Mutagenetix > Incidental Mutation

Incidental Mutation 'R8363:Bzw2'

646065

Institutional Source

Beutler Lab

Gene Symbol

Bzw2

Ensembl Gene

ENSMUSG00000020547

Gene Name

basic leucine zipper and W2 domains 2

Synonyms

1110001I24Rik, HSPC028

MMRRC Submission

067654-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8363 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36141834-36206922 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36180122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 35 (V35A)

Ref Sequence

ENSEMBL: ENSMUSP00000020856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020856] [ENSMUST00000220763] [ENSMUST00000220828] [ENSMUST00000221388] [ENSMUST00000223382] [ENSMUST00000223474]

AlphaFold

Q91VK1

Predicted Effect

probably benign
Transcript: ENSMUST00000020856
AA Change: V35A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000020856
Gene: ENSMUSG00000020547
AA Change: V35A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000220763
AA Change: V35A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000220828
AA Change: V35A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000221388

Predicted Effect

probably benign
Transcript: ENSMUST00000223382
AA Change: V35A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000223474
AA Change: V35A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,055,800 (GRCm39)	I375L		Het
Adamts18	C	T	8: 114,493,795 (GRCm39)	G448D	probably damaging	Het
C2cd4d	C	T	3: 94,271,157 (GRCm39)	T141M	probably benign	Het
Chchd4	T	A	6: 91,444,737 (GRCm39)	K17*	probably null	Het
Cmas	C	T	6: 142,702,554 (GRCm39)	P19L	probably benign	Het
Colec10	A	G	15: 54,274,238 (GRCm39)	H22R	probably benign	Het
D630045J12Rik	T	C	6: 38,125,376 (GRCm39)	D1546G	probably damaging	Het
Dgki	A	T	6: 36,993,613 (GRCm39)	C583S	probably damaging	Het
Dhrs13	G	T	11: 77,925,343 (GRCm39)	V205L	probably damaging	Het
Eif4a3l1	T	G	6: 136,306,453 (GRCm39)	S305A	probably benign	Het
Eppk1	C	T	15: 75,994,319 (GRCm39)	R854Q	probably benign	Het
Erc1	T	C	6: 119,730,260 (GRCm39)	D612G	probably benign	Het
Fam163b	G	A	2: 27,002,650 (GRCm39)	R116C	probably benign	Het
Gm5160	T	C	18: 14,557,929 (GRCm39)	V2A	possibly damaging	Het
Gm8247	A	T	14: 44,823,919 (GRCm39)	I202F		Het
Gnpat	T	C	8: 125,590,038 (GRCm39)	V21A	probably benign	Het
Igfn1	A	T	1: 135,891,625 (GRCm39)	S2297T	probably benign	Het
Igkv13-85	A	G	6: 68,907,269 (GRCm39)	Y111H	probably damaging	Het
Il17rd	A	G	14: 26,813,906 (GRCm39)	N206D	probably damaging	Het
Il1r2	G	A	1: 40,160,095 (GRCm39)	V272M	probably damaging	Het
Ivl	T	A	3: 92,479,525 (GRCm39)	H180L	possibly damaging	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Kirrel2	A	G	7: 30,152,968 (GRCm39)	V350A	probably damaging	Het
Mcpt4	A	G	14: 56,299,692 (GRCm39)	S14P	probably damaging	Het
Mdm2	A	G	10: 117,526,239 (GRCm39)	V449A	probably damaging	Het
Mga	T	C	2: 119,794,407 (GRCm39)	V2697A	probably benign	Het
Mlxipl	T	C	5: 135,135,930 (GRCm39)	F52L	probably benign	Het
Mtarc2	A	G	1: 184,566,055 (GRCm39)		probably null	Het
Ndst3	T	C	3: 123,350,517 (GRCm39)	S623G	possibly damaging	Het
Oas1a	C	T	5: 121,043,902 (GRCm39)	A77T	probably damaging	Het
Or4d1	A	T	11: 87,805,069 (GRCm39)	I221N	probably damaging	Het
Or9a2	T	C	6: 41,748,684 (GRCm39)	Q183R	probably benign	Het
P3h2	A	G	16: 25,811,468 (GRCm39)	F252L	probably damaging	Het
Psme4	A	G	11: 30,762,139 (GRCm39)	D493G	probably damaging	Het
Rab3ip	A	C	10: 116,754,869 (GRCm39)	I229S	probably damaging	Het
Ralgapb	T	C	2: 158,268,119 (GRCm39)	L74P	probably damaging	Het
Scn1a	G	T	2: 66,152,601 (GRCm39)	N804K	probably damaging	Het
Slc22a6	A	T	19: 8,596,386 (GRCm39)	H124L	probably benign	Het
Slc6a6	A	G	6: 91,727,277 (GRCm39)	I492V	probably benign	Het
Snx2	G	T	18: 53,330,936 (GRCm39)	E134*	probably null	Het
Stt3b	A	G	9: 115,083,988 (GRCm39)	I396T	probably damaging	Het
Tcp11	A	G	17: 28,288,221 (GRCm39)	S415P	possibly damaging	Het
Vmn2r67	A	T	7: 84,804,969 (GRCm39)	S48T	probably benign	Het
Vps16	T	A	2: 130,284,161 (GRCm39)	F665L	probably benign	Het
Wdhd1	A	T	14: 47,513,989 (GRCm39)	D22E	probably damaging	Het
Zng1	A	T	19: 24,920,091 (GRCm39)	H175Q	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTCATGCACACTATAAGAAAATGCC -3'
(R):5'- TAGCCTAGCCTACAAATGATGAC -3'

Sequencing Primer
(F):5'- TGCCAAACCATATGGCTTACC -3'
(R):5'- ACTTAAAATGCTAGGTGGCCTTG -3'

Posted On

2020-09-02