Mutagenetix > Incidental Mutation

Incidental Mutation 'R6398:Zbbx'

516060

Institutional Source

Beutler Lab

Gene Symbol

Zbbx

Ensembl Gene

ENSMUSG00000034151

Gene Name

zinc finger, B-box domain containing

Synonyms

MMRRC Submission

044381-MU

Accession Numbers

Essential gene?

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

Stock #

R6398 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74945214-75072341 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 74985872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 388 (N388K)

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: N388K

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000043970
Gene: ENSMUSG00000034151
AA Change: N388K

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 damaging
Transcript: ENSMUST00000107776
AA Change: N388K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103405
Gene: ENSMUSG00000034151
AA Change: N388K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107778
AA Change: N393K

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103407
Gene: ENSMUSG00000034151
AA Change: N393K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago1	T	A	4: 126,342,601 (GRCm39)	Q514L	probably benign	Het
Alpi	G	C	1: 87,027,184 (GRCm39)	T365S	probably damaging	Het
Cbx4	A	T	11: 118,971,908 (GRCm39)	V489E	probably damaging	Het
Ccdc162	T	C	10: 41,503,145 (GRCm39)	D999G	probably damaging	Het
Clspn	A	G	4: 126,457,740 (GRCm39)	E88G	probably damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Ddx1	A	T	12: 13,295,721 (GRCm39)	I33N	probably damaging	Het
Diaph3	G	A	14: 87,103,922 (GRCm39)	L821F	probably damaging	Het
Duox2	C	T	2: 122,126,851 (GRCm39)	M221I	probably benign	Het
Gm15130	A	T	2: 110,965,787 (GRCm39)	M154K	unknown	Het
Gm3233	G	T	10: 77,595,249 (GRCm39)		probably benign	Het
Heg1	A	C	16: 33,587,145 (GRCm39)	I1327L	probably damaging	Het
Ifnar1	G	A	16: 91,302,303 (GRCm39)		probably null	Het
Itpr1	C	T	6: 108,482,864 (GRCm39)	L2310F	probably damaging	Het
Or5b98	T	C	19: 12,931,681 (GRCm39)	S243P	probably damaging	Het
Pcdhb7	A	G	18: 37,476,487 (GRCm39)	N541S	possibly damaging	Het
Prelp	A	G	1: 133,842,479 (GRCm39)	L222P	probably damaging	Het
Prl8a8	A	G	13: 27,692,412 (GRCm39)	I193T	probably damaging	Het
Prpf4b	G	T	13: 35,084,354 (GRCm39)	R914L	probably damaging	Het
Ptbp2	G	C	3: 119,514,484 (GRCm39)	Q448E	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Slc9a9	A	T	9: 94,552,280 (GRCm39)	M56L	probably benign	Het
Slfn4	A	G	11: 83,078,000 (GRCm39)	I263V	possibly damaging	Het
Taar2	A	G	10: 23,817,177 (GRCm39)	N239S	probably benign	Het
Trrap	T	A	5: 144,727,680 (GRCm39)	I467N	possibly damaging	Het
Ttc28	T	C	5: 111,424,142 (GRCm39)	Y1439H	probably damaging	Het
Usp34	A	G	11: 23,438,666 (GRCm39)	I3409M	probably benign	Het
Znhit2	A	G	19: 6,112,287 (GRCm39)	N344S	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
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'- GCTATCACCTTAAGCGGCAG -3'
(R):5'- CCAGAGTCCTAACTATTGACTTTTGG -3'

Sequencing Primer
(F):5'- CACCTTAAGCGGCAGTACTTTAATC -3'
(R):5'- CCTAACTATTGACTTTTGGCTTTTG -3'

Posted On

2018-05-04