Incidental Mutation 'IGL02008:Zmiz1'
ID183281
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zmiz1
Ensembl Gene ENSMUSG00000007817
Gene Namezinc finger, MIZ-type containing 1
SynonymsRai17, Zimp10
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02008
Quality Score
Status
Chromosome14
Chromosomal Location25459185-25666743 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 25656879 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 860 (M860V)
Ref Sequence ENSEMBL: ENSMUSP00000124863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007961] [ENSMUST00000162645]
Predicted Effect probably damaging
Transcript: ENSMUST00000007961
AA Change: M854V

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000007961
Gene: ENSMUSG00000007817
AA Change: M854V

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: ENSMUST00000162546
Predicted Effect probably damaging
Transcript: ENSMUST00000162645
AA Change: M860V

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124863
Gene: ENSMUSG00000007817
AA Change: M860V

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
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 122,176,101 T2252A probably benign Het
Abcc2 C T 19: 43,821,750 probably benign Het
Abcf1 T C 17: 35,962,062 E231G probably benign Het
Astn2 T C 4: 66,059,153 Y379C probably damaging Het
Atp8b1 G T 18: 64,538,695 probably benign Het
Atr T A 9: 95,881,420 probably benign Het
Bdp1 A G 13: 100,023,827 S2349P possibly damaging Het
Bmp2 T C 2: 133,560,966 S146P probably damaging Het
Cacna1c T C 6: 118,715,924 S218G probably null Het
Cand2 T C 6: 115,803,638 V1161A probably damaging Het
Clec16a T C 16: 10,580,960 V330A probably damaging Het
Cpsf1 A T 15: 76,603,091 V161D probably damaging Het
Ctsh A G 9: 90,061,547 Y75C probably damaging Het
Cyp26c1 C A 19: 37,688,923 L267M probably damaging Het
Cyp26c1 T A 19: 37,688,924 L267Q probably damaging Het
Cyp2c50 G A 19: 40,091,099 W212* probably null Het
Dnah5 T A 15: 28,343,552 M2366K probably damaging Het
Ermp1 A G 19: 29,612,920 M794T probably damaging Het
F11 G T 8: 45,250,095 S186Y probably damaging Het
Fam184b A T 5: 45,532,823 F815I possibly damaging Het
Fezf2 T C 14: 12,343,705 I347V probably benign Het
Fip1l1 C T 5: 74,545,423 T114I possibly damaging Het
Gbp7 A C 3: 142,546,450 D598A probably benign Het
Gm1110 T A 9: 26,883,230 D500V probably benign Het
Gm1840 A T 8: 5,639,896 noncoding transcript Het
Gm3248 T A 14: 5,943,928 M99L probably benign Het
Gm906 G A 13: 50,246,685 P535L probably benign Het
Hspa9 G A 18: 34,947,975 R218* probably null Het
Ikbip G A 10: 91,093,257 probably null Het
Kcnb2 C T 1: 15,710,809 T635M probably benign Het
Krtap29-1 T A 11: 99,978,279 I259F possibly damaging Het
Lnpep T C 17: 17,570,957 T442A probably benign Het
Mgat1 T A 11: 49,260,735 I15N probably damaging Het
Nlrp9c A T 7: 26,385,151 S334R probably benign Het
Notch2 A T 3: 98,147,296 D2425V probably damaging Het
Ntn1 C T 11: 68,213,263 V520M probably damaging Het
Olfr1089 A C 2: 86,733,177 I145R possibly damaging Het
Olfr1167 A T 2: 88,149,578 V147E probably damaging Het
Olfr1179 T A 2: 88,402,077 T286S possibly damaging Het
Olfr149 A G 9: 39,702,253 V172A probably damaging Het
Olfr803 T A 10: 129,692,018 T8S probably benign Het
Olfr972 A T 9: 39,873,485 D70V probably damaging Het
Osr2 A G 15: 35,301,992 H246R probably damaging Het
Papolg T C 11: 23,879,898 R224G probably damaging Het
Pax6 T A 2: 105,692,278 probably null Het
Pcyox1 A G 6: 86,392,268 V192A probably benign Het
Phf1 C T 17: 26,935,286 A159V possibly damaging Het
Ppfia4 G A 1: 134,332,391 R45W probably damaging Het
Psmb9 T A 17: 34,183,679 K109M probably damaging Het
Ptprt T A 2: 161,927,673 Y424F probably benign Het
Ptrh2 A G 11: 86,689,766 I70V probably benign Het
Rnf213 G A 11: 119,418,309 probably benign Het
Rom1 T A 19: 8,928,004 I271F probably benign Het
Satb2 T A 1: 56,796,793 D731V possibly damaging Het
Serpinb7 G T 1: 107,448,129 G159V possibly damaging Het
Slit1 T C 19: 41,646,140 I393V probably damaging Het
Spata20 T A 11: 94,483,463 D327V probably damaging Het
Tbc1d32 G T 10: 56,151,775 Q744K possibly damaging Het
Thegl A T 5: 77,060,758 I378L probably benign Het
Tmem108 G T 9: 103,489,240 N517K possibly damaging Het
Trp63 T A 16: 25,862,461 N160K probably damaging Het
Ttll5 T C 12: 85,933,611 S119P probably damaging Het
Ubqln3 T A 7: 104,142,316 Q189L probably damaging Het
Vwa5a G A 9: 38,737,776 R638H probably benign Het
Wdr3 A G 3: 100,150,982 S436P probably damaging Het
Zfp975 A T 7: 42,662,791 C133S probably damaging Het
Zfp976 A T 7: 42,614,232 probably benign Het
Zscan4d T C 7: 11,162,369 E358G probably benign Het
Other mutations in Zmiz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00553:Zmiz1 APN 14 25572070 start codon destroyed probably null 0.53
IGL01582:Zmiz1 APN 14 25658230 missense probably benign 0.00
IGL01601:Zmiz1 APN 14 25581644 missense possibly damaging 0.68
IGL02395:Zmiz1 APN 14 25656763 missense probably damaging 1.00
IGL02836:Zmiz1 APN 14 25656742 splice site probably benign
zapp UTSW 14 25662980 missense unknown
R0144:Zmiz1 UTSW 14 25655247 missense probably damaging 1.00
R0255:Zmiz1 UTSW 14 25654495 splice site probably benign
R1006:Zmiz1 UTSW 14 25662980 missense unknown
R1160:Zmiz1 UTSW 14 25654512 missense probably damaging 1.00
R1222:Zmiz1 UTSW 14 25658096 splice site probably benign
R2846:Zmiz1 UTSW 14 25645675 missense probably benign 0.03
R4126:Zmiz1 UTSW 14 25656930 missense possibly damaging 0.94
R4373:Zmiz1 UTSW 14 25636010 missense probably damaging 0.97
R4374:Zmiz1 UTSW 14 25636010 missense probably damaging 0.97
R4377:Zmiz1 UTSW 14 25636010 missense probably damaging 0.97
R4533:Zmiz1 UTSW 14 25645660 missense probably damaging 1.00
R4726:Zmiz1 UTSW 14 25643674 critical splice donor site probably null
R5295:Zmiz1 UTSW 14 25656347 missense probably damaging 1.00
R5385:Zmiz1 UTSW 14 25649813 missense probably damaging 1.00
R5579:Zmiz1 UTSW 14 25644856 missense probably damaging 0.96
R5761:Zmiz1 UTSW 14 25651304 missense possibly damaging 0.86
R5761:Zmiz1 UTSW 14 25651306 missense probably damaging 1.00
R5844:Zmiz1 UTSW 14 25656930 missense probably damaging 1.00
R5875:Zmiz1 UTSW 14 25635966 missense possibly damaging 0.55
R6051:Zmiz1 UTSW 14 25572070 start codon destroyed probably null 0.53
R6919:Zmiz1 UTSW 14 25643638 missense probably damaging 1.00
R7083:Zmiz1 UTSW 14 25651948 missense probably damaging 1.00
R7216:Zmiz1 UTSW 14 25576200 frame shift probably null
R7216:Zmiz1 UTSW 14 25576207 missense probably damaging 0.99
R7216:Zmiz1 UTSW 14 25576209 missense probably damaging 0.99
R7233:Zmiz1 UTSW 14 25649668 missense possibly damaging 0.61
X0023:Zmiz1 UTSW 14 25649684 missense probably damaging 0.96
Z1176:Zmiz1 UTSW 14 25645744 missense probably damaging 1.00
Posted On2014-05-07