Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03115:Zbbx'

419369

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

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL03115

Quality Score

Status

Chromosome

Chromosomal Location

75037907-75165034 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75078560 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 395 (D395G)

Ref Sequence

ENSEMBL: ENSMUSP00000103407 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000039269
AA Change: D390G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000043970
Gene: ENSMUSG00000034151
AA Change: D390G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107775

SMART Domains

Protein: ENSMUSP00000103404
Gene: ENSMUSG00000034151

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107776
AA Change: D390G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103405
Gene: ENSMUSG00000034151
AA Change: D390G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107778
AA Change: D395G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000103407
Gene: ENSMUSG00000034151
AA Change: D395G

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	T	A	14: 68,571,353	H302L	probably damaging	Het
Adamts12	T	A	15: 11,263,336	C595S	probably damaging	Het
Arid2	G	A	15: 96,370,273	V756I	probably damaging	Het
Asah1	A	T	8: 41,360,299	W26R	possibly damaging	Het
Brinp1	C	T	4: 68,904,736		probably null	Het
Cers2	A	G	3: 95,321,352	D162G	probably damaging	Het
Clasp1	G	T	1: 118,501,323	E106*	probably null	Het
Col12a1	T	C	9: 79,681,437	E1132G	probably damaging	Het
Dhdds	G	T	4: 133,982,871	H196N	probably benign	Het
Eps8	T	C	6: 137,527,381	D118G	probably damaging	Het
Fmo9	A	G	1: 166,677,651	S7P	probably damaging	Het
Gamt	A	G	10: 80,258,438	L197P	probably damaging	Het
Grb7	A	G	11: 98,451,119	I82V	probably damaging	Het
Hectd2	T	C	19: 36,599,721		probably null	Het
Ilk	T	C	7: 105,740,335	V83A	probably damaging	Het
Kif21a	T	A	15: 90,985,395	I418F	probably damaging	Het
Kndc1	A	G	7: 139,921,509	I905V	probably benign	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Morc3	T	C	16: 93,871,083	I710T	probably damaging	Het
Nefm	T	C	14: 68,120,279		probably benign	Het
Olfr452	A	G	6: 42,790,665	T209A	probably benign	Het
Olfr937	C	A	9: 39,059,963	R234S	probably damaging	Het
Olfr975	T	C	9: 39,950,744	E9G	probably damaging	Het
Pard6g	T	G	18: 80,079,853	L34W	probably damaging	Het
Patj	C	T	4: 98,443,803	S562L	probably damaging	Het
Pcsk4	A	G	10: 80,329,049	I61T	probably damaging	Het
Pcsk7	T	A	9: 45,914,372	H300Q	probably damaging	Het
Pip5kl1	A	G	2: 32,580,021	D288G	probably damaging	Het
Plxnb2	T	A	15: 89,162,438		probably benign	Het
Poldip2	T	C	11: 78,521,144		probably benign	Het
Ralgapa2	T	C	2: 146,424,814	Y614C	probably damaging	Het
Rarres1	C	A	3: 67,495,812		probably null	Het
Samd3	C	T	10: 26,271,708	T427M	probably damaging	Het
Skap1	A	G	11: 96,702,620	I98V	probably benign	Het
Skint11	T	C	4: 114,244,623	S87P	probably damaging	Het
Slc22a22	T	G	15: 57,263,274	E133A	probably damaging	Het
Slc23a2	T	C	2: 132,091,265	Y91C	probably damaging	Het
Slc6a20b	T	A	9: 123,597,338	E494V	possibly damaging	Het
Slco1a4	A	C	6: 141,817,859	M377R	probably damaging	Het
Slco1a4	A	T	6: 141,819,603	D304E	probably benign	Het
Srpk2	T	C	5: 23,524,618		probably null	Het
Supt3	T	G	17: 45,041,227	C271W	probably damaging	Het
Taar7d	C	A	10: 24,027,641	F140L	probably benign	Het
Tmbim7	T	C	5: 3,679,158	*225Q	probably null	Het
Tpst1	T	C	5: 130,101,911	I74T	probably damaging	Het
Utp3	T	C	5: 88,555,320	V236A	possibly damaging	Het
Vmn2r55	A	T	7: 12,670,631	F282I	probably damaging	Het
Vwa5b1	A	T	4: 138,600,149	I372N	possibly damaging	Het
Wtip	C	T	7: 34,125,533	A209T	probably damaging	Het
Zfp273	A	T	13: 67,825,650	H299L	probably damaging	Het
Zfp459	G	A	13: 67,408,677	R96*	probably null	Het

Other mutations in Zbbx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Zbbx	APN	3	75061532	critical splice donor site	probably null
IGL01328:Zbbx	APN	3	75093075	nonsense	probably null
IGL01340:Zbbx	APN	3	75105650	missense	possibly damaging	0.53
IGL01631:Zbbx	APN	3	75078677	missense	probably damaging	0.99
IGL01681:Zbbx	APN	3	75052478	missense	probably damaging	1.00
IGL02427:Zbbx	APN	3	75139598	missense	probably benign	0.04
IGL03077:Zbbx	APN	3	75081846	missense	possibly damaging	0.61
IGL03162:Zbbx	APN	3	75071623	splice site	probably benign
Eland	UTSW	3	75071712	missense	probably benign	0.01
PIT4480001:Zbbx	UTSW	3	75136487	missense	probably damaging	1.00
PIT4495001:Zbbx	UTSW	3	75061637	missense	probably damaging	1.00
R0179:Zbbx	UTSW	3	75085562	splice site	probably benign
R0396:Zbbx	UTSW	3	75078495	missense	possibly damaging	0.81
R0523:Zbbx	UTSW	3	75081858	missense	probably benign	0.03
R0603:Zbbx	UTSW	3	75078450	missense	probably benign	0.05
R0745:Zbbx	UTSW	3	75155427	missense	probably damaging	1.00
R0747:Zbbx	UTSW	3	75155427	missense	probably damaging	1.00
R1208:Zbbx	UTSW	3	75037992	missense	possibly damaging	0.94
R1208:Zbbx	UTSW	3	75037992	missense	possibly damaging	0.94
R1371:Zbbx	UTSW	3	75052477	missense	possibly damaging	0.58
R1769:Zbbx	UTSW	3	75083619	splice site	probably benign
R1906:Zbbx	UTSW	3	75071740	missense	probably damaging	1.00
R2069:Zbbx	UTSW	3	75078412	missense	probably benign	0.01
R2165:Zbbx	UTSW	3	75112107	missense	probably damaging	0.99
R2174:Zbbx	UTSW	3	75052414	missense	possibly damaging	0.93
R2979:Zbbx	UTSW	3	75078486	nonsense	probably null
R3121:Zbbx	UTSW	3	75081846	missense	possibly damaging	0.88
R3755:Zbbx	UTSW	3	75105671	missense	probably damaging	1.00
R3756:Zbbx	UTSW	3	75105671	missense	probably damaging	1.00
R3816:Zbbx	UTSW	3	75085495	missense	probably benign	0.00
R4002:Zbbx	UTSW	3	75105671	missense	probably damaging	1.00
R4003:Zbbx	UTSW	3	75105671	missense	probably damaging	1.00
R4057:Zbbx	UTSW	3	75105671	missense	probably damaging	1.00
R4072:Zbbx	UTSW	3	75105671	missense	probably damaging	1.00
R4073:Zbbx	UTSW	3	75105671	missense	probably damaging	1.00
R4075:Zbbx	UTSW	3	75105671	missense	probably damaging	1.00
R4114:Zbbx	UTSW	3	75139598	missense	probably benign	0.04
R4784:Zbbx	UTSW	3	75085041	missense	probably benign	0.05
R4821:Zbbx	UTSW	3	75081747	missense	possibly damaging	0.68
R5008:Zbbx	UTSW	3	75151448	missense	possibly damaging	0.62
R5030:Zbbx	UTSW	3	75083683	missense	possibly damaging	0.83
R5388:Zbbx	UTSW	3	75083670	missense	probably damaging	0.98
R6398:Zbbx	UTSW	3	75078565	missense	probably damaging	0.96
R6462:Zbbx	UTSW	3	75078659	missense	probably benign	0.07
R6597:Zbbx	UTSW	3	75136454	missense	probably damaging	1.00
R6882:Zbbx	UTSW	3	75071712	missense	probably benign	0.01
R7084:Zbbx	UTSW	3	75139546	missense	possibly damaging	0.92
R7096:Zbbx	UTSW	3	75081737	missense	probably benign	0.03
R7102:Zbbx	UTSW	3	75112094	missense	probably benign	0.06
R7256:Zbbx	UTSW	3	75039898	missense	probably benign	0.02
R7537:Zbbx	UTSW	3	75085519	missense	probably damaging	1.00
R7836:Zbbx	UTSW	3	75078474	missense	possibly damaging	0.65
R7905:Zbbx	UTSW	3	75085513	missense	probably benign	0.23
R7919:Zbbx	UTSW	3	75078474	missense	possibly damaging	0.65
R7988:Zbbx	UTSW	3	75085513	missense	probably benign	0.23
Z1177:Zbbx	UTSW	3	75071783	critical splice acceptor site	unknown
Z1177:Zbbx	UTSW	3	75105684	missense	not run

Posted On

2016-08-02