Incidental Mutation 'R9611:Zmiz1'
ID 724242
Institutional Source Beutler Lab
Gene Symbol Zmiz1
Ensembl Gene ENSMUSG00000007817
Gene Name zinc finger, MIZ-type containing 1
Synonyms Rai17, Zimp10
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9611 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 25459609-25667167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25651022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 502 (V502A)
Ref Sequence ENSEMBL: ENSMUSP00000124863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007961] [ENSMUST00000162645]
AlphaFold Q6P1E1
Predicted Effect probably benign
Transcript: ENSMUST00000007961
AA Change: V496A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000007961
Gene: ENSMUSG00000007817
AA Change: V496A

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 probably benign
Transcript: ENSMUST00000162645
AA Change: V502A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000124863
Gene: ENSMUSG00000007817
AA Change: V502A

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 A T 18: 59,023,399 (GRCm39) T265S probably benign Het
Ahnak T A 19: 8,989,162 (GRCm39) L3482Q probably damaging Het
Arhgef5 A G 6: 43,257,890 (GRCm39) I1311M probably damaging Het
Bcr T A 10: 74,990,743 (GRCm39) Y750N probably damaging Het
Bcr T A 10: 74,990,745 (GRCm39) Y750* probably null Het
Btbd16 T A 7: 130,407,595 (GRCm39) M295K probably benign Het
Ccdc88a T C 11: 29,427,316 (GRCm39) L1007P possibly damaging Het
Cnep1r1 A G 8: 88,860,457 (GRCm39) *126W probably null Het
Cntnap5b C A 1: 99,894,935 (GRCm39) P69Q probably damaging Het
Coa8 T G 12: 111,700,108 (GRCm39) Y163D probably damaging Het
Col4a3 A G 1: 82,678,018 (GRCm39) M1207V unknown Het
Colgalt2 T A 1: 152,360,745 (GRCm39) W261R probably damaging Het
Cstf1 T A 2: 172,214,984 (GRCm39) I35N probably benign Het
Cstpp1 T C 2: 91,135,127 (GRCm39) D111G probably damaging Het
Cul9 A G 17: 46,830,823 (GRCm39) L1690P possibly damaging Het
Dscaml1 C A 9: 45,579,522 (GRCm39) N356K possibly damaging Het
Ecm2 A G 13: 49,668,518 (GRCm39) N74D probably benign Het
Ecm2 A G 13: 49,681,216 (GRCm39) I450M probably damaging Het
Emc1 T A 4: 139,091,035 (GRCm39) D460E probably benign Het
Fhip2b T C 14: 70,824,258 (GRCm39) Y493C probably benign Het
Fmo5 C T 3: 97,549,089 (GRCm39) R246C possibly damaging Het
Fyco1 T C 9: 123,657,585 (GRCm39) T864A possibly damaging Het
Galk2 T C 2: 125,817,218 (GRCm39) Y336H probably damaging Het
Gcsh T A 8: 117,720,125 (GRCm39) Y14F probably benign Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Gucy2g T C 19: 55,194,605 (GRCm39) I937M probably damaging Het
Hsp90ab1 T C 17: 45,880,600 (GRCm39) I370M possibly damaging Het
Hypk T C 2: 121,288,154 (GRCm39) S72P probably damaging Het
Ighv1-26 T C 12: 114,752,206 (GRCm39) Y46C probably damaging Het
Kctd13 G T 7: 126,544,180 (GRCm39) G293C probably damaging Het
Kmt2d CTGCTGTTGCTG CTGCTG 15: 98,743,054 (GRCm39) probably benign Het
Kmt2d CTGTTG CTG 15: 98,743,057 (GRCm39) probably benign Het
Krt13 T C 11: 100,012,318 (GRCm39) S2G probably benign Het
Mark4 C A 7: 19,167,338 (GRCm39) R467L possibly damaging Het
Mrps33 T A 6: 39,779,422 (GRCm39) K91M probably damaging Het
Or51f1 T G 7: 102,506,147 (GRCm39) H114P probably damaging Het
Or5ac25 A C 16: 59,182,242 (GRCm39) I113S probably benign Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Phldb3 G A 7: 24,328,372 (GRCm39) V639M probably damaging Het
Pigyl A T 9: 22,069,499 (GRCm39) H70L probably damaging Het
Pip4k2c A C 10: 127,036,069 (GRCm39) L266R probably damaging Het
Plg T C 17: 12,609,213 (GRCm39) Y173H probably benign Het
Pmp22 G T 11: 63,024,065 (GRCm39) V25F probably benign Het
Pot1b T A 17: 56,006,995 (GRCm39) T41S probably benign Het
Ppp1r16b T A 2: 158,537,998 (GRCm39) Y40N probably damaging Het
Prl5a1 A G 13: 28,329,492 (GRCm39) E57G possibly damaging Het
Prpf3 G A 3: 95,758,931 (GRCm39) R74* probably null Het
Psmb10 A G 8: 106,664,144 (GRCm39) F75S probably benign Het
Ptprm C A 17: 67,000,483 (GRCm39) R1167M probably damaging Het
Rmnd5b T C 11: 51,517,869 (GRCm39) I162V probably damaging Het
Sik1 T A 17: 32,073,246 (GRCm39) K70M probably damaging Het
Slc44a4 C T 17: 35,147,793 (GRCm39) S611F probably benign Het
St18 T C 1: 6,873,147 (GRCm39) V294A probably benign Het
Stk32a A G 18: 43,430,620 (GRCm39) I177V probably benign Het
Syne2 T C 12: 76,080,460 (GRCm39) F58S probably benign Het
Tcf7l2 A G 19: 55,899,038 (GRCm39) D215G probably null Het
Tcirg1 A T 19: 3,953,400 (GRCm39) F149Y probably benign Het
Tex14 T A 11: 87,377,084 (GRCm39) F143I probably damaging Het
Tjp3 A G 10: 81,119,411 (GRCm39) V26A possibly damaging Het
Tnfaip8 ACACACTCTC AC 18: 50,179,908 (GRCm39) probably benign Het
Tpx2 T A 2: 152,715,124 (GRCm39) V115D probably benign Het
Tubb2b C A 13: 34,311,742 (GRCm39) K350N probably damaging Het
Vps13b G T 15: 35,642,555 (GRCm39) G1389V possibly damaging Het
Vps39 T C 2: 120,172,485 (GRCm39) R183G probably damaging Het
Wdr47 A T 3: 108,518,729 (GRCm39) E72D probably damaging Het
Wnk4 G T 11: 101,159,250 (GRCm39) E556* probably null Het
Xpo7 T A 14: 70,925,617 (GRCm39) E474V probably benign Het
Zfat A G 15: 68,051,655 (GRCm39) V713A possibly damaging Het
Zfp189 G T 4: 49,530,058 (GRCm39) C387F probably damaging 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
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
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'- CACTTTCCACACTAGTCCTAGAG -3'
(R):5'- AGTGCCCATGCTTGTCCTTG -3'

Sequencing Primer
(F):5'- GTCCTAGAGACCCCCGTC -3'
(R):5'- GTCCTTGGTCACACATTGAAGCAG -3'
Posted On 2022-09-12