Incidental Mutation 'R5844:Zmiz1'
ID 450609
Institutional Source Beutler Lab
Gene Symbol Zmiz1
Ensembl Gene ENSMUSG00000007817
Gene Name zinc finger, MIZ-type containing 1
Synonyms Rai17, Zimp10
MMRRC Submission 044062-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5844 (G1)
Quality Score 179
Status Validated
Chromosome 14
Chromosomal Location 25459609-25667167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25657354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 871 (S871P)
Ref Sequence ENSEMBL: ENSMUSP00000007961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007961] [ENSMUST00000162645]
AlphaFold Q6P1E1
Predicted Effect probably damaging
Transcript: ENSMUST00000007961
AA Change: S871P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000007961
Gene: ENSMUSG00000007817
AA Change: S871P

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: S877P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124863
Gene: ENSMUSG00000007817
AA Change: S877P

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 0.1328 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 98% (55/56)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A T 15: 81,950,065 (GRCm39) M1321L probably benign Het
Adra1a C T 14: 66,965,183 (GRCm39) T391I probably benign Het
Atf7ip C A 6: 136,583,812 (GRCm39) A1281D probably damaging Het
BC005624 T C 2: 30,866,023 (GRCm39) N141S probably benign Het
Catsperg2 A T 7: 29,397,257 (GRCm39) L1082Q possibly damaging Het
Cavin2 C T 1: 51,328,998 (GRCm39) R152C probably damaging Het
Ccdc33 C T 9: 57,940,489 (GRCm39) probably benign Het
Cfap43 T C 19: 47,784,135 (GRCm39) D466G probably benign Het
Cfap46 C A 7: 139,230,858 (GRCm39) M923I probably damaging Het
Chd1l T A 3: 97,479,883 (GRCm39) K621N probably benign Het
Cnksr1 A G 4: 133,955,575 (GRCm39) probably benign Het
Cym T C 3: 107,127,080 (GRCm39) H25R probably benign Het
Dagla T A 19: 10,248,489 (GRCm39) D57V probably damaging Het
Dnah3 TTCCTC TTC 7: 119,550,244 (GRCm39) probably benign Het
Dse T A 10: 34,029,038 (GRCm39) D684V probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fbxo10 A T 4: 45,058,760 (GRCm39) S326T probably benign Het
Galntl5 G T 5: 25,391,091 (GRCm39) probably benign Het
Grm5 A G 7: 87,453,232 (GRCm39) R290G possibly damaging Het
Gtpbp3 A G 8: 71,945,199 (GRCm39) T425A probably benign Het
Hepacam2 A G 6: 3,476,073 (GRCm39) I284T probably damaging Het
Ifi205 A C 1: 173,854,258 (GRCm39) probably null Het
Irs3 T C 5: 137,642,548 (GRCm39) T297A probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Map4k4 T A 1: 40,039,036 (GRCm39) probably benign Het
Mfsd6 T C 1: 52,697,542 (GRCm39) S782G probably benign Het
Mis18a G A 16: 90,523,969 (GRCm39) silent Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Myom2 G A 8: 15,181,182 (GRCm39) probably null Het
Ntaq1 A G 15: 58,017,056 (GRCm39) N157S probably benign Het
Or13a1 A T 6: 116,470,900 (GRCm39) E110V probably damaging Het
Or5g25 A G 2: 85,478,239 (GRCm39) V142A probably benign Het
Pde3b C T 7: 114,108,106 (GRCm39) T568I probably benign Het
Pip4p1 T C 14: 51,166,499 (GRCm39) T160A probably benign Het
Pkhd1 G T 1: 20,451,685 (GRCm39) D2203E probably benign Het
Ppp1r36 A G 12: 76,473,566 (GRCm39) K66E possibly damaging Het
Rfc1 C A 5: 65,451,130 (GRCm39) M319I probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Runx1t1 T C 4: 13,881,068 (GRCm39) V456A probably damaging Het
Rxfp2 A G 5: 149,966,589 (GRCm39) K109R probably benign Het
Sgo2a T G 1: 58,055,556 (GRCm39) V580G probably damaging Het
Skint9 T C 4: 112,271,080 (GRCm39) Q110R probably benign Het
Slc38a9 A G 13: 112,868,035 (GRCm39) Y507C probably damaging Het
Smarca4 T A 9: 21,589,238 (GRCm39) probably benign Het
Tmem88 C G 11: 69,288,504 (GRCm39) Q138H probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tns3 A C 11: 8,384,580 (GRCm39) F1413V probably damaging Het
Trpm8 T C 1: 88,312,433 (GRCm39) *1105Q probably null Het
Zfp853 C T 5: 143,274,424 (GRCm39) V399M unknown Het
Zim1 T C 7: 6,681,115 (GRCm39) R183G 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
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'- TCACCATTGACCCCACGT -3'
(R):5'- CATTCTCCCAAGTCCAGTGACC -3'

Sequencing Primer
(F):5'- ATTGACCCCACGTGCAGC -3'
(R):5'- TCTGGGAATTGAACCTACGC -3'
Posted On 2016-12-20