Incidental Mutation 'R5875:Zmiz2'
ID455484
Institutional Source Beutler Lab
Gene Symbol Zmiz2
Ensembl Gene ENSMUSG00000041164
Gene Namezinc finger, MIZ-type containing 2
SynonymsZimp7, D11Bwg0280e, 2410117E06Rik
MMRRC Submission 044082-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5875 (G1)
Quality Score225
Status Not validated
Chromosome11
Chromosomal Location6389074-6406158 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 6405072 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 913 (L913P)
Ref Sequence ENSEMBL: ENSMUSP00000105410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012612] [ENSMUST00000102914] [ENSMUST00000109785] [ENSMUST00000109786] [ENSMUST00000109787]
Predicted Effect probably damaging
Transcript: ENSMUST00000012612
AA Change: L913P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000012612
Gene: ENSMUSG00000041164
AA Change: L913P

DomainStartEndE-ValueType
low complexity region 60 82 N/A INTRINSIC
low complexity region 121 134 N/A INTRINSIC
low complexity region 147 170 N/A INTRINSIC
low complexity region 203 227 N/A INTRINSIC
low complexity region 247 264 N/A INTRINSIC
low complexity region 273 284 N/A INTRINSIC
low complexity region 289 307 N/A INTRINSIC
low complexity region 366 385 N/A INTRINSIC
Pfam:zf-MIZ 596 645 1.7e-26 PFAM
low complexity region 721 736 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102914
AA Change: L881P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099978
Gene: ENSMUSG00000041164
AA Change: L881P

DomainStartEndE-ValueType
low complexity region 89 102 N/A INTRINSIC
low complexity region 115 138 N/A INTRINSIC
low complexity region 171 195 N/A INTRINSIC
low complexity region 215 232 N/A INTRINSIC
low complexity region 241 252 N/A INTRINSIC
low complexity region 257 275 N/A INTRINSIC
low complexity region 334 353 N/A INTRINSIC
Pfam:zf-Nse 556 611 3.8e-8 PFAM
Pfam:zf-MIZ 564 613 5.4e-26 PFAM
low complexity region 689 704 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109785
AA Change: L887P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105408
Gene: ENSMUSG00000041164
AA Change: L887P

DomainStartEndE-ValueType
low complexity region 60 82 N/A INTRINSIC
low complexity region 121 134 N/A INTRINSIC
low complexity region 147 170 N/A INTRINSIC
low complexity region 203 227 N/A INTRINSIC
low complexity region 247 264 N/A INTRINSIC
low complexity region 273 284 N/A INTRINSIC
low complexity region 289 307 N/A INTRINSIC
low complexity region 340 359 N/A INTRINSIC
Pfam:zf-Nse 562 617 3.8e-8 PFAM
Pfam:zf-MIZ 570 619 5.4e-26 PFAM
low complexity region 695 710 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109786
AA Change: L913P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105409
Gene: ENSMUSG00000041164
AA Change: L913P

DomainStartEndE-ValueType
low complexity region 60 82 N/A INTRINSIC
low complexity region 121 134 N/A INTRINSIC
low complexity region 147 170 N/A INTRINSIC
low complexity region 203 227 N/A INTRINSIC
low complexity region 247 264 N/A INTRINSIC
low complexity region 273 284 N/A INTRINSIC
low complexity region 289 307 N/A INTRINSIC
low complexity region 366 385 N/A INTRINSIC
Pfam:zf-Nse 588 643 4e-8 PFAM
Pfam:zf-MIZ 596 645 5.6e-26 PFAM
low complexity region 721 736 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109787
AA Change: L913P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105410
Gene: ENSMUSG00000041164
AA Change: L913P

DomainStartEndE-ValueType
low complexity region 60 82 N/A INTRINSIC
low complexity region 121 134 N/A INTRINSIC
low complexity region 147 170 N/A INTRINSIC
low complexity region 203 227 N/A INTRINSIC
low complexity region 247 264 N/A INTRINSIC
low complexity region 273 284 N/A INTRINSIC
low complexity region 289 307 N/A INTRINSIC
low complexity region 366 385 N/A INTRINSIC
Pfam:zf-Nse 588 643 4e-8 PFAM
Pfam:zf-MIZ 596 645 5.6e-26 PFAM
low complexity region 721 736 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184154
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.4%
  • 20x: 91.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ZMIZ2 and ZMIZ1 (MIM 607159) are members of a PIAS (see MIM 603566)-like family of proteins that interact with nuclear hormone receptors. ZMIZ2 interacts with androgen receptor (AR; MIM 313700) and enhances AR-mediated transcription (Huang et al., 2005 [PubMed 16051670]).[supplied by OMIM, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik A G 2: 127,186,817 V154A possibly damaging Het
2900055J20Rik T A 18: 40,257,394 probably benign Het
4931417E11Rik T C 6: 73,469,045 I174V possibly damaging Het
4933417A18Rik T G 13: 34,932,446 C59W probably damaging Het
Abcc1 A G 16: 14,467,037 E1250G possibly damaging Het
Ajap1 A C 4: 153,432,341 I181R probably damaging Het
Akap9 A G 5: 4,077,285 Y3711C probably benign Het
Arl1 T C 10: 88,741,979 S137P probably benign Het
Atp6v0a2 G A 5: 124,716,327 V583I probably benign Het
Cdca7 T A 2: 72,483,557 M230K probably benign Het
Chd9 A T 8: 91,051,836 D2841V probably damaging Het
Chp1 T A 2: 119,571,815 F90Y probably damaging Het
Ckap5 A G 2: 91,560,861 T345A probably benign Het
Clca4b A C 3: 144,922,889 S352R probably benign Het
Cmya5 A G 13: 93,095,184 V1132A probably benign Het
Crb2 T A 2: 37,787,254 probably null Het
Crhbp A G 13: 95,443,796 F99L probably benign Het
Dnmt3l A T 10: 78,053,938 M210L probably benign Het
Dyrk2 T A 10: 118,860,697 R219W probably damaging Het
Exosc1 A G 19: 41,928,103 I78T probably damaging Het
Exosc9 T C 3: 36,561,193 probably null Het
Frmd5 A G 2: 121,558,478 probably benign Het
Gata2 T C 6: 88,202,491 L315P probably damaging Het
Gm17067 G A 7: 42,708,046 T344I probably benign Het
Gm4884 A T 7: 41,042,936 T110S possibly damaging Het
Hapln3 T C 7: 79,121,973 E56G probably benign Het
Helq A C 5: 100,796,470 I258S probably damaging Het
Hoxd10 T C 2: 74,692,082 Y35H possibly damaging Het
Inpp5b T C 4: 124,780,406 V302A possibly damaging Het
Inpp5d T A 1: 87,717,974 I1027N possibly damaging Het
Ints2 T C 11: 86,238,312 S482G probably benign Het
Itih1 C T 14: 30,929,530 V902I probably benign Het
Kif27 T C 13: 58,311,104 N971S probably benign Het
Klra17 T C 6: 129,874,828 D27G probably benign Het
Leo1 G C 9: 75,450,560 R412S probably damaging Het
Lonrf2 T C 1: 38,807,047 N348S probably benign Het
Lpp G A 16: 24,608,309 G62E probably benign Het
Lyn G A 4: 3,745,631 probably null Het
Macf1 T A 4: 123,432,314 N5128I possibly damaging Het
Mapk7 T A 11: 61,493,698 I61L probably benign Het
Mindy1 T C 3: 95,294,814 V334A probably damaging Het
Muc20 G A 16: 32,793,819 T396I possibly damaging Het
Myo5b A T 18: 74,707,902 probably null Het
Noc4l A C 5: 110,651,310 probably null Het
Oas1c A G 5: 120,805,562 Y171H probably damaging Het
Pclo A T 5: 14,680,600 probably benign Het
Pmpcb G A 5: 21,742,946 E216K probably benign Het
Pskh1 G A 8: 105,913,099 R137Q possibly damaging Het
Ptprb T G 10: 116,348,166 W1628G probably benign Het
Ranbp3 T A 17: 56,707,955 probably null Het
Rnf165 T C 18: 77,563,181 probably benign Het
Sart1 T C 19: 5,383,795 D338G probably damaging Het
Scn8a T A 15: 100,972,822 Y251* probably null Het
Sdk2 G T 11: 113,830,059 T1348K probably benign Het
Sec16a A G 2: 26,433,367 Y1272H probably damaging Het
Slc26a1 A T 5: 108,672,037 L432Q probably damaging Het
Susd1 A T 4: 59,412,203 F117I possibly damaging Het
Taf5 A T 19: 47,076,110 Y465F probably damaging Het
Tcstv1 T A 13: 119,894,094 M1L probably benign Het
Tectb A G 19: 55,189,626 D193G possibly damaging Het
Tirap G A 9: 35,189,169 P73L probably damaging Het
Tm6sf2 A G 8: 70,075,389 D86G possibly damaging Het
Tmem161b A T 13: 84,294,858 H481L probably damaging Het
Tnrc6c G A 11: 117,759,708 V1763I probably damaging Het
Ubxn1 T C 19: 8,872,220 S75P probably benign Het
Uhrf2 A G 19: 30,089,302 K709E probably damaging Het
Vmn2r101 T A 17: 19,588,830 Y74N probably damaging Het
Xirp2 A G 2: 67,505,080 E81G probably benign Het
Zbtb45 A G 7: 13,008,310 V7A possibly damaging Het
Zfp668 C A 7: 127,866,302 R570L possibly damaging Het
Zmiz1 T A 14: 25,635,966 M125K possibly damaging Het
Other mutations in Zmiz2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00923:Zmiz2 APN 11 6402845 missense probably damaging 0.98
IGL01345:Zmiz2 APN 11 6405015 missense possibly damaging 0.96
IGL01382:Zmiz2 APN 11 6403781 splice site probably null
IGL02942:Zmiz2 APN 11 6399500 splice site probably benign
IGL03156:Zmiz2 APN 11 6399536 missense probably damaging 1.00
IGL03301:Zmiz2 APN 11 6401170 missense probably damaging 1.00
P0037:Zmiz2 UTSW 11 6403885 missense probably damaging 1.00
R0938:Zmiz2 UTSW 11 6397185 missense probably benign
R1666:Zmiz2 UTSW 11 6396836 missense probably benign 0.00
R1692:Zmiz2 UTSW 11 6400795 missense probably damaging 1.00
R4877:Zmiz2 UTSW 11 6403251 missense probably damaging 1.00
R5375:Zmiz2 UTSW 11 6397519 nonsense probably null
R5646:Zmiz2 UTSW 11 6402837 missense probably damaging 1.00
R5783:Zmiz2 UTSW 11 6405081 missense probably damaging 1.00
R6276:Zmiz2 UTSW 11 6395604 unclassified probably null
R6962:Zmiz2 UTSW 11 6402455 missense probably damaging 1.00
R6974:Zmiz2 UTSW 11 6397566 nonsense probably null
R6983:Zmiz2 UTSW 11 6402413 missense probably damaging 1.00
R7271:Zmiz2 UTSW 11 6399593 missense probably damaging 1.00
Z1088:Zmiz2 UTSW 11 6399603 missense probably damaging 1.00
Z1176:Zmiz2 UTSW 11 6403871 missense possibly damaging 0.68
Z1177:Zmiz2 UTSW 11 6397580 missense possibly damaging 0.50
Z1177:Zmiz2 UTSW 11 6401230 missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TTTAGCATTCCCACTGGGC -3'
(R):5'- AGAACCATTCTGGAGCAGTGAG -3'

Sequencing Primer
(F):5'- CCTGAGGCCAGAACAGCTTG -3'
(R):5'- AGGGCTGCTTCCAGTTCATCAG -3'
Posted On2017-02-10