Mutagenetix > Incidental Mutation

Incidental Mutation 'R4353:Bzw2'

327423

Institutional Source

Beutler Lab

Gene Symbol

Bzw2

Ensembl Gene

ENSMUSG00000020547

Gene Name

basic leucine zipper and W2 domains 2

Synonyms

1110001I24Rik, HSPC028

MMRRC Submission

040866-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4353 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36141834-36206922 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36173978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 99 (F99I)

Ref Sequence

ENSEMBL: ENSMUSP00000152263 (fasta)

Gene Model

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

AlphaFold

Q91VK1

Predicted Effect

probably damaging
Transcript: ENSMUST00000020856
AA Change: F99I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020856
Gene: ENSMUSG00000020547
AA Change: F99I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000220828
AA Change: F99I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000221388
AA Change: F40I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222279

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222842

Predicted Effect

probably damaging
Transcript: ENSMUST00000223382
AA Change: F99I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223474
AA Change: F99I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Alpk2	C	T	18: 65,424,523 (GRCm39)	R1888H	possibly damaging	Het
Arhgap33	C	A	7: 30,223,561 (GRCm39)	V823L	possibly damaging	Het
Atp2b2	T	C	6: 113,742,745 (GRCm39)	I736V	probably benign	Het
Atp8a1	T	C	5: 67,926,451 (GRCm39)	T260A	probably damaging	Het
B4galnt3	T	C	6: 120,192,437 (GRCm39)	E433G	possibly damaging	Het
Cdh20	A	G	1: 104,906,814 (GRCm39)	D547G	probably damaging	Het
Col27a1	G	T	4: 63,143,868 (GRCm39)	A519S	probably benign	Het
Coq6	G	A	12: 84,414,923 (GRCm39)	G110D	probably damaging	Het
Cpb1	T	C	3: 20,316,708 (GRCm39)	T281A	probably benign	Het
Cttnbp2	T	C	6: 18,514,703 (GRCm39)	D11G	probably benign	Het
Cyp2c37	A	G	19: 39,988,989 (GRCm39)	Y316C	possibly damaging	Het
Dcdc2a	T	A	13: 25,240,474 (GRCm39)	I74N	probably damaging	Het
Dhx9	A	G	1: 153,347,535 (GRCm39)	L391P	probably damaging	Het
Dsc2	G	T	18: 20,183,125 (GRCm39)	L98I	probably damaging	Het
Dthd1	T	A	5: 63,000,210 (GRCm39)	S511T	probably benign	Het
Dusp2	A	G	2: 127,179,256 (GRCm39)	T204A	probably damaging	Het
Elovl5	T	C	9: 77,868,199 (GRCm39)	V37A	probably benign	Het
Etv1	A	G	12: 38,907,105 (GRCm39)	E369G	probably damaging	Het
Gem	G	A	4: 11,705,939 (GRCm39)	R9H	probably damaging	Het
Heg1	A	G	16: 33,530,847 (GRCm39)	T108A	probably benign	Het
Inava	C	T	1: 136,153,946 (GRCm39)	V180I	probably damaging	Het
Iqgap2	C	T	13: 95,807,904 (GRCm39)	V788M	probably damaging	Het
Kyat3	T	C	3: 142,437,054 (GRCm39)		probably null	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Mecom	C	A	3: 30,020,887 (GRCm39)	V452L	possibly damaging	Het
Meis2	A	G	2: 115,890,044 (GRCm39)	M146T	probably damaging	Het
Nrp2	A	G	1: 62,777,576 (GRCm39)	D127G	probably damaging	Het
Nt5el	T	C	13: 105,255,253 (GRCm39)	Y445H	probably benign	Het
Nup214	T	C	2: 31,867,929 (GRCm39)		probably null	Het
Or2h1b	T	A	17: 37,462,228 (GRCm39)	I58F	probably damaging	Het
Pabpc4	C	T	4: 123,184,060 (GRCm39)	T191I	probably damaging	Het
Pcnx2	T	C	8: 126,489,590 (GRCm39)	H1668R	probably damaging	Het
Poln	C	T	5: 34,286,796 (GRCm39)	C124Y	probably benign	Het
Ppp2r2a	T	A	14: 67,266,386 (GRCm39)	I92L	probably damaging	Het
Prb1b	T	G	6: 132,290,624 (GRCm39)	Y25S	unknown	Het
Ptch1	C	T	13: 63,682,143 (GRCm39)	R537H	probably damaging	Het
Rnf130	T	C	11: 49,978,267 (GRCm39)	V276A	possibly damaging	Het
Rnf31	AAC	A	14: 55,838,555 (GRCm39)		probably null	Het
Rnf38	A	T	4: 44,149,100 (GRCm39)	N82K	possibly damaging	Het
Scn7a	T	A	2: 66,506,780 (GRCm39)	M1370L	probably benign	Het
Sema4b	C	A	7: 79,865,399 (GRCm39)	L125I	probably damaging	Het
Slc12a7	C	T	13: 73,938,853 (GRCm39)	T210I	possibly damaging	Het
Sox8	A	C	17: 25,786,309 (GRCm39)	*465G	probably null	Het
Spg11	G	T	2: 121,943,675 (GRCm39)	T159K	possibly damaging	Het
Stk36	A	G	1: 74,671,966 (GRCm39)	R889G	possibly damaging	Het
Tmbim7	A	G	5: 3,711,796 (GRCm39)	S14G	probably benign	Het
Usp16	A	G	16: 87,267,242 (GRCm39)	N211D	probably damaging	Het
Vmn1r6	C	T	6: 56,979,677 (GRCm39)	A113V	possibly damaging	Het
Zc3h14	A	G	12: 98,730,219 (GRCm39)	N92D	possibly damaging	Het
Zfp638	T	C	6: 83,961,041 (GRCm39)	S1206P	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CCTGAAGCCTTGTAGATAAGGGG -3'
(R):5'- TGACACATGCGCATCCAATG -3'

Sequencing Primer
(F):5'- TCCACTAGGAATGCAACTGTG -3'
(R):5'- ACATCTACTCCTCAGGGTT -3'

Posted On

2015-07-07