Mutagenetix > Incidental Mutation

Incidental Mutation 'R2164:Zbtb17'

235340

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

040167-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2164 (G1)

Quality Score

197

Status

Not validated

Chromosome

Chromosomal Location

141171984-141195248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141191557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 223 (V223A)

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: V223A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000006377
Gene: ENSMUSG00000006215
AA Change: V223A

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: ENSMUST00000147227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142695

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.6%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	CTGTAGGAAATCTTCAATGT	CTGT	11: 110,101,019 (GRCm39)		probably null	Het
Adcy8	C	T	15: 64,792,783 (GRCm39)	G58S	probably benign	Het
Adgra2	T	A	8: 27,604,232 (GRCm39)	L24*	probably null	Het
Ampd2	C	A	3: 107,992,685 (GRCm39)		probably benign	Het
Ankrd26	T	G	6: 118,502,752 (GRCm39)	E806A	probably damaging	Het
Apol9b	A	G	15: 77,619,639 (GRCm39)	D145G	probably benign	Het
Ash1l	T	A	3: 88,892,726 (GRCm39)	M1535K	probably benign	Het
Atf6	A	G	1: 170,622,304 (GRCm39)	M439T	probably damaging	Het
B3glct	A	T	5: 149,677,621 (GRCm39)	M417L	probably damaging	Het
Cep192	A	T	18: 67,953,431 (GRCm39)	T483S	probably damaging	Het
Cep290	G	A	10: 100,354,657 (GRCm39)	E914K	probably damaging	Het
Chst15	C	T	7: 131,872,114 (GRCm39)	A56T	probably damaging	Het
Col27a1	A	T	4: 63,143,661 (GRCm39)	T450S	probably benign	Het
Cpsf2	A	G	12: 101,951,594 (GRCm39)	N177S	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Ctc1	C	T	11: 68,926,441 (GRCm39)	A859V	possibly damaging	Het
Dcakd	A	G	11: 102,888,183 (GRCm39)	Y134H	possibly damaging	Het
Dctn3	G	T	4: 41,723,065 (GRCm39)	Y22*	probably null	Het
Dync2h1	T	A	9: 7,124,797 (GRCm39)	D2025V	probably damaging	Het
Dync2li1	T	C	17: 84,943,702 (GRCm39)	S92P	probably damaging	Het
Eml5	A	G	12: 98,853,356 (GRCm39)	V81A	probably damaging	Het
Espl1	C	T	15: 102,228,023 (GRCm39)	R1625C	probably damaging	Het
Fam181a	T	C	12: 103,282,785 (GRCm39)	V230A	probably benign	Het
Fanci	T	A	7: 79,045,743 (GRCm39)	D28E	probably benign	Het
Fmn1	A	G	2: 113,195,962 (GRCm39)	N554S	unknown	Het
Frem2	T	C	3: 53,444,751 (GRCm39)	Y2460C	probably damaging	Het
Fscb	G	A	12: 64,520,567 (GRCm39)	P300S	probably damaging	Het
Gm28042	A	G	2: 119,867,229 (GRCm39)	D438G	probably benign	Het
Ldaf1	A	G	7: 119,719,462 (GRCm39)	E157G	possibly damaging	Het
Map1b	C	T	13: 99,565,846 (GRCm39)	V2292M	unknown	Het
Nbas	A	G	12: 13,380,647 (GRCm39)	D635G	possibly damaging	Het
Ncapg2	A	G	12: 116,414,095 (GRCm39)		probably null	Het
Nrp2	A	T	1: 62,783,514 (GRCm39)	E205V	probably damaging	Het
Pcdhb3	A	T	18: 37,435,239 (GRCm39)	T402S	possibly damaging	Het
Phc1	T	C	6: 122,299,296 (GRCm39)	N638D	possibly damaging	Het
Plcb1	A	G	2: 135,188,250 (GRCm39)	N781S	possibly damaging	Het
Prkdc	T	A	16: 15,523,071 (GRCm39)	D1164E	probably damaging	Het
Proser2	T	A	2: 6,105,506 (GRCm39)	R353W	possibly damaging	Het
Prxl2b	T	G	4: 154,982,606 (GRCm39)	Y56S	probably damaging	Het
Ptges	T	A	2: 30,782,708 (GRCm39)	T115S	probably benign	Het
Ptprk	A	T	10: 28,436,138 (GRCm39)	D833V	probably damaging	Het
Pum1	T	A	4: 130,455,394 (GRCm39)	L173*	probably null	Het
Pum1	G	T	4: 130,455,395 (GRCm39)	L269F	probably damaging	Het
Rasgrp4	A	G	7: 28,838,470 (GRCm39)	Y106C	probably damaging	Het
Rbbp6	T	A	7: 122,598,697 (GRCm39)		probably benign	Het
Rdh1	A	G	10: 127,596,041 (GRCm39)	T79A	possibly damaging	Het
Relb	A	C	7: 19,347,686 (GRCm39)		probably null	Het
Rnf122	G	A	8: 31,602,192 (GRCm39)	W6*	probably null	Het
Rnf31	A	G	14: 55,829,994 (GRCm39)	E138G	possibly damaging	Het
Scaf8	G	A	17: 3,247,485 (GRCm39)	R936Q	probably damaging	Het
Scube3	T	A	17: 28,385,108 (GRCm39)	V686D	possibly damaging	Het
Snrnp27	A	T	6: 86,653,196 (GRCm39)	C141S	probably benign	Het
Spns2	C	T	11: 72,349,497 (GRCm39)	V252M	possibly damaging	Het
Tomm40l	C	T	1: 171,047,703 (GRCm39)	S220N	probably damaging	Het
Trim17	A	G	11: 58,862,237 (GRCm39)	D423G	probably damaging	Het
Trpc6	A	AT	9: 8,610,466 (GRCm39)		probably null	Het
Tut4	G	A	4: 108,360,226 (GRCm39)	R481Q	possibly damaging	Het
Uba5	A	T	9: 103,937,442 (GRCm39)	M89K	probably damaging	Het
Vav2	T	C	2: 27,163,718 (GRCm39)	D628G	probably damaging	Het
Vmn2r107	T	C	17: 20,595,904 (GRCm39)	L819P	probably damaging	Het
Vmn2r25	A	T	6: 123,816,518 (GRCm39)	D354E	possibly damaging	Het
Xrn1	A	G	9: 95,888,873 (GRCm39)	E984G	possibly damaging	Het
Zfp592	T	C	7: 80,691,186 (GRCm39)	S1122P	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
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
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'- TCACAAGGACTTGGTTGGC -3'
(R):5'- TAAGCCTTGGACTCAGTGCG -3'

Sequencing Primer
(F):5'- ACTTGGTTGGCTGAAAATGC -3'
(R):5'- TTGGACTCAGTGCGATCCC -3'

Posted On

2014-10-01