Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01472:Bzw2'

88303

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 #

IGL01472

Quality Score

Status

Chromosome

Chromosomal Location

36141834-36206922 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36159795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 185 (D185G)

Ref Sequence

ENSEMBL: ENSMUSP00000152232 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020856] [ENSMUST00000221388] [ENSMUST00000223474]

AlphaFold

Q91VK1

Predicted Effect

probably benign
Transcript: ENSMUST00000020856
AA Change: D244G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000020856
Gene: ENSMUSG00000020547
AA Change: D244G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000221388
AA Change: D185G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222055

Predicted Effect

probably benign
Transcript: ENSMUST00000223474

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	G	A	7: 119,153,759 (GRCm39)		probably null	Het
Adamts4	T	C	1: 171,080,419 (GRCm39)	F324S	probably damaging	Het
Alg10b	T	A	15: 90,111,900 (GRCm39)	L248Q	possibly damaging	Het
Antxr2	T	A	5: 98,175,358 (GRCm39)	T90S	probably benign	Het
Arhgap21	C	T	2: 20,854,392 (GRCm39)	E1657K	probably damaging	Het
Atp13a5	T	G	16: 29,094,175 (GRCm39)	D803A	probably damaging	Het
Camta2	A	G	11: 70,574,950 (GRCm39)	S62P	probably damaging	Het
Cep85	T	C	4: 133,861,477 (GRCm39)	Q599R	possibly damaging	Het
Chsy3	G	A	18: 59,309,439 (GRCm39)	V231I	probably damaging	Het
Cnbd2	C	T	2: 156,217,268 (GRCm39)	R457W	probably damaging	Het
Col20a1	A	G	2: 180,649,625 (GRCm39)	T1036A	probably benign	Het
Colgalt2	T	C	1: 152,382,629 (GRCm39)	Y494H	probably damaging	Het
Cox15	G	T	19: 43,732,104 (GRCm39)	Y237*	probably null	Het
Cpne9	C	A	6: 113,269,983 (GRCm39)	S281Y	possibly damaging	Het
D830013O20Rik	G	A	12: 73,411,090 (GRCm39)		noncoding transcript	Het
Dnah5	C	T	15: 28,331,872 (GRCm39)	R2153C	probably damaging	Het
Fam228a	A	G	12: 4,765,610 (GRCm39)	I267T	possibly damaging	Het
Fat4	G	A	3: 38,942,219 (GRCm39)	A371T	probably damaging	Het
Gm1818	T	C	12: 48,603,072 (GRCm39)		noncoding transcript	Het
Gm5592	T	C	7: 40,935,498 (GRCm39)		probably benign	Het
Golga4	C	A	9: 118,361,642 (GRCm39)	L207I	probably damaging	Het
Gtf3c1	A	G	7: 125,250,226 (GRCm39)		probably benign	Het
Hao1	C	T	2: 134,396,150 (GRCm39)	E35K	probably benign	Het
Iqch	T	C	9: 63,455,216 (GRCm39)	I194V	probably benign	Het
Ism1	A	T	2: 139,599,223 (GRCm39)	T392S	probably damaging	Het
Lcmt1	A	G	7: 123,027,376 (GRCm39)	Y313C	probably damaging	Het
Loxl4	A	G	19: 42,585,988 (GRCm39)	C718R	probably damaging	Het
Lyar	T	G	5: 38,382,066 (GRCm39)	I16R	possibly damaging	Het
Map3k20	T	C	2: 72,185,897 (GRCm39)		probably benign	Het
Mtus1	T	C	8: 41,455,449 (GRCm39)	T941A	probably benign	Het
Myh8	A	G	11: 67,179,205 (GRCm39)		probably benign	Het
Myof	T	C	19: 37,911,524 (GRCm39)	D1482G	probably benign	Het
Nr4a3	C	A	4: 48,071,133 (GRCm39)	A534D	probably damaging	Het
Oas1c	A	G	5: 120,940,986 (GRCm39)	V269A	probably damaging	Het
Odf2	T	A	2: 29,783,071 (GRCm39)	S5T	probably damaging	Het
Or5d36	T	A	2: 87,901,322 (GRCm39)	T135S	possibly damaging	Het
Or5p4	T	C	7: 107,680,411 (GRCm39)	S137P	probably benign	Het
Or9s27	T	A	1: 92,516,694 (GRCm39)	M214K	possibly damaging	Het
Pbk	A	G	14: 66,054,159 (GRCm39)	T235A	probably benign	Het
Phrf1	T	C	7: 140,836,403 (GRCm39)		probably benign	Het
Prkci	A	G	3: 31,104,341 (GRCm39)	D568G	probably damaging	Het
Prom2	T	A	2: 127,374,802 (GRCm39)	Y578F	probably benign	Het
Prph	T	C	15: 98,956,474 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,502,593 (GRCm39)	V3527A	probably benign	Het
Scn10a	C	T	9: 119,446,829 (GRCm39)	V1400I	probably damaging	Het
Slc10a2	A	G	8: 5,141,652 (GRCm39)	L244P	probably damaging	Het
Tardbp	A	G	4: 148,706,521 (GRCm39)	V96A	probably benign	Het
Tbc1d4	C	A	14: 101,727,300 (GRCm39)	E504*	probably null	Het
Tmed3	T	C	9: 89,584,928 (GRCm39)	E109G	probably benign	Het
Tnc	C	T	4: 63,924,656 (GRCm39)	R1014H	probably benign	Het
Tpcn2	C	T	7: 144,821,115 (GRCm39)	R313Q	probably damaging	Het
Trim45	A	G	3: 100,835,381 (GRCm39)	T455A	probably benign	Het
Txlna	A	G	4: 129,525,908 (GRCm39)	I313T	probably damaging	Het
Vmn1r202	A	T	13: 22,686,159 (GRCm39)	I86K	possibly damaging	Het
Vmn2r14	C	A	5: 109,364,180 (GRCm39)	E579*	probably null	Het
Wrn	T	A	8: 33,819,200 (GRCm39)	I8F	possibly damaging	Het
Zc3h18	A	G	8: 123,143,396 (GRCm39)		probably benign	Het
Zfyve26	A	T	12: 79,323,117 (GRCm39)	H876Q	probably benign	Het
Znrf2	C	T	6: 54,840,957 (GRCm39)	T177I	probably damaging	Het

Other mutations in Bzw2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01731:Bzw2	APN	12	36,157,647 (GRCm39)	splice site	probably null
IGL02071:Bzw2	APN	12	36,157,502 (GRCm39)	missense	probably benign	0.26
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

2013-11-18