Mutagenetix > Incidental Mutation

Incidental Mutation 'R4726:Zmiz1'

358485

Institutional Source

Beutler Lab

Gene Symbol

Zmiz1

Ensembl Gene

ENSMUSG00000007817

Gene Name

zinc finger, MIZ-type containing 1

Synonyms

Rai17, Zimp10

MMRRC Submission

041989-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4726 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25459609-25667167 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 25644098 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

noncoding transcript
Transcript: ENSMUST00000159766

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160190

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160229

SMART Domains

Protein: ENSMUSP00000124820
Gene: ENSMUSG00000007817

Domain	Start	End	E-Value	Type
low complexity region	59	77	N/A	INTRINSIC
low complexity region	115	144	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

Meta Mutation Damage Score

0.9503

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (74/75)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930583I09Rik	T	C	17: 65,141,448 (GRCm39)	S52G	probably null	Het
Abcc2	T	C	19: 43,820,553 (GRCm39)	S1351P	probably benign	Het
Acp2	T	A	2: 91,034,622 (GRCm39)	L87Q	probably damaging	Het
Adgrl3	C	A	5: 81,794,425 (GRCm39)	T550K	possibly damaging	Het
Amotl2	A	G	9: 102,601,018 (GRCm39)	R329G	probably benign	Het
Angel1	T	C	12: 86,768,649 (GRCm39)	N278S	probably damaging	Het
Ankrd12	A	C	17: 66,277,319 (GRCm39)	M1985R	probably damaging	Het
Apob	T	A	12: 8,040,267 (GRCm39)	F535I	probably damaging	Het
Art3	A	G	5: 92,559,002 (GRCm39)	K313R	probably benign	Het
Asxl2	C	T	12: 3,551,872 (GRCm39)	H1205Y	possibly damaging	Het
Bsph1	A	T	7: 13,206,920 (GRCm39)	M99L	probably benign	Het
Ccdc153	T	C	9: 44,154,963 (GRCm39)		probably null	Het
Cdh16	A	T	8: 105,342,664 (GRCm39)	M28K	probably damaging	Het
Cdhr2	T	C	13: 54,866,352 (GRCm39)	F353L	probably damaging	Het
Chrna2	G	T	14: 66,386,345 (GRCm39)	V164L	possibly damaging	Het
Cip2a	A	G	16: 48,834,433 (GRCm39)	T672A	probably benign	Het
Ckmt1	T	C	2: 121,191,712 (GRCm39)		probably null	Het
Col25a1	A	T	3: 130,313,430 (GRCm39)	E280V	possibly damaging	Het
Dnajc12	A	G	10: 63,233,087 (GRCm39)	D76G	probably damaging	Het
Drd3	G	T	16: 43,643,164 (GRCm39)	E467*	probably null	Het
Ecpas	A	G	4: 58,844,191 (GRCm39)	V525A	probably damaging	Het
Ehbp1l1	C	A	19: 5,769,204 (GRCm39)	A700S	possibly damaging	Het
Gab1	T	C	8: 81,515,682 (GRCm39)	D212G	possibly damaging	Het
Gm26996	A	G	6: 130,557,134 (GRCm39)		noncoding transcript	Het
Gm28113	A	G	15: 75,198,577 (GRCm39)		noncoding transcript	Het
Has3	T	C	8: 107,604,718 (GRCm39)	F308S	probably damaging	Het
Ifit3b	T	A	19: 34,588,860 (GRCm39)	I12N	probably benign	Het
Ifna4	C	A	4: 88,760,519 (GRCm39)	T141K	probably benign	Het
Ints3	A	G	3: 90,301,084 (GRCm39)	S840P	probably damaging	Het
Itih4	T	C	14: 30,611,792 (GRCm39)	V132A	probably damaging	Het
Itprid2	T	A	2: 79,493,101 (GRCm39)	I1216N	probably damaging	Het
Kcnj10	A	G	1: 172,196,639 (GRCm39)	Y51C	probably damaging	Het
Klk1b24	G	A	7: 43,839,820 (GRCm39)	V60I	probably damaging	Het
Klra14-ps	C	A	6: 130,134,626 (GRCm39)		noncoding transcript	Het
Krt6b	A	G	15: 101,586,520 (GRCm39)	I323T	probably damaging	Het
Lilra5	A	C	7: 4,240,957 (GRCm39)	Q17P	probably benign	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,024,045 (GRCm39)		probably benign	Het
Map3k4	T	C	17: 12,451,851 (GRCm39)	N1479S	possibly damaging	Het
Mbd3l2	A	T	9: 18,356,256 (GRCm39)	I194F	probably damaging	Het
Megf10	T	C	18: 57,420,864 (GRCm39)	I834T	probably benign	Het
Mterf4	G	A	1: 93,229,471 (GRCm39)	T251M	probably damaging	Het
Mtmr3	A	T	11: 4,457,634 (GRCm39)	D170E	probably damaging	Het
Myom3	C	T	4: 135,534,586 (GRCm39)		probably null	Het
Nemp1	G	A	10: 127,530,462 (GRCm39)	V305I	probably benign	Het
Nlrp1b	G	T	11: 71,072,232 (GRCm39)	T537K	probably benign	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Or5b3	T	A	19: 13,388,469 (GRCm39)	C179S	probably damaging	Het
Or6c206	A	G	10: 129,097,045 (GRCm39)	T72A	possibly damaging	Het
Or8k28	A	G	2: 86,286,580 (GRCm39)	F12L	possibly damaging	Het
Pias1	A	G	9: 62,827,771 (GRCm39)	V212A	probably damaging	Het
Plscr1	T	A	9: 92,145,221 (GRCm39)	V77D	probably damaging	Het
Plxna1	T	C	6: 89,299,798 (GRCm39)	N1657S	probably damaging	Het
Ptprf	A	G	4: 118,069,414 (GRCm39)	V1551A	possibly damaging	Het
Ptprn2	C	A	12: 117,211,393 (GRCm39)	Y857*	probably null	Het
Puf60	A	T	15: 75,944,183 (GRCm39)		probably null	Het
Rnf20	C	T	4: 49,654,579 (GRCm39)	R879*	probably null	Het
Robo1	G	A	16: 72,768,931 (GRCm39)	A499T	probably damaging	Het
Slc39a14	A	G	14: 70,551,048 (GRCm39)		probably null	Het
Smarcad1	A	T	6: 65,052,025 (GRCm39)	H6L	probably damaging	Het
Smg5	A	G	3: 88,243,758 (GRCm39)	S10G	possibly damaging	Het
Stk39	T	A	2: 68,093,647 (GRCm39)	D488V	probably damaging	Het
Stx19	A	G	16: 62,642,495 (GRCm39)	N104D	probably benign	Het
Tcstv1b	A	T	13: 120,635,173 (GRCm39)	S152C	possibly damaging	Het
Tmem222	T	C	4: 133,004,975 (GRCm39)	M21V	probably benign	Het
Trim43b	T	A	9: 88,971,538 (GRCm39)	N205I	possibly damaging	Het
Ubr4	C	A	4: 139,209,890 (GRCm39)	H5017N	possibly damaging	Het
Vmn2r93	A	G	17: 18,536,960 (GRCm39)	T548A	probably damaging	Het
Vps8	G	A	16: 21,267,154 (GRCm39)		probably null	Het
Wasl	A	G	6: 24,633,110 (GRCm39)	V176A	probably benign	Het
Wbp2nl	T	A	15: 82,190,255 (GRCm39)	V61E	probably damaging	Het
Zfp959	T	A	17: 56,205,260 (GRCm39)		probably null	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
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
R7216:Zmiz1	UTSW	14	25,576,624 (GRCm39)	frame shift	probably null
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'- AAGTGCTGTCATGAGCCTG -3'
(R):5'- TACCCTTTCCGGAGTGATGC -3'

Sequencing Primer
(F):5'- AGCTCACTGGGGCAAAGGTC -3'
(R):5'- CTGTCTGCAGCTGGATATGTCC -3'

Posted On

2015-11-11