Mutagenetix > Incidental Mutation

Incidental Mutation 'R6462:Zbbx'

517625

Institutional Source

Beutler Lab

Gene Symbol

Zbbx

Ensembl Gene

ENSMUSG00000034151

Gene Name

zinc finger, B-box domain containing

Synonyms

MMRRC Submission

044596-MU

Accession Numbers

Essential gene?

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

Stock #

R6462 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74945214-75072341 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74985966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 362 (E362G)

Ref Sequence

ENSEMBL: ENSMUSP00000103407 (fasta)

Gene Model

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

AlphaFold

Q0P5X5

Predicted Effect

probably benign
Transcript: ENSMUST00000039269
AA Change: E357G

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000043970
Gene: ENSMUSG00000034151
AA Change: E357G

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

Predicted Effect

unknown
Transcript: ENSMUST00000107775
AA Change: S364G

SMART Domains

Protein: ENSMUSP00000103404
Gene: ENSMUSG00000034151
AA Change: S364G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107776
AA Change: E357G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000103405
Gene: ENSMUSG00000034151
AA Change: E357G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107778
AA Change: E362G

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000103407
Gene: ENSMUSG00000034151
AA Change: E362G

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.6%

Validation Efficiency

95% (37/39)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arpc1a	C	T	5: 145,045,197 (GRCm39)	S362F	probably benign	Het
Brd9	C	T	13: 74,088,788 (GRCm39)	A171V	probably damaging	Het
Camta1	A	G	4: 151,170,621 (GRCm39)	V62A	probably damaging	Het
Cdc5l	G	A	17: 45,703,975 (GRCm39)	R750C	probably benign	Het
Ctdp1	C	T	18: 80,463,689 (GRCm39)	E116K	probably damaging	Het
Dync2i1	T	C	12: 116,193,251 (GRCm39)	N567S	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Epor	T	C	9: 21,870,551 (GRCm39)	E443G	probably benign	Het
Fam90a1a	A	T	8: 22,449,298 (GRCm39)	Q14L	probably benign	Het
Herc4	T	C	10: 63,124,880 (GRCm39)	L498P	probably benign	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Lmod2	T	G	6: 24,604,300 (GRCm39)	V425G	probably benign	Het
Ly6c1	T	A	15: 74,916,178 (GRCm39)		probably benign	Het
Me2	C	A	18: 73,908,470 (GRCm39)	V490F	probably benign	Het
Mllt3	T	C	4: 87,692,338 (GRCm39)	T27A	probably damaging	Het
Mmp1a	T	C	9: 7,467,039 (GRCm39)	Y239H	probably benign	Het
Mycbp2	A	G	14: 103,373,993 (GRCm39)		probably null	Het
Myo15b	A	C	11: 115,750,268 (GRCm39)	E346A	probably benign	Het
Myo3a	T	C	2: 22,448,423 (GRCm39)	F66S	probably damaging	Het
Ncor2	T	C	5: 125,101,236 (GRCm39)	Y137C	probably damaging	Het
Nup98	A	T	7: 101,844,223 (GRCm39)	F37L	probably benign	Het
Odf2l	T	G	3: 144,852,672 (GRCm39)	L472R	probably damaging	Het
Or10al2	T	C	17: 37,983,111 (GRCm39)	Y66H	probably damaging	Het
P4ha3	T	A	7: 99,963,873 (GRCm39)	I463N	probably damaging	Het
Pappa	C	A	4: 65,043,128 (GRCm39)	T117K	probably damaging	Het
Ppme1	C	A	7: 99,987,599 (GRCm39)	R271M	probably benign	Het
Rps6ka4	T	G	19: 6,814,957 (GRCm39)	E249A	possibly damaging	Het
Rxfp1	T	A	3: 79,555,596 (GRCm39)	I587F	probably benign	Het
Sipa1l2	A	G	8: 126,217,969 (GRCm39)	V456A	probably damaging	Het
Slc25a23	T	A	17: 57,359,720 (GRCm39)	I344F	probably damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Tbc1d10c	T	C	19: 4,234,893 (GRCm39)	I389M	possibly damaging	Het
Tep1	A	G	14: 51,081,836 (GRCm39)	F1205L	probably benign	Het
Tgfbr1	T	A	4: 47,402,846 (GRCm39)	H214Q	probably damaging	Het
Traf3ip2	T	A	10: 39,515,243 (GRCm39)	N340K	probably benign	Het
Zfp46	A	C	4: 136,017,924 (GRCm39)	T253P	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
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
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'- TACCAGTGGTTCCTTTGCAG -3'
(R):5'- CTGCCCCATTGTTGCTACAG -3'

Sequencing Primer
(F):5'- AAGTTTGACCTCTCATTTTGATTGC -3'
(R):5'- GCCCTGTCTTAACACAAATTTGAAC -3'

Posted On

2018-05-21