Mutagenetix > Incidental Mutations

Incidental Mutation 'R5646:Zmiz2'

441171

Institutional Source

Beutler Lab

Gene Symbol

Zmiz2

Ensembl Gene

ENSMUSG00000041164

Gene Name

zinc finger, MIZ-type containing 2

Synonyms

Zimp7, D11Bwg0280e, 2410117E06Rik

MMRRC Submission

043294-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5646 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6389074-6406158 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6402837 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 654 (D654E)

Ref Sequence

ENSEMBL: ENSMUSP00000105410 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000012612
AA Change: D654E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000012612
Gene: ENSMUSG00000041164
AA Change: D654E

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: D622E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099978
Gene: ENSMUSG00000041164
AA Change: D622E

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: D628E

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

SMART Domains

Protein: ENSMUSP00000105408
Gene: ENSMUSG00000041164
AA Change: D628E

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: D654E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105409
Gene: ENSMUSG00000041164
AA Change: D654E

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: D654E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105410
Gene: ENSMUSG00000041164
AA Change: D654E

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

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	G	10: 82,283,776	S4467P	probably damaging	Het
Add1	C	A	5: 34,630,680	A691D	probably benign	Het
Agap3	C	A	5: 24,483,397	D394E	probably benign	Het
Arhgef11	T	C	3: 87,684,486	V59A	possibly damaging	Het
Atp2a1	A	G	7: 126,453,105	V402A	probably benign	Het
Bbs9	T	C	9: 22,578,715	F261L	probably benign	Het
Bsn	A	T	9: 108,110,432		probably benign	Het
Camk1	A	G	6: 113,339,340	V81A	probably damaging	Het
Cass4	T	G	2: 172,416,245	C54W	probably damaging	Het
Ccdc39	A	T	3: 33,825,550	F456L	probably damaging	Het
Cdc42bpa	A	G	1: 180,106,094	E766G	probably damaging	Het
Cdcp2	T	C	4: 107,105,142	C171R	probably damaging	Het
Cdh9	G	A	15: 16,823,285	E118K	probably damaging	Het
Col4a2	G	A	8: 11,441,281	G1227R	probably damaging	Het
Cyp2d9	A	G	15: 82,452,464	T5A	probably benign	Het
Dlg5	T	A	14: 24,158,699	D813V	probably damaging	Het
Dmtf1	G	A	5: 9,124,515	S405F	possibly damaging	Het
Drd2	A	G	9: 49,404,912	K324R	probably benign	Het
Ergic1	T	C	17: 26,614,358	S29P	probably damaging	Het
Fmnl1	A	G	11: 103,196,512		probably benign	Het
Foxd2	C	T	4: 114,908,635	A63T	unknown	Het
Gfap	T	C	11: 102,891,456	I409M	probably benign	Het
Gfpt1	A	G	6: 87,042,999	M1V	probably null	Het
H2-T23	C	G	17: 36,031,803	E148Q	possibly damaging	Het
Hip1	G	A	5: 135,428,741	R704W	probably damaging	Het
Kif19a	A	C	11: 114,779,654	D130A	probably damaging	Het
Lin7b	T	C	7: 45,369,193	D14G	probably damaging	Het
Meioc	T	A	11: 102,675,257	N510K	possibly damaging	Het
Mettl5	C	A	2: 69,881,319	G68*	probably null	Het
Mitf	A	T	6: 98,013,694	I184F	probably damaging	Het
Mmp9	T	A	2: 164,949,050	H119Q	probably benign	Het
Mycbp2	T	A	14: 103,169,910	H2768L	probably benign	Het
Myh2	A	T	11: 67,188,812	I1032F	probably benign	Het
Myo3b	T	C	2: 70,314,430	I1110T	probably damaging	Het
Nde1	T	C	16: 14,169,514	F8L	probably damaging	Het
Olfr1317	T	C	2: 112,142,683	V246A	possibly damaging	Het
Olfr202	C	T	16: 59,283,979	V173I	probably benign	Het
Olfr432	C	T	1: 174,051,287	Q305*	probably null	Het
Olfr447	A	G	6: 42,911,523		probably null	Het
Olfr550	A	C	7: 102,579,305	Y270S	possibly damaging	Het
Olfr753-ps1	T	C	17: 37,169,917	I244V	probably benign	Het
Olfr771	T	C	10: 129,160,837	D49G	possibly damaging	Het
Pcdhga8	A	G	18: 37,726,770	H293R	probably benign	Het
Pde7a	A	T	3: 19,233,773	L244Q	probably damaging	Het
Pex14	T	C	4: 148,961,453	D340G	probably benign	Het
Pfkfb4	A	T	9: 109,008,421	I195F	probably damaging	Het
Pik3c2a	C	A	7: 116,405,951	G361W	probably damaging	Het
Prkcg	T	A	7: 3,329,081	M517K	probably damaging	Het
Prob1	A	T	18: 35,654,114	F362L	probably benign	Het
Rims4	C	T	2: 163,864,017	W232*	probably null	Het
Robo2	T	C	16: 73,961,819	D688G	probably damaging	Het
Sec24c	C	A	14: 20,679,573	A73E	probably benign	Het
Slc15a3	A	G	19: 10,843,210	N64D	probably benign	Het
Smg1	A	T	7: 118,212,559	N65K	probably benign	Het
Sptb	G	T	12: 76,587,441	D2165E	probably benign	Het
Sptbn5	A	T	2: 120,048,811		noncoding transcript	Het
Syt12	A	T	19: 4,456,541	M192K	possibly damaging	Het
Tas2r107	A	G	6: 131,659,708	V126A	probably benign	Het
Thbs3	T	C	3: 89,219,098	L242P	probably damaging	Het
Timp2	A	T	11: 118,317,532		probably null	Het
Tmtc1	G	A	6: 148,246,831	A751V	probably damaging	Het
Tnni2	A	T	7: 142,443,913	D85V	probably damaging	Het
Ttc39b	G	A	4: 83,244,070	P319L	probably damaging	Het
Ttc6	A	T	12: 57,576,019	K68M	probably damaging	Het
Usp25	G	A	16: 77,050,472	R156Q	probably benign	Het
Vill	A	T	9: 119,071,162	D365V	probably damaging	Het
Vmn1r65	T	A	7: 6,009,224	T4S	probably benign	Het
Vmn2r76	C	A	7: 86,226,053	C572F	probably damaging	Het
Vps26a	A	C	10: 62,468,298	N181K	probably damaging	Het
Xirp2	T	C	2: 67,510,790	L1125P	probably damaging	Het
Zbtb41	T	G	1: 139,423,763	S205A	probably benign	Het
Zfp438	T	C	18: 5,214,526	D144G	probably benign	Het
Zfp600	T	C	4: 146,195,100	S113P	probably damaging	Het
Zfp84	C	T	7: 29,776,393	T170M	probably benign	Het
Zswim4	A	T	8: 84,231,110		probably null	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
IGL03156:Zmiz2	APN	11	6399536	missense	probably damaging	1.00
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
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	unclassified	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
Z1088:Zmiz2	UTSW	11	6399603	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGGCTTTGCATAGCATCCC -3'
(R):5'- CACTCATCAGATGCGCAGTAG -3'

Sequencing Primer
(F):5'- TCACACTGGACTGCCATAGTG -3'
(R):5'- TAGACACTGGCCTGGAGTG -3'

Posted On

2016-11-08