Mutagenetix > Incidental Mutation

Incidental Mutation 'R8859:Zbbx'

675505

Institutional Source

Beutler Lab

Gene Symbol

Zbbx

Ensembl Gene

ENSMUSG00000034151

Gene Name

zinc finger, B-box domain containing

Synonyms

MMRRC Submission

068739-MU

Accession Numbers

Essential gene?

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

Stock #

R8859 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74945214-75072341 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74968741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 572 (F572L)

Ref Sequence

ENSEMBL: ENSMUSP00000103405 (fasta)

Gene Model

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

AlphaFold

Q0P5X5

Predicted Effect

probably benign
Transcript: ENSMUST00000039269

SMART Domains

Protein: ENSMUSP00000043970
Gene: ENSMUSG00000034151

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

Predicted Effect

unknown
Transcript: ENSMUST00000107776
AA Change: F572L

SMART Domains

Protein: ENSMUSP00000103405
Gene: ENSMUSG00000034151
AA Change: F572L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107778

SMART Domains

Protein: ENSMUSP00000103407
Gene: ENSMUSG00000034151

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

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (95/96)

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,328,397 (GRCm39)	Y3490F		Het
Abcc1	T	C	16: 14,214,225 (GRCm39)	V167A	probably benign	Het
Abcd2	G	A	15: 91,073,149 (GRCm39)	R337C	probably damaging	Het
Adcy1	A	G	11: 7,111,877 (GRCm39)	D914G	probably benign	Het
Ahnak	G	T	19: 8,984,567 (GRCm39)	L1950F	probably damaging	Het
Alox5ap	T	C	5: 149,201,994 (GRCm39)		probably null	Het
Ank	C	T	15: 27,562,834 (GRCm39)	H181Y	possibly damaging	Het
Ankrd44	T	A	1: 54,706,680 (GRCm39)	D592V	possibly damaging	Het
Ap4m1	T	A	5: 138,174,185 (GRCm39)	N185K	possibly damaging	Het
Arhgef28	T	A	13: 98,082,210 (GRCm39)	D1199V	probably damaging	Het
Arnt	T	C	3: 95,397,691 (GRCm39)		probably null	Het
Atcay	C	T	10: 81,060,298 (GRCm39)	V13M	probably benign	Het
B4galt3	T	C	1: 171,099,241 (GRCm39)	S2P	unknown	Het
Bicra	A	T	7: 15,721,737 (GRCm39)	S593R	possibly damaging	Het
Brsk2	A	C	7: 141,552,415 (GRCm39)	Q633P	probably damaging	Het
Cacna1c	T	A	6: 118,653,280 (GRCm39)	S909C		Het
Ccdc7a	G	A	8: 129,788,113 (GRCm39)	T72M	probably benign	Het
Ccn1	T	C	3: 145,354,380 (GRCm39)	D177G	probably benign	Het
Cct2	A	T	10: 116,896,739 (GRCm39)	F155I	possibly damaging	Het
Cdv3	G	T	9: 103,233,594 (GRCm39)	P194T	probably damaging	Het
Cenpc1	A	T	5: 86,160,153 (GRCm39)	V895E	probably benign	Het
Cep170b	T	C	12: 112,702,881 (GRCm39)	V448A	probably benign	Het
Chil3	G	A	3: 106,071,440 (GRCm39)	R75C	possibly damaging	Het
Cnfn	A	T	7: 25,067,869 (GRCm39)	C24S	probably benign	Het
Cnga3	A	G	1: 37,299,852 (GRCm39)	K191E	possibly damaging	Het
Col12a1	A	T	9: 79,587,681 (GRCm39)	Y1153*	probably null	Het
Coq4	C	A	2: 29,685,491 (GRCm39)	H168Q	probably damaging	Het
Dennd2b	T	A	7: 109,123,863 (GRCm39)	K1132M	probably damaging	Het
Dnajc14	G	A	10: 128,642,488 (GRCm39)	V137I	probably benign	Het
Efr3a	T	C	15: 65,726,614 (GRCm39)	L569P	probably damaging	Het
Epb41l3	A	T	17: 69,591,575 (GRCm39)	E677D	probably benign	Het
Esp8	G	A	17: 40,841,013 (GRCm39)	M91I	unknown	Het
Fubp1	A	T	3: 151,937,669 (GRCm39)		probably benign	Het
Gldc	G	T	19: 30,116,779 (GRCm39)	A391D	probably damaging	Het
Gm17728	A	G	17: 9,641,027 (GRCm39)	T46A	probably benign	Het
Gm5798	A	G	14: 41,072,603 (GRCm39)	K112E	probably damaging	Het
Gpnmb	A	G	6: 49,028,964 (GRCm39)		probably benign	Het
Grwd1	T	C	7: 45,475,298 (GRCm39)	T415A	probably benign	Het
Gsdma3	C	G	11: 98,522,086 (GRCm39)	A172G	possibly damaging	Het
Hltf	C	T	3: 20,119,566 (GRCm39)	Q204*	probably null	Het
Igf1r	T	G	7: 67,833,211 (GRCm39)	V457G	possibly damaging	Het
Inhbc	A	T	10: 127,192,984 (GRCm39)	M344K	probably damaging	Het
Jak3	C	T	8: 72,131,160 (GRCm39)	A60V	probably benign	Het
Kif13b	A	G	14: 64,979,882 (GRCm39)	T511A	probably benign	Het
Lama2	T	A	10: 27,335,384 (GRCm39)	N97I	possibly damaging	Het
Limd2	T	A	11: 106,049,576 (GRCm39)	D104V	probably damaging	Het
Loxl3	T	A	6: 83,014,526 (GRCm39)	C145S	probably damaging	Het
Lrrc37	A	C	11: 103,506,370 (GRCm39)	I1866S	unknown	Het
Lrrc73	A	G	17: 46,565,455 (GRCm39)	N62S	probably benign	Het
Lrrtm4	A	G	6: 79,998,870 (GRCm39)	D94G	probably damaging	Het
Lsm3	C	A	6: 91,499,252 (GRCm39)	F86L	probably damaging	Het
Map10	T	C	8: 126,397,291 (GRCm39)	V228A	probably benign	Het
Mcidas	A	C	13: 113,130,664 (GRCm39)	S54R	possibly damaging	Het
Me3	T	C	7: 89,455,876 (GRCm39)	Y243H	probably damaging	Het
Mgat4b	A	G	11: 50,121,674 (GRCm39)	T89A	possibly damaging	Het
Mmp16	T	A	4: 18,054,355 (GRCm39)		probably benign	Het
Mtmr9	G	A	14: 63,781,226 (GRCm39)		probably benign	Het
Myo1b	G	T	1: 51,836,198 (GRCm39)	A331E	probably damaging	Het
Ncoa6	C	T	2: 155,248,388 (GRCm39)	V1639M	possibly damaging	Het
Nek9	C	T	12: 85,353,120 (GRCm39)	G752R	probably damaging	Het
Nufip2	A	G	11: 77,584,069 (GRCm39)	Y661C	probably benign	Het
Or10w1	T	A	19: 13,632,246 (GRCm39)	V151E	probably damaging	Het
Or1n2	C	T	2: 36,797,516 (GRCm39)	A186V	possibly damaging	Het
Or51t4	A	T	7: 102,598,373 (GRCm39)	I234F	probably damaging	Het
Or7g16	T	C	9: 18,726,992 (GRCm39)	I199M	possibly damaging	Het
Or8g55	G	A	9: 39,784,894 (GRCm39)	G108S	probably benign	Het
Oxct2a	A	G	4: 123,216,322 (GRCm39)	L353S	probably benign	Het
Parvg	A	G	15: 84,222,001 (GRCm39)	I243V	probably benign	Het
Pcdhgb7	C	A	18: 37,886,349 (GRCm39)	N506K	possibly damaging	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Pgghg	G	A	7: 140,525,367 (GRCm39)		probably null	Het
Phrf1	G	T	7: 140,836,516 (GRCm39)	G263W	unknown	Het
Ppfia1	A	C	7: 144,032,762 (GRCm39)		probably null	Het
Prss37	T	A	6: 40,491,897 (GRCm39)	I228F	probably damaging	Het
Ptpro	A	T	6: 137,403,782 (GRCm39)	K921*	probably null	Het
Rictor	T	G	15: 6,813,067 (GRCm39)	L940R	probably damaging	Het
Rp1	A	G	1: 4,420,183 (GRCm39)	S310P	probably benign	Het
Ryr3	A	G	2: 112,483,564 (GRCm39)	V4091A	probably damaging	Het
Saxo4	T	A	19: 10,459,599 (GRCm39)	Y36F	probably damaging	Het
Sirt5	T	A	13: 43,524,327 (GRCm39)	M33K	possibly damaging	Het
Slc25a30	T	A	14: 76,008,917 (GRCm39)	Y90F	probably benign	Het
Stimate	T	A	14: 30,588,629 (GRCm39)	Y119N	probably damaging	Het
Stk11	G	A	10: 79,964,269 (GRCm39)	D388N	probably benign	Het
Tgm1	C	A	14: 55,949,686 (GRCm39)	R126L	probably benign	Het
Tmem129	G	T	5: 33,811,837 (GRCm39)	T321N	probably benign	Het
Tnfrsf11a	A	T	1: 105,772,244 (GRCm39)		probably null	Het
Tor1aip1	A	G	1: 155,907,190 (GRCm39)	C195R	probably benign	Het
Tpr	A	G	1: 150,284,597 (GRCm39)	E428G	possibly damaging	Het
Trps1	T	A	15: 50,685,769 (GRCm39)	D802V	possibly damaging	Het
Usp17lc	T	A	7: 103,064,316 (GRCm39)	S6T	probably benign	Het
Vangl1	C	A	3: 102,065,758 (GRCm39)	R459L		Het
Vmn1r43	T	C	6: 89,846,937 (GRCm39)	Y183C	probably damaging	Het
Vmn2r110	C	T	17: 20,794,560 (GRCm39)	C703Y	probably damaging	Het
Vmn2r54	T	C	7: 12,363,702 (GRCm39)	Q397R	possibly damaging	Het
Vmn2r88	T	C	14: 51,656,263 (GRCm39)	V824A	probably damaging	Het
Vmn2r89	A	T	14: 51,693,170 (GRCm39)	Y79F	probably benign	Het
Vnn1	T	C	10: 23,780,484 (GRCm39)	S491P	probably benign	Het
Zc3h4	A	T	7: 16,168,939 (GRCm39)	Q1091L	unknown	Het
Zfp503	C	T	14: 22,037,286 (GRCm39)	V106I	possibly damaging	Het
Zfp874a	T	C	13: 67,590,647 (GRCm39)	T346A	probably benign	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
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
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'- ATCCTGGAGAGATAACACGGC -3'
(R):5'- TATGCTGGTAGTGCCGATGC -3'

Sequencing Primer
(F):5'- ATAACACGGCCCATGGGGTG -3'
(R):5'- CGATGCCTTGTGTGATCAGCAAAG -3'

Posted On

2021-07-15