Mutagenetix > Incidental Mutation

Incidental Mutation 'R9072:Zbtb17'

689587

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

068894-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9072 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

141171984-141195248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141193676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 607 (C607S)

Ref Sequence

ENSEMBL: ENSMUSP00000006377 (fasta)

Gene Model

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

AlphaFold

Q60821

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006377
AA Change: C607S

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000006377
Gene: ENSMUSG00000006215
AA Change: C607S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,921,374 (GRCm39)	Y190*	probably null	Het
Agbl3	T	C	6: 34,776,387 (GRCm39)	C298R	probably damaging	Het
Ankrd26	T	A	6: 118,500,350 (GRCm39)	K1040N	probably damaging	Het
Ano3	T	A	2: 110,576,243 (GRCm39)	T93S	probably benign	Het
Apoc3	T	A	9: 46,144,532 (GRCm39)	I97F	probably benign	Het
Arid5a	A	G	1: 36,358,626 (GRCm39)	E401G	probably benign	Het
Atxn3	T	C	12: 101,903,730 (GRCm39)		probably null	Het
Brca1	C	T	11: 101,393,306 (GRCm39)		probably null	Het
C1ql3	T	A	2: 13,015,198 (GRCm39)	N154I	probably damaging	Het
Ccdc110	A	T	8: 46,395,875 (GRCm39)	M589L	probably benign	Het
Ccnb2	A	T	9: 70,318,095 (GRCm39)	F226I	possibly damaging	Het
Commd8	TTGTCATCT	TT	5: 72,318,327 (GRCm39)		probably null	Het
Dis3	T	C	14: 99,332,647 (GRCm39)	T262A	probably benign	Het
Eif4a2	G	A	16: 22,929,403 (GRCm39)	R234Q	probably benign	Het
Ephx2	G	A	14: 66,323,688 (GRCm39)	R481*	probably null	Het
Fbxo15	T	C	18: 84,983,645 (GRCm39)	I331T	possibly damaging	Het
Gfra2	A	G	14: 71,138,935 (GRCm39)	E121G	possibly damaging	Het
Git1	G	A	11: 77,389,901 (GRCm39)	A55T	probably benign	Het
Hfm1	T	C	5: 107,046,146 (GRCm39)	I553V	probably benign	Het
Hydin	G	A	8: 110,994,083 (GRCm39)		probably null	Het
Iqgap3	A	G	3: 88,016,773 (GRCm39)	N1085S		Het
Kbtbd12	T	C	6: 88,595,422 (GRCm39)	Y136C	probably damaging	Het
Kcng3	A	G	17: 83,938,423 (GRCm39)	Y209H	possibly damaging	Het
Kcnj2	A	T	11: 110,962,664 (GRCm39)	M19L	possibly damaging	Het
Lonrf2	A	T	1: 38,850,867 (GRCm39)	F232I	probably damaging	Het
Lrrc31	T	C	3: 30,753,859 (GRCm39)	D14G	probably benign	Het
Ly6l	G	A	15: 75,321,585 (GRCm39)	V62I	possibly damaging	Het
Marchf8	T	C	6: 116,378,884 (GRCm39)	F273L	probably benign	Het
Masp1	A	C	16: 23,288,671 (GRCm39)	S710A	probably benign	Het
Mcm10	G	A	2: 5,013,414 (GRCm39)	R73C	possibly damaging	Het
Mcm5	G	A	8: 75,852,934 (GRCm39)	R682H	probably damaging	Het
Mink1	C	T	11: 70,499,207 (GRCm39)	T684I	possibly damaging	Het
Mocos	A	T	18: 24,797,089 (GRCm39)	Q83L	probably damaging	Het
Nags	T	C	11: 102,038,347 (GRCm39)	L351P	probably damaging	Het
Nalcn	G	A	14: 123,532,863 (GRCm39)	T1299I	possibly damaging	Het
Nlrp4b	A	G	7: 10,459,870 (GRCm39)	D824G	probably benign	Het
Nwd1	A	T	8: 73,422,046 (GRCm39)	M1031L	probably benign	Het
Or11g27	C	T	14: 50,771,211 (GRCm39)	T114I	probably benign	Het
Or4c101	A	C	2: 88,390,658 (GRCm39)	I271L	probably benign	Het
Or4k40	A	T	2: 111,250,705 (GRCm39)	I197N	possibly damaging	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Or5b112	A	G	19: 13,319,238 (GRCm39)	T39A	possibly damaging	Het
Or5d37	T	A	2: 87,924,172 (GRCm39)	Q36L	probably benign	Het
Pan2	T	C	10: 128,151,050 (GRCm39)	M807T	probably damaging	Het
Parp8	A	T	13: 117,047,951 (GRCm39)	I222N	probably damaging	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Pou1f1	T	C	16: 65,328,833 (GRCm39)	L186P		Het
Ppargc1b	G	A	18: 61,443,730 (GRCm39)	R494W	probably damaging	Het
Prg4	G	T	1: 150,331,288 (GRCm39)	P462T	unknown	Het
Ptcd1	T	A	5: 145,091,525 (GRCm39)	I525L	probably benign	Het
Ptchd4	A	T	17: 42,813,650 (GRCm39)	Y517F	probably damaging	Het
Pum1	T	C	4: 130,480,172 (GRCm39)	F693S	probably damaging	Het
Ribc2	A	C	15: 85,022,163 (GRCm39)	Q186P	probably damaging	Het
Sesn2	C	A	4: 132,224,195 (GRCm39)		probably null	Het
Sgf29	G	A	7: 126,271,826 (GRCm39)	V284M	probably damaging	Het
Skap2	C	T	6: 51,856,750 (GRCm39)		probably null	Het
Smap1	T	A	1: 23,961,154 (GRCm39)	E28V	probably damaging	Het
Smc3	A	G	19: 53,617,200 (GRCm39)	N538D	probably benign	Het
Spen	T	C	4: 141,203,702 (GRCm39)	T1642A	unknown	Het
Spred3	G	A	7: 28,865,955 (GRCm39)	R115*	probably null	Het
Sugt1	T	A	14: 79,866,293 (GRCm39)	M304K	possibly damaging	Het
Sval1	T	C	6: 41,928,606 (GRCm39)	I6T	possibly damaging	Het
Svil	T	C	18: 5,097,500 (GRCm39)	I1574T	probably benign	Het
Tinag	T	A	9: 76,904,300 (GRCm39)		probably null	Het
Trak1	T	C	9: 121,289,554 (GRCm39)	L622P	probably damaging	Het
Ttn	C	T	2: 76,586,218 (GRCm39)	D21838N	probably damaging	Het
Ttn	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	2: 76,746,150 (GRCm39)		probably benign	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn1r73	C	T	7: 11,490,203 (GRCm39)	A7V	probably benign	Het
Yy1	G	T	12: 108,759,921 (GRCm39)	G195C	probably benign	Het
Zfp735	T	C	11: 73,603,060 (GRCm39)	V668A	probably benign	Het
Zfp819	C	A	7: 43,266,570 (GRCm39)	T351K	probably damaging	Het
Zfp820	C	A	17: 22,039,031 (GRCm39)	S99I	possibly damaging	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
R6320: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
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'- GGAGCCTTGAGGTACACATG -3'
(R):5'- ACCCCATTGTTGCCACTGAG -3'

Sequencing Primer
(F):5'- TGGCTGCCTTAGAGAACT -3'
(R):5'- ACACCTGTTAGCTGAGTGAC -3'

Posted On

2021-11-19