Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03077:Zbbx'

417712

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zbbx

Ensembl Gene

ENSMUSG00000034151

Gene Name

zinc finger, B-box domain containing

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL03077

Quality Score

Status

Chromosome

Chromosomal Location

74945214-75072341 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74989153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 317 (T317S)

Ref Sequence

ENSEMBL: ENSMUSP00000103407 (fasta)

Gene Model

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

AlphaFold

Q0P5X5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039269
AA Change: T312S

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000043970
Gene: ENSMUSG00000034151
AA Change: T312S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107775
AA Change: T317S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000103404
Gene: ENSMUSG00000034151
AA Change: T317S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107776
AA Change: T312S

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000103405
Gene: ENSMUSG00000034151
AA Change: T312S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107778
AA Change: T317S

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103407
Gene: ENSMUSG00000034151
AA Change: T317S

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	G	17: 84,999,308 (GRCm39)	N135D	probably damaging	Het
Ak4	T	C	4: 101,277,148 (GRCm39)	L44P	probably damaging	Het
Angpt1	C	A	15: 42,339,818 (GRCm39)	G298*	probably null	Het
Appl2	C	T	10: 83,457,623 (GRCm39)		probably benign	Het
Arhgap19	T	A	19: 41,769,760 (GRCm39)	H341L	probably benign	Het
Chmp5	T	C	4: 40,952,438 (GRCm39)	S98P	probably benign	Het
Chp1	A	T	2: 119,415,081 (GRCm39)	Q161L	probably benign	Het
Clgn	T	C	8: 84,150,769 (GRCm39)	V478A	probably benign	Het
Cplane1	G	A	15: 8,242,279 (GRCm39)		probably benign	Het
Cyp2b19	A	T	7: 26,461,809 (GRCm39)	M210L	probably benign	Het
Eif4g3	T	A	4: 137,853,166 (GRCm39)	V244D	probably damaging	Het
Ftcd	T	C	10: 76,417,461 (GRCm39)	I300T	probably damaging	Het
Gm12886	C	T	4: 121,272,697 (GRCm39)		probably benign	Het
Klrb1f	A	T	6: 129,030,765 (GRCm39)	E92V	probably null	Het
Krt23	A	G	11: 99,374,700 (GRCm39)		probably benign	Het
Mib2	T	G	4: 155,743,900 (GRCm39)	R47S	probably benign	Het
Mindy4	A	G	6: 55,286,315 (GRCm39)	T728A	probably damaging	Het
Myh15	A	G	16: 48,916,901 (GRCm39)	N407S	probably benign	Het
Nlrp4f	A	G	13: 65,342,412 (GRCm39)	V411A	probably benign	Het
Or10ag56	T	C	2: 87,140,056 (GRCm39)	*328Q	probably null	Het
Or4c12b	A	C	2: 89,647,486 (GRCm39)	D266A	probably damaging	Het
Otud4	T	G	8: 80,400,087 (GRCm39)	S934A	probably damaging	Het
P3h1	C	T	4: 119,093,983 (GRCm39)	R213W	probably damaging	Het
Phrf1	A	T	7: 140,834,881 (GRCm39)	K19*	probably null	Het
Prl3b1	A	T	13: 27,429,759 (GRCm39)	M66L	probably benign	Het
Psmd7	T	C	8: 108,309,099 (GRCm39)	T149A	probably benign	Het
Samd4b	T	C	7: 28,105,868 (GRCm39)	D450G	probably damaging	Het
Scn3a	G	A	2: 65,367,016 (GRCm39)	A2V	probably damaging	Het
Snrpa	G	A	7: 26,891,186 (GRCm39)	T95I	probably benign	Het
Traip	A	G	9: 107,840,125 (GRCm39)		probably benign	Het
Trbc1	T	A	6: 41,515,383 (GRCm39)		probably benign	Het
Trim72	A	T	7: 127,607,013 (GRCm39)	M181L	probably benign	Het
Ttc41	T	C	10: 86,594,212 (GRCm39)	Y882H	probably damaging	Het
Vmn1r191	A	C	13: 22,363,316 (GRCm39)	I146S	probably benign	Het
Vmn2r9	G	T	5: 108,996,173 (GRCm39)		probably benign	Het
Vps13a	A	G	19: 16,688,246 (GRCm39)	S854P	probably benign	Het
Wdfy1	T	C	1: 79,692,622 (GRCm39)	K232E	possibly damaging	Het
Xpr1	A	T	1: 155,156,774 (GRCm39)	D625E	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
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
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

Posted On

2016-08-02