Mutagenetix > Incidental Mutation

Incidental Mutation 'R5055:Zbtb17'

390762

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

042645-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141171984-141195248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141193860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 668 (Q668R)

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: Q668R

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000006377
Gene: ENSMUSG00000006215
AA Change: Q668R

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: ENSMUST00000142695

Meta Mutation Damage Score

0.4260

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

Validation Efficiency

98% (84/86)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	G	A	11: 46,013,996 (GRCm39)	V329I	probably damaging	Het
Adgrl3	C	A	5: 81,794,398 (GRCm39)	A541E	possibly damaging	Het
Agbl1	A	T	7: 76,063,325 (GRCm39)	I263F	probably damaging	Het
Ash1l	T	C	3: 88,930,519 (GRCm39)		probably null	Het
Bccip	A	G	7: 133,316,652 (GRCm39)	T91A	probably benign	Het
Bnc1	A	T	7: 81,624,163 (GRCm39)	F355I	probably damaging	Het
Bpifa2	A	T	2: 153,855,630 (GRCm39)	D185V	probably damaging	Het
Capn8	T	A	1: 182,399,526 (GRCm39)	V89D	probably damaging	Het
Cfap46	A	T	7: 139,241,106 (GRCm39)	M421K	probably damaging	Het
Chd2	A	T	7: 73,130,256 (GRCm39)	L800M	probably damaging	Het
Chd4	A	G	6: 125,077,949 (GRCm39)	D137G	possibly damaging	Het
Crtap	A	G	9: 114,219,208 (GRCm39)	Y154H	probably benign	Het
Ctdp1	T	A	18: 80,499,303 (GRCm39)	Q213L	probably damaging	Het
Cts6	T	C	13: 61,344,164 (GRCm39)	Y296C	probably damaging	Het
Daxx	G	T	17: 34,131,134 (GRCm39)	V354F	probably benign	Het
Dnah2	A	G	11: 69,411,599 (GRCm39)	I341T	possibly damaging	Het
Epha2	A	G	4: 141,036,380 (GRCm39)	D272G	probably benign	Het
Etfa	A	G	9: 55,407,417 (GRCm39)	V24A	probably damaging	Het
Fbxl7	C	A	15: 26,553,022 (GRCm39)	G82W	probably damaging	Het
Fcamr	G	A	1: 130,739,174 (GRCm39)	C158Y	probably damaging	Het
Fyb1	A	C	15: 6,614,630 (GRCm39)		probably benign	Het
Gars1	G	A	6: 55,045,077 (GRCm39)	R454H	probably damaging	Het
Ghsr	T	C	3: 27,426,421 (GRCm39)	V159A	probably benign	Het
Glp1r	A	T	17: 31,137,861 (GRCm39)	Q97H	probably benign	Het
Gm27047	T	C	6: 130,606,909 (GRCm39)		noncoding transcript	Het
Igkv3-3	A	C	6: 70,664,223 (GRCm39)	I22L	probably benign	Het
Inpp5b	G	T	4: 124,636,824 (GRCm39)		probably null	Het
Ipo9	C	A	1: 135,330,097 (GRCm39)	E448*	probably null	Het
Itgb2l	A	T	16: 96,229,003 (GRCm39)	I400N	probably damaging	Het
Kat6b	T	A	14: 21,567,062 (GRCm39)	H40Q	probably damaging	Het
Kcna7	G	A	7: 45,056,015 (GRCm39)	R77H	probably damaging	Het
Kcnq2	G	T	2: 180,728,554 (GRCm39)		probably benign	Het
Klf7	T	C	1: 64,118,439 (GRCm39)	T53A	probably benign	Het
Kmt2a	A	G	9: 44,729,649 (GRCm39)		probably benign	Het
Lrp10	C	T	14: 54,705,802 (GRCm39)	R331C	probably benign	Het
Map4k5	A	T	12: 69,878,332 (GRCm39)	D289E	probably benign	Het
Mfsd4b2	A	T	10: 39,799,773 (GRCm39)	M43K	possibly damaging	Het
Msr1	T	G	8: 40,076,997 (GRCm39)	R138S	possibly damaging	Het
Myh7b	G	C	2: 155,474,293 (GRCm39)	R1669S	possibly damaging	Het
Myh9	G	A	15: 77,648,723 (GRCm39)	A1711V	probably benign	Het
Myo18b	A	G	5: 113,023,083 (GRCm39)		probably benign	Het
Nampt	A	T	12: 32,883,120 (GRCm39)	N102Y	possibly damaging	Het
Nell2	T	C	15: 95,371,460 (GRCm39)	I92V	probably benign	Het
Nes	A	G	3: 87,884,521 (GRCm39)	N883D	probably benign	Het
Neurl3	T	A	1: 36,312,463 (GRCm39)		probably benign	Het
Ocln	T	A	13: 100,675,930 (GRCm39)	T188S	probably benign	Het
Or2ag20	T	A	7: 106,464,937 (GRCm39)	M250K	probably damaging	Het
Or5m10	T	C	2: 85,717,585 (GRCm39)	F147S	probably benign	Het
Parp14	T	A	16: 35,664,733 (GRCm39)	Q1305L	probably benign	Het
Pde3a	C	T	6: 141,433,682 (GRCm39)	Q855*	probably null	Het
Pde4b	T	C	4: 102,052,311 (GRCm39)		probably benign	Het
Pdk2	T	C	11: 94,930,242 (GRCm39)	M65V	probably benign	Het
Phf21a	T	C	2: 92,182,201 (GRCm39)	S377P	probably damaging	Het
Plcb2	T	A	2: 118,548,703 (GRCm39)	T408S	probably benign	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Ppp6r2	A	G	15: 89,167,152 (GRCm39)	D789G	probably benign	Het
Prdm16	T	C	4: 154,419,719 (GRCm39)	M897V	possibly damaging	Het
Prss57	A	G	10: 79,620,178 (GRCm39)		probably null	Het
Psd	G	T	19: 46,310,907 (GRCm39)	L381I	probably benign	Het
Ptprq	A	T	10: 107,370,540 (GRCm39)	D2050E	probably benign	Het
Rfc1	G	T	5: 65,423,505 (GRCm39)	N1034K	probably damaging	Het
Ryr3	C	T	2: 112,661,504 (GRCm39)	G1829S	probably benign	Het
Scaper	T	C	9: 55,767,003 (GRCm39)		probably null	Het
Scn5a	A	G	9: 119,351,632 (GRCm39)	I783T	probably damaging	Het
Slc28a1	A	G	7: 80,818,796 (GRCm39)	N583S	possibly damaging	Het
Slc35e3	C	T	10: 117,580,884 (GRCm39)	G140D	probably damaging	Het
Slc6a9	G	A	4: 117,725,347 (GRCm39)		probably null	Het
Sptlc1	A	G	13: 53,496,218 (GRCm39)	S376P	probably benign	Het
Sspo	G	A	6: 48,441,729 (GRCm39)	C1913Y	probably damaging	Het
Taar7b	A	T	10: 23,876,845 (GRCm39)	I337F	possibly damaging	Het
Tdpoz2	T	A	3: 93,559,235 (GRCm39)	I246F	probably damaging	Het
Trpa1	C	T	1: 14,946,183 (GRCm39)	V983M	probably damaging	Het
Trpm5	A	T	7: 142,626,521 (GRCm39)	M1112K	probably benign	Het
Tsbp1	G	A	17: 34,667,770 (GRCm39)	C154Y	possibly damaging	Het
Uso1	A	T	5: 92,340,594 (GRCm39)	K670I	probably benign	Het
Washc4	A	G	10: 83,392,771 (GRCm39)	D257G	probably damaging	Het
Wdr41	T	A	13: 95,151,725 (GRCm39)		probably null	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
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'- AGGAGAGAAGCCTTATTTGTGTGAC -3'
(R):5'- TTCCTGCACTTGCTTGACAG -3'

Sequencing Primer
(F):5'- ACAAATGTGGCCGTGGTTTCAAC -3'
(R):5'- GATCTCAGCTTTGAGTACTTCCG -3'

Posted On

2016-06-06