Mutagenetix > Incidental Mutation

Incidental Mutation 'R6320:Zbtb17'

510082

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

044475-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6320 (G1)

Quality Score

171.009

Status

Validated

Chromosome

Chromosomal Location

141171984-141195248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 141190694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 171 (G171S)

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: G171S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000006377
Gene: ENSMUSG00000006215
AA Change: G171S

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: ENSMUST00000144899

Meta Mutation Damage Score

0.0800

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1b	G	T	3: 20,369,943 (GRCm39)	A221D	probably benign	Het
Aldh18a1	A	T	19: 40,559,005 (GRCm39)	D280E	probably benign	Het
Apob	G	A	12: 8,039,194 (GRCm39)	D475N	probably benign	Het
Bmi1	C	T	2: 18,689,186 (GRCm39)	T290I	probably benign	Het
Brd8	A	T	18: 34,746,292 (GRCm39)	D139E	possibly damaging	Het
Cacna1e	C	A	1: 154,317,270 (GRCm39)	V1467F	possibly damaging	Het
Cdh15	A	G	8: 123,591,086 (GRCm39)	D445G	probably benign	Het
Ceacam5	T	A	7: 17,481,123 (GRCm39)	L290H	probably damaging	Het
Celsr1	G	T	15: 85,785,160 (GRCm39)	Q3025K	probably benign	Het
Chi3l1	T	A	1: 134,109,996 (GRCm39)	M1K	probably null	Het
Crybg2	T	C	4: 133,808,737 (GRCm39)	S1404P	probably damaging	Het
Cubn	C	A	2: 13,285,006 (GRCm39)	C3470F	probably damaging	Het
Cyp20a1	T	C	1: 60,391,331 (GRCm39)		probably null	Het
Cyp24a1	G	T	2: 170,328,704 (GRCm39)	T408K	probably benign	Het
Cyp2a12	A	T	7: 26,730,577 (GRCm39)	I181F	possibly damaging	Het
Dnm1l	A	T	16: 16,149,952 (GRCm39)	I268N	probably damaging	Het
Eif2a	A	G	3: 58,464,517 (GRCm39)		probably null	Het
Epg5	T	C	18: 78,005,613 (GRCm39)	F701S	probably damaging	Het
Fbxo46	T	C	7: 18,870,466 (GRCm39)	S362P	possibly damaging	Het
Fgf22	A	G	10: 79,592,830 (GRCm39)		probably benign	Het
Fhod1	A	C	8: 106,063,982 (GRCm39)		probably benign	Het
Flnc	T	A	6: 29,459,062 (GRCm39)	V2448D	probably damaging	Het
Gm2696	G	T	10: 77,671,972 (GRCm39)		probably benign	Het
Gmpr	T	C	13: 45,685,874 (GRCm39)	S214P	possibly damaging	Het
Krt6a	A	G	15: 101,600,744 (GRCm39)	V308A	probably damaging	Het
Lig3	T	A	11: 82,684,833 (GRCm39)		probably null	Het
Lrrc37a	T	A	11: 103,394,877 (GRCm39)	N183Y	probably benign	Het
Mapk8ip3	C	A	17: 25,125,879 (GRCm39)	G422V	probably damaging	Het
Mks1	T	C	11: 87,746,325 (GRCm39)	S97P	probably benign	Het
Mphosph9	A	T	5: 124,463,024 (GRCm39)	V7E	probably damaging	Het
Msh5	A	G	17: 35,248,900 (GRCm39)	L711P	probably damaging	Het
Naga	T	A	15: 82,216,404 (GRCm39)		probably null	Het
Nherf4	A	G	9: 44,159,980 (GRCm39)	V380A	probably benign	Het
Nlrp10	T	A	7: 108,524,953 (GRCm39)	T176S	possibly damaging	Het
Nqo1	T	C	8: 108,115,582 (GRCm39)	N232D	probably benign	Het
Or1j21	C	G	2: 36,683,585 (GRCm39)	N112K	possibly damaging	Het
Or2b6	T	A	13: 21,823,418 (GRCm39)	I92L	probably damaging	Het
P2ry6	A	G	7: 100,587,603 (GRCm39)	F252S	probably damaging	Het
P3h3	G	A	6: 124,831,835 (GRCm39)	R317W	probably benign	Het
Pakap	T	A	4: 57,710,173 (GRCm39)	C373S	probably damaging	Het
Phkb	T	A	8: 86,602,327 (GRCm39)	D39E	probably benign	Het
Psg16	G	A	7: 16,822,112 (GRCm39)	G23D	probably damaging	Het
Ptgr2	T	A	12: 84,349,111 (GRCm39)	I150K	probably benign	Het
Ptprf	A	G	4: 118,070,011 (GRCm39)	V1457A	probably benign	Het
Sart3	A	T	5: 113,889,301 (GRCm39)	Y508N	probably benign	Het
Sh3bp1	C	T	15: 78,795,715 (GRCm39)	P615S	probably damaging	Het
Ska3	A	T	14: 58,054,148 (GRCm39)	N267K	probably benign	Het
Slc26a7	A	G	4: 14,524,498 (GRCm39)	I462T	probably benign	Het
Slu7	C	T	11: 43,332,316 (GRCm39)	A244V	probably benign	Het
Smarca4	C	T	9: 21,548,671 (GRCm39)	P319L	probably damaging	Het
Smg9	A	G	7: 24,120,286 (GRCm39)	D420G	probably benign	Het
Strc	T	A	2: 121,205,439 (GRCm39)	D25V	probably benign	Het
Syne2	T	G	12: 76,108,424 (GRCm39)	V936G	probably damaging	Het
Tbc1d7	C	T	13: 43,306,409 (GRCm39)		probably benign	Het
Terb1	C	A	8: 105,173,831 (GRCm39)	D751Y	probably damaging	Het
Trpc1	A	G	9: 95,603,303 (GRCm39)	Y410H	probably damaging	Het
Ush2a	A	G	1: 188,089,043 (GRCm39)	N333D	probably benign	Het
Usp34	T	C	11: 23,402,520 (GRCm39)	S2438P	probably damaging	Het
Vps35l	T	C	7: 118,353,072 (GRCm39)	V189A	probably benign	Het
Zfp7	G	A	15: 76,774,810 (GRCm39)	G284D	possibly damaging	Het
Zfyve26	A	G	12: 79,286,776 (GRCm39)	S2271P	probably damaging	Het
Zscan18	G	A	7: 12,509,147 (GRCm39)		probably benign	Het

Other mutations in Zbtb17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01137:Zbtb17	APN	4	141,193,678 (GRCm39)	nonsense	probably null
IGL01449:Zbtb17	APN	4	141,190,616 (GRCm39)	missense	probably benign
IGL01835:Zbtb17	APN	4	141,192,749 (GRCm39)	critical splice donor site	probably null
IGL02141:Zbtb17	APN	4	141,192,264 (GRCm39)	missense	probably damaging	1.00
IGL02142:Zbtb17	APN	4	141,192,293 (GRCm39)	missense	probably benign	0.29
IGL02167:Zbtb17	APN	4	141,189,140 (GRCm39)	missense	possibly damaging	0.94
IGL02388:Zbtb17	APN	4	141,189,224 (GRCm39)	missense	probably damaging	1.00
IGL02600:Zbtb17	APN	4	141,194,196 (GRCm39)	missense	possibly damaging	0.50
IGL02617:Zbtb17	APN	4	141,192,399 (GRCm39)	missense	probably damaging	0.97
IGL03290:Zbtb17	APN	4	141,194,244 (GRCm39)	missense	probably damaging	1.00
IGL03391:Zbtb17	APN	4	141,194,069 (GRCm39)	missense	probably damaging	1.00
IGL02799:Zbtb17	UTSW	4	141,190,691 (GRCm39)	missense	probably benign	0.20
R0698:Zbtb17	UTSW	4	141,193,407 (GRCm39)	splice site	probably null
R0736:Zbtb17	UTSW	4	141,189,097 (GRCm39)	missense	probably damaging	1.00
R1924:Zbtb17	UTSW	4	141,191,914 (GRCm39)	missense	probably damaging	1.00
R1940:Zbtb17	UTSW	4	141,192,859 (GRCm39)	missense	possibly damaging	0.83
R2164:Zbtb17	UTSW	4	141,191,557 (GRCm39)	missense	probably benign
R2517:Zbtb17	UTSW	4	141,191,896 (GRCm39)	missense	probably damaging	1.00
R3424:Zbtb17	UTSW	4	141,192,299 (GRCm39)	missense	probably damaging	0.99
R3884:Zbtb17	UTSW	4	141,191,886 (GRCm39)	missense	probably damaging	1.00
R4609:Zbtb17	UTSW	4	141,193,809 (GRCm39)	missense	probably damaging	1.00
R5055:Zbtb17	UTSW	4	141,193,860 (GRCm39)	missense	possibly damaging	0.68
R5327:Zbtb17	UTSW	4	141,192,942 (GRCm39)	missense	probably benign	0.22
R5363:Zbtb17	UTSW	4	141,194,072 (GRCm39)	missense	probably benign	0.02
R5987:Zbtb17	UTSW	4	141,192,128 (GRCm39)	missense	possibly damaging	0.94
R6038:Zbtb17	UTSW	4	141,191,752 (GRCm39)	missense	probably benign	0.05
R6038:Zbtb17	UTSW	4	141,191,752 (GRCm39)	missense	probably benign	0.05
R6311:Zbtb17	UTSW	4	141,190,694 (GRCm39)	missense	probably benign	0.00
R6321:Zbtb17	UTSW	4	141,190,694 (GRCm39)	missense	probably benign	0.00
R6322:Zbtb17	UTSW	4	141,190,694 (GRCm39)	missense	probably benign	0.00
R6337:Zbtb17	UTSW	4	141,190,694 (GRCm39)	missense	probably benign	0.00
R6365:Zbtb17	UTSW	4	141,190,694 (GRCm39)	missense	probably benign	0.00
R6492:Zbtb17	UTSW	4	141,190,694 (GRCm39)	missense	probably benign	0.00
R6605:Zbtb17	UTSW	4	141,192,261 (GRCm39)	missense	probably damaging	0.99
R6695:Zbtb17	UTSW	4	141,189,110 (GRCm39)	missense	probably damaging	1.00
R7717:Zbtb17	UTSW	4	141,193,394 (GRCm39)	missense	probably damaging	1.00
R7999:Zbtb17	UTSW	4	141,189,134 (GRCm39)	missense	probably damaging	1.00
R8542:Zbtb17	UTSW	4	141,194,139 (GRCm39)	unclassified	probably benign
R8544:Zbtb17	UTSW	4	141,194,139 (GRCm39)	unclassified	probably benign
R8545:Zbtb17	UTSW	4	141,194,139 (GRCm39)	unclassified	probably benign
R8836:Zbtb17	UTSW	4	141,189,233 (GRCm39)	missense	possibly damaging	0.68
R9072:Zbtb17	UTSW	4	141,193,676 (GRCm39)	missense	possibly damaging	0.50
R9073:Zbtb17	UTSW	4	141,193,676 (GRCm39)	missense	possibly damaging	0.50
R9389:Zbtb17	UTSW	4	141,193,131 (GRCm39)	missense	possibly damaging	0.89
R9785:Zbtb17	UTSW	4	141,194,271 (GRCm39)	missense	possibly damaging	0.64
Z1176:Zbtb17	UTSW	4	141,190,990 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACACTAGAGAAGTACCTAGGGGTC -3'
(R):5'- TTATGGGCGTGCATACCACC -3'

Sequencing Primer
(F):5'- AAGTACCTAGGGGTCCTGAG -3'
(R):5'- GTGCATACCACCAACCTCTCAG -3'

Posted On

2018-04-02