Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00583:Bzw1'

13332

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bzw1

Ensembl Gene

ENSMUSG00000051223

Gene Name

basic leucine zipper and W2 domains 1

Synonyms

1200015E15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00583

Quality Score

Status

Chromosome

Chromosomal Location

58432057-58446512 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 58440494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050552] [ENSMUST00000186949] [ENSMUST00000188630] [ENSMUST00000188898]

AlphaFold

Q9CQC6

Predicted Effect

probably benign
Transcript: ENSMUST00000050552

SMART Domains

Protein: ENSMUSP00000051935
Gene: ENSMUSG00000051223

Domain	Start	End	E-Value	Type
eIF5C	325	410	3.75e-37	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186949

SMART Domains

Protein: ENSMUSP00000140319
Gene: ENSMUSG00000051223

Domain	Start	End	E-Value	Type
low complexity region	3	25	N/A	INTRINSIC
eIF5C	357	442	1.8e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188630

Predicted Effect

probably benign
Transcript: ENSMUST00000188898

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	C	T	13: 104,433,726 (GRCm39)	Q52*	probably null	Het
Ambp	G	T	4: 63,072,255 (GRCm39)	A13D	possibly damaging	Het
Angptl3	A	G	4: 98,923,077 (GRCm39)	T283A	probably damaging	Het
Atp13a5	A	T	16: 29,094,205 (GRCm39)		probably benign	Het
Borcs8	A	G	8: 70,597,757 (GRCm39)	H93R	probably benign	Het
Cd200	A	C	16: 45,217,472 (GRCm39)	I73R	probably damaging	Het
Coq8a	T	C	1: 179,995,954 (GRCm39)	D528G	probably benign	Het
Edem1	T	A	6: 108,832,520 (GRCm39)		probably benign	Het
Enpp5	C	T	17: 44,396,088 (GRCm39)		probably benign	Het
Eprs1	G	T	1: 185,139,345 (GRCm39)	C910F	probably benign	Het
Erich6	T	C	3: 58,544,464 (GRCm39)	E41G	unknown	Het
Gls2	A	G	10: 128,040,751 (GRCm39)	M340V	probably benign	Het
Gna12	A	T	5: 140,746,773 (GRCm39)	V224E	probably damaging	Het
Golph3l	T	C	3: 95,496,414 (GRCm39)	L46P	possibly damaging	Het
Limch1	T	C	5: 67,111,022 (GRCm39)	I83T	probably damaging	Het
Mas1	T	C	17: 13,060,852 (GRCm39)	I190M	possibly damaging	Het
Mefv	T	A	16: 3,533,936 (GRCm39)	K112*	probably null	Het
Oas1e	T	A	5: 120,932,337 (GRCm39)	E102V	probably damaging	Het
Pde6a	T	C	18: 61,390,339 (GRCm39)	C521R	probably damaging	Het
Pigw	A	G	11: 84,768,714 (GRCm39)	V205A	possibly damaging	Het
Ptpn21	G	A	12: 98,699,860 (GRCm39)	S18F	probably damaging	Het
Shprh	C	T	10: 11,063,764 (GRCm39)	T1279I	probably benign	Het
Slc11a2	T	C	15: 100,295,618 (GRCm39)	E501G	probably benign	Het
Sult2a3	T	A	7: 13,856,905 (GRCm39)	Y5F	probably benign	Het
Tll1	A	G	8: 64,658,326 (GRCm39)	L31P	probably benign	Het
Tubgcp3	G	A	8: 12,671,906 (GRCm39)	Q779*	probably null	Het
U2surp	T	A	9: 95,343,577 (GRCm39)		probably benign	Het

Other mutations in Bzw1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Bzw1	APN	1	58,442,101 (GRCm39)	missense	possibly damaging	0.56
IGL00816:Bzw1	APN	1	58,438,213 (GRCm39)	missense	probably damaging	1.00
IGL01625:Bzw1	APN	1	58,440,599 (GRCm39)	missense	probably benign	0.42
R1138:Bzw1	UTSW	1	58,440,545 (GRCm39)	missense	probably damaging	1.00
R1229:Bzw1	UTSW	1	58,433,378 (GRCm39)	missense	probably benign	0.45
R1272:Bzw1	UTSW	1	58,436,979 (GRCm39)	missense	probably damaging	1.00
R1837:Bzw1	UTSW	1	58,439,277 (GRCm39)	missense	probably damaging	1.00
R4491:Bzw1	UTSW	1	58,443,418 (GRCm39)	missense	probably damaging	1.00
R5525:Bzw1	UTSW	1	58,442,065 (GRCm39)	missense	possibly damaging	0.77
R5641:Bzw1	UTSW	1	58,436,883 (GRCm39)	missense	probably damaging	0.98
R7794:Bzw1	UTSW	1	58,439,959 (GRCm39)	missense	probably benign	0.00
R8214:Bzw1	UTSW	1	58,444,196 (GRCm39)	missense	probably damaging	0.97
R9077:Bzw1	UTSW	1	58,438,190 (GRCm39)	missense	probably benign	0.00
X0050:Bzw1	UTSW	1	58,440,621 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06