Mutagenetix > Incidental Mutation

Incidental Mutation 'R1229:Bzw1'

172425

Institutional Source

Beutler Lab

Gene Symbol

Bzw1

Ensembl Gene

ENSMUSG00000051223

Gene Name

basic leucine zipper and W2 domains 1

Synonyms

1200015E15Rik

MMRRC Submission

039298-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1229 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58432057-58446512 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58433378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 35 (N35S)

Ref Sequence

ENSEMBL: ENSMUSP00000140319 (fasta)

Gene Model

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

AlphaFold

Q9CQC6

Predicted Effect

probably benign
Transcript: ENSMUST00000050552
AA Change: N3S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000051935
Gene: ENSMUSG00000051223
AA Change: N3S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000186949
AA Change: N35S

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140319
Gene: ENSMUSG00000051223
AA Change: N35S

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
AA Change: N3S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

unknown
Transcript: ENSMUST00000188898
AA Change: N3S

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid1a	A	C	4: 133,418,548 (GRCm39)	L1012V	unknown	Het
Ccdc93	A	G	1: 121,362,371 (GRCm39)	D51G	probably damaging	Het
Dnah1	A	T	14: 31,032,808 (GRCm39)	M409K	probably benign	Het
Fam13b	C	T	18: 34,578,636 (GRCm39)	M705I	probably benign	Het
Gm1110	T	C	9: 26,793,102 (GRCm39)	Y558C	probably benign	Het
Iqgap2	A	G	13: 95,768,673 (GRCm39)	I1409T	probably benign	Het
Mfsd11	T	C	11: 116,764,123 (GRCm39)	F368S	probably damaging	Het
Neb	C	A	2: 52,133,955 (GRCm39)	V3343F	probably damaging	Het
Nrp1	T	G	8: 129,145,197 (GRCm39)	Y84*	probably null	Het
Or4n5	G	A	14: 50,132,711 (GRCm39)	Q183*	probably null	Het
Pate2	T	A	9: 35,580,991 (GRCm39)	F2I	probably damaging	Het
Pla2r1	T	A	2: 60,365,106 (GRCm39)	T155S	probably benign	Het
Slc28a2	T	A	2: 122,291,012 (GRCm39)	C659*	probably null	Het
Tram1	T	C	1: 13,639,776 (GRCm39)	R324G	probably damaging	Het
Wdr19	A	T	5: 65,413,734 (GRCm39)	I1226F	possibly damaging	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
IGL00583:Bzw1	APN	1	58,440,494 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TGGAGAGGGAAACTTACCTGCACC -3'
(R):5'- TCCCAGACCTATGCCATGTGAGAC -3'

Sequencing Primer
(F):5'- CCTCTCTATTGCCTGTTAACTGAAAG -3'
(R):5'- agaaagaaagaaaTTTGAGAAAGCAG -3'

Posted On

2014-04-24