Mutagenetix > Incidental Mutation

Incidental Mutation 'R5987:Zbtb17'

481718

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

044167-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5987 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

141444654-141467930 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141464817 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 358 (C358R)

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: C358R

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000006377
Gene: ENSMUSG00000006215
AA Change: C358R

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: ENSMUST00000147227

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.2%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	C	1: 71,258,098 (GRCm38)	L2411R	probably damaging	Het
Als2	A	G	1: 59,206,587 (GRCm38)	W577R	probably damaging	Het
Aox2	C	A	1: 58,307,359 (GRCm38)	R551S	probably benign	Het
Areg	A	T	5: 91,146,718 (GRCm38)	H245L	possibly damaging	Het
Arhgap35	T	C	7: 16,563,467 (GRCm38)	T558A	possibly damaging	Het
Arhgef28	A	T	13: 97,936,860 (GRCm38)	C1322*	probably null	Het
Arhgef38	T	C	3: 133,206,958 (GRCm38)	R107G	possibly damaging	Het
Atf7ip	T	A	6: 136,571,502 (GRCm38)	F695L	probably damaging	Het
AW209491	C	T	13: 14,637,780 (GRCm38)	A406V	probably benign	Het
Bche	T	G	3: 73,648,678 (GRCm38)	Q549P	possibly damaging	Het
Blnk	A	G	19: 40,929,289 (GRCm38)	F417L	possibly damaging	Het
Bloc1s1	T	G	10: 128,923,386 (GRCm38)	K17T	probably damaging	Het
C330018D20Rik	G	T	18: 56,957,896 (GRCm38)	T65K	probably damaging	Het
Ccdc168	A	T	1: 44,057,257 (GRCm38)	N1560K	probably benign	Het
Cers1	T	A	8: 70,321,578 (GRCm38)	S162T	possibly damaging	Het
Cgn	T	C	3: 94,779,522 (GRCm38)	K157E	probably benign	Het
Cldn7	G	A	11: 69,967,668 (GRCm38)	R196Q	probably benign	Het
Clrn2	C	A	5: 45,454,027 (GRCm38)	Q73K	probably benign	Het
Cmss1	A	G	16: 57,302,245 (GRCm38)	V262A	probably benign	Het
Cpb2	T	A	14: 75,260,688 (GRCm38)	V97E	probably damaging	Het
Ctnnd2	G	A	15: 30,683,241 (GRCm38)	V463I	probably benign	Het
Cyp7a1	A	T	4: 6,268,476 (GRCm38)	S416R	probably benign	Het
Dip2b	C	T	15: 100,190,079 (GRCm38)	R965C	probably damaging	Het
Dkk3	T	C	7: 112,150,658 (GRCm38)	T102A	probably benign	Het
Dmap1	C	A	4: 117,680,842 (GRCm38)		probably null	Het
Dnah12	C	A	14: 26,886,871 (GRCm38)	D3872E	possibly damaging	Het
Dnah7b	A	G	1: 46,119,398 (GRCm38)		probably null	Het
Dnai1	C	T	4: 41,632,391 (GRCm38)	T575I	probably benign	Het
Dsg1a	T	A	18: 20,331,542 (GRCm38)	Y365N	probably damaging	Het
Dusp11	T	A	6: 85,959,233 (GRCm38)	K18*	probably null	Het
E2f2	A	T	4: 136,172,934 (GRCm38)	T52S	probably benign	Het
Elavl4	A	G	4: 110,290,644 (GRCm38)	L13S	probably benign	Het
Epor	T	C	9: 21,962,276 (GRCm38)	D59G	possibly damaging	Het
Eral1	A	G	11: 78,080,233 (GRCm38)	C43R	possibly damaging	Het
Fam135b	A	G	15: 71,490,848 (GRCm38)	V228A	probably benign	Het
Gba1	T	C	3: 89,205,822 (GRCm38)	S187P	probably damaging	Het
Gcc2	G	T	10: 58,255,847 (GRCm38)		probably benign	Het
Gdap2	C	A	3: 100,202,256 (GRCm38)		probably benign	Het
Gm10271	A	T	10: 116,972,592 (GRCm38)	F6L	probably damaging	Het
Gm10801	C	CGTG	2: 98,663,807 (GRCm38)		probably null	Het
Gpr160	T	C	3: 30,896,463 (GRCm38)	L228P	probably benign	Het
Gsdmc2	A	C	15: 63,830,866 (GRCm38)	V184G	probably benign	Het
Gtf2e2	A	T	8: 33,776,052 (GRCm38)	K252M	probably damaging	Het
Gtf2e2	G	T	8: 33,776,053 (GRCm38)	K252N	probably benign	Het
Gys1	T	C	7: 45,438,105 (GRCm38)	Y102H	probably benign	Het
H4c2	A	G	13: 23,757,226 (GRCm38)	D69G	probably damaging	Het
Ifit3b	A	C	19: 34,612,198 (GRCm38)	D258A	probably damaging	Het
Itpr3	T	A	17: 27,104,601 (GRCm38)	M1200K	probably damaging	Het
Kcng4	A	T	8: 119,626,359 (GRCm38)	F271I	probably damaging	Het
Klhdc2	C	T	12: 69,303,613 (GRCm38)	S144L	possibly damaging	Het
Lhcgr	A	G	17: 88,755,578 (GRCm38)	F222S	probably damaging	Het
Lrp5	C	G	19: 3,628,299 (GRCm38)	G519R	probably damaging	Het
Magel2	T	C	7: 62,378,767 (GRCm38)	V473A	probably benign	Het
Map1a	T	C	2: 121,304,295 (GRCm38)	V1864A	possibly damaging	Het
Mast4	T	A	13: 102,758,734 (GRCm38)	Q760H	probably damaging	Het
Mertk	A	G	2: 128,771,374 (GRCm38)	N437D	probably benign	Het
Mettl18	G	A	1: 163,996,775 (GRCm38)	V222I	probably benign	Het
Mical2	C	T	7: 112,334,948 (GRCm38)	T782M	probably benign	Het
Mocos	T	A	18: 24,686,693 (GRCm38)	V664E	probably damaging	Het
Neb	G	T	2: 52,295,294 (GRCm38)	N975K	probably benign	Het
Nectin3	A	T	16: 46,464,145 (GRCm38)	S59T	probably benign	Het
Nelfb	A	T	2: 25,203,888 (GRCm38)	M11K	probably damaging	Het
Nrp1	A	G	8: 128,476,169 (GRCm38)	N545S	probably damaging	Het
Or10ak11	T	C	4: 118,830,281 (GRCm38)	D53G	probably damaging	Het
Or2g1	T	A	17: 37,796,357 (GRCm38)	N304K	probably benign	Het
Or51b4	T	A	7: 103,881,700 (GRCm38)	D181V	probably damaging	Het
Or5b117	A	T	19: 13,453,960 (GRCm38)	S186T	possibly damaging	Het
Or5p67	T	A	7: 108,323,047 (GRCm38)	T210S	probably benign	Het
Or6c70	A	T	10: 129,874,521 (GRCm38)	F79I	probably damaging	Het
Or8g53	T	C	9: 39,772,540 (GRCm38)	T87A	probably benign	Het
P3h1	A	G	4: 119,246,665 (GRCm38)	H587R	probably damaging	Het
Paqr4	A	G	17: 23,739,858 (GRCm38)		probably null	Het
Pde12	A	G	14: 26,669,098 (GRCm38)	V152A	probably benign	Het
Ppip5k1	C	A	2: 121,350,491 (GRCm38)	E45*	probably null	Het
Ptch2	C	T	4: 117,110,057 (GRCm38)	A677V	probably benign	Het
Rgs12	A	G	5: 35,020,345 (GRCm38)	N93S	probably damaging	Het
Rif1	C	G	2: 52,095,844 (GRCm38)	L614V	probably damaging	Het
Rnf32	T	C	5: 29,203,147 (GRCm38)	S125P	probably damaging	Het
Robo4	A	G	9: 37,411,400 (GRCm38)	I850V	probably damaging	Het
Scap	T	A	9: 110,381,151 (GRCm38)	I876N	probably damaging	Het
Sin3a	A	G	9: 57,127,200 (GRCm38)	D1219G	possibly damaging	Het
Skint5	T	C	4: 113,885,808 (GRCm38)	E354G	unknown	Het
Spart	A	G	3: 55,126,541 (GRCm38)	D396G	probably benign	Het
Spindoc	G	A	19: 7,373,659 (GRCm38)	S311L	probably benign	Het
Spta1	G	T	1: 174,223,328 (GRCm38)	R1791L	probably damaging	Het
Tbck	T	C	3: 132,801,517 (GRCm38)	I750T	possibly damaging	Het
Tmem191	T	C	16: 17,276,470 (GRCm38)		probably null	Het
Trgv1	A	T	13: 19,340,304 (GRCm38)	Y66F	probably benign	Het
Vmn2r125	A	G	4: 156,349,997 (GRCm38)	Y26C	probably damaging	Het
Zfp180	G	A	7: 24,105,434 (GRCm38)	G426E	probably damaging	Het
Zfp445	A	G	9: 122,853,886 (GRCm38)	V330A	probably benign	Het
Zfp595	A	G	13: 67,317,624 (GRCm38)	C192R	probably damaging	Het
Zkscan4	A	G	13: 21,484,453 (GRCm38)	H387R	probably damaging	Het

Other mutations in Zbtb17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01137:Zbtb17	APN	4	141,466,367 (GRCm38)	nonsense	probably null
IGL01449:Zbtb17	APN	4	141,463,305 (GRCm38)	missense	probably benign
IGL01835:Zbtb17	APN	4	141,465,438 (GRCm38)	critical splice donor site	probably null
IGL02141:Zbtb17	APN	4	141,464,953 (GRCm38)	missense	probably damaging	1.00
IGL02142:Zbtb17	APN	4	141,464,982 (GRCm38)	missense	probably benign	0.29
IGL02167:Zbtb17	APN	4	141,461,829 (GRCm38)	missense	possibly damaging	0.94
IGL02388:Zbtb17	APN	4	141,461,913 (GRCm38)	missense	probably damaging	1.00
IGL02600:Zbtb17	APN	4	141,466,885 (GRCm38)	missense	possibly damaging	0.50
IGL02617:Zbtb17	APN	4	141,465,088 (GRCm38)	missense	probably damaging	0.97
IGL03290:Zbtb17	APN	4	141,466,933 (GRCm38)	missense	probably damaging	1.00
IGL03391:Zbtb17	APN	4	141,466,758 (GRCm38)	missense	probably damaging	1.00
IGL02799:Zbtb17	UTSW	4	141,463,380 (GRCm38)	missense	probably benign	0.20
R0698:Zbtb17	UTSW	4	141,466,096 (GRCm38)	splice site	probably null
R0736:Zbtb17	UTSW	4	141,461,786 (GRCm38)	missense	probably damaging	1.00
R1924:Zbtb17	UTSW	4	141,464,603 (GRCm38)	missense	probably damaging	1.00
R1940:Zbtb17	UTSW	4	141,465,548 (GRCm38)	missense	possibly damaging	0.83
R2164:Zbtb17	UTSW	4	141,464,246 (GRCm38)	missense	probably benign
R2517:Zbtb17	UTSW	4	141,464,585 (GRCm38)	missense	probably damaging	1.00
R3424:Zbtb17	UTSW	4	141,464,988 (GRCm38)	missense	probably damaging	0.99
R3884:Zbtb17	UTSW	4	141,464,575 (GRCm38)	missense	probably damaging	1.00
R4609:Zbtb17	UTSW	4	141,466,498 (GRCm38)	missense	probably damaging	1.00
R5055:Zbtb17	UTSW	4	141,466,549 (GRCm38)	missense	possibly damaging	0.68
R5327:Zbtb17	UTSW	4	141,465,631 (GRCm38)	missense	probably benign	0.22
R5363:Zbtb17	UTSW	4	141,466,761 (GRCm38)	missense	probably benign	0.02
R6038:Zbtb17	UTSW	4	141,464,441 (GRCm38)	missense	probably benign	0.05
R6038:Zbtb17	UTSW	4	141,464,441 (GRCm38)	missense	probably benign	0.05
R6311:Zbtb17	UTSW	4	141,463,383 (GRCm38)	missense	probably benign	0.00
R6320:Zbtb17	UTSW	4	141,463,383 (GRCm38)	missense	probably benign	0.00
R6321:Zbtb17	UTSW	4	141,463,383 (GRCm38)	missense	probably benign	0.00
R6322:Zbtb17	UTSW	4	141,463,383 (GRCm38)	missense	probably benign	0.00
R6337:Zbtb17	UTSW	4	141,463,383 (GRCm38)	missense	probably benign	0.00
R6365:Zbtb17	UTSW	4	141,463,383 (GRCm38)	missense	probably benign	0.00
R6492:Zbtb17	UTSW	4	141,463,383 (GRCm38)	missense	probably benign	0.00
R6605:Zbtb17	UTSW	4	141,464,950 (GRCm38)	missense	probably damaging	0.99
R6695:Zbtb17	UTSW	4	141,461,799 (GRCm38)	missense	probably damaging	1.00
R7717:Zbtb17	UTSW	4	141,466,083 (GRCm38)	missense	probably damaging	1.00
R7999:Zbtb17	UTSW	4	141,461,823 (GRCm38)	missense	probably damaging	1.00
R8542:Zbtb17	UTSW	4	141,466,828 (GRCm38)	unclassified	probably benign
R8544:Zbtb17	UTSW	4	141,466,828 (GRCm38)	unclassified	probably benign
R8545:Zbtb17	UTSW	4	141,466,828 (GRCm38)	unclassified	probably benign
R8836:Zbtb17	UTSW	4	141,461,922 (GRCm38)	missense	possibly damaging	0.68
R9072:Zbtb17	UTSW	4	141,466,365 (GRCm38)	missense	possibly damaging	0.50
R9073:Zbtb17	UTSW	4	141,466,365 (GRCm38)	missense	possibly damaging	0.50
R9389:Zbtb17	UTSW	4	141,465,820 (GRCm38)	missense	possibly damaging	0.89
R9785:Zbtb17	UTSW	4	141,466,960 (GRCm38)	missense	possibly damaging	0.64
Z1176:Zbtb17	UTSW	4	141,463,679 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGAACTTCAAACGGCACATC -3'
(R):5'- ACAGTAGTCGCACTGGTAGG -3'

Sequencing Primer
(F):5'- AACCTTTCTCATGCAGGGAG -3'
(R):5'- GGTTTCTGGCCACTGTGTACC -3'

Posted On

2017-06-26