Mutagenetix > Incidental Mutation

Incidental Mutation 'R7309:Wdr93'

567444

Institutional Source

Beutler Lab

Gene Symbol

Wdr93

Ensembl Gene

ENSMUSG00000039099

Gene Name

WD repeat domain 93

Synonyms

EG626359

MMRRC Submission

045408-MU

Accession Numbers

Essential gene?

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

Stock #

R7309 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79392911-79435698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79423103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 456 (F456I)

Ref Sequence

ENSEMBL: ENSMUSP00000037467 (fasta)

Gene Model

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

AlphaFold

Q402B2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035622
AA Change: F456I

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037467
Gene: ENSMUSG00000039099
AA Change: F456I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

94% (47/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	C	5: 109,884,819 (GRCm39)	H346Q	probably damaging	Het
4932414N04Rik	A	T	2: 68,546,530 (GRCm39)	I71L	probably benign	Het
Anapc1	A	G	2: 128,516,604 (GRCm39)	S377P	probably damaging	Het
Cldnd2	A	G	7: 43,091,133 (GRCm39)	T22A	possibly damaging	Het
Comp	A	T	8: 70,826,328 (GRCm39)		probably null	Het
Cop1	A	G	1: 159,134,195 (GRCm39)	K446E	probably damaging	Het
Cox18	T	C	5: 90,362,917 (GRCm39)	T314A	possibly damaging	Het
Csrp3	A	G	7: 48,485,317 (GRCm39)	V60A	probably benign	Het
Dnah8	A	T	17: 31,093,988 (GRCm39)	Y4694F	probably damaging	Het
Dnm1l	A	G	16: 16,139,510 (GRCm39)	Y493H	probably damaging	Het
Esf1	A	T	2: 139,967,011 (GRCm39)		probably null	Het
Fam187a	T	A	11: 102,776,832 (GRCm39)	V212E	probably damaging	Het
Fign	A	T	2: 63,810,301 (GRCm39)	M323K	possibly damaging	Het
Foxf2	A	G	13: 31,810,496 (GRCm39)	K145R	probably damaging	Het
Fxyd5	T	C	7: 30,734,829 (GRCm39)	N133D	probably benign	Het
Hnrnpdl	A	T	5: 100,185,482 (GRCm39)	L240*	probably null	Het
Kcna7	T	G	7: 45,058,679 (GRCm39)	F322C	probably damaging	Het
Kcnj9	A	G	1: 172,153,825 (GRCm39)	C100R	probably damaging	Het
Lrrc14b	C	A	13: 74,511,321 (GRCm39)	C253F	probably benign	Het
Map3k11	T	C	19: 5,740,486 (GRCm39)	V71A	probably damaging	Het
Med13	C	A	11: 86,181,888 (GRCm39)	M1315I	probably benign	Het
Mettl24	T	C	10: 40,686,496 (GRCm39)	V291A	probably benign	Het
Miox	G	T	15: 89,220,252 (GRCm39)	C148F	probably damaging	Het
Mpdz	A	T	4: 81,300,195 (GRCm39)		probably null	Het
Mthfsd	G	A	8: 121,835,070 (GRCm39)		probably benign	Het
Myh15	G	A	16: 48,916,828 (GRCm39)	A383T	probably benign	Het
Nlrc5	A	G	8: 95,200,670 (GRCm39)	H117R	probably benign	Het
Ntrk1	A	T	3: 87,702,384 (GRCm39)	M23K	probably benign	Het
Or14c45	T	A	7: 86,176,349 (GRCm39)	L128H	probably damaging	Het
Or4c3d	T	A	2: 89,881,801 (GRCm39)	N289I	probably damaging	Het
Or8g21	T	A	9: 38,906,576 (GRCm39)	S52C	probably damaging	Het
Pkd1l3	A	G	8: 110,374,893 (GRCm39)		probably null	Het
Plcz1	A	T	6: 139,968,882 (GRCm39)	D185E	probably damaging	Het
Plekhg5	C	A	4: 152,196,985 (GRCm39)	Q757K	possibly damaging	Het
Prr23a2	T	A	9: 98,739,027 (GRCm39)	D128E	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Sgsm1	A	T	5: 113,416,712 (GRCm39)		probably null	Het
Sh3bp5	C	T	14: 31,100,246 (GRCm39)	V221M	probably benign	Het
Slc25a27	A	T	17: 43,975,083 (GRCm39)	D59E	probably benign	Het
Slc35e1	G	C	8: 73,246,358 (GRCm39)	R25G	unknown	Het
Slc4a4	T	C	5: 89,318,610 (GRCm39)	V626A	probably benign	Het
Slfn5	T	C	11: 82,847,529 (GRCm39)	L138P	probably damaging	Het
Stat1	A	G	1: 52,165,780 (GRCm39)		probably null	Het
Tnks2	G	T	19: 36,829,936 (GRCm39)	A206S	probably damaging	Het
Trav7-1	C	A	14: 52,892,521 (GRCm39)	Q25K	probably benign	Het
Ttn	A	G	2: 76,728,670 (GRCm39)	M5470T	unknown	Het
Vps35	A	T	8: 86,001,596 (GRCm39)	D407E	probably benign	Het
Wdr90	T	C	17: 26,079,676 (GRCm39)	D190G	probably benign	Het
Wdr95	A	G	5: 149,529,758 (GRCm39)	E675G	probably benign	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
R1136:Wdr93	UTSW	7	79,423,196 (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
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'- AGCTAGGCCATTGCTGTCTC -3'
(R):5'- TCAGTCTGACCTGTGGAACAG -3'

Sequencing Primer
(F):5'- AGGCCATTGCTGTCTCTTTCC -3'
(R):5'- GTCTGGCAGATTATCACCTTTG -3'

Posted On

2019-06-26