Mutagenetix > Incidental Mutation

Incidental Mutation 'R7216:Zmiz1'

561500

Institutional Source

Beutler Lab

Gene Symbol

Zmiz1

Ensembl Gene

ENSMUSG00000007817

Gene Name

zinc finger, MIZ-type containing 1

Synonyms

Rai17, Zimp10

MMRRC Submission

045288-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7216 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

25459609-25667167 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

GCC to GC at 25576624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124863 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007961] [ENSMUST00000162645]

AlphaFold

Q6P1E1

Predicted Effect

probably null
Transcript: ENSMUST00000007961

SMART Domains

Protein: ENSMUSP00000007961
Gene: ENSMUSG00000007817

Domain	Start	End	E-Value	Type
low complexity region	123	142	N/A	INTRINSIC
low complexity region	183	201	N/A	INTRINSIC
low complexity region	239	268	N/A	INTRINSIC
SCOP:d1gkub1	280	323	1e-3	SMART
low complexity region	431	446	N/A	INTRINSIC
low complexity region	483	495	N/A	INTRINSIC
low complexity region	498	505	N/A	INTRINSIC
low complexity region	511	526	N/A	INTRINSIC
Pfam:zf-Nse	731	786	3.5e-8	PFAM
Pfam:zf-MIZ	739	788	7.6e-26	PFAM
low complexity region	867	881	N/A	INTRINSIC
low complexity region	982	997	N/A	INTRINSIC
low complexity region	1039	1062	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000162645

SMART Domains

Protein: ENSMUSP00000124863
Gene: ENSMUSG00000007817

Domain	Start	End	E-Value	Type
low complexity region	123	142	N/A	INTRINSIC
low complexity region	183	201	N/A	INTRINSIC
low complexity region	239	268	N/A	INTRINSIC
SCOP:d1gkub1	280	309	2e-3	SMART
low complexity region	437	452	N/A	INTRINSIC
low complexity region	489	501	N/A	INTRINSIC
low complexity region	504	511	N/A	INTRINSIC
low complexity region	517	532	N/A	INTRINSIC
Pfam:zf-MIZ	745	794	2.1e-26	PFAM
low complexity region	873	887	N/A	INTRINSIC
low complexity region	988	1003	N/A	INTRINSIC
low complexity region	1045	1068	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis with failure of yolk sac vascular remodeling and abnormal embryonic vascular development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	T	A	12: 53,187,240 (GRCm39)	N1551K	probably benign	Het
Amy2a1	T	C	3: 113,324,090 (GRCm39)	D150G	possibly damaging	Het
Atp2b1	T	A	10: 98,822,839 (GRCm39)	C165S	probably benign	Het
Atp2c1	A	T	9: 105,344,930 (GRCm39)	D102E	probably benign	Het
Capn8	C	A	1: 182,426,363 (GRCm39)	R233S	possibly damaging	Het
Cd48	T	C	1: 171,523,390 (GRCm39)	S78P	probably damaging	Het
Clasp1	T	A	1: 118,475,648 (GRCm39)	D944E	probably benign	Het
Clip2	A	G	5: 134,531,771 (GRCm39)	M678T	probably benign	Het
Clmp	T	C	9: 40,672,205 (GRCm39)	Y12H	possibly damaging	Het
Col22a1	A	T	15: 71,845,694 (GRCm39)	V356D	probably damaging	Het
Copg2	A	T	6: 30,862,535 (GRCm39)	D101E	probably damaging	Het
Cpsf6	G	A	10: 117,197,928 (GRCm39)	P229S	unknown	Het
Dgke	T	C	11: 88,941,163 (GRCm39)	D340G	probably benign	Het
Dlg1	TAAA	TAA	16: 31,615,736 (GRCm39)		probably null	Het
Dlg5	G	A	14: 24,186,706 (GRCm39)	Q1865*	probably null	Het
Dnajc2	C	T	5: 21,981,777 (GRCm39)	R123Q	probably damaging	Het
Efcab3	A	T	11: 104,771,375 (GRCm39)	K2633N	possibly damaging	Het
Egln2	T	C	7: 26,859,254 (GRCm39)	D365G	probably damaging	Het
Epha4	T	C	1: 77,421,621 (GRCm39)	D287G	probably damaging	Het
Fat4	A	G	3: 38,945,192 (GRCm39)	T1362A	probably damaging	Het
Flt4	A	G	11: 49,525,508 (GRCm39)	T685A	possibly damaging	Het
Fras1	T	C	5: 96,887,173 (GRCm39)	Y2652H	probably damaging	Het
Gas2	A	G	7: 51,547,005 (GRCm39)	E52G	possibly damaging	Het
Gm5093	A	T	17: 46,751,014 (GRCm39)	D4E	not run	Het
Gm6370	A	T	5: 146,430,723 (GRCm39)	T303S	probably benign	Het
Gpr161	A	G	1: 165,134,115 (GRCm39)	I126V	probably benign	Het
Gpr63	T	C	4: 25,008,038 (GRCm39)	L254P	probably damaging	Het
H2-M9	C	T	17: 36,951,594 (GRCm39)	V294I	probably benign	Het
Insr	T	A	8: 3,253,034 (GRCm39)	N375I	possibly damaging	Het
Ints1	T	C	5: 139,754,739 (GRCm39)	N600S	possibly damaging	Het
Ints10	A	G	8: 69,274,809 (GRCm39)	N628S	probably damaging	Het
Irf2	A	G	8: 47,246,591 (GRCm39)	T20A	probably benign	Het
Irs1	T	A	1: 82,267,476 (GRCm39)	T247S	probably damaging	Het
Islr	C	T	9: 58,064,250 (GRCm39)	S419N	unknown	Het
Kcna2	T	A	3: 107,012,109 (GRCm39)	I230N	probably damaging	Het
Kif3c	C	A	12: 3,416,126 (GRCm39)	A49E	probably benign	Het
Kifap3	A	T	1: 163,623,558 (GRCm39)	K108N	probably damaging	Het
Lama3	T	A	18: 12,563,057 (GRCm39)	F527I	probably damaging	Het
Layn	A	G	9: 50,988,352 (GRCm39)		probably benign	Het
Lims2	G	T	18: 32,090,315 (GRCm39)	W276L	probably damaging	Het
Lsp1	T	C	7: 142,042,179 (GRCm39)	L133S	probably damaging	Het
Map3k6	T	G	4: 132,974,211 (GRCm39)	V536G	probably damaging	Het
Med7	T	A	11: 46,331,681 (GRCm39)	L92H	probably damaging	Het
Mllt1	A	G	17: 57,234,042 (GRCm39)	V48A	probably damaging	Het
Mtcl2	T	C	2: 156,860,290 (GRCm39)	R1650G	possibly damaging	Het
Neurl4	T	A	11: 69,801,088 (GRCm39)	V1153E	probably damaging	Het
Nkx2-1	A	C	12: 56,581,587 (GRCm39)	C87G	probably damaging	Het
Nsun7	T	C	5: 66,436,000 (GRCm39)	S291P	probably damaging	Het
Or10n1	A	T	9: 39,525,790 (GRCm39)	Q309L	probably benign	Het
Or13a18	A	T	7: 140,190,373 (GRCm39)	N90I	possibly damaging	Het
Or1p1c	A	T	11: 74,160,550 (GRCm39)	I112F	probably damaging	Het
Or4e1	G	A	14: 52,700,945 (GRCm39)	P174S	probably damaging	Het
Or7g17	T	A	9: 18,768,632 (GRCm39)	M237K	probably benign	Het
Pals1	G	A	12: 78,844,006 (GRCm39)	R70H	probably damaging	Het
Pbrm1	A	G	14: 30,767,379 (GRCm39)	Y331C	possibly damaging	Het
Pirb	T	A	7: 3,719,273 (GRCm39)	T539S	probably benign	Het
Plch2	T	G	4: 155,068,685 (GRCm39)	T1314P	probably benign	Het
Polk	T	C	13: 96,644,728 (GRCm39)	S133G	probably benign	Het
Pramel27	A	G	4: 143,578,399 (GRCm39)	I220V	probably damaging	Het
Prdm5	A	T	6: 65,904,967 (GRCm39)	K533*	probably null	Het
Prmt1	T	A	7: 44,632,997 (GRCm39)	Q35H	probably benign	Het
Pum3	A	T	19: 27,401,625 (GRCm39)	W142R	probably damaging	Het
Rest	G	A	5: 77,430,455 (GRCm39)	R958H	probably benign	Het
Rictor	C	T	15: 6,798,782 (GRCm39)	T343M	probably damaging	Het
Ripor2	G	A	13: 24,855,886 (GRCm39)	G109R	probably damaging	Het
Sec62	C	T	3: 30,872,978 (GRCm39)	Q354*	probably null	Het
Snx14	T	C	9: 88,263,844 (GRCm39)	Y847C	probably damaging	Het
Sox7	A	T	14: 64,185,438 (GRCm39)	D158V	probably benign	Het
Spag8	A	G	4: 43,652,034 (GRCm39)	V350A	possibly damaging	Het
Syngr1	A	T	15: 79,995,934 (GRCm39)	I158F	probably damaging	Het
Tacstd2	C	A	6: 67,511,979 (GRCm39)	V238L	probably benign	Het
Tex15	T	C	8: 34,063,014 (GRCm39)	S815P	possibly damaging	Het
Tmem117	A	T	15: 94,612,793 (GRCm39)	T110S	possibly damaging	Het
Tnrc6a	T	C	7: 122,770,718 (GRCm39)	I836T	probably benign	Het
Trim30b	C	A	7: 104,006,569 (GRCm39)	V96L	probably benign	Het
Tssk3	TGCTATCATGGGG	TG	4: 129,383,106 (GRCm39)		probably null	Het
Tyk2	G	T	9: 21,031,822 (GRCm39)	H418N	probably benign	Het
Uap1	G	T	1: 169,986,472 (GRCm39)	T170K	probably damaging	Het
Vmn1r40	T	C	6: 89,691,606 (GRCm39)	V141A	not run	Het
Vmn1r54	T	A	6: 90,246,647 (GRCm39)	I187K	probably damaging	Het
Vmp1	C	T	11: 86,492,859 (GRCm39)	V317M	probably damaging	Het
Wnt8b	A	G	19: 44,500,511 (GRCm39)	K366R	probably benign	Het
Zfp207	C	T	11: 80,286,004 (GRCm39)	P415L	unknown	Het
Zfp263	A	G	16: 3,562,435 (GRCm39)	E66G	probably damaging	Het
Zfp764l1	A	G	7: 126,990,695 (GRCm39)	S431P	probably benign	Het
Zfp985	T	A	4: 147,667,913 (GRCm39)	H260Q	probably damaging	Het

Other mutations in Zmiz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00553:Zmiz1	APN	14	25,572,494 (GRCm39)	start codon destroyed	probably null	0.53
IGL01582:Zmiz1	APN	14	25,658,654 (GRCm39)	missense	probably benign	0.00
IGL01601:Zmiz1	APN	14	25,582,068 (GRCm39)	missense	possibly damaging	0.68
IGL02008:Zmiz1	APN	14	25,657,303 (GRCm39)	missense	probably damaging	0.97
IGL02395:Zmiz1	APN	14	25,657,187 (GRCm39)	missense	probably damaging	1.00
IGL02836:Zmiz1	APN	14	25,657,166 (GRCm39)	splice site	probably benign
zapp	UTSW	14	25,663,404 (GRCm39)	missense	unknown
R0144:Zmiz1	UTSW	14	25,655,671 (GRCm39)	missense	probably damaging	1.00
R0255:Zmiz1	UTSW	14	25,654,919 (GRCm39)	splice site	probably benign
R1006:Zmiz1	UTSW	14	25,663,404 (GRCm39)	missense	unknown
R1160:Zmiz1	UTSW	14	25,654,936 (GRCm39)	missense	probably damaging	1.00
R1222:Zmiz1	UTSW	14	25,658,520 (GRCm39)	splice site	probably benign
R2846:Zmiz1	UTSW	14	25,646,099 (GRCm39)	missense	probably benign	0.03
R4126:Zmiz1	UTSW	14	25,657,354 (GRCm39)	missense	possibly damaging	0.94
R4373:Zmiz1	UTSW	14	25,636,434 (GRCm39)	missense	probably damaging	0.97
R4374:Zmiz1	UTSW	14	25,636,434 (GRCm39)	missense	probably damaging	0.97
R4377:Zmiz1	UTSW	14	25,636,434 (GRCm39)	missense	probably damaging	0.97
R4533:Zmiz1	UTSW	14	25,646,084 (GRCm39)	missense	probably damaging	1.00
R4726:Zmiz1	UTSW	14	25,644,098 (GRCm39)	critical splice donor site	probably null
R5295:Zmiz1	UTSW	14	25,656,771 (GRCm39)	missense	probably damaging	1.00
R5385:Zmiz1	UTSW	14	25,650,237 (GRCm39)	missense	probably damaging	1.00
R5579:Zmiz1	UTSW	14	25,645,280 (GRCm39)	missense	probably damaging	0.96
R5761:Zmiz1	UTSW	14	25,651,730 (GRCm39)	missense	probably damaging	1.00
R5761:Zmiz1	UTSW	14	25,651,728 (GRCm39)	missense	possibly damaging	0.86
R5844:Zmiz1	UTSW	14	25,657,354 (GRCm39)	missense	probably damaging	1.00
R5875:Zmiz1	UTSW	14	25,636,390 (GRCm39)	missense	possibly damaging	0.55
R6051:Zmiz1	UTSW	14	25,572,494 (GRCm39)	start codon destroyed	probably null	0.53
R6919:Zmiz1	UTSW	14	25,644,062 (GRCm39)	missense	probably damaging	1.00
R7083:Zmiz1	UTSW	14	25,652,372 (GRCm39)	missense	probably damaging	1.00
R7216:Zmiz1	UTSW	14	25,576,633 (GRCm39)	missense	probably damaging	0.99
R7216:Zmiz1	UTSW	14	25,576,631 (GRCm39)	missense	probably damaging	0.99
R7233:Zmiz1	UTSW	14	25,650,092 (GRCm39)	missense	possibly damaging	0.61
R8674:Zmiz1	UTSW	14	25,647,410 (GRCm39)	missense	probably benign	0.00
R8772:Zmiz1	UTSW	14	25,646,118 (GRCm39)	missense	probably damaging	1.00
R9610:Zmiz1	UTSW	14	25,651,022 (GRCm39)	missense	probably benign	0.00
R9611:Zmiz1	UTSW	14	25,651,022 (GRCm39)	missense	probably benign	0.00
R9632:Zmiz1	UTSW	14	25,663,411 (GRCm39)	missense	unknown
R9740:Zmiz1	UTSW	14	25,657,250 (GRCm39)	missense	possibly damaging	0.79
X0023:Zmiz1	UTSW	14	25,650,108 (GRCm39)	missense	probably damaging	0.96
Z1176:Zmiz1	UTSW	14	25,646,168 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAAGCTGGAGAATCCCACC -3'
(R):5'- CCATATCAGACCTGGCAGTG -3'

Sequencing Primer
(F):5'- GGAGAATCCCACCAGCCTTCTG -3'
(R):5'- AGACCTGGCAGTGGGGTTG -3'

Posted On

2019-06-26