Mutagenetix > Incidental Mutation

Incidental Mutation 'R1405:Wdr46'

188714

Institutional Source

Beutler Lab

Gene Symbol

Wdr46

Ensembl Gene

ENSMUSG00000024312

Gene Name

WD repeat domain 46

Synonyms

2310007I04Rik, Bing4

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R1405 (G1)

Quality Score

131

Status

Not validated

Chromosome

Chromosomal Location

34159634-34168671 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34168057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 543 (P543Q)

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 damaging
Transcript: ENSMUST00000025170
AA Change: P543Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000025170
Gene: ENSMUSG00000024312
AA Change: P543Q

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

noncoding transcript
Transcript: ENSMUST00000172799

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173323

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174175

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174758

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174745

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	G	A	4: 53,059,253 (GRCm39)		probably benign	Het
AC163020.1	A	G	7: 46,959,305 (GRCm39)	S229P	possibly damaging	Het
Arap1	G	A	7: 101,047,643 (GRCm39)		probably null	Het
Asb8	G	A	15: 98,039,248 (GRCm39)	H51Y	possibly damaging	Het
Capn10	T	G	1: 92,872,744 (GRCm39)	V490G	probably benign	Het
Ccdc138	T	A	10: 58,380,939 (GRCm39)		probably benign	Het
Ccdc146	G	A	5: 21,604,730 (GRCm39)	S36L	probably benign	Het
Celsr1	C	T	15: 85,789,635 (GRCm39)		probably null	Het
Clvs2	C	A	10: 33,389,256 (GRCm39)	*328L	probably null	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
D6Wsu163e	G	A	6: 126,951,446 (GRCm39)		probably benign	Het
Dstn	A	G	2: 143,780,356 (GRCm39)	K19E	probably damaging	Het
Ehmt2	T	A	17: 35,125,553 (GRCm39)	H134Q	probably benign	Het
Faah	G	A	4: 115,858,345 (GRCm39)	P411S	probably damaging	Het
Fn1	A	G	1: 71,681,237 (GRCm39)	F364L	probably damaging	Het
Gm5828	T	C	1: 16,839,768 (GRCm39)		noncoding transcript	Het
Gmnc	A	T	16: 26,779,196 (GRCm39)	N270K	possibly damaging	Het
Grip2	A	T	6: 91,765,133 (GRCm39)		probably null	Het
Hmg20a	A	T	9: 56,384,587 (GRCm39)	Q119L	possibly damaging	Het
Ipo7	T	C	7: 109,629,048 (GRCm39)	I106T	probably benign	Het
Ipo7	C	T	7: 109,638,456 (GRCm39)	P241L	probably damaging	Het
Katnb1	T	C	8: 95,824,801 (GRCm39)	Y574H	probably damaging	Het
Larp6	A	C	9: 60,644,849 (GRCm39)	M330L	probably benign	Het
Lrrc8e	T	C	8: 4,281,754 (GRCm39)	Y30H	probably damaging	Het
Nav3	A	T	10: 109,606,194 (GRCm39)		probably benign	Het
Nop56	T	C	2: 130,119,868 (GRCm39)	V420A	probably benign	Het
Nrg1	T	C	8: 32,407,855 (GRCm39)	D126G	probably benign	Het
Prdm1	T	A	10: 44,315,961 (GRCm39)	N725I	probably damaging	Het
Prl3a1	A	G	13: 27,459,051 (GRCm39)		probably null	Het
Psmd2	T	C	16: 20,471,034 (GRCm39)	L59P	possibly damaging	Het
Ptgdr2	T	C	19: 10,918,395 (GRCm39)	V304A	probably benign	Het
Ptp4a2	T	A	4: 129,738,851 (GRCm39)		probably benign	Het
Rasa3	A	G	8: 13,638,027 (GRCm39)	V339A	possibly damaging	Het
Sec24c	G	A	14: 20,742,593 (GRCm39)		probably null	Het
Serpinb9e	A	G	13: 33,444,009 (GRCm39)	D343G	probably benign	Het
Sptbn5	A	T	2: 119,881,097 (GRCm39)		noncoding transcript	Het
Stab1	A	C	14: 30,870,958 (GRCm39)	V1297G	probably benign	Het
Stk4	C	T	2: 163,942,448 (GRCm39)	T360M	probably benign	Het
Tafa5	C	T	15: 87,565,678 (GRCm39)		probably benign	Het
Tmprss2	G	A	16: 97,398,005 (GRCm39)	T57I	probably benign	Het
Tnrc6a	A	G	7: 122,770,301 (GRCm39)	D697G	probably damaging	Het
Vwa5b2	T	A	16: 20,423,066 (GRCm39)	D1021E	probably benign	Het
Zfp1005	T	A	2: 150,109,620 (GRCm39)	Y103*	probably null	Het
Zfp287	T	A	11: 62,619,137 (GRCm39)	D119V	probably damaging	Het
Zxdc	A	G	6: 90,361,225 (GRCm39)	S737G	possibly damaging	Het

Other mutations in Wdr46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0147:Wdr46	UTSW	17	34,159,997 (GRCm39)	missense	probably benign
R0148:Wdr46	UTSW	17	34,159,997 (GRCm39)	missense	probably benign
R1405:Wdr46	UTSW	17	34,168,057 (GRCm39)	missense	probably damaging	1.00
R2085:Wdr46	UTSW	17	34,160,425 (GRCm39)	nonsense	probably null
R4319:Wdr46	UTSW	17	34,159,718 (GRCm39)	missense	probably benign	0.04
R4368:Wdr46	UTSW	17	34,160,120 (GRCm39)	unclassified	probably benign
R4831:Wdr46	UTSW	17	34,168,373 (GRCm39)	unclassified	probably benign
R4831:Wdr46	UTSW	17	34,160,810 (GRCm39)	missense	probably benign	0.17
R5118:Wdr46	UTSW	17	34,167,811 (GRCm39)	missense	possibly damaging	0.65
R6211:Wdr46	UTSW	17	34,163,459 (GRCm39)	missense	probably damaging	1.00
R6347:Wdr46	UTSW	17	34,160,826 (GRCm39)	missense	probably damaging	1.00
R6529:Wdr46	UTSW	17	34,168,120 (GRCm39)	missense	possibly damaging	0.78
R7318:Wdr46	UTSW	17	34,160,859 (GRCm39)	critical splice donor site	probably null
R8699:Wdr46	UTSW	17	34,167,826 (GRCm39)	missense	probably damaging	1.00
R8993:Wdr46	UTSW	17	34,168,156 (GRCm39)	missense	probably benign	0.00
R9072:Wdr46	UTSW	17	34,163,555 (GRCm39)	missense	probably benign	0.03
R9174:Wdr46	UTSW	17	34,167,668 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- CGTCATTACAAGTGTGAGAGGCCG -3'
(R):5'- CACTGAGCATAGGCTGATAAGGCTG -3'

Sequencing Primer
(F):5'- GTTTGGAGAATAACCCATACCG -3'
(R):5'- TCTTCACTAGGCTCGCCGTA -3'

Posted On

2014-05-09