Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01449:Zbtb17'

84565

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zbtb17

Ensembl Gene

ENSMUSG00000006215

Gene Name

zinc finger and BTB domain containing 17

Synonyms

mZ13, Zfp100, Miz1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01449

Quality Score

Status

Chromosome

Chromosomal Location

141444654-141467930 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141463305 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 145 (T145A)

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: T145A

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

SMART Domains

Protein: ENSMUSP00000006377
Gene: ENSMUSG00000006215
AA Change: T145A

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: ENSMUST00000144899

Coding Region Coverage

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 72,444,849	L33F	probably benign	Het
Actr8	T	C	14: 29,990,970		probably null	Het
Aldh16a1	C	A	7: 45,141,967	A105S	probably damaging	Het
Angpt2	T	C	8: 18,710,625	T154A	probably benign	Het
BC051665	A	G	13: 60,782,704	V278A	probably damaging	Het
Cap1	T	C	4: 122,860,187	T458A	probably damaging	Het
Clcn3	A	T	8: 60,934,598	S179T	probably damaging	Het
Cyp2a22	T	C	7: 26,933,553	D408G	probably benign	Het
D430042O09Rik	T	A	7: 125,870,685	V1442D	probably damaging	Het
Fam217b	T	A	2: 178,421,150	S302R	probably damaging	Het
Fcho2	A	T	13: 98,789,807	D89E	probably benign	Het
Fnip1	C	T	11: 54,499,508	R434C	probably damaging	Het
Gga3	G	A	11: 115,589,102	T261M	probably damaging	Het
Gm21985	T	C	2: 112,339,396	F292L	probably damaging	Het
Gm43638	A	T	5: 87,486,215	S178T	possibly damaging	Het
Igkv10-95	G	A	6: 68,680,764	G68E	probably damaging	Het
Lpcat2	G	A	8: 92,871,147	R180Q	possibly damaging	Het
Muc6	C	T	7: 141,638,614	A1984T	possibly damaging	Het
Npy4r	T	A	14: 34,146,365	Y322F	probably damaging	Het
Nwd2	T	A	5: 63,805,594	H840Q	probably damaging	Het
Olfr844	G	A	9: 19,319,233	G233D	probably damaging	Het
Osbpl2	G	T	2: 180,145,194		probably benign	Het
Pclo	T	A	5: 14,678,516		probably benign	Het
Pold4	T	C	19: 4,232,867		probably benign	Het
Ppp1r16a	A	G	15: 76,694,294		probably benign	Het
Pprc1	C	T	19: 46,065,232		probably benign	Het
Prkcg	A	G	7: 3,319,619	D343G	probably benign	Het
Scaf11	A	C	15: 96,419,126	S852R	probably benign	Het
Slc31a2	C	T	4: 62,292,696	T22I	probably damaging	Het
Sox30	T	A	11: 45,981,342	D341E	probably damaging	Het
Tle4	A	G	19: 14,465,340	S339P	probably benign	Het
Tsg101	A	T	7: 46,908,925	Y78N	probably damaging	Het
Ttc1	T	A	11: 43,738,803	S179C	probably damaging	Het
Txnrd3	T	A	6: 89,654,147	S142T	probably benign	Het
Ubr4	C	A	4: 139,412,736	A1210E	probably damaging	Het
Uroc1	C	A	6: 90,338,653	P172Q	probably damaging	Het
Usp12	T	C	5: 146,754,440	D168G	probably benign	Het
Vmn1r32	T	A	6: 66,552,932	M287L	probably benign	Het
Vwa8	C	T	14: 79,182,988	Q1710*	probably null	Het
Wdfy4	T	A	14: 33,104,037	Q1219L	probably damaging	Het
Zfp697	T	C	3: 98,427,530	C204R	probably damaging	Het

Other mutations in Zbtb17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01137:Zbtb17	APN	4	141466367	nonsense	probably null
IGL01835:Zbtb17	APN	4	141465438	critical splice donor site	probably null
IGL02141:Zbtb17	APN	4	141464953	missense	probably damaging	1.00
IGL02142:Zbtb17	APN	4	141464982	missense	probably benign	0.29
IGL02167:Zbtb17	APN	4	141461829	missense	possibly damaging	0.94
IGL02388:Zbtb17	APN	4	141461913	missense	probably damaging	1.00
IGL02600:Zbtb17	APN	4	141466885	missense	possibly damaging	0.50
IGL02617:Zbtb17	APN	4	141465088	missense	probably damaging	0.97
IGL03290:Zbtb17	APN	4	141466933	missense	probably damaging	1.00
IGL03391:Zbtb17	APN	4	141466758	missense	probably damaging	1.00
IGL02799:Zbtb17	UTSW	4	141463380	missense	probably benign	0.20
R0698:Zbtb17	UTSW	4	141466096	splice site	probably null
R0736:Zbtb17	UTSW	4	141461786	missense	probably damaging	1.00
R1924:Zbtb17	UTSW	4	141464603	missense	probably damaging	1.00
R1940:Zbtb17	UTSW	4	141465548	missense	possibly damaging	0.83
R2164:Zbtb17	UTSW	4	141464246	missense	probably benign
R2517:Zbtb17	UTSW	4	141464585	missense	probably damaging	1.00
R3424:Zbtb17	UTSW	4	141464988	missense	probably damaging	0.99
R3884:Zbtb17	UTSW	4	141464575	missense	probably damaging	1.00
R4609:Zbtb17	UTSW	4	141466498	missense	probably damaging	1.00
R5055:Zbtb17	UTSW	4	141466549	missense	possibly damaging	0.68
R5327:Zbtb17	UTSW	4	141465631	missense	probably benign	0.22
R5363:Zbtb17	UTSW	4	141466761	missense	probably benign	0.02
R5987:Zbtb17	UTSW	4	141464817	missense	possibly damaging	0.94
R6038:Zbtb17	UTSW	4	141464441	missense	probably benign	0.05
R6038:Zbtb17	UTSW	4	141464441	missense	probably benign	0.05
R6311:Zbtb17	UTSW	4	141463383	missense	probably benign	0.00
R6320:Zbtb17	UTSW	4	141463383	missense	probably benign	0.00
R6321:Zbtb17	UTSW	4	141463383	missense	probably benign	0.00
R6322:Zbtb17	UTSW	4	141463383	missense	probably benign	0.00
R6337:Zbtb17	UTSW	4	141463383	missense	probably benign	0.00
R6365:Zbtb17	UTSW	4	141463383	missense	probably benign	0.00
R6492:Zbtb17	UTSW	4	141463383	missense	probably benign	0.00
R6605:Zbtb17	UTSW	4	141464950	missense	probably damaging	0.99
R6695:Zbtb17	UTSW	4	141461799	missense	probably damaging	1.00
R7717:Zbtb17	UTSW	4	141466083	missense	probably damaging	1.00
R7999:Zbtb17	UTSW	4	141461823	missense	probably damaging	1.00
R8542:Zbtb17	UTSW	4	141466828	unclassified	probably benign
R8544:Zbtb17	UTSW	4	141466828	unclassified	probably benign
R8545:Zbtb17	UTSW	4	141466828	unclassified	probably benign
R8836:Zbtb17	UTSW	4	141461922	missense	possibly damaging	0.68
R9072:Zbtb17	UTSW	4	141466365	missense	possibly damaging	0.50
R9073:Zbtb17	UTSW	4	141466365	missense	possibly damaging	0.50
R9389:Zbtb17	UTSW	4	141465820	missense	possibly damaging	0.89
R9785:Zbtb17	UTSW	4	141466960	missense	possibly damaging	0.64
Z1176:Zbtb17	UTSW	4	141463679	missense	probably benign	0.00

Posted On

2013-11-11