Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01510:Zbtb11'

89176

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zbtb11

Ensembl Gene

ENSMUSG00000022601

Gene Name

zinc finger and BTB domain containing 11

Synonyms

ZNF-U69274, 9230110G02Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.972) question?

Stock #

IGL01510

Quality Score

Status

Chromosome

Chromosomal Location

55973883-56008913 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 55990343 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 288 (V288G)

Ref Sequence

ENSEMBL: ENSMUSP00000056923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050248]

AlphaFold

G5E8B9

Predicted Effect

probably damaging
Transcript: ENSMUST00000050248
AA Change: V288G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000056923
Gene: ENSMUSG00000022601
AA Change: V288G

Domain	Start	End	E-Value	Type
low complexity region	136	158	N/A	INTRINSIC
low complexity region	161	177	N/A	INTRINSIC
BTB	214	312	4.77e-13	SMART
low complexity region	371	399	N/A	INTRINSIC
ZnF_C2H2	566	588	1.1e-2	SMART
ZnF_C2H2	594	616	2.09e-3	SMART
low complexity region	623	640	N/A	INTRINSIC
ZnF_C2H2	648	670	4.47e-3	SMART
ZnF_C2H2	676	698	8.22e-2	SMART
ZnF_C2H2	704	726	2.27e-4	SMART
ZnF_C2H2	732	754	1.28e-3	SMART
ZnF_C2H2	763	785	2.95e-3	SMART
ZnF_C2H2	791	813	7.67e-2	SMART
ZnF_C2H2	819	843	2.95e-3	SMART
ZnF_C2H2	855	877	1.67e-2	SMART
ZnF_C2H2	883	905	3.02e0	SMART
ZnF_C2H2	911	934	9.58e-3	SMART
low complexity region	979	994	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183440

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,143,979	Q6R	probably damaging	Het
Adam5	A	T	8: 24,804,465	C373S	probably damaging	Het
Adgre4	T	C	17: 55,818,760		probably null	Het
Akap10	A	T	11: 61,878,020	M614K	possibly damaging	Het
Amigo2	T	C	15: 97,245,081	T487A	probably benign	Het
Asap1	T	C	15: 64,158,928	D300G	probably damaging	Het
Atp4a	C	A	7: 30,720,791	L788M	probably benign	Het
Bcl3	T	A	7: 19,809,614	H309L	probably damaging	Het
Cblc	T	C	7: 19,785,275	N376S	probably benign	Het
Cd200r2	A	T	16: 44,909,311	I110L	probably benign	Het
Ceacam3	T	C	7: 17,159,842	M426T	probably benign	Het
Cep295	G	A	9: 15,354,626	R29*	probably null	Het
Ces1a	G	T	8: 93,045,098	P24T	probably damaging	Het
Ctps	G	T	4: 120,558,844	T194K	probably damaging	Het
Cul3	A	G	1: 80,282,679	S318P	probably damaging	Het
Fasl	A	T	1: 161,781,953	S155T	possibly damaging	Het
Gldc	C	T	19: 30,113,721		probably null	Het
Gpr21	T	A	2: 37,518,421	C326*	probably null	Het
Gtf2a1	A	G	12: 91,567,833	S216P	probably benign	Het
Hoxb5	A	T	11: 96,303,992	S127C	possibly damaging	Het
Htt	A	T	5: 34,907,512	Q3023L	probably damaging	Het
Kalrn	T	A	16: 34,235,330	H855L	possibly damaging	Het
Lars	T	C	18: 42,242,109	I289V	probably benign	Het
Lrig3	C	A	10: 126,008,698	T677K	probably damaging	Het
Mapk7	A	T	11: 61,491,160	W309R	probably damaging	Het
Mmp12	A	G	9: 7,358,307	T468A	possibly damaging	Het
Muc5b	A	T	7: 141,859,061	N1915Y	unknown	Het
Naprt	A	G	15: 75,890,988		probably benign	Het
Nfatc1	T	C	18: 80,698,188	Y199C	probably damaging	Het
Olfr857	A	T	9: 19,713,279	I151F	probably benign	Het
Olfr919	T	C	9: 38,697,905	I158V	probably benign	Het
Phip	T	A	9: 82,913,871	I566F	probably benign	Het
Pnpla3	T	A	15: 84,171,072		probably benign	Het
Ptpn13	C	T	5: 103,562,300	T1567I	probably damaging	Het
Ptpn20	A	G	14: 33,638,386		probably null	Het
Ptprq	G	T	10: 107,712,048	T163K	probably damaging	Het
Slc8a1	A	G	17: 81,648,365	C415R	probably damaging	Het
Slco4c1	A	G	1: 96,867,953	S127P	probably damaging	Het
Tcerg1l	A	T	7: 138,394,305		probably benign	Het
Thbd	C	T	2: 148,406,974	V325M	probably damaging	Het
Trim37	G	A	11: 87,177,860	R344H	probably damaging	Het
Ttn	T	C	2: 76,872,765		probably benign	Het
Uvrag	G	A	7: 99,004,589	Q65*	probably null	Het
Wrap53	G	A	11: 69,562,740	S342L	possibly damaging	Het

Other mutations in Zbtb11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:Zbtb11	APN	16	56000602	nonsense	probably null
IGL01107:Zbtb11	APN	16	56006007	missense	probably damaging	1.00
IGL01341:Zbtb11	APN	16	55990931	missense	possibly damaging	0.68
IGL01611:Zbtb11	APN	16	55980610	missense	probably damaging	1.00
IGL01736:Zbtb11	APN	16	55998160	missense	probably damaging	1.00
IGL01834:Zbtb11	APN	16	55991008	missense	probably benign	0.35
IGL02427:Zbtb11	APN	16	55982350	missense	possibly damaging	0.95
IGL02441:Zbtb11	APN	16	55974189	missense	possibly damaging	0.94
IGL02455:Zbtb11	APN	16	56000675	missense	probably damaging	1.00
PIT4544001:Zbtb11	UTSW	16	55998193	nonsense	probably null
R0987:Zbtb11	UTSW	16	55990708	missense	probably benign	0.00
R1414:Zbtb11	UTSW	16	55990560	nonsense	probably null
R1437:Zbtb11	UTSW	16	55991620	critical splice donor site	probably null
R1570:Zbtb11	UTSW	16	55990815	missense	probably benign
R1658:Zbtb11	UTSW	16	55974225	missense	possibly damaging	0.71
R1735:Zbtb11	UTSW	16	55990682	missense	probably benign
R2048:Zbtb11	UTSW	16	55998009	missense	probably damaging	1.00
R2925:Zbtb11	UTSW	16	55974084	missense	probably benign	0.00
R4072:Zbtb11	UTSW	16	55998064	missense	possibly damaging	0.89
R4075:Zbtb11	UTSW	16	55998064	missense	possibly damaging	0.89
R4076:Zbtb11	UTSW	16	55998064	missense	possibly damaging	0.89
R5023:Zbtb11	UTSW	16	56006065	missense	probably damaging	1.00
R5755:Zbtb11	UTSW	16	56000713	missense	probably benign	0.02
R5757:Zbtb11	UTSW	16	56007029	missense	probably damaging	1.00
R6218:Zbtb11	UTSW	16	55998073	missense	probably benign	0.00
R6313:Zbtb11	UTSW	16	55990491	missense	probably benign	0.03
R6461:Zbtb11	UTSW	16	56006871	missense	probably damaging	0.99
R6666:Zbtb11	UTSW	16	56006252	missense	probably damaging	1.00
R6807:Zbtb11	UTSW	16	55990502	missense	probably benign	0.03
R7194:Zbtb11	UTSW	16	56007188	missense	probably damaging	1.00
R7424:Zbtb11	UTSW	16	55990487	missense	probably benign	0.01
R8022:Zbtb11	UTSW	16	56006020	missense	probably damaging	0.99
R8436:Zbtb11	UTSW	16	56000659	nonsense	probably null
R8532:Zbtb11	UTSW	16	55990889	missense	probably benign	0.03
R8806:Zbtb11	UTSW	16	55982274	missense	probably damaging	1.00
R9033:Zbtb11	UTSW	16	55998129	missense	probably benign
RF014:Zbtb11	UTSW	16	55980597	missense	probably damaging	0.97
Z1176:Zbtb11	UTSW	16	55991502	nonsense	probably null

Posted On

2013-12-03