	A	T	10: 42,682,542 (GRCm39)	D411V	probably damaging	Het
Slc44a4	C	T	17: 35,146,998 (GRCm39)	H343Y	probably damaging	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tent2	C	T	13: 93,312,205 (GRCm39)		probably null	Het
Tmtc3	A	G	10: 100,307,905 (GRCm39)		probably benign	Het
Trafd1	C	T	5: 121,511,387 (GRCm39)	R477H	possibly damaging	Het
Uhrf2	T	A	19: 30,033,626 (GRCm39)		probably benign	Het
Vmn2r68	T	A	7: 84,871,549 (GRCm39)	D578V	possibly damaging	Het
Wdcp	G	A	12: 4,901,655 (GRCm39)	V504I	possibly damaging	Het
Zfp457	T	C	13: 67,441,846 (GRCm39)	H147R	probably damaging	Het

Other mutations in Wdr93

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00928:Wdr93	APN	7	79,425,301 (GRCm39)	missense	probably damaging	1.00
IGL01910:Wdr93	APN	7	79,421,321 (GRCm39)	missense	probably damaging	1.00
IGL01977:Wdr93	APN	7	79,402,253 (GRCm39)	missense	probably damaging	1.00
IGL01979:Wdr93	APN	7	79,426,400 (GRCm39)	missense	probably benign	0.03
IGL02191:Wdr93	APN	7	79,398,968 (GRCm39)	missense	probably damaging	0.98
R0008:Wdr93	UTSW	7	79,408,221 (GRCm39)	missense	probably damaging	1.00
R0008:Wdr93	UTSW	7	79,408,221 (GRCm39)	missense	probably damaging	1.00
R1168:Wdr93	UTSW	7	79,398,922 (GRCm39)	missense	probably damaging	0.99
R1586:Wdr93	UTSW	7	79,418,109 (GRCm39)	missense	probably damaging	0.99
R1605:Wdr93	UTSW	7	79,421,257 (GRCm39)	splice site	probably null
R1651:Wdr93	UTSW	7	79,399,830 (GRCm39)	missense	probably benign	0.00
R3078:Wdr93	UTSW	7	79,402,241 (GRCm39)	missense	possibly damaging	0.81
R3689:Wdr93	UTSW	7	79,421,333 (GRCm39)	missense	possibly damaging	0.91
R4013:Wdr93	UTSW	7	79,418,159 (GRCm39)	missense	possibly damaging	0.90
R4771:Wdr93	UTSW	7	79,426,511 (GRCm39)	missense	probably damaging	0.99
R4824:Wdr93	UTSW	7	79,399,817 (GRCm39)	nonsense	probably null
R4887:Wdr93	UTSW	7	79,435,522 (GRCm39)	missense	probably damaging	1.00
R5172:Wdr93	UTSW	7	79,402,241 (GRCm39)	missense	probably damaging	0.97
R5510:Wdr93	UTSW	7	79,399,779 (GRCm39)	missense	probably damaging	1.00
R5625:Wdr93	UTSW	7	79,420,766 (GRCm39)	missense	probably benign	0.00
R5648:Wdr93	UTSW	7	79,426,974 (GRCm39)	missense	probably benign	0.04
R5950:Wdr93	UTSW	7	79,423,179 (GRCm39)	missense	probably damaging	0.99
R6147:Wdr93	UTSW	7	79,408,245 (GRCm39)	missense	probably benign
R6530:Wdr93	UTSW	7	79,405,741 (GRCm39)	missense	probably damaging	1.00
R7056:Wdr93	UTSW	7	79,399,088 (GRCm39)	missense	probably damaging	1.00
R7079:Wdr93	UTSW	7	79,399,040 (GRCm39)	missense	probably damaging	1.00
R7309:Wdr93	UTSW	7	79,423,103 (GRCm39)	missense	possibly damaging	0.86
R7397:Wdr93	UTSW	7	79,416,172 (GRCm39)	missense	probably null	0.01
R7426:Wdr93	UTSW	7	79,427,055 (GRCm39)	critical splice donor site	probably null
R7455:Wdr93	UTSW	7	79,425,267 (GRCm39)	missense	probably benign	0.09
R7618:Wdr93	UTSW	7	79,435,474 (GRCm39)	missense	probably benign	0.02
R8360:Wdr93	UTSW	7	79,398,974 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GATGCAGCACAATGCTTGACCAC -3'
(R):5'- CTATGGCAGCAGTTCTGTCAGAGG -3'

Sequencing Primer
(F):5'- AATGCTTGACCACACCTGTC -3'
(R):5'- CTGTCAGTCTGACCTGTGGAAC -3'

Posted On

2014-01-05