Incidental Mutation 'R4533:Zmiz1'
ID 386366
Institutional Source Beutler Lab
Gene Symbol Zmiz1
Ensembl Gene ENSMUSG00000007817
Gene Name zinc finger, MIZ-type containing 1
Synonyms Rai17, Zimp10
MMRRC Submission 041773-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4533 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 25459609-25667167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25646084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 254 (Y254H)
Ref Sequence ENSEMBL: ENSMUSP00000124863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007961] [ENSMUST00000162645]
AlphaFold Q6P1E1
Predicted Effect probably damaging
Transcript: ENSMUST00000007961
AA Change: Y254H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000007961
Gene: ENSMUSG00000007817
AA Change: Y254H

DomainStartEndE-ValueType
low complexity region 123 142 N/A INTRINSIC
low complexity region 183 201 N/A INTRINSIC
low complexity region 239 268 N/A INTRINSIC
SCOP:d1gkub1 280 323 1e-3 SMART
low complexity region 431 446 N/A INTRINSIC
low complexity region 483 495 N/A INTRINSIC
low complexity region 498 505 N/A INTRINSIC
low complexity region 511 526 N/A INTRINSIC
Pfam:zf-Nse 731 786 3.5e-8 PFAM
Pfam:zf-MIZ 739 788 7.6e-26 PFAM
low complexity region 867 881 N/A INTRINSIC
low complexity region 982 997 N/A INTRINSIC
low complexity region 1039 1062 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159766
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160190
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160229
SMART Domains Protein: ENSMUSP00000124820
Gene: ENSMUSG00000007817

DomainStartEndE-ValueType
low complexity region 59 77 N/A INTRINSIC
low complexity region 115 144 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000162645
AA Change: Y254H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124863
Gene: ENSMUSG00000007817
AA Change: Y254H

DomainStartEndE-ValueType
low complexity region 123 142 N/A INTRINSIC
low complexity region 183 201 N/A INTRINSIC
low complexity region 239 268 N/A INTRINSIC
SCOP:d1gkub1 280 309 2e-3 SMART
low complexity region 437 452 N/A INTRINSIC
low complexity region 489 501 N/A INTRINSIC
low complexity region 504 511 N/A INTRINSIC
low complexity region 517 532 N/A INTRINSIC
Pfam:zf-MIZ 745 794 2.1e-26 PFAM
low complexity region 873 887 N/A INTRINSIC
low complexity region 988 1003 N/A INTRINSIC
low complexity region 1045 1068 N/A INTRINSIC
Meta Mutation Damage Score 0.1035 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis with failure of yolk sac vascular remodeling and abnormal embryonic vascular development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 A G 9: 90,062,761 (GRCm39) Y405C probably damaging Het
Ago3 A T 4: 126,239,356 (GRCm39) S832T probably damaging Het
Akap9 T A 5: 4,093,948 (GRCm39) F2157I probably damaging Het
Anapc5 T C 5: 122,929,798 (GRCm39) E561G possibly damaging Het
Art5 T C 7: 101,747,545 (GRCm39) H78R probably benign Het
Blvra T A 2: 126,932,304 (GRCm39) probably null Het
Ccdc171 A G 4: 83,575,579 (GRCm39) T488A possibly damaging Het
Crtc3 A T 7: 80,239,543 (GRCm39) M603K probably damaging Het
Csmd1 T C 8: 15,981,037 (GRCm39) probably null Het
Dbh C A 2: 27,067,343 (GRCm39) H409Q possibly damaging Het
Gm12185 T C 11: 48,798,747 (GRCm39) Y582C probably damaging Het
Gm12185 T C 11: 48,798,921 (GRCm39) N524S possibly damaging Het
Gm7356 A C 17: 14,221,672 (GRCm39) I119R probably damaging Het
Heatr1 T A 13: 12,449,392 (GRCm39) D1963E probably benign Het
Ighv1-37 A T 12: 114,860,147 (GRCm39) V21D probably damaging Het
Itga3 T G 11: 94,948,119 (GRCm39) Q602P probably benign Het
Kcmf1 G A 6: 72,826,574 (GRCm39) R152C probably damaging Het
Lin54 T C 5: 100,633,262 (GRCm39) I141V possibly damaging Het
Mast1 T A 8: 85,647,990 (GRCm39) H497L probably damaging Het
Mrpl44 T C 1: 79,753,971 (GRCm39) F41S possibly damaging Het
Myo18b T C 5: 112,840,891 (GRCm39) R2301G probably damaging Het
Nek1 A T 8: 61,460,247 (GRCm39) M58L possibly damaging Het
Or4k15c T C 14: 50,321,156 (GRCm39) probably null Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
P3h3 A G 6: 124,831,371 (GRCm39) V338A possibly damaging Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pcdha7 T C 18: 37,108,460 (GRCm39) V495A possibly damaging Het
Plcb3 T C 19: 6,933,640 (GRCm39) E895G probably benign Het
Plekha5 A G 6: 140,516,057 (GRCm39) E770G probably damaging Het
Ptchd3 C T 11: 121,727,257 (GRCm39) S377F probably damaging Het
Ptprj C T 2: 90,270,299 (GRCm39) D1266N probably damaging Het
Raly A T 2: 154,707,853 (GRCm39) E291V probably damaging Het
Rnf217 C A 10: 31,484,759 (GRCm39) C141F possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc12a3 A G 8: 95,083,714 (GRCm39) M914V probably null Het
Tbc1d9 A G 8: 83,997,547 (GRCm39) T1035A probably damaging Het
Tex14 C T 11: 87,427,655 (GRCm39) R36* probably null Het
Tiparp A G 3: 65,453,768 (GRCm39) D172G probably benign Het
Ttc3 T A 16: 94,267,736 (GRCm39) probably benign Het
Uap1 A T 1: 169,970,994 (GRCm39) I466N probably damaging Het
Ubr1 T C 2: 120,772,963 (GRCm39) T426A possibly damaging Het
Vmn1r77 T A 7: 11,775,756 (GRCm39) H177Q probably benign Het
Vmn2r72 T A 7: 85,401,134 (GRCm39) H95L probably benign Het
Vwc2l G A 1: 70,921,298 (GRCm39) C151Y probably damaging Het
Wdr12 T C 1: 60,117,354 (GRCm39) Y414C probably benign Het
Zfp609 A C 9: 65,610,890 (GRCm39) V691G probably benign Het
Other mutations in Zmiz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00553:Zmiz1 APN 14 25,572,494 (GRCm39) start codon destroyed probably null 0.53
IGL01582:Zmiz1 APN 14 25,658,654 (GRCm39) missense probably benign 0.00
IGL01601:Zmiz1 APN 14 25,582,068 (GRCm39) missense possibly damaging 0.68
IGL02008:Zmiz1 APN 14 25,657,303 (GRCm39) missense probably damaging 0.97
IGL02395:Zmiz1 APN 14 25,657,187 (GRCm39) missense probably damaging 1.00
IGL02836:Zmiz1 APN 14 25,657,166 (GRCm39) splice site probably benign
zapp UTSW 14 25,663,404 (GRCm39) missense unknown
R0144:Zmiz1 UTSW 14 25,655,671 (GRCm39) missense probably damaging 1.00
R0255:Zmiz1 UTSW 14 25,654,919 (GRCm39) splice site probably benign
R1006:Zmiz1 UTSW 14 25,663,404 (GRCm39) missense unknown
R1160:Zmiz1 UTSW 14 25,654,936 (GRCm39) missense probably damaging 1.00
R1222:Zmiz1 UTSW 14 25,658,520 (GRCm39) splice site probably benign
R2846:Zmiz1 UTSW 14 25,646,099 (GRCm39) missense probably benign 0.03
R4126:Zmiz1 UTSW 14 25,657,354 (GRCm39) missense possibly damaging 0.94
R4373:Zmiz1 UTSW 14 25,636,434 (GRCm39) missense probably damaging 0.97
R4374:Zmiz1 UTSW 14 25,636,434 (GRCm39) missense probably damaging 0.97
R4377:Zmiz1 UTSW 14 25,636,434 (GRCm39) missense probably damaging 0.97
R4726:Zmiz1 UTSW 14 25,644,098 (GRCm39) critical splice donor site probably null
R5295:Zmiz1 UTSW 14 25,656,771 (GRCm39) missense probably damaging 1.00
R5385:Zmiz1 UTSW 14 25,650,237 (GRCm39) missense probably damaging 1.00
R5579:Zmiz1 UTSW 14 25,645,280 (GRCm39) missense probably damaging 0.96
R5761:Zmiz1 UTSW 14 25,651,730 (GRCm39) missense probably damaging 1.00
R5761:Zmiz1 UTSW 14 25,651,728 (GRCm39) missense possibly damaging 0.86
R5844:Zmiz1 UTSW 14 25,657,354 (GRCm39) missense probably damaging 1.00
R5875:Zmiz1 UTSW 14 25,636,390 (GRCm39) missense possibly damaging 0.55
R6051:Zmiz1 UTSW 14 25,572,494 (GRCm39) start codon destroyed probably null 0.53
R6919:Zmiz1 UTSW 14 25,644,062 (GRCm39) missense probably damaging 1.00
R7083:Zmiz1 UTSW 14 25,652,372 (GRCm39) missense probably damaging 1.00
R7216:Zmiz1 UTSW 14 25,576,633 (GRCm39) missense probably damaging 0.99
R7216:Zmiz1 UTSW 14 25,576,631 (GRCm39) missense probably damaging 0.99
R7216:Zmiz1 UTSW 14 25,576,624 (GRCm39) frame shift probably null
R7233:Zmiz1 UTSW 14 25,650,092 (GRCm39) missense possibly damaging 0.61
R8674:Zmiz1 UTSW 14 25,647,410 (GRCm39) missense probably benign 0.00
R8772:Zmiz1 UTSW 14 25,646,118 (GRCm39) missense probably damaging 1.00
R9610:Zmiz1 UTSW 14 25,651,022 (GRCm39) missense probably benign 0.00
R9611:Zmiz1 UTSW 14 25,651,022 (GRCm39) missense probably benign 0.00
R9632:Zmiz1 UTSW 14 25,663,411 (GRCm39) missense unknown
R9740:Zmiz1 UTSW 14 25,657,250 (GRCm39) missense possibly damaging 0.79
X0023:Zmiz1 UTSW 14 25,650,108 (GRCm39) missense probably damaging 0.96
Z1176:Zmiz1 UTSW 14 25,646,168 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGAAATGTCCTAGCCCCAG -3'
(R):5'- CTGTGTCTCTTGCAAGGCTG -3'

Sequencing Primer
(F):5'- GGCCTTGTCATCACTAGTAGCAAG -3'
(R):5'- GCTGCCACTGTAGCTGTG -3'
Posted On 2016-05-19