Mutagenetix > Incidental Mutation

Incidental Mutation 'R8993:Wdr46'

684571

Institutional Source

Beutler Lab

Gene Symbol

Wdr46

Ensembl Gene

ENSMUSG00000024312

Gene Name

WD repeat domain 46

Synonyms

Bing4, 2310007I04Rik

MMRRC Submission

068824-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R8993 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33940660-33949695 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33949182 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 576 (H576R)

Ref Sequence

ENSEMBL: ENSMUSP00000025170 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008812] [ENSMUST00000025170] [ENSMUST00000087543] [ENSMUST00000174609]

AlphaFold

Q9Z0H1

Predicted Effect

probably benign
Transcript: ENSMUST00000008812

SMART Domains

Protein: ENSMUSP00000008812
Gene: ENSMUSG00000008668

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S13	14	142	2.2e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025170
AA Change: H576R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000025170
Gene: ENSMUSG00000024312
AA Change: H576R

Domain	Start	End	E-Value	Type
coiled coil region	126	155	N/A	INTRINSIC
low complexity region	204	217	N/A	INTRINSIC
WD40	225	262	1.02e2	SMART
WD40	267	302	3.3e1	SMART
Blast:WD40	305	344	8e-19	BLAST
WD40	347	386	9.52e-6	SMART
Blast:WD40	392	426	3e-14	BLAST
BING4CT	439	517	8.85e-53	SMART
low complexity region	542	556	N/A	INTRINSIC
low complexity region	586	593	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000087543

SMART Domains

Protein: ENSMUSP00000084823
Gene: ENSMUSG00000067370

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
Pfam:Galactosyl_T	85	302	1.3e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174609

SMART Domains

Protein: ENSMUSP00000138296
Gene: ENSMUSG00000008668

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S13	14	107	2.1e-21	PFAM

Meta Mutation Damage Score

0.0609

Coding Region Coverage

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

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	T	5: 113,703,781	C92*	probably null	Het
A830018L16Rik	G	T	1: 11,545,267	E155*	probably null	Het
Acaa1a	A	T	9: 119,349,352		probably null	Het
Adcy4	T	C	14: 55,778,699	D387G	probably damaging	Het
Adcy4	T	C	14: 55,771,378	E864G	probably null	Het
Ank1	C	T	8: 23,098,939	H574Y	probably damaging	Het
Arhgef16	C	T	4: 154,287,038	E233K	probably damaging	Het
Arhgef26	A	T	3: 62,448,104	Y699F	probably benign	Het
BB014433	C	T	8: 15,042,101	V251M	probably damaging	Het
Bcan	G	A	3: 87,994,222	A391V	probably benign	Het
Bod1l	A	C	5: 41,816,867	V2368G	probably benign	Het
Braf	A	G	6: 39,662,151	V222A	probably damaging	Het
Cd33	G	T	7: 43,533,447		probably benign	Het
Cdkl2	T	A	5: 92,022,151	K324N	probably damaging	Het
Celf6	A	T	9: 59,602,871	T199S	probably damaging	Het
Cmtm4	A	C	8: 104,355,166	D196E	probably benign	Het
Cntn1	G	A	15: 92,234,466	V148M	probably damaging	Het
Col1a2	C	A	6: 4,535,451	P921H	unknown	Het
Crmp1	T	C	5: 37,242,146	M1T	probably null	Het
Dnah7a	A	T	1: 53,504,103	Y2303N	probably damaging	Het
Dock10	G	T	1: 80,574,171	T650K	probably benign	Het
Fam24a	A	G	7: 131,336,540	D53G	probably benign	Het
Foxa2	A	T	2: 148,044,706	M69K	probably benign	Het
Gatad2a	T	A	8: 69,909,935	H601L	probably damaging	Het
Gimap4	A	C	6: 48,690,605	D98A	probably damaging	Het
Gm14295	G	T	2: 176,809,830	R371L	possibly damaging	Het
Gm5039	A	G	12: 88,321,400	F28L	probably benign	Het
Golim4	G	T	3: 75,878,128	A652E	probably benign	Het
Grid1	A	G	14: 35,026,942	I240V	probably benign	Het
Iqsec3	T	A	6: 121,413,313	T400S	unknown	Het
Itk	G	A	11: 46,334,908	R539C	probably damaging	Het
Kdelc1	G	T	1: 44,112,764	L322I	possibly damaging	Het
Kif27	T	A	13: 58,326,098	D695V	possibly damaging	Het
Krt79	T	C	15: 101,931,006		probably benign	Het
Lama2	C	A	10: 27,422,714	V129L	possibly damaging	Het
Lonrf1	C	A	8: 36,229,238	E552D	possibly damaging	Het
Mpp3	A	G	11: 102,000,665	I549T	probably benign	Het
Nat1	T	C	8: 67,491,742	Y260H	probably benign	Het
Nipal2	T	A	15: 34,648,837	K69*	probably null	Het
Nlrx1	G	T	9: 44,256,941		probably benign	Het
Pde1b	C	A	15: 103,521,425	A115E	probably benign	Het
Pde4dip	A	G	3: 97,766,494	Y369H	probably damaging	Het
Pnpla7	A	G	2: 25,053,419	Y1286C	possibly damaging	Het
Pramel5	T	C	4: 144,272,959	E186G	possibly damaging	Het
Qdpr	C	T	5: 45,450,044	G20D	probably damaging	Het
Rmnd1	T	G	10: 4,407,918	I364L	probably benign	Het
Slc5a4a	A	T	10: 76,186,535	E568V	probably benign	Het
Slc6a18	T	A	13: 73,668,271	I330F	probably benign	Het
Spesp1	T	C	9: 62,273,270	T119A	possibly damaging	Het
Sypl	G	A	12: 32,975,663	S242N	probably benign	Het
Tbx18	G	A	9: 87,730,717	T43M	probably benign	Het
Tm7sf2	T	A	19: 6,063,926	D263V	probably damaging	Het
Trbv21	T	C	6: 41,202,990	I80T	probably damaging	Het
Ttc3	T	A	16: 94,427,808	L747Q	possibly damaging	Het
Ttll11	T	C	2: 35,817,801	D498G	possibly damaging	Het
Ttn	T	C	2: 76,753,370	Y22431C	probably null	Het
Ubtfl1	T	A	9: 18,410,341	S388R		Het
Vmn2r118	A	T	17: 55,610,835	L226I	possibly damaging	Het
Zfp426	A	G	9: 20,475,000	F62L	probably damaging	Het

Other mutations in Wdr46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0147:Wdr46	UTSW	17	33941023	missense	probably benign
R0148:Wdr46	UTSW	17	33941023	missense	probably benign
R1405:Wdr46	UTSW	17	33949083	missense	probably damaging	1.00
R1405:Wdr46	UTSW	17	33949083	missense	probably damaging	1.00
R2085:Wdr46	UTSW	17	33941451	nonsense	probably null
R4319:Wdr46	UTSW	17	33940744	missense	probably benign	0.04
R4368:Wdr46	UTSW	17	33941146	unclassified	probably benign
R4831:Wdr46	UTSW	17	33941836	missense	probably benign	0.17
R4831:Wdr46	UTSW	17	33949399	unclassified	probably benign
R5118:Wdr46	UTSW	17	33948837	missense	possibly damaging	0.65
R6211:Wdr46	UTSW	17	33944485	missense	probably damaging	1.00
R6347:Wdr46	UTSW	17	33941852	missense	probably damaging	1.00
R6529:Wdr46	UTSW	17	33949146	missense	possibly damaging	0.78
R7318:Wdr46	UTSW	17	33941885	critical splice donor site	probably null
R8699:Wdr46	UTSW	17	33948852	missense	probably damaging	1.00
R9072:Wdr46	UTSW	17	33944581	missense	probably benign	0.03
R9174:Wdr46	UTSW	17	33948694	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- CAGGATATAGGTGCTGCCAG -3'
(R):5'- AAGGGTCAACTTGGAGACCG -3'

Sequencing Primer
(F):5'- TGATCCAGACGCCAAGG -3'
(R):5'- TCGTCGTACAAATCTATCCAGTGCAG -3'

Posted On

2021-10-11