Incidental Mutation 'IGL03301:Zmiz2'
ID416219
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zmiz2
Ensembl Gene ENSMUSG00000041164
Gene Namezinc finger, MIZ-type containing 2
SynonymsZimp7, D11Bwg0280e, 2410117E06Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03301
Quality Score
Status
Chromosome11
Chromosomal Location6389074-6406158 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 6401170 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 566 (T566M)
Ref Sequence ENSEMBL: ENSMUSP00000105408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012612] [ENSMUST00000102914] [ENSMUST00000109785] [ENSMUST00000109786] [ENSMUST00000109787]
Predicted Effect probably benign
Transcript: ENSMUST00000012612
AA Change: T592M

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000012612
Gene: ENSMUSG00000041164
AA Change: T592M

DomainStartEndE-ValueType
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: T560M

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099978
Gene: ENSMUSG00000041164
AA Change: T560M

DomainStartEndE-ValueType
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: T566M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105408
Gene: ENSMUSG00000041164
AA Change: T566M

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000109786
AA Change: T592M

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105409
Gene: ENSMUSG00000041164
AA Change: T592M

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000109787
AA Change: T592M

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105410
Gene: ENSMUSG00000041164
AA Change: T592M

DomainStartEndE-ValueType
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 89,707,404 E418G probably damaging Het
Arl14 T C 3: 69,222,943 F141S probably damaging Het
C1s1 A T 6: 124,541,324 probably benign Het
Cilp T C 9: 65,280,217 V1198A probably benign Het
Cnbd1 A T 4: 19,055,039 I129K probably benign Het
Ctdp1 G A 18: 80,449,634 Q549* probably null Het
Cyp2ab1 T A 16: 20,313,799 I250F possibly damaging Het
Dmd G A X: 83,908,514 R1765Q probably damaging Het
Dnah1 C T 14: 31,292,692 G1739R probably damaging Het
Eml6 T C 11: 29,764,083 K1350E probably benign Het
Ephx4 C A 5: 107,426,864 T256K probably benign Het
Fnd3c2 G T X: 106,252,263 Q49K probably benign Het
Heatr1 G T 13: 12,434,205 G1889W probably damaging Het
Igkv19-93 A T 6: 68,736,481 W55R probably damaging Het
Jak1 T C 4: 101,175,173 Y412C probably damaging Het
Moxd1 A T 10: 24,279,484 N261I probably damaging Het
Mrgpra1 T C 7: 47,335,416 N172D probably benign Het
Papolg T C 11: 23,874,503 N293S probably benign Het
Piezo2 A G 18: 63,027,704 S2294P probably damaging Het
Ppp3cb A T 14: 20,523,984 V262D probably damaging Het
Rhox7a A G X: 37,840,011 T235A probably benign Het
Saal1 A G 7: 46,702,520 probably benign Het
Scrn1 G A 6: 54,548,337 R16* probably null Het
Slc22a2 A G 17: 12,606,039 R263G probably damaging Het
Speer3 T A 5: 13,795,433 L160H probably damaging Het
Tmcc2 T C 1: 132,360,819 M377V possibly damaging Het
Tsen2 T G 6: 115,568,771 Y341D probably damaging Het
Vmn2r13 A T 5: 109,158,089 V541D probably damaging Het
Vmn2r15 A G 5: 109,297,355 probably null Het
Zfp711 T C X: 112,633,401 Y710H probably damaging Het
Other mutations in Zmiz2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 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
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 On2016-08-02