Mutagenetix > Incidental Mutation

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5646 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6339074-6356158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6352837 bp (GRCm39)

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]

AlphaFold

Q8CIE2

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
Add1	C	A	5: 34,788,024 (GRCm39)	A691D	probably benign	Het
Agap3	C	A	5: 24,688,395 (GRCm39)	D394E	probably benign	Het
Arhgef11	T	C	3: 87,591,793 (GRCm39)	V59A	possibly damaging	Het
Atp2a1	A	G	7: 126,052,277 (GRCm39)	V402A	probably benign	Het
Bbs9	T	C	9: 22,490,011 (GRCm39)	F261L	probably benign	Het
Bsn	A	T	9: 107,987,631 (GRCm39)		probably benign	Het
Camk1	A	G	6: 113,316,301 (GRCm39)	V81A	probably damaging	Het
Cass4	T	G	2: 172,258,165 (GRCm39)	C54W	probably damaging	Het
Ccdc39	A	T	3: 33,879,699 (GRCm39)	F456L	probably damaging	Het
Cdc42bpa	A	G	1: 179,933,659 (GRCm39)	E766G	probably damaging	Het
Cdcp2	T	C	4: 106,962,339 (GRCm39)	C171R	probably damaging	Het
Cdh9	G	A	15: 16,823,371 (GRCm39)	E118K	probably damaging	Het
Col4a2	G	A	8: 11,491,281 (GRCm39)	G1227R	probably damaging	Het
Cyp2d9	A	G	15: 82,336,665 (GRCm39)	T5A	probably benign	Het
Dlg5	T	A	14: 24,208,767 (GRCm39)	D813V	probably damaging	Het
Dmtf1	G	A	5: 9,174,515 (GRCm39)	S405F	possibly damaging	Het
Drd2	A	G	9: 49,316,212 (GRCm39)	K324R	probably benign	Het
Ergic1	T	C	17: 26,833,332 (GRCm39)	S29P	probably damaging	Het
Fmnl1	A	G	11: 103,087,338 (GRCm39)		probably benign	Het
Foxd2	C	T	4: 114,765,832 (GRCm39)	A63T	unknown	Het
Gfap	T	C	11: 102,782,282 (GRCm39)	I409M	probably benign	Het
Gfpt1	A	G	6: 87,019,981 (GRCm39)	M1V	probably null	Het
H2-T23	C	G	17: 36,342,695 (GRCm39)	E148Q	possibly damaging	Het
Hip1	G	A	5: 135,457,595 (GRCm39)	R704W	probably damaging	Het
Kif19a	A	C	11: 114,670,480 (GRCm39)	D130A	probably damaging	Het
Lin7b	T	C	7: 45,018,617 (GRCm39)	D14G	probably damaging	Het
Meioc	T	A	11: 102,566,083 (GRCm39)	N510K	possibly damaging	Het
Mettl5	C	A	2: 69,711,663 (GRCm39)	G68*	probably null	Het
Mitf	A	T	6: 97,990,655 (GRCm39)	I184F	probably damaging	Het
Mmp9	T	A	2: 164,790,970 (GRCm39)	H119Q	probably benign	Het
Mycbp2	T	A	14: 103,407,346 (GRCm39)	H2768L	probably benign	Het
Myh2	A	T	11: 67,079,638 (GRCm39)	I1032F	probably benign	Het
Myo3b	T	C	2: 70,144,774 (GRCm39)	I1110T	probably damaging	Het
Nde1	T	C	16: 13,987,378 (GRCm39)	F8L	probably damaging	Het
Or10aa3	C	T	1: 173,878,853 (GRCm39)	Q305*	probably null	Het
Or2a25	A	G	6: 42,888,457 (GRCm39)		probably null	Het
Or2h2b-ps1	T	C	17: 37,480,808 (GRCm39)	I244V	probably benign	Het
Or4f47	T	C	2: 111,973,028 (GRCm39)	V246A	possibly damaging	Het
Or51r1	A	C	7: 102,228,512 (GRCm39)	Y270S	possibly damaging	Het
Or5ac20	C	T	16: 59,104,342 (GRCm39)	V173I	probably benign	Het
Or6c202	T	C	10: 128,996,706 (GRCm39)	D49G	possibly damaging	Het
Pcdhga8	A	G	18: 37,859,823 (GRCm39)	H293R	probably benign	Het
Pde7a	A	T	3: 19,287,937 (GRCm39)	L244Q	probably damaging	Het
Pex14	T	C	4: 149,045,910 (GRCm39)	D340G	probably benign	Het
Pfkfb4	A	T	9: 108,837,489 (GRCm39)	I195F	probably damaging	Het
Pik3c2a	C	A	7: 116,005,186 (GRCm39)	G361W	probably damaging	Het
Prkcg	T	A	7: 3,377,597 (GRCm39)	M517K	probably damaging	Het
Prob1	A	T	18: 35,787,167 (GRCm39)	F362L	probably benign	Het
Rims4	C	T	2: 163,705,937 (GRCm39)	W232*	probably null	Het
Robo2	T	C	16: 73,758,707 (GRCm39)	D688G	probably damaging	Het
Sec24c	C	A	14: 20,729,641 (GRCm39)	A73E	probably benign	Het
Slc15a3	A	G	19: 10,820,574 (GRCm39)	N64D	probably benign	Het
Smg1	A	T	7: 117,811,782 (GRCm39)	N65K	probably benign	Het
Spata31h1	A	G	10: 82,119,610 (GRCm39)	S4467P	probably damaging	Het
Sptb	G	T	12: 76,634,215 (GRCm39)	D2165E	probably benign	Het
Sptbn5	A	T	2: 119,879,292 (GRCm39)		noncoding transcript	Het
Syt12	A	T	19: 4,506,569 (GRCm39)	M192K	possibly damaging	Het
Tas2r107	A	G	6: 131,636,671 (GRCm39)	V126A	probably benign	Het
Thbs3	T	C	3: 89,126,405 (GRCm39)	L242P	probably damaging	Het
Timp2	A	T	11: 118,208,358 (GRCm39)		probably null	Het
Tmtc1	G	A	6: 148,148,329 (GRCm39)	A751V	probably damaging	Het
Tnni2	A	T	7: 141,997,650 (GRCm39)	D85V	probably damaging	Het
Ttc39b	G	A	4: 83,162,307 (GRCm39)	P319L	probably damaging	Het
Ttc6	A	T	12: 57,622,805 (GRCm39)	K68M	probably damaging	Het
Usp25	G	A	16: 76,847,360 (GRCm39)	R156Q	probably benign	Het
Vill	A	T	9: 118,900,230 (GRCm39)	D365V	probably damaging	Het
Vmn1r65	T	A	7: 6,012,223 (GRCm39)	T4S	probably benign	Het
Vmn2r76	C	A	7: 85,875,261 (GRCm39)	C572F	probably damaging	Het
Vps26a	A	C	10: 62,304,077 (GRCm39)	N181K	probably damaging	Het
Xirp2	T	C	2: 67,341,134 (GRCm39)	L1125P	probably damaging	Het
Zbtb41	T	G	1: 139,351,501 (GRCm39)	S205A	probably benign	Het
Zfp438	T	C	18: 5,214,526 (GRCm39)	D144G	probably benign	Het
Zfp600	T	C	4: 146,131,670 (GRCm39)	S113P	probably damaging	Het
Zfp84	C	T	7: 29,475,818 (GRCm39)	T170M	probably benign	Het
Zswim4	A	T	8: 84,957,739 (GRCm39)		probably null	Het

Other mutations in Zmiz2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00923:Zmiz2	APN	11	6,352,845 (GRCm39)	missense	probably damaging	0.98
IGL01345:Zmiz2	APN	11	6,355,015 (GRCm39)	missense	possibly damaging	0.96
IGL01382:Zmiz2	APN	11	6,353,781 (GRCm39)	splice site	probably null
IGL02942:Zmiz2	APN	11	6,349,500 (GRCm39)	splice site	probably benign
IGL03156:Zmiz2	APN	11	6,349,536 (GRCm39)	missense	probably damaging	1.00
IGL03301:Zmiz2	APN	11	6,351,170 (GRCm39)	missense	probably damaging	1.00
P0037:Zmiz2	UTSW	11	6,353,885 (GRCm39)	missense	probably damaging	1.00
R0938:Zmiz2	UTSW	11	6,347,185 (GRCm39)	missense	probably benign
R1666:Zmiz2	UTSW	11	6,346,836 (GRCm39)	missense	probably benign	0.00
R1692:Zmiz2	UTSW	11	6,350,795 (GRCm39)	missense	probably damaging	1.00
R4877:Zmiz2	UTSW	11	6,353,251 (GRCm39)	missense	probably damaging	1.00
R5375:Zmiz2	UTSW	11	6,347,519 (GRCm39)	nonsense	probably null
R5783:Zmiz2	UTSW	11	6,355,081 (GRCm39)	missense	probably damaging	1.00
R5875:Zmiz2	UTSW	11	6,355,072 (GRCm39)	missense	probably damaging	1.00
R6276:Zmiz2	UTSW	11	6,345,604 (GRCm39)	splice site	probably null
R6962:Zmiz2	UTSW	11	6,352,455 (GRCm39)	missense	probably damaging	1.00
R6974:Zmiz2	UTSW	11	6,347,566 (GRCm39)	nonsense	probably null
R6983:Zmiz2	UTSW	11	6,352,413 (GRCm39)	missense	probably damaging	1.00
R7271:Zmiz2	UTSW	11	6,349,593 (GRCm39)	missense	probably damaging	1.00
R8511:Zmiz2	UTSW	11	6,353,190 (GRCm39)	missense	probably damaging	0.99
R8523:Zmiz2	UTSW	11	6,352,441 (GRCm39)	missense	probably damaging	1.00
R8720:Zmiz2	UTSW	11	6,349,904 (GRCm39)	missense	possibly damaging	0.86
R8905:Zmiz2	UTSW	11	6,346,840 (GRCm39)	missense	probably damaging	0.98
R9110:Zmiz2	UTSW	11	6,348,271 (GRCm39)	missense	probably benign	0.44
R9210:Zmiz2	UTSW	11	6,346,277 (GRCm39)	missense	possibly damaging	0.68
R9659:Zmiz2	UTSW	11	6,346,814 (GRCm39)	missense	probably benign	0.01
Z1088:Zmiz2	UTSW	11	6,349,603 (GRCm39)	missense	probably damaging	1.00
Z1176:Zmiz2	UTSW	11	6,353,871 (GRCm39)	missense	possibly damaging	0.68
Z1177:Zmiz2	UTSW	11	6,351,230 (GRCm39)	missense	probably damaging	0.96
Z1177:Zmiz2	UTSW	11	6,347,580 (GRCm39)	missense	possibly damaging	0.50

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