Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01681:Zbbx'

103806

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 #

IGL01681

Quality Score

Status

Chromosome

Chromosomal Location

74945214-75072341 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 74959785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 595 (Y595D)

Ref Sequence

ENSEMBL: ENSMUSP00000103407 (fasta)

Gene Model

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

AlphaFold

Q0P5X5

Predicted Effect

probably damaging
Transcript: ENSMUST00000039269
AA Change: Y590D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043970
Gene: ENSMUSG00000034151
AA Change: Y590D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107778
AA Change: Y595D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103407
Gene: ENSMUSG00000034151
AA Change: Y595D

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp2	T	A	18: 80,171,103 (GRCm39)	E1102V	probably damaging	Het
Appl2	T	A	10: 83,450,165 (GRCm39)	I236F	possibly damaging	Het
Asb15	C	A	6: 24,567,137 (GRCm39)	T486K	probably damaging	Het
Bsdc1	T	C	4: 129,359,141 (GRCm39)		probably null	Het
Cts8	G	T	13: 61,401,433 (GRCm39)	Q61K	probably benign	Het
Cyp2d34	C	T	15: 82,501,332 (GRCm39)		probably null	Het
Dnah12	A	G	14: 26,443,315 (GRCm39)	T575A	probably benign	Het
Dync2h1	T	C	9: 7,142,196 (GRCm39)		probably null	Het
Fam170a	A	G	18: 50,415,302 (GRCm39)	D316G	possibly damaging	Het
Gtf2h3	T	A	5: 124,732,854 (GRCm39)	L216Q	probably damaging	Het
Heatr6	T	A	11: 83,655,826 (GRCm39)	S306T	probably benign	Het
Hey2	A	G	10: 30,710,133 (GRCm39)	S207P	probably benign	Het
Kng2	T	A	16: 22,815,767 (GRCm39)		probably benign	Het
Lama2	C	T	10: 27,141,041 (GRCm39)	E653K	probably benign	Het
Lrrcc1	T	C	3: 14,613,286 (GRCm39)	V37A	probably benign	Het
Neb	T	C	2: 52,091,498 (GRCm39)	D5085G	probably damaging	Het
Nexn	T	C	3: 151,949,507 (GRCm39)	M321V	possibly damaging	Het
Nsmce3	A	G	7: 64,522,221 (GRCm39)	I149T	probably benign	Het
Oxct1	T	G	15: 4,131,326 (GRCm39)	S405A	possibly damaging	Het
Pdpr	T	A	8: 111,859,568 (GRCm39)	N703K	probably damaging	Het
Scn10a	A	T	9: 119,523,143 (GRCm39)	D83E	probably damaging	Het
Slc47a2	C	T	11: 61,228,866 (GRCm39)	A104T	probably damaging	Het
Slc4a2	A	G	5: 24,639,185 (GRCm39)	I393V	probably damaging	Het
Thoc6	A	T	17: 23,888,857 (GRCm39)	L184M	possibly damaging	Het
Tjp2	C	T	19: 24,112,213 (GRCm39)		probably null	Het
Tmem63b	A	G	17: 45,974,497 (GRCm39)	L591P	probably damaging	Het
Tnrc6b	A	G	15: 80,763,512 (GRCm39)		probably null	Het
Trmt5	G	T	12: 73,329,377 (GRCm39)		probably benign	Het
Ubap1l	T	A	9: 65,281,201 (GRCm39)	M293K	probably benign	Het
Yars1	A	G	4: 129,099,935 (GRCm39)	E211G	probably damaging	Het
Zc3h10	G	A	10: 128,381,109 (GRCm39)	Q83*	probably null	Het
Zcchc3	T	C	2: 152,255,925 (GRCm39)	N258S	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
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
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

2014-01-21