Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02071:Bzw2'

185821

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bzw2

Ensembl Gene

ENSMUSG00000020547

Gene Name

basic leucine zipper and W2 domains 2

Synonyms

1110001I24Rik, HSPC028

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02071

Quality Score

Status

Chromosome

Chromosomal Location

36141834-36206922 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36157502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 321 (H321R)

Ref Sequence

ENSEMBL: ENSMUSP00000020856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020856] [ENSMUST00000221388]

AlphaFold

Q91VK1

Predicted Effect

probably benign
Transcript: ENSMUST00000020856
AA Change: H321R

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020856
Gene: ENSMUSG00000020547
AA Change: H321R

Domain	Start	End	E-Value	Type
eIF5C	326	411	3.29e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000221388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222055

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,400,676 (GRCm39)	R92C	probably damaging	Het
Adam29	C	A	8: 56,324,589 (GRCm39)	V622L	possibly damaging	Het
C2cd2	C	T	16: 97,671,432 (GRCm39)	R489Q	probably damaging	Het
Cdh23	G	A	10: 60,359,339 (GRCm39)	T253I	possibly damaging	Het
Col4a3	T	G	1: 82,638,608 (GRCm39)		probably null	Het
D630039A03Rik	T	C	4: 57,910,309 (GRCm39)	T168A	possibly damaging	Het
Dnajc19	A	G	3: 34,132,914 (GRCm39)	L97P	possibly damaging	Het
Dpep2	A	T	8: 106,711,776 (GRCm39)	H550Q	probably benign	Het
Dvl2	C	A	11: 69,895,626 (GRCm39)		probably null	Het
Fam234b	A	G	6: 135,204,149 (GRCm39)		probably null	Het
Fxyd5	A	G	7: 30,739,613 (GRCm39)	V32A	possibly damaging	Het
Itprid1	C	A	6: 55,944,710 (GRCm39)	S477*	probably null	Het
Mak16	A	T	8: 31,650,557 (GRCm39)	S251T	probably benign	Het
Med10	T	C	13: 69,963,747 (GRCm39)	V116A	probably benign	Het
Mycbp2	G	A	14: 103,392,343 (GRCm39)	R50*	probably null	Het
Nckap5	G	A	1: 125,909,305 (GRCm39)	P272L	probably damaging	Het
Nf1	T	A	11: 79,334,947 (GRCm39)	V933E	possibly damaging	Het
Nrxn2	T	A	19: 6,531,783 (GRCm39)	V749E	probably damaging	Het
Or51e2	A	C	7: 102,391,355 (GRCm39)	V285G	probably damaging	Het
Or5al1	C	A	2: 85,990,219 (GRCm39)	R165L	probably benign	Het
Osbpl9	T	C	4: 108,929,176 (GRCm39)	Y417C	probably damaging	Het
Otop1	G	A	5: 38,445,327 (GRCm39)	A162T	probably damaging	Het
Patl1	C	A	19: 11,917,054 (GRCm39)	P634T	probably damaging	Het
Ppl	A	T	16: 4,930,936 (GRCm39)	S28T	probably benign	Het
Prkar2b	C	T	12: 32,013,016 (GRCm39)	G367R	probably damaging	Het
Rbl2	G	A	8: 91,828,826 (GRCm39)	V576I	probably damaging	Het
Rgl3	C	T	9: 21,899,559 (GRCm39)	A53T	probably benign	Het
Rp1	T	A	1: 4,415,533 (GRCm39)	I1860F	possibly damaging	Het
Sbno2	A	T	10: 79,896,475 (GRCm39)	D877E	probably damaging	Het
Sectm1b	C	T	11: 120,946,761 (GRCm39)	V45I	probably damaging	Het
Sfmbt2	G	A	2: 10,582,763 (GRCm39)	V741I	probably benign	Het
Sugt1	T	A	14: 79,847,723 (GRCm39)	L191*	probably null	Het
Tcf21	A	T	10: 22,693,709 (GRCm39)	V156E	possibly damaging	Het
Tep1	T	A	14: 51,071,506 (GRCm39)	R2046S	possibly damaging	Het
Tmem181a	T	C	17: 6,347,531 (GRCm39)	F241S	probably damaging	Het
Traf6	G	A	2: 101,527,138 (GRCm39)	C296Y	probably benign	Het
Trim40	A	G	17: 37,200,070 (GRCm39)	S3P	probably benign	Het
Ttll2	A	T	17: 7,619,130 (GRCm39)	Y266N	probably damaging	Het
Vps54	A	G	11: 21,225,071 (GRCm39)	N177S	probably null	Het

Other mutations in Bzw2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Bzw2	APN	12	36,159,795 (GRCm39)	missense	probably damaging	1.00
IGL01731:Bzw2	APN	12	36,157,647 (GRCm39)	splice site	probably null
R0003:Bzw2	UTSW	12	36,180,014 (GRCm39)	missense	probably damaging	1.00
R0462:Bzw2	UTSW	12	36,174,023 (GRCm39)	missense	probably damaging	1.00
R1615:Bzw2	UTSW	12	36,169,126 (GRCm39)	splice site	probably benign
R3121:Bzw2	UTSW	12	36,170,788 (GRCm39)	splice site	probably null
R4353:Bzw2	UTSW	12	36,173,978 (GRCm39)	missense	probably damaging	1.00
R4649:Bzw2	UTSW	12	36,173,980 (GRCm39)	missense	probably null	1.00
R5121:Bzw2	UTSW	12	36,154,350 (GRCm39)	missense	probably damaging	1.00
R6143:Bzw2	UTSW	12	36,170,725 (GRCm39)	missense	probably benign	0.42
R6408:Bzw2	UTSW	12	36,157,524 (GRCm39)	missense	possibly damaging	0.65
R7199:Bzw2	UTSW	12	36,180,054 (GRCm39)	nonsense	probably null
R7220:Bzw2	UTSW	12	36,173,950 (GRCm39)	missense	possibly damaging	0.60
R7469:Bzw2	UTSW	12	36,157,550 (GRCm39)	missense	probably damaging	0.99
R8025:Bzw2	UTSW	12	36,157,517 (GRCm39)	missense	probably damaging	1.00
R8138:Bzw2	UTSW	12	36,159,819 (GRCm39)	missense	probably benign
R8363:Bzw2	UTSW	12	36,180,122 (GRCm39)	missense	probably benign	0.01
R8833:Bzw2	UTSW	12	36,169,069 (GRCm39)	missense	probably benign	0.01
R8888:Bzw2	UTSW	12	36,173,982 (GRCm39)	nonsense	probably null
R8895:Bzw2	UTSW	12	36,173,982 (GRCm39)	nonsense	probably null
R8931:Bzw2	UTSW	12	36,184,943 (GRCm39)	missense	possibly damaging	0.66
R9377:Bzw2	UTSW	12	36,180,131 (GRCm39)	missense	probably damaging	1.00
R9494:Bzw2	UTSW	12	36,184,947 (GRCm39)	start codon destroyed	probably benign	0.21
X0027:Bzw2	UTSW	12	36,154,279 (GRCm39)	missense	probably damaging	1.00
X0066:Bzw2	UTSW	12	36,164,034 (GRCm39)	missense	probably benign	0.23

Posted On

2014-05-07