Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03156:Zmiz2'

411265

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zmiz2

Ensembl Gene

ENSMUSG00000041164

Gene Name

zinc finger, MIZ-type containing 2

Synonyms

Zimp7, D11Bwg0280e, 2410117E06Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03156

Quality Score

Status

Chromosome

Chromosomal Location

6389074-6406158 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6399536 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 399 (F399L)

Ref Sequence

ENSEMBL: ENSMUSP00000105408 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012612] [ENSMUST00000102914] [ENSMUST00000109785] [ENSMUST00000109786] [ENSMUST00000109787]

Predicted Effect

probably damaging
Transcript: ENSMUST00000012612
AA Change: F425L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000012612
Gene: ENSMUSG00000041164
AA Change: F425L

Domain	Start	End	E-Value	Type
low complexity region	60	82	N/A	INTRINSIC
low complexity region	121	134	N/A	INTRINSIC
low complexity region	147	170	N/A	INTRINSIC
low complexity region	203	227	N/A	INTRINSIC
low complexity region	247	264	N/A	INTRINSIC
low complexity region	273	284	N/A	INTRINSIC
low complexity region	289	307	N/A	INTRINSIC
low complexity region	366	385	N/A	INTRINSIC
Pfam:zf-MIZ	596	645	1.7e-26	PFAM
low complexity region	721	736	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102914
AA Change: F393L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099978
Gene: ENSMUSG00000041164
AA Change: F393L

Domain	Start	End	E-Value	Type
low complexity region	89	102	N/A	INTRINSIC
low complexity region	115	138	N/A	INTRINSIC
low complexity region	171	195	N/A	INTRINSIC
low complexity region	215	232	N/A	INTRINSIC
low complexity region	241	252	N/A	INTRINSIC
low complexity region	257	275	N/A	INTRINSIC
low complexity region	334	353	N/A	INTRINSIC
Pfam:zf-Nse	556	611	3.8e-8	PFAM
Pfam:zf-MIZ	564	613	5.4e-26	PFAM
low complexity region	689	704	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109785
AA Change: F399L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105408
Gene: ENSMUSG00000041164
AA Change: F399L

Domain	Start	End	E-Value	Type
low complexity region	60	82	N/A	INTRINSIC
low complexity region	121	134	N/A	INTRINSIC
low complexity region	147	170	N/A	INTRINSIC
low complexity region	203	227	N/A	INTRINSIC
low complexity region	247	264	N/A	INTRINSIC
low complexity region	273	284	N/A	INTRINSIC
low complexity region	289	307	N/A	INTRINSIC
low complexity region	340	359	N/A	INTRINSIC
Pfam:zf-Nse	562	617	3.8e-8	PFAM
Pfam:zf-MIZ	570	619	5.4e-26	PFAM
low complexity region	695	710	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109786
AA Change: F425L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105409
Gene: ENSMUSG00000041164
AA Change: F425L

Domain	Start	End	E-Value	Type
low complexity region	60	82	N/A	INTRINSIC
low complexity region	121	134	N/A	INTRINSIC
low complexity region	147	170	N/A	INTRINSIC
low complexity region	203	227	N/A	INTRINSIC
low complexity region	247	264	N/A	INTRINSIC
low complexity region	273	284	N/A	INTRINSIC
low complexity region	289	307	N/A	INTRINSIC
low complexity region	366	385	N/A	INTRINSIC
Pfam:zf-Nse	588	643	4e-8	PFAM
Pfam:zf-MIZ	596	645	5.6e-26	PFAM
low complexity region	721	736	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109787
AA Change: F425L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105410
Gene: ENSMUSG00000041164
AA Change: F425L

Domain	Start	End	E-Value	Type
low complexity region	60	82	N/A	INTRINSIC
low complexity region	121	134	N/A	INTRINSIC
low complexity region	147	170	N/A	INTRINSIC
low complexity region	203	227	N/A	INTRINSIC
low complexity region	247	264	N/A	INTRINSIC
low complexity region	273	284	N/A	INTRINSIC
low complexity region	289	307	N/A	INTRINSIC
low complexity region	366	385	N/A	INTRINSIC
Pfam:zf-Nse	588	643	4e-8	PFAM
Pfam:zf-MIZ	596	645	5.6e-26	PFAM
low complexity region	721	736	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124588

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184154

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ZMIZ2 and ZMIZ1 (MIM 607159) are members of a PIAS (see MIM 603566)-like family of proteins that interact with nuclear hormone receptors. ZMIZ2 interacts with androgen receptor (AR; MIM 313700) and enhances AR-mediated transcription (Huang et al., 2005 [PubMed 16051670]).[supplied by OMIM, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	T	19: 11,105,750	I102K	possibly damaging	Het
4930430A15Rik	T	C	2: 111,200,412	D12G	possibly damaging	Het
Abca16	T	C	7: 120,423,851	I70T	possibly damaging	Het
Acot11	A	G	4: 106,754,136	Y365H	probably damaging	Het
Bdp1	A	G	13: 100,061,036	V947A	probably benign	Het
Ccdc159	G	T	9: 21,929,475	V113L	probably benign	Het
Cep350	T	C	1: 155,858,042	D3035G	probably damaging	Het
Clca1	T	A	3: 145,013,911	I433F	probably damaging	Het
Cntn5	T	C	9: 9,673,877	Y740C	probably damaging	Het
Dennd5a	C	A	7: 109,919,255		probably benign	Het
Des	G	A	1: 75,362,996	E333K	probably damaging	Het
Dnah7a	T	C	1: 53,605,824	R1018G	probably damaging	Het
Eif2b2	G	T	12: 85,219,721	A54S	probably damaging	Het
Gm7276	C	T	18: 77,185,603		probably benign	Het
Hsbp1l1	A	G	18: 80,235,519		probably benign	Het
Iars	G	A	13: 49,703,179	G303S	possibly damaging	Het
Il18r1	A	G	1: 40,498,368	E431G	possibly damaging	Het
Lrrc14b	A	G	13: 74,363,904	V19A	probably benign	Het
Map1lc3a	T	A	2: 155,277,009	I31N	probably damaging	Het
Obscn	T	C	11: 59,054,896	Y4163C	probably damaging	Het
Olfr478	T	A	7: 108,032,351		probably benign	Het
Pcsk1	A	G	13: 75,131,951	T632A	probably benign	Het
Ppp1r15a	A	G	7: 45,525,171	L71P	possibly damaging	Het
Ptgs2	T	G	1: 150,105,477	F504V	probably damaging	Het
Rimbp2	T	G	5: 128,771,757	R908S	probably damaging	Het
Rnh1	T	C	7: 141,163,183	N268S	probably damaging	Het
Sap30l	T	C	11: 57,806,168		probably null	Het
Scara3	C	T	14: 65,931,154	R338H	probably damaging	Het
Serpina12	T	C	12: 104,037,899	Y158C	probably damaging	Het
Tmem237	A	T	1: 59,109,127	D148E	probably damaging	Het
Trmt13	T	C	3: 116,585,802	D232G	probably benign	Het
Zan	T	A	5: 137,463,939	T993S	unknown	Het
Zfp236	G	A	18: 82,680,702	L85F	probably damaging	Het
Zfp352	G	A	4: 90,224,087	D155N	possibly damaging	Het
Zfp867	T	C	11: 59,465,008		probably benign	Het

Other mutations in Zmiz2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00923:Zmiz2	APN	11	6402845	missense	probably damaging	0.98
IGL01345:Zmiz2	APN	11	6405015	missense	possibly damaging	0.96
IGL01382:Zmiz2	APN	11	6403781	splice site	probably null
IGL02942:Zmiz2	APN	11	6399500	splice site	probably benign
IGL03301:Zmiz2	APN	11	6401170	missense	probably damaging	1.00
P0037:Zmiz2	UTSW	11	6403885	missense	probably damaging	1.00
R0938:Zmiz2	UTSW	11	6397185	missense	probably benign
R1666:Zmiz2	UTSW	11	6396836	missense	probably benign	0.00
R1692:Zmiz2	UTSW	11	6400795	missense	probably damaging	1.00
R4877:Zmiz2	UTSW	11	6403251	missense	probably damaging	1.00
R5375:Zmiz2	UTSW	11	6397519	nonsense	probably null
R5646:Zmiz2	UTSW	11	6402837	missense	probably damaging	1.00
R5783:Zmiz2	UTSW	11	6405081	missense	probably damaging	1.00
R5875:Zmiz2	UTSW	11	6405072	missense	probably damaging	1.00
R6276:Zmiz2	UTSW	11	6395604	splice site	probably null
R6962:Zmiz2	UTSW	11	6402455	missense	probably damaging	1.00
R6974:Zmiz2	UTSW	11	6397566	nonsense	probably null
R6983:Zmiz2	UTSW	11	6402413	missense	probably damaging	1.00
R7271:Zmiz2	UTSW	11	6399593	missense	probably damaging	1.00
R8511:Zmiz2	UTSW	11	6403190	missense	probably damaging	0.99
Z1088:Zmiz2	UTSW	11	6399603	missense	probably damaging	1.00
Z1176:Zmiz2	UTSW	11	6403871	missense	possibly damaging	0.68
Z1177:Zmiz2	UTSW	11	6397580	missense	possibly damaging	0.50
Z1177:Zmiz2	UTSW	11	6401230	missense	probably damaging	0.96

Posted On

2016-08-02