Mutagenetix > Incidental Mutation

Incidental Mutation 'R3756:Zbbx'

271429

Institutional Source

Beutler Lab

Gene Symbol

Zbbx

Ensembl Gene

ENSMUSG00000034151

Gene Name

zinc finger, B-box domain containing

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R3756 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74945214-75072341 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75012978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 151 (G151E)

Ref Sequence

ENSEMBL: ENSMUSP00000103405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039269] [ENSMUST00000107775] [ENSMUST00000107776] [ENSMUST00000107778]

AlphaFold

Q0P5X5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039269
AA Change: G151E

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000043970
Gene: ENSMUSG00000034151
AA Change: G151E

Domain	Start	End	E-Value	Type
Blast:BBOX	13	58	5e-22	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000107775
AA Change: G151E

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

SMART Domains

Protein: ENSMUSP00000103404
Gene: ENSMUSG00000034151
AA Change: G151E

Domain	Start	End	E-Value	Type
Pfam:zf-B_box	12	58	3.9e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107776
AA Change: G151E

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

SMART Domains

Protein: ENSMUSP00000103405
Gene: ENSMUSG00000034151
AA Change: G151E

Domain	Start	End	E-Value	Type
Blast:BBOX	13	58	1e-21	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107778
AA Change: G151E

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103407
Gene: ENSMUSG00000034151
AA Change: G151E

Domain	Start	End	E-Value	Type
Blast:BBOX	13	58	5e-22	BLAST

Meta Mutation Damage Score

0.1153

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

98% (39/40)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad2	A	G	15: 57,963,119 (GRCm39)	C805R	probably benign	Het
Atf7ip	T	A	6: 136,537,815 (GRCm39)	N357K	probably benign	Het
Atp7a	T	A	X: 105,145,449 (GRCm39)		probably null	Het
Cdc16	T	C	8: 13,827,609 (GRCm39)		probably null	Het
Cdh26	T	A	2: 178,111,794 (GRCm39)		probably benign	Het
Ctdp1	A	T	18: 80,495,566 (GRCm39)	S273T	probably damaging	Het
Cyb5d1	G	T	11: 69,284,658 (GRCm39)	R165S	probably damaging	Het
Ddhd1	T	C	14: 45,848,030 (GRCm39)	K546R	probably benign	Het
Ddhd1	A	T	14: 45,894,720 (GRCm39)	V250E	probably damaging	Het
Dnm1l	G	T	16: 16,139,476 (GRCm39)	A406D	possibly damaging	Het
Efs	G	A	14: 55,157,879 (GRCm39)		probably benign	Het
Ephb1	A	C	9: 101,918,238 (GRCm39)	S424A	probably benign	Het
Erich3	A	G	3: 154,470,215 (GRCm39)	T83A	possibly damaging	Het
Erich3	A	G	3: 154,469,958 (GRCm39)		probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Gm9970	G	C	5: 31,398,117 (GRCm39)		probably benign	Het
H2az2	A	G	11: 6,383,761 (GRCm39)	V53A	possibly damaging	Het
Inpp5d	G	A	1: 87,629,130 (GRCm39)		probably benign	Het
Lhcgr	A	G	17: 89,061,284 (GRCm39)	S256P	possibly damaging	Het
Lrch4	T	A	5: 137,635,992 (GRCm39)	D348E	probably damaging	Het
Mettl13	T	C	1: 162,371,789 (GRCm39)	E360G	probably damaging	Het
Mtss2	C	T	8: 111,456,692 (GRCm39)	S192L	probably damaging	Het
Myh8	G	A	11: 67,175,443 (GRCm39)		probably benign	Het
Myom2	T	A	8: 15,152,650 (GRCm39)	Y666N	probably benign	Het
Pcdha8	G	A	18: 37,126,741 (GRCm39)	V408M	probably damaging	Het
Pcdhb3	T	C	18: 37,435,878 (GRCm39)	F615L	probably damaging	Het
Pitrm1	T	C	13: 6,608,271 (GRCm39)	L333P	probably damaging	Het
Plxnb1	G	T	9: 108,942,526 (GRCm39)		probably benign	Het
Poldip3	A	G	15: 83,015,676 (GRCm39)		probably benign	Het
Rbmx2	T	A	X: 47,797,890 (GRCm39)	S143T	possibly damaging	Het
Rgl2	C	A	17: 34,151,571 (GRCm39)	A205D	probably benign	Het
Rundc3a	A	G	11: 102,290,085 (GRCm39)	I175V	possibly damaging	Het
Rxra	A	C	2: 27,631,923 (GRCm39)	Q198P	probably damaging	Het
Slc25a36	A	T	9: 96,982,208 (GRCm39)	Y42*	probably null	Het
Slc4a5	A	G	6: 83,265,285 (GRCm39)	D693G	probably benign	Het
Tmem86b	A	G	7: 4,631,623 (GRCm39)	L138P	probably damaging	Het
Trappc13	C	T	13: 104,305,068 (GRCm39)	D40N	probably benign	Het
Vmn1r39	T	C	6: 66,781,863 (GRCm39)	S152G	probably damaging	Het
Zfp35	T	C	18: 24,135,982 (GRCm39)	C109R	possibly damaging	Het

Other mutations in Zbbx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Zbbx	APN	3	74,968,839 (GRCm39)	critical splice donor site	probably null
IGL01328:Zbbx	APN	3	75,000,382 (GRCm39)	nonsense	probably null
IGL01340:Zbbx	APN	3	75,012,957 (GRCm39)	missense	possibly damaging	0.53
IGL01631:Zbbx	APN	3	74,985,984 (GRCm39)	missense	probably damaging	0.99
IGL01681:Zbbx	APN	3	74,959,785 (GRCm39)	missense	probably damaging	1.00
IGL02427:Zbbx	APN	3	75,046,905 (GRCm39)	missense	probably benign	0.04
IGL03077:Zbbx	APN	3	74,989,153 (GRCm39)	missense	possibly damaging	0.61
IGL03115:Zbbx	APN	3	74,985,867 (GRCm39)	missense	probably benign	0.03
IGL03162:Zbbx	APN	3	74,978,930 (GRCm39)	splice site	probably benign
Eland	UTSW	3	74,979,019 (GRCm39)	missense	probably benign	0.01
PIT4480001:Zbbx	UTSW	3	75,043,794 (GRCm39)	missense	probably damaging	1.00
PIT4495001:Zbbx	UTSW	3	74,968,944 (GRCm39)	missense	probably damaging	1.00
R0179:Zbbx	UTSW	3	74,992,869 (GRCm39)	splice site	probably benign
R0396:Zbbx	UTSW	3	74,985,802 (GRCm39)	missense	possibly damaging	0.81
R0523:Zbbx	UTSW	3	74,989,165 (GRCm39)	missense	probably benign	0.03
R0603:Zbbx	UTSW	3	74,985,757 (GRCm39)	missense	probably benign	0.05
R0745:Zbbx	UTSW	3	75,062,734 (GRCm39)	missense	probably damaging	1.00
R0747:Zbbx	UTSW	3	75,062,734 (GRCm39)	missense	probably damaging	1.00
R1208:Zbbx	UTSW	3	74,945,299 (GRCm39)	missense	possibly damaging	0.94
R1208:Zbbx	UTSW	3	74,945,299 (GRCm39)	missense	possibly damaging	0.94
R1371:Zbbx	UTSW	3	74,959,784 (GRCm39)	missense	possibly damaging	0.58
R1769:Zbbx	UTSW	3	74,990,926 (GRCm39)	splice site	probably benign
R1906:Zbbx	UTSW	3	74,979,047 (GRCm39)	missense	probably damaging	1.00
R2069:Zbbx	UTSW	3	74,985,719 (GRCm39)	missense	probably benign	0.01
R2165:Zbbx	UTSW	3	75,019,414 (GRCm39)	missense	probably damaging	0.99
R2174:Zbbx	UTSW	3	74,959,721 (GRCm39)	missense	possibly damaging	0.93
R2979:Zbbx	UTSW	3	74,985,793 (GRCm39)	nonsense	probably null
R3121:Zbbx	UTSW	3	74,989,153 (GRCm39)	missense	possibly damaging	0.88
R3755:Zbbx	UTSW	3	75,012,978 (GRCm39)	missense	probably damaging	1.00
R3816:Zbbx	UTSW	3	74,992,802 (GRCm39)	missense	probably benign	0.00
R4002:Zbbx	UTSW	3	75,012,978 (GRCm39)	missense	probably damaging	1.00
R4003:Zbbx	UTSW	3	75,012,978 (GRCm39)	missense	probably damaging	1.00
R4057:Zbbx	UTSW	3	75,012,978 (GRCm39)	missense	probably damaging	1.00
R4072:Zbbx	UTSW	3	75,012,978 (GRCm39)	missense	probably damaging	1.00
R4073:Zbbx	UTSW	3	75,012,978 (GRCm39)	missense	probably damaging	1.00
R4075:Zbbx	UTSW	3	75,012,978 (GRCm39)	missense	probably damaging	1.00
R4114:Zbbx	UTSW	3	75,046,905 (GRCm39)	missense	probably benign	0.04
R4784:Zbbx	UTSW	3	74,992,348 (GRCm39)	missense	probably benign	0.05
R4821:Zbbx	UTSW	3	74,989,054 (GRCm39)	missense	possibly damaging	0.68
R5008:Zbbx	UTSW	3	75,058,755 (GRCm39)	missense	possibly damaging	0.62
R5030:Zbbx	UTSW	3	74,990,990 (GRCm39)	missense	possibly damaging	0.83
R5388:Zbbx	UTSW	3	74,990,977 (GRCm39)	missense	probably damaging	0.98
R6398:Zbbx	UTSW	3	74,985,872 (GRCm39)	missense	probably damaging	0.96
R6462:Zbbx	UTSW	3	74,985,966 (GRCm39)	missense	probably benign	0.07
R6597:Zbbx	UTSW	3	75,043,761 (GRCm39)	missense	probably damaging	1.00
R6882:Zbbx	UTSW	3	74,979,019 (GRCm39)	missense	probably benign	0.01
R7084:Zbbx	UTSW	3	75,046,853 (GRCm39)	missense	possibly damaging	0.92
R7096:Zbbx	UTSW	3	74,989,044 (GRCm39)	missense	probably benign	0.03
R7102:Zbbx	UTSW	3	75,019,401 (GRCm39)	missense	probably benign	0.06
R7256:Zbbx	UTSW	3	74,947,205 (GRCm39)	missense	probably benign	0.02
R7537:Zbbx	UTSW	3	74,992,826 (GRCm39)	missense	probably damaging	1.00
R7836:Zbbx	UTSW	3	74,985,781 (GRCm39)	missense	possibly damaging	0.65
R7905:Zbbx	UTSW	3	74,992,820 (GRCm39)	missense	probably benign	0.23
R8110:Zbbx	UTSW	3	75,062,749 (GRCm39)	missense	possibly damaging	0.58
R8367:Zbbx	UTSW	3	74,989,034 (GRCm39)	critical splice donor site	probably null
R8772:Zbbx	UTSW	3	75,062,692 (GRCm39)	missense	probably benign	0.37
R8859:Zbbx	UTSW	3	74,968,741 (GRCm39)	missense	unknown
R9012:Zbbx	UTSW	3	74,968,960 (GRCm39)	missense	possibly damaging	0.73
R9062:Zbbx	UTSW	3	74,989,124 (GRCm39)	missense	possibly damaging	0.78
R9119:Zbbx	UTSW	3	74,985,897 (GRCm39)	missense	probably damaging	0.99
R9401:Zbbx	UTSW	3	75,019,390 (GRCm39)	missense	probably benign	0.26
R9531:Zbbx	UTSW	3	74,985,865 (GRCm39)	missense	probably damaging	1.00
R9678:Zbbx	UTSW	3	75,046,841 (GRCm39)	missense	probably damaging	1.00
R9736:Zbbx	UTSW	3	74,968,741 (GRCm39)	missense	unknown
R9780:Zbbx	UTSW	3	74,945,359 (GRCm39)	missense	probably damaging	1.00
Z1177:Zbbx	UTSW	3	75,012,991 (GRCm39)	missense	probably damaging	0.98
Z1177:Zbbx	UTSW	3	74,979,090 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATCTCCCTTGGGAAGCTCTAGC -3'
(R):5'- CATCTGAGCCAACCATTTATAACTG -3'

Sequencing Primer
(F):5'- CCCTTGGGAAGCTCTAGCAAATTG -3'
(R):5'- TCATGTCCTGATAAGATGCAGG -3'

Posted On

2015-03-18