Mutagenetix > Incidental Mutation

Incidental Mutation 'R7079:Wdr93'

549414

Institutional Source

Beutler Lab

Gene Symbol

Wdr93

Ensembl Gene

ENSMUSG00000039099

Gene Name

WD repeat domain 93

Synonyms

EG626359

MMRRC Submission

045173-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R7079 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79392911-79435698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79399040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 58 (M58T)

Ref Sequence

ENSEMBL: ENSMUSP00000037467 (fasta)

Gene Model

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

AlphaFold

Q402B2

Predicted Effect

probably damaging
Transcript: ENSMUST00000035622
AA Change: M58T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037467
Gene: ENSMUSG00000039099
AA Change: M58T

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,402,323 (GRCm39)	L405S	possibly damaging	Het
2310009B15Rik	T	A	1: 138,779,865 (GRCm39)	Q129L	possibly damaging	Het
4921509C19Rik	T	G	2: 151,315,198 (GRCm39)	D160A	probably damaging	Het
Aspn	A	G	13: 49,720,031 (GRCm39)	Y349C	probably damaging	Het
Atp2b1	A	G	10: 98,854,595 (GRCm39)	T1063A	probably benign	Het
BC035947	T	C	1: 78,474,552 (GRCm39)	E660G	probably damaging	Het
Cadps2	A	G	6: 23,323,408 (GRCm39)	L970P	probably damaging	Het
Caskin1	T	C	17: 24,717,858 (GRCm39)	I215T	probably benign	Het
Cort	C	G	4: 149,211,848 (GRCm39)	G85R	probably benign	Het
Cyp1a2	T	C	9: 57,589,161 (GRCm39)	I218V	probably benign	Het
Egfem1	T	A	3: 29,207,731 (GRCm39)	H140Q	probably benign	Het
Elapor2	A	G	5: 9,449,253 (GRCm39)	Y127C	probably damaging	Het
Fbln5	G	A	12: 101,723,667 (GRCm39)	P345S	probably damaging	Het
Fbxw21	A	G	9: 108,974,578 (GRCm39)	I314T	probably benign	Het
Gfpt2	G	A	11: 49,728,578 (GRCm39)	V679I	possibly damaging	Het
Gm10837	C	G	14: 122,728,142 (GRCm39)	A6G	unknown	Het
Grm1	T	C	10: 10,955,702 (GRCm39)	D194G	probably damaging	Het
Hectd1	G	A	12: 51,834,638 (GRCm39)	T875M	possibly damaging	Het
Hey2	T	A	10: 30,710,382 (GRCm39)	I124F	probably benign	Het
Hhat	T	C	1: 192,235,354 (GRCm39)	H434R	possibly damaging	Het
Itpripl2	A	G	7: 118,090,092 (GRCm39)	F156L	possibly damaging	Het
Kctd11	A	G	11: 69,770,847 (GRCm39)	Y64H	probably damaging	Het
Lmln	T	C	16: 32,887,661 (GRCm39)	L97P	probably benign	Het
Lrrc30	T	C	17: 67,939,016 (GRCm39)	D188G	possibly damaging	Het
Mmd	T	A	11: 90,158,325 (GRCm39)		probably null	Het
Nav3	G	A	10: 109,603,153 (GRCm39)	S1132L	probably benign	Het
Or1l4	C	A	2: 37,092,185 (GRCm39)	H311N	probably benign	Het
Or4c101	C	A	2: 88,389,853 (GRCm39)	N2K	probably damaging	Het
Or52ab7	C	T	7: 102,978,391 (GRCm39)	R233C	probably benign	Het
Pcdh15	A	G	10: 74,152,957 (GRCm39)	T421A	probably benign	Het
Pfkm	G	A	15: 97,992,963 (GRCm39)	R7H	probably benign	Het
Psme2b	A	G	11: 48,836,443 (GRCm39)	F168S	probably damaging	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Ptpn13	T	C	5: 103,649,752 (GRCm39)	V385A	probably benign	Het
Reep5	G	A	18: 34,480,176 (GRCm39)	T189I	probably damaging	Het
Sacm1l	T	A	9: 123,399,062 (GRCm39)	Y272N	probably damaging	Het
Slc26a6	T	A	9: 108,735,147 (GRCm39)	H348Q	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG	CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG	16: 91,453,729 (GRCm39)		probably benign	Het
Spata31f1a	T	C	4: 42,851,718 (GRCm39)	E146G	probably benign	Het
Stkld1	A	G	2: 26,839,359 (GRCm39)	I342V	probably benign	Het
Trim23	A	T	13: 104,323,801 (GRCm39)		probably null	Het
Trmt13	T	C	3: 116,376,480 (GRCm39)	T304A	probably benign	Het
Tyw3	G	C	3: 154,299,426 (GRCm39)	S94R	probably benign	Het
Ubqln3	A	T	7: 103,790,578 (GRCm39)	I504K	probably benign	Het
Uhrf2	T	G	19: 30,060,190 (GRCm39)	N519K	probably null	Het
Wwc2	G	A	8: 48,300,580 (GRCm39)	T961M	unknown	Het
Zfp35	C	T	18: 24,136,357 (GRCm39)	H234Y	possibly damaging	Het
Zscan21	C	T	5: 138,124,728 (GRCm39)	P215S	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
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'- AGTTCTCAGAAGGCCTCAGTG -3'
(R):5'- CCGAATCAGGCATTTTCATTAACG -3'

Sequencing Primer
(F):5'- ACGTGCTGCGATGTCATC -3'
(R):5'- CAGGCATTTTCATTAACGTGTAAGTG -3'

Posted On

2019-05-15