Incidental Mutation 'IGL00923:Zmiz2'
ID 28523
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
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00923
Quality Score
Status
Chromosome 11
Chromosomal Location 6339074-6356158 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6352845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 631 (M631K)
Ref Sequence ENSEMBL: ENSMUSP00000105408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012612] [ENSMUST00000102914] [ENSMUST00000109785] [ENSMUST00000109786] [ENSMUST00000109787]
AlphaFold Q8CIE2
Predicted Effect possibly damaging
Transcript: ENSMUST00000012612
AA Change: M657K

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000012612
Gene: ENSMUSG00000041164
AA Change: M657K

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: M625K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099978
Gene: ENSMUSG00000041164
AA Change: M625K

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: M631K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105408
Gene: ENSMUSG00000041164
AA Change: M631K

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 possibly damaging
Transcript: ENSMUST00000109786
AA Change: M657K

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000105409
Gene: ENSMUSG00000041164
AA Change: M657K

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 possibly damaging
Transcript: ENSMUST00000109787
AA Change: M657K

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000105410
Gene: ENSMUSG00000041164
AA Change: M657K

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T A 5: 89,832,235 (GRCm39) E956V probably benign Het
Adcy2 C T 13: 68,768,915 (GRCm39) G1071E probably damaging Het
Adgrv1 A T 13: 81,530,410 (GRCm39) V5888D probably damaging Het
Arhgef12 G A 9: 42,931,920 (GRCm39) T189I probably damaging Het
Cp T C 3: 20,024,165 (GRCm39) L335P probably damaging Het
Cwf19l1 A G 19: 44,119,849 (GRCm39) probably null Het
Dgki A T 6: 36,839,391 (GRCm39) N933K probably benign Het
Dixdc1 G T 9: 50,579,033 (GRCm39) A660D probably damaging Het
Dnajc9 T C 14: 20,435,515 (GRCm39) D232G probably benign Het
Dock9 A G 14: 121,844,504 (GRCm39) probably benign Het
Elp6 A T 9: 110,139,193 (GRCm39) T29S probably damaging Het
Fam8a1 T C 13: 46,827,147 (GRCm39) probably null Het
Fbn2 A T 18: 58,145,397 (GRCm39) D2746E probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Mtss1 G T 15: 58,815,348 (GRCm39) N737K possibly damaging Het
Nbas T C 12: 13,386,285 (GRCm39) V737A possibly damaging Het
Ndrg1 A T 15: 66,814,959 (GRCm39) N164K probably damaging Het
Nrtn A G 17: 57,059,447 (GRCm39) S11P probably damaging Het
Or4c11c T G 2: 88,661,456 (GRCm39) probably null Het
Or4f62 T A 2: 111,987,122 (GRCm39) D275E possibly damaging Het
Rab10 T A 12: 3,303,334 (GRCm39) M118L probably benign Het
Slc11a2 A G 15: 100,295,669 (GRCm39) V175A probably benign Het
Tex21 T A 12: 76,291,885 (GRCm39) D12V probably damaging Het
Ttn T A 2: 76,731,272 (GRCm39) probably benign Het
Vmn1r215 G A 13: 23,260,419 (GRCm39) G153D probably damaging Het
Zc3h4 A G 7: 16,163,617 (GRCm39) D612G unknown Het
Zfp354c A T 11: 50,706,440 (GRCm39) Y212N probably damaging Het
Other mutations in Zmiz2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5646:Zmiz2 UTSW 11 6,352,837 (GRCm39) missense probably damaging 1.00
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
Posted On 2013-04-17