Mutagenetix > Incidental Mutation

Incidental Mutation 'R7999:Zbtb17'

616247

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

046039-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7999 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

141171984-141195248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 141189134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 18 (R18Q)

Ref Sequence

ENSEMBL: ENSMUSP00000006377 (fasta)

Gene Model

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

AlphaFold

Q60821

Predicted Effect

probably damaging
Transcript: ENSMUST00000006377
AA Change: R18Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000006377
Gene: ENSMUSG00000006215
AA Change: R18Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	A	G	10: 20,841,580 (GRCm39)	E289G	probably benign	Het
Armc2	C	T	10: 41,887,954 (GRCm39)	E10K	possibly damaging	Het
Aspscr1	T	C	11: 120,569,348 (GRCm39)		probably null	Het
B3galnt1	A	G	3: 69,482,548 (GRCm39)	C238R	probably damaging	Het
Bak1	A	G	17: 27,240,280 (GRCm39)	L129P	probably damaging	Het
Bdp1	A	G	13: 100,195,404 (GRCm39)	F1272L	possibly damaging	Het
C2cd3	G	A	7: 100,109,096 (GRCm39)		probably null	Het
Cacna1b	A	T	2: 24,540,638 (GRCm39)	V1363E	probably damaging	Het
Capn11	T	C	17: 45,950,132 (GRCm39)	N344S	probably damaging	Het
Ces1f	A	T	8: 93,989,623 (GRCm39)	V431E	possibly damaging	Het
Cog3	G	T	14: 75,984,533 (GRCm39)	S94Y	possibly damaging	Het
Defa29	A	T	8: 21,816,859 (GRCm39)	S45T	probably benign	Het
Dnaaf9	C	A	2: 130,579,372 (GRCm39)	V753L	probably benign	Het
Dnah10	A	G	5: 124,802,322 (GRCm39)	D32G	probably benign	Het
Dnajc24	T	A	2: 105,811,365 (GRCm39)	N70I	probably damaging	Het
Duox2	C	T	2: 122,113,948 (GRCm39)	V1195I	probably benign	Het
Enam	A	T	5: 88,651,561 (GRCm39)	R1023S	probably benign	Het
Ephx4	A	T	5: 107,567,699 (GRCm39)	Q219L	probably damaging	Het
Eppk1	T	C	15: 75,993,204 (GRCm39)	T1226A	probably benign	Het
Eppk1	T	C	15: 75,993,335 (GRCm39)	Q1182R	probably benign	Het
Fiz1	A	T	7: 5,011,997 (GRCm39)	S174T	probably benign	Het
Ggnbp1	C	T	17: 27,248,619 (GRCm39)	R63C	probably benign	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gsdmd	T	A	15: 75,735,295 (GRCm39)	I13N	probably damaging	Het
Gtpbp4	T	C	13: 9,037,322 (GRCm39)	D292G	probably damaging	Het
Hnf1a	A	T	5: 115,098,233 (GRCm39)	L123*	probably null	Het
Ints11	A	G	4: 155,971,413 (GRCm39)	D309G	probably benign	Het
Ints5	T	C	19: 8,874,407 (GRCm39)	S789P	probably benign	Het
Jakmip2	G	A	18: 43,696,398 (GRCm39)	A517V	probably benign	Het
Kat7	A	G	11: 95,174,935 (GRCm39)	Y270H	probably damaging	Het
Kmt2b	A	G	7: 30,276,199 (GRCm39)	S1767P	probably damaging	Het
Lonp2	A	G	8: 87,361,537 (GRCm39)	D238G	probably benign	Het
Lrfn3	A	G	7: 30,059,449 (GRCm39)	W259R	probably damaging	Het
Mmrn2	G	A	14: 34,119,879 (GRCm39)	D250N	probably benign	Het
Mre11a	A	T	9: 14,710,965 (GRCm39)	R49*	probably null	Het
Mug1	T	C	6: 121,857,855 (GRCm39)	L1116P	possibly damaging	Het
Mup9	A	G	4: 60,374,202 (GRCm39)	S234P	probably benign	Het
Nlrp9c	A	G	7: 26,084,914 (GRCm39)	F222L	possibly damaging	Het
Nr2e3	A	G	9: 59,856,282 (GRCm39)	V85A	probably damaging	Het
Or4a79	A	G	2: 89,552,344 (GRCm39)	I37T	probably benign	Het
Prl3d2	A	G	13: 27,307,949 (GRCm39)	T77A	probably benign	Het
Prpsap1	A	T	11: 116,381,042 (GRCm39)	M1K	probably null	Het
Prrc2b	C	T	2: 32,084,426 (GRCm39)	T297M	probably damaging	Het
Rasa3	A	G	8: 13,681,805 (GRCm39)	F48S	probably benign	Het
Rbm24	A	T	13: 46,572,507 (GRCm39)	M1L	possibly damaging	Het
Ren1	C	A	1: 133,282,604 (GRCm39)	T103K	probably damaging	Het
Rpf2	C	T	10: 40,099,880 (GRCm39)	G260S	probably damaging	Het
Sall4	C	T	2: 168,594,561 (GRCm39)	G862D	probably damaging	Het
Samd4	G	T	14: 47,301,704 (GRCm39)	R336L	probably damaging	Het
Shoc1	G	C	4: 59,094,162 (GRCm39)	F187L	probably benign	Het
Siglec1	T	C	2: 130,913,083 (GRCm39)	N1611S	probably benign	Het
Skil	A	G	3: 31,151,751 (GRCm39)	H91R	possibly damaging	Het
Snip1	T	C	4: 124,965,174 (GRCm39)	V193A	probably benign	Het
Sp2	A	T	11: 96,852,663 (GRCm39)	I87N	probably damaging	Het
Syna	T	C	5: 134,588,046 (GRCm39)	H301R	probably benign	Het
Tdg	A	G	10: 82,477,216 (GRCm39)	K89R	possibly damaging	Het
Tdrd7	G	A	4: 46,010,902 (GRCm39)		probably null	Het
Trak1	G	A	9: 121,289,491 (GRCm39)	R601H	probably damaging	Het
Triobp	T	C	15: 78,844,144 (GRCm39)	L120P	probably damaging	Het
Utp20	A	T	10: 88,606,250 (GRCm39)	N1697K	probably benign	Het
Uts2r	G	A	11: 121,051,495 (GRCm39)	V120M	possibly damaging	Het
Vmn2r59	A	G	7: 41,696,256 (GRCm39)	L162P	probably damaging	Het
Zfp551	A	T	7: 12,151,138 (GRCm39)	C90*	probably null	Het
Zfp605	T	A	5: 110,276,300 (GRCm39)	C473S	probably damaging	Het
Zfp764l1	T	A	7: 126,991,600 (GRCm39)	S117C	probably damaging	Het
Zfp975	A	T	7: 42,312,356 (GRCm39)	Y86N	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
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
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'- AGTAAGTGTCTGGAGTCATCTGCC -3'
(R):5'- TAGAAGGGCCATGCGTGATG -3'

Sequencing Primer
(F):5'- GTAGAAAAGCCTCTCCCGTG -3'
(R):5'- ATGAGGCCCCAGCATGGTAC -3'

Posted On

2020-01-23