Mutagenetix > Incidental Mutation

Incidental Mutation 'R5363:Zbtb17'

500974

Institutional Source

Beutler Lab

Gene Symbol

Zbtb17

Ensembl Gene

ENSMUSG00000006215

Gene Name

zinc finger and BTB domain containing 17

Synonyms

mZ13, Zfp100, Miz1

MMRRC Submission

042941-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5363 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141444654-141467930 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141466761 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 700 (E700G)

Ref Sequence

ENSEMBL: ENSMUSP00000006377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006377] [ENSMUST00000078886] [ENSMUST00000105786]

AlphaFold

Q60821

Predicted Effect

probably benign
Transcript: ENSMUST00000006377
AA Change: E700G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000006377
Gene: ENSMUSG00000006215
AA Change: E700G

Domain	Start	End	E-Value	Type
BTB	24	116	1.38e-27	SMART
low complexity region	203	222	N/A	INTRINSIC
ZnF_C2H2	297	319	6.42e-4	SMART
ZnF_C2H2	325	347	3.11e-2	SMART
ZnF_C2H2	353	375	2.49e-1	SMART
ZnF_C2H2	381	403	8.47e-4	SMART
ZnF_C2H2	409	431	8.47e-4	SMART
ZnF_C2H2	437	459	1.22e-4	SMART
ZnF_C2H2	465	487	4.94e-5	SMART
ZnF_C2H2	493	515	3.26e-5	SMART
ZnF_C2H2	521	543	7.26e-3	SMART
ZnF_C2H2	549	571	4.79e-3	SMART
ZnF_C2H2	577	599	1.58e-3	SMART
ZnF_C2H2	605	628	2.57e-3	SMART
low complexity region	654	674	N/A	INTRINSIC
ZnF_C2H2	708	730	4.4e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000078886

SMART Domains

Protein: ENSMUSP00000077925
Gene: ENSMUSG00000040761

Domain	Start	End	E-Value	Type
RRM	7	77	7.77e-12	SMART
low complexity region	109	121	N/A	INTRINSIC
low complexity region	235	257	N/A	INTRINSIC
low complexity region	262	311	N/A	INTRINSIC
RRM	338	411	8.6e-5	SMART
RRM	441	511	1.56e-16	SMART
RRM	520	587	1.84e-13	SMART
low complexity region	617	632	N/A	INTRINSIC
low complexity region	669	691	N/A	INTRINSIC
low complexity region	695	720	N/A	INTRINSIC
low complexity region	749	773	N/A	INTRINSIC
coiled coil region	800	825	N/A	INTRINSIC
low complexity region	830	841	N/A	INTRINSIC
internal_repeat_2	844	954	6.27e-5	PROSPERO
coiled coil region	1494	1522	N/A	INTRINSIC
low complexity region	1587	1627	N/A	INTRINSIC
low complexity region	1635	1641	N/A	INTRINSIC
low complexity region	1642	1671	N/A	INTRINSIC
low complexity region	1747	1758	N/A	INTRINSIC
low complexity region	1810	1823	N/A	INTRINSIC
low complexity region	1888	1903	N/A	INTRINSIC
low complexity region	1940	1955	N/A	INTRINSIC
low complexity region	2003	2012	N/A	INTRINSIC
internal_repeat_2	2015	2115	6.27e-5	PROSPERO
low complexity region	2127	2147	N/A	INTRINSIC
low complexity region	2169	2191	N/A	INTRINSIC
low complexity region	2207	2219	N/A	INTRINSIC
low complexity region	2304	2323	N/A	INTRINSIC
low complexity region	2332	2371	N/A	INTRINSIC
low complexity region	2396	2413	N/A	INTRINSIC
low complexity region	2518	2533	N/A	INTRINSIC
low complexity region	2545	2555	N/A	INTRINSIC
low complexity region	2696	2722	N/A	INTRINSIC
low complexity region	2931	2942	N/A	INTRINSIC
low complexity region	2994	3006	N/A	INTRINSIC
low complexity region	3192	3212	N/A	INTRINSIC
low complexity region	3299	3337	N/A	INTRINSIC
Pfam:SPOC	3465	3586	2.7e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105786

SMART Domains

Protein: ENSMUSP00000101412
Gene: ENSMUSG00000040761

Domain	Start	End	E-Value	Type
RRM	7	77	7.77e-12	SMART
low complexity region	109	121	N/A	INTRINSIC
low complexity region	235	257	N/A	INTRINSIC
low complexity region	262	311	N/A	INTRINSIC
RRM	338	411	8.6e-5	SMART
RRM	441	511	1.56e-16	SMART
RRM	520	587	1.84e-13	SMART
low complexity region	692	714	N/A	INTRINSIC
low complexity region	718	743	N/A	INTRINSIC
low complexity region	772	796	N/A	INTRINSIC
coiled coil region	823	848	N/A	INTRINSIC
low complexity region	853	864	N/A	INTRINSIC
internal_repeat_2	867	977	8.58e-5	PROSPERO
coiled coil region	1517	1545	N/A	INTRINSIC
low complexity region	1610	1650	N/A	INTRINSIC
low complexity region	1658	1664	N/A	INTRINSIC
low complexity region	1665	1694	N/A	INTRINSIC
low complexity region	1770	1781	N/A	INTRINSIC
low complexity region	1833	1846	N/A	INTRINSIC
low complexity region	1911	1926	N/A	INTRINSIC
low complexity region	1963	1978	N/A	INTRINSIC
low complexity region	2026	2035	N/A	INTRINSIC
internal_repeat_2	2038	2138	8.58e-5	PROSPERO
low complexity region	2150	2170	N/A	INTRINSIC
low complexity region	2192	2214	N/A	INTRINSIC
low complexity region	2230	2242	N/A	INTRINSIC
low complexity region	2327	2346	N/A	INTRINSIC
low complexity region	2355	2394	N/A	INTRINSIC
low complexity region	2419	2436	N/A	INTRINSIC
low complexity region	2541	2556	N/A	INTRINSIC
low complexity region	2568	2578	N/A	INTRINSIC
low complexity region	2719	2745	N/A	INTRINSIC
low complexity region	2954	2965	N/A	INTRINSIC
low complexity region	3017	3029	N/A	INTRINSIC
low complexity region	3215	3235	N/A	INTRINSIC
low complexity region	3322	3360	N/A	INTRINSIC
Pfam:SPOC	3488	3609	2.7e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142020

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142438

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142695

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147227

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc finger protein involved in the regulation of c-myc. The symbol MIZ1 has also been associated with PIAS2 which is a different gene located on chromosome 18. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryonic development of homozygous null mice is severely impaired and death occurs prior to E8.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	G	T	2: 148,783,378	L77F	probably damaging	Het
Abca1	A	G	4: 53,132,963	I40T	probably benign	Het
Abca13	T	C	11: 9,277,035	V597A	possibly damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Anapc1	A	G	2: 128,650,194		probably null	Het
Ap4e1	G	A	2: 127,037,864		probably null	Het
Apod	T	C	16: 31,311,091	T16A	probably benign	Het
Arrdc5	C	T	17: 56,300,138	V36M	probably damaging	Het
Bcan	A	G	3: 87,995,487	V328A	probably damaging	Het
Bche	A	G	3: 73,700,639	Y485H	probably damaging	Het
Btbd6	A	G	12: 112,978,136	Y356C	probably damaging	Het
Cdh4	A	G	2: 179,886,763	T555A	probably benign	Het
Ciita	C	T	16: 10,512,167	H769Y	probably damaging	Het
Clspn	A	G	4: 126,561,786	D35G	possibly damaging	Het
Cpsf3	T	A	12: 21,308,985	M562K	probably benign	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,929,459		probably null	Het
Cyp2a22	T	A	7: 26,936,433	Q235L	probably damaging	Het
Dicer1	A	G	12: 104,703,151	S1091P	probably damaging	Het
Dync1li1	T	A	9: 114,715,229	I323N	probably damaging	Het
Fam196b	G	A	11: 34,402,788	E277K	probably damaging	Het
Fat4	A	G	3: 38,888,005	N349S	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Hectd4	T	C	5: 121,310,603	M338T	probably benign	Het
Lactb2	A	T	1: 13,630,132	I225N	probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Mrps30	A	G	13: 118,387,162	S25P	probably benign	Het
Myg1	T	C	15: 102,337,824	V378A	probably benign	Het
Notch4	C	T	17: 34,587,123	T1731I	probably damaging	Het
Ntmt1	A	G	2: 30,820,648	D121G	probably damaging	Het
Olfr1167	A	T	2: 88,149,802	D72E	probably damaging	Het
Olfr763	C	A	10: 129,011,914	P210T	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pclo	A	G	5: 14,669,410	D1187G	unknown	Het
Pkd1	T	A	17: 24,565,073	Y198N	probably benign	Het
Plk4	T	A	3: 40,801,984	N83K	possibly damaging	Het
Prune2	A	T	19: 17,118,266	Q378L	probably damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rasa1	G	T	13: 85,288,555	T118K	possibly damaging	Het
Rin3	G	A	12: 102,325,834	V97M	probably damaging	Het
Rock2	T	C	12: 16,965,654		probably null	Het
Slc34a1	A	G	13: 55,403,268	I289V	probably benign	Het
Slc34a1	T	C	13: 55,412,290	L443P	probably damaging	Het
Slco2a1	A	T	9: 103,070,263	I254F	probably damaging	Het
Spink11	T	C	18: 44,195,686	I32V	probably benign	Het
Spire1	T	C	18: 67,506,555	E296G	probably damaging	Het
Sun1	A	G	5: 139,234,743	N410D	probably damaging	Het
Syt14	T	A	1: 192,930,663	T610S	possibly damaging	Het
Tenm3	T	C	8: 48,287,831	I1206V	possibly damaging	Het
Tet3	A	T	6: 83,376,764		probably null	Het
Thbs1	A	T	2: 118,122,666	Q919L	probably damaging	Het
Trappc10	A	G	10: 78,188,840	F1152L	possibly damaging	Het
Trp63	C	A	16: 25,863,718	N176K	probably damaging	Het
Zfp446	G	A	7: 12,978,057	R69H	probably benign	Het
Zfy2	C	T	Y: 2,106,555	C693Y	possibly damaging	Het
Zxdc	A	G	6: 90,382,146	T587A	probably damaging	Het
Zyg11a	A	G	4: 108,189,622	C552R	probably damaging	Het

Other mutations in Zbtb17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01137:Zbtb17	APN	4	141466367	nonsense	probably null
IGL01449:Zbtb17	APN	4	141463305	missense	probably benign
IGL01835:Zbtb17	APN	4	141465438	critical splice donor site	probably null
IGL02141:Zbtb17	APN	4	141464953	missense	probably damaging	1.00
IGL02142:Zbtb17	APN	4	141464982	missense	probably benign	0.29
IGL02167:Zbtb17	APN	4	141461829	missense	possibly damaging	0.94
IGL02388:Zbtb17	APN	4	141461913	missense	probably damaging	1.00
IGL02600:Zbtb17	APN	4	141466885	missense	possibly damaging	0.50
IGL02617:Zbtb17	APN	4	141465088	missense	probably damaging	0.97
IGL03290:Zbtb17	APN	4	141466933	missense	probably damaging	1.00
IGL03391:Zbtb17	APN	4	141466758	missense	probably damaging	1.00
IGL02799:Zbtb17	UTSW	4	141463380	missense	probably benign	0.20
R0698:Zbtb17	UTSW	4	141466096	splice site	probably null
R0736:Zbtb17	UTSW	4	141461786	missense	probably damaging	1.00
R1924:Zbtb17	UTSW	4	141464603	missense	probably damaging	1.00
R1940:Zbtb17	UTSW	4	141465548	missense	possibly damaging	0.83
R2164:Zbtb17	UTSW	4	141464246	missense	probably benign
R2517:Zbtb17	UTSW	4	141464585	missense	probably damaging	1.00
R3424:Zbtb17	UTSW	4	141464988	missense	probably damaging	0.99
R3884:Zbtb17	UTSW	4	141464575	missense	probably damaging	1.00
R4609:Zbtb17	UTSW	4	141466498	missense	probably damaging	1.00
R5055:Zbtb17	UTSW	4	141466549	missense	possibly damaging	0.68
R5327:Zbtb17	UTSW	4	141465631	missense	probably benign	0.22
R5987:Zbtb17	UTSW	4	141464817	missense	possibly damaging	0.94
R6038:Zbtb17	UTSW	4	141464441	missense	probably benign	0.05
R6038:Zbtb17	UTSW	4	141464441	missense	probably benign	0.05
R6311:Zbtb17	UTSW	4	141463383	missense	probably benign	0.00
R6320:Zbtb17	UTSW	4	141463383	missense	probably benign	0.00
R6321:Zbtb17	UTSW	4	141463383	missense	probably benign	0.00
R6322:Zbtb17	UTSW	4	141463383	missense	probably benign	0.00
R6337:Zbtb17	UTSW	4	141463383	missense	probably benign	0.00
R6365:Zbtb17	UTSW	4	141463383	missense	probably benign	0.00
R6492:Zbtb17	UTSW	4	141463383	missense	probably benign	0.00
R6605:Zbtb17	UTSW	4	141464950	missense	probably damaging	0.99
R6695:Zbtb17	UTSW	4	141461799	missense	probably damaging	1.00
R7717:Zbtb17	UTSW	4	141466083	missense	probably damaging	1.00
R7999:Zbtb17	UTSW	4	141461823	missense	probably damaging	1.00
R8542:Zbtb17	UTSW	4	141466828	unclassified	probably benign
R8544:Zbtb17	UTSW	4	141466828	unclassified	probably benign
R8545:Zbtb17	UTSW	4	141466828	unclassified	probably benign
R8836:Zbtb17	UTSW	4	141461922	missense	possibly damaging	0.68
R9072:Zbtb17	UTSW	4	141466365	missense	possibly damaging	0.50
R9073:Zbtb17	UTSW	4	141466365	missense	possibly damaging	0.50
R9389:Zbtb17	UTSW	4	141465820	missense	possibly damaging	0.89
R9785:Zbtb17	UTSW	4	141466960	missense	possibly damaging	0.64
Z1176:Zbtb17	UTSW	4	141463679	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAACAGGTGTGCACTGTGG -3'
(R):5'- TGGAACATGACCAGTGCCTG -3'

Sequencing Primer
(F):5'- TGTGCACTGTGGGCAGG -3'
(R):5'- GGGCTGTGTGGATCCGAAC -3'

Posted On

2017-12-01