Mutagenetix > Incidental Mutation

Incidental Mutation 'R4002:Zbbx'

311304

Institutional Source

Beutler Lab

Gene Symbol

Zbbx

Ensembl Gene

ENSMUSG00000034151

Gene Name

zinc finger, B-box domain containing

Synonyms

MMRRC Submission

041609-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R4002 (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: 97.1%
20x: 94.4%

Validation Efficiency

97% (29/30)

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,274,964 (GRCm39)	N222K	possibly damaging	Het
Abca13	A	T	11: 9,535,415 (GRCm39)	M4680L	probably benign	Het
Adgrv1	GA	GAA	13: 81,688,251 (GRCm39)		probably null	Het
Afdn	T	C	17: 14,104,179 (GRCm39)	S1157P	probably damaging	Het
Ank1	A	G	8: 23,629,479 (GRCm39)	T63A	probably damaging	Het
Asah1	A	G	8: 41,801,176 (GRCm39)		probably benign	Het
Cdh18	T	A	15: 23,383,048 (GRCm39)	L277I	possibly damaging	Het
Ces3a	A	T	8: 105,784,093 (GRCm39)	D431V	probably damaging	Het
Dbx1	T	C	7: 49,286,265 (GRCm39)	S67G	probably benign	Het
Dmxl2	A	G	9: 54,381,116 (GRCm39)		probably benign	Het
Dnah7a	T	A	1: 53,670,840 (GRCm39)	T471S	probably benign	Het
Efcab8	A	T	2: 153,623,726 (GRCm39)	K70N	probably benign	Het
Grcc10	A	T	6: 124,717,933 (GRCm39)	M1K	probably null	Het
Higd2a	G	C	13: 54,738,540 (GRCm39)	C53S	probably damaging	Het
Kcna4	C	T	2: 107,126,259 (GRCm39)	P331L	probably damaging	Het
Keg1	T	A	19: 12,696,307 (GRCm39)	S164T	possibly damaging	Het
Ltbp1	T	C	17: 75,617,154 (GRCm39)	V1031A	probably benign	Het
Obsl1	G	A	1: 75,476,743 (GRCm39)	T737I	possibly damaging	Het
Or10al7	G	A	17: 38,365,879 (GRCm39)	L193F	probably damaging	Het
Or7g33	C	T	9: 19,449,202 (GRCm39)	R8K	probably benign	Het
Or7g35	T	G	9: 19,496,010 (GRCm39)	M59R	probably damaging	Het
Serpinb6d	A	G	13: 33,854,630 (GRCm39)	M202V	probably damaging	Het
Tcf19	A	G	17: 35,826,822 (GRCm39)		probably null	Het
Tlr11	T	C	14: 50,599,984 (GRCm39)	F657L	probably benign	Het
Ttf2	G	A	3: 100,855,541 (GRCm39)	Q96*	probably null	Het
Ube2frt	G	A	12: 36,140,635 (GRCm39)		probably benign	Het
Zfp810	C	T	9: 22,190,188 (GRCm39)	C240Y	probably 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
R3756: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
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'- CTTGGGAAGCTCTAGCAAATTG -3'
(R):5'- TGAGCCAACCATTTATAACTGC -3'

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

Posted On

2015-04-29