Incidental Mutation 'R6051:Zmiz1'
ID 484112
Institutional Source Beutler Lab
Gene Symbol Zmiz1
Ensembl Gene ENSMUSG00000007817
Gene Name zinc finger, MIZ-type containing 1
Synonyms Rai17, Zimp10
MMRRC Submission 044219-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6051 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 25459609-25667167 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 25572494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000124863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007961] [ENSMUST00000162645]
AlphaFold Q6P1E1
Predicted Effect probably null
Transcript: ENSMUST00000007961
AA Change: M1K

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000007961
Gene: ENSMUSG00000007817
AA Change: M1K

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: ENSMUST00000160680
Predicted Effect probably null
Transcript: ENSMUST00000162645
AA Change: M1K

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124863
Gene: ENSMUSG00000007817
AA Change: M1K

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,231,304 (GRCm39) A1021S possibly damaging Het
Abl2 A G 1: 156,469,655 (GRCm39) D869G probably damaging Het
Adamts9 G A 6: 92,836,907 (GRCm39) A615V possibly damaging Het
Adamts9 A G 6: 92,867,099 (GRCm39) Y96H probably damaging Het
Arhgef37 A G 18: 61,640,345 (GRCm39) I238T probably damaging Het
Atr T A 9: 95,790,422 (GRCm39) H1587Q possibly damaging Het
BB014433 T C 8: 15,092,179 (GRCm39) T225A possibly damaging Het
Bcas2 T C 3: 103,081,657 (GRCm39) Y87H possibly damaging Het
Brca1 C T 11: 101,415,072 (GRCm39) E160K probably damaging Het
Cd2ap T C 17: 43,107,219 (GRCm39) *638W probably null Het
Chd2 A T 7: 73,085,590 (GRCm39) D1681E probably benign Het
Cit C T 5: 115,984,464 (GRCm39) P12L probably benign Het
Cracdl G T 1: 37,663,306 (GRCm39) P864Q probably damaging Het
Crisp1 T C 17: 40,616,017 (GRCm39) Y120C possibly damaging Het
Cyp2c65 A G 19: 39,049,610 (GRCm39) D46G probably benign Het
Cyp2d34 A T 15: 82,500,971 (GRCm39) V387D probably damaging Het
E130311K13Rik T C 3: 63,823,062 (GRCm39) H194R probably benign Het
Egfr C A 11: 16,833,607 (GRCm39) T625N possibly damaging Het
Fat3 A G 9: 16,286,751 (GRCm39) V924A possibly damaging Het
Fgd6 T C 10: 93,973,427 (GRCm39) probably null Het
Galnt6 A T 15: 100,592,549 (GRCm39) C553S probably damaging Het
Gm5617 T C 9: 48,407,187 (GRCm39) L107P possibly damaging Het
Hectd1 G T 12: 51,800,887 (GRCm39) T2035N probably benign Het
Hp1bp3 A G 4: 137,961,615 (GRCm39) T154A possibly damaging Het
Il10rb A G 16: 91,218,752 (GRCm39) T262A probably benign Het
Kansl1l A T 1: 66,765,885 (GRCm39) N704K probably null Het
Kbtbd12 T C 6: 88,594,930 (GRCm39) D300G possibly damaging Het
Lama4 G A 10: 38,943,898 (GRCm39) A734T probably benign Het
Mllt6 G T 11: 97,571,569 (GRCm39) G1069* probably null Het
Mns1 T C 9: 72,356,735 (GRCm39) L302P probably damaging Het
Muc5ac T A 7: 141,365,594 (GRCm39) C2039S possibly damaging Het
Myof A G 19: 38,012,809 (GRCm39) L42P probably damaging Het
Ncoa3 T C 2: 165,900,685 (GRCm39) L868S probably damaging Het
Ndc80 C T 17: 71,824,573 (GRCm39) G212E probably benign Het
Ntn4 A G 10: 93,581,657 (GRCm39) H610R probably benign Het
Nufip2 T A 11: 77,582,742 (GRCm39) Y219N probably damaging Het
Or51m1 T C 7: 103,578,084 (GRCm39) F18S probably damaging Het
Pbxip1 T C 3: 89,350,477 (GRCm39) S41P probably benign Het
Phactr2 A T 10: 13,137,555 (GRCm39) C196S probably null Het
Ppp3ca T A 3: 136,581,883 (GRCm39) Y140N probably damaging Het
Ptprb C A 10: 116,176,995 (GRCm39) Y1260* probably null Het
Rap1a C T 3: 105,657,613 (GRCm39) R2H possibly damaging Het
Rbbp8 G A 18: 11,871,664 (GRCm39) V794I probably benign Het
Rbks T C 5: 31,809,163 (GRCm39) N200S probably damaging Het
Relch G T 1: 105,648,997 (GRCm39) G712V probably damaging Het
Rnf186 G T 4: 138,695,277 (GRCm39) K272N probably damaging Het
Rtl1 G A 12: 109,559,458 (GRCm39) P794S probably damaging Het
Tbc1d30 T A 10: 121,132,750 (GRCm39) I205F probably damaging Het
Tkt C T 14: 30,290,153 (GRCm39) P261S probably benign Het
Trp53 G A 11: 69,480,434 (GRCm39) R267H possibly damaging Het
Ttc14 T C 3: 33,863,073 (GRCm39) probably benign Het
Ttn A G 2: 76,737,805 (GRCm39) S4245P probably benign Het
Vmn1r75 A T 7: 11,614,978 (GRCm39) I237F probably damaging Het
Vmn2r57 T A 7: 41,097,896 (GRCm39) H57L probably benign Het
Wdr62 T C 7: 29,960,809 (GRCm39) N40S possibly damaging Het
Xcr1 A T 9: 123,685,181 (GRCm39) F194I 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
R4533:Zmiz1 UTSW 14 25,646,084 (GRCm39) missense probably damaging 1.00
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
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'- ATAAAGCTGTGCACCCAGGG -3'
(R):5'- TGGAAGCAAAACTCCCAGAG -3'

Sequencing Primer
(F):5'- CACCCAGGGCCCCTCTG -3'
(R):5'- CCCAAAGTCAAACAGCTGGATGG -3'
Posted On 2017-07-14