Incidental Mutation 'R8765:Ciz1'
ID 667795
Institutional Source Beutler Lab
Gene Symbol Ciz1
Ensembl Gene ENSMUSG00000039205
Gene Name CDKN1A interacting zinc finger protein 1
Synonyms 0610038H21Rik, 2900056O04Rik
MMRRC Submission 068599-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.128) question?
Stock # R8765 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 32252724-32268311 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32260895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 269 (K269E)
Ref Sequence ENSEMBL: ENSMUSP00000048428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048964] [ENSMUST00000113331] [ENSMUST00000113332] [ENSMUST00000113334] [ENSMUST00000113338] [ENSMUST00000125818] [ENSMUST00000131152] [ENSMUST00000132028] [ENSMUST00000136079]
AlphaFold Q8VEH2
Predicted Effect probably damaging
Transcript: ENSMUST00000048964
AA Change: K269E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048428
Gene: ENSMUSG00000039205
AA Change: K269E

DomainStartEndE-ValueType
coiled coil region 5 45 N/A INTRINSIC
low complexity region 58 80 N/A INTRINSIC
low complexity region 85 99 N/A INTRINSIC
low complexity region 128 140 N/A INTRINSIC
low complexity region 245 256 N/A INTRINSIC
low complexity region 361 390 N/A INTRINSIC
ZnF_U1 534 568 1.23e-1 SMART
ZnF_C2H2 537 561 1.99e0 SMART
ZnF_U1 626 660 2.08e-1 SMART
ZnF_C2H2 629 653 3.02e0 SMART
low complexity region 689 709 N/A INTRINSIC
ZnF_U1 744 779 1.43e-4 SMART
ZnF_C2H2 747 772 9.56e1 SMART
low complexity region 823 845 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113331
AA Change: K245E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108957
Gene: ENSMUSG00000039205
AA Change: K245E

DomainStartEndE-ValueType
coiled coil region 5 45 N/A INTRINSIC
low complexity region 58 80 N/A INTRINSIC
low complexity region 85 100 N/A INTRINSIC
low complexity region 104 116 N/A INTRINSIC
low complexity region 221 232 N/A INTRINSIC
internal_repeat_2 252 284 9.48e-5 PROSPERO
internal_repeat_2 301 333 9.48e-5 PROSPERO
low complexity region 337 366 N/A INTRINSIC
ZnF_U1 510 544 1.23e-1 SMART
ZnF_C2H2 513 537 1.99e0 SMART
ZnF_U1 602 636 2.08e-1 SMART
ZnF_C2H2 605 629 3.02e0 SMART
low complexity region 665 685 N/A INTRINSIC
ZnF_U1 720 755 1.43e-4 SMART
ZnF_C2H2 723 748 9.56e1 SMART
low complexity region 799 821 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113332
AA Change: K264E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108958
Gene: ENSMUSG00000039205
AA Change: K264E

DomainStartEndE-ValueType
coiled coil region 5 45 N/A INTRINSIC
low complexity region 58 80 N/A INTRINSIC
low complexity region 85 99 N/A INTRINSIC
low complexity region 128 140 N/A INTRINSIC
low complexity region 240 251 N/A INTRINSIC
ZnF_U1 480 514 1.23e-1 SMART
ZnF_C2H2 483 507 1.99e0 SMART
Blast:ZnF_U1 543 570 2e-6 BLAST
ZnF_U1 572 606 2.08e-1 SMART
ZnF_C2H2 575 599 3.02e0 SMART
low complexity region 635 655 N/A INTRINSIC
ZnF_U1 690 725 1.43e-4 SMART
ZnF_C2H2 693 718 9.56e1 SMART
low complexity region 769 791 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113334
AA Change: K269E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108960
Gene: ENSMUSG00000039205
AA Change: K269E

DomainStartEndE-ValueType
coiled coil region 5 45 N/A INTRINSIC
low complexity region 58 80 N/A INTRINSIC
low complexity region 85 99 N/A INTRINSIC
low complexity region 128 140 N/A INTRINSIC
low complexity region 245 256 N/A INTRINSIC
low complexity region 361 390 N/A INTRINSIC
ZnF_U1 534 568 1.23e-1 SMART
ZnF_C2H2 537 561 1.99e0 SMART
ZnF_U1 626 660 2.08e-1 SMART
ZnF_C2H2 629 653 3.02e0 SMART
low complexity region 689 709 N/A INTRINSIC
ZnF_U1 744 779 1.43e-4 SMART
ZnF_C2H2 747 772 9.56e1 SMART
low complexity region 823 845 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113338
AA Change: K269E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108964
Gene: ENSMUSG00000039205
AA Change: K269E

DomainStartEndE-ValueType
coiled coil region 5 45 N/A INTRINSIC
low complexity region 58 80 N/A INTRINSIC
low complexity region 85 99 N/A INTRINSIC
low complexity region 128 140 N/A INTRINSIC
low complexity region 245 256 N/A INTRINSIC
low complexity region 361 390 N/A INTRINSIC
ZnF_U1 534 568 1.23e-1 SMART
ZnF_C2H2 537 561 1.99e0 SMART
ZnF_U1 626 660 2.08e-1 SMART
ZnF_C2H2 629 653 3.02e0 SMART
low complexity region 689 709 N/A INTRINSIC
ZnF_U1 744 779 1.43e-4 SMART
ZnF_C2H2 747 772 9.56e1 SMART
low complexity region 823 845 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125482
SMART Domains Protein: ENSMUSP00000120019
Gene: ENSMUSG00000039205

DomainStartEndE-ValueType
ZnF_C2H2 216 240 1.99e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125818
SMART Domains Protein: ENSMUSP00000117937
Gene: ENSMUSG00000039205

DomainStartEndE-ValueType
Blast:ZnF_U1 4 31 3e-6 BLAST
ZnF_U1 33 67 2.08e-1 SMART
ZnF_C2H2 36 60 3.02e0 SMART
low complexity region 96 116 N/A INTRINSIC
ZnF_U1 151 186 1.43e-4 SMART
ZnF_C2H2 154 179 9.56e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131152
SMART Domains Protein: ENSMUSP00000141211
Gene: ENSMUSG00000039205

DomainStartEndE-ValueType
coiled coil region 5 45 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132028
SMART Domains Protein: ENSMUSP00000120295
Gene: ENSMUSG00000039205

DomainStartEndE-ValueType
coiled coil region 5 45 N/A INTRINSIC
low complexity region 58 80 N/A INTRINSIC
low complexity region 85 99 N/A INTRINSIC
low complexity region 128 140 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136079
SMART Domains Protein: ENSMUSP00000116812
Gene: ENSMUSG00000039205

DomainStartEndE-ValueType
coiled coil region 5 45 N/A INTRINSIC
low complexity region 58 80 N/A INTRINSIC
low complexity region 85 99 N/A INTRINSIC
low complexity region 128 140 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000139637
AA Change: K108E

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122469
Gene: ENSMUSG00000039205
AA Change: K108E

DomainStartEndE-ValueType
low complexity region 85 96 N/A INTRINSIC
low complexity region 201 230 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000151806
AA Change: K93E

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000119429
Gene: ENSMUSG00000039205
AA Change: K93E

DomainStartEndE-ValueType
low complexity region 70 81 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (71/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger DNA binding protein that interacts with CIP1, part of a complex with cyclin E. The encoded protein may regulate the cellular localization of CIP1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice hoomozygous for a knock-out allele exhibit decreased body size and gender specific effects on motor phenotypes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik G A 2: 68,566,956 (GRCm39) D452N possibly damaging Het
Actr1a G T 19: 46,372,787 (GRCm39) probably benign Het
Alox15 A G 11: 70,240,819 (GRCm39) V187A probably benign Het
Alpk1 A T 3: 127,466,118 (GRCm39) N1129K probably damaging Het
Angptl1 A G 1: 156,684,727 (GRCm39) N299D probably benign Het
Ank2 T C 3: 126,850,731 (GRCm39) T128A possibly damaging Het
Armh4 C T 14: 49,920,100 (GRCm39) R743K probably damaging Het
Arsj G A 3: 126,232,781 (GRCm39) R509K probably benign Het
Atp6v0a2 G A 5: 124,793,534 (GRCm39) M630I probably damaging Het
BC107364 T C 3: 96,341,751 (GRCm39) H122R unknown Het
Bdh2 T C 3: 134,996,841 (GRCm39) M112T probably benign Het
C1qtnf3 G A 15: 10,952,843 (GRCm39) probably null Het
Cables1 T C 18: 12,056,422 (GRCm39) L326P probably benign Het
Cacna1c C A 6: 118,580,844 (GRCm39) A1769S Het
Cacna2d2 T C 9: 107,394,358 (GRCm39) L567P probably damaging Het
Cacnb4 C T 2: 52,327,001 (GRCm39) R399H probably damaging Het
Cacng4 A C 11: 107,625,976 (GRCm39) I205S probably damaging Het
Csf1 A G 3: 107,663,991 (GRCm39) V35A probably benign Het
Csmd1 G T 8: 16,760,627 (GRCm39) Y169* probably null Het
Ctnna1 T A 18: 35,384,293 (GRCm39) M756K probably damaging Het
Dnah7b T A 1: 46,392,159 (GRCm39) L3840Q possibly damaging Het
Fabp9 T C 3: 10,258,813 (GRCm39) *143W probably null Het
Fh1 C T 1: 175,435,378 (GRCm39) probably benign Het
Fmo2 T C 1: 162,707,966 (GRCm39) T390A probably benign Het
Fsip1 G T 2: 118,082,154 (GRCm39) D93E possibly damaging Het
Golga5 A G 12: 102,445,963 (GRCm39) D406G probably benign Het
Gucy2d C A 7: 98,108,347 (GRCm39) A760E probably benign Het
Hax1 T C 3: 89,904,780 (GRCm39) I141V probably benign Het
Hid1 T A 11: 115,239,786 (GRCm39) probably null Het
Hmcn1 C T 1: 150,556,413 (GRCm39) V2458I probably damaging Het
Igkv4-72 A G 6: 69,203,894 (GRCm39) V99A probably benign Het
Igkv5-39 G A 6: 69,877,915 (GRCm39) S16L probably benign Het
Ints4 T A 7: 97,151,016 (GRCm39) D294E possibly damaging Het
Lcn11 A G 2: 25,668,139 (GRCm39) Y99C probably damaging Het
Lrrc8b G A 5: 105,629,133 (GRCm39) R493H probably benign Het
Mon1b A T 8: 114,362,881 (GRCm39) D43V possibly damaging Het
Mrpl9 G A 3: 94,355,129 (GRCm39) V234I possibly damaging Het
Nek10 A T 14: 14,999,104 (GRCm38) E1034D probably damaging Het
Nfxl1 T C 5: 72,686,443 (GRCm39) H586R probably benign Het
Nit2 T A 16: 56,979,832 (GRCm39) D211V probably benign Het
Nle1 G A 11: 82,793,882 (GRCm39) R385C probably damaging Het
Or10ak12 T C 4: 118,666,159 (GRCm39) T301A probably benign Het
Or1i2 C T 10: 78,448,429 (GRCm39) M15I probably benign Het
Or2a25 T C 6: 42,889,102 (GRCm39) V215A probably benign Het
Or2ab1 G T 11: 58,488,785 (GRCm39) V182F possibly damaging Het
Or6ae1 T C 7: 139,742,467 (GRCm39) H132R probably benign Het
Or6c213 A G 10: 129,574,511 (GRCm39) Y92H probably damaging Het
Pcdh10 T C 3: 45,333,923 (GRCm39) I79T probably damaging Het
Peg10 A G 6: 4,754,492 (GRCm39) D91G unknown Het
Plec C T 15: 76,066,045 (GRCm39) A1342T unknown Het
Ppp2r3d A G 9: 124,439,649 (GRCm38) V68A Het
Pramel46 T C 5: 95,419,447 (GRCm39) M1V probably null Het
Psd3 A T 8: 68,416,093 (GRCm39) D315E possibly damaging Het
Rack1 A G 11: 48,694,286 (GRCm39) N162S probably benign Het
Slc12a8 C A 16: 33,338,731 (GRCm39) H11Q possibly damaging Het
Slc44a5 A T 3: 153,968,561 (GRCm39) D584V probably damaging Het
Spata18 T C 5: 73,825,992 (GRCm39) S100P Het
Stap2 G T 17: 56,310,145 (GRCm39) S53R probably damaging Het
Timeless T C 10: 128,080,412 (GRCm39) probably null Het
Tlk1 A T 2: 70,582,581 (GRCm39) S183T probably benign Het
Tpp2 T A 1: 44,011,849 (GRCm39) probably null Het
Ttn A T 2: 76,654,663 (GRCm39) probably benign Het
Uri1 A G 7: 37,696,145 (GRCm39) V40A probably benign Het
Vmn1r15 T C 6: 57,235,585 (GRCm39) V151A probably benign Het
Vmn1r198 A C 13: 22,539,269 (GRCm39) I252L probably damaging Het
Vmn2r101 T A 17: 19,809,245 (GRCm39) W125R probably damaging Het
Wdr89 A G 12: 75,679,688 (GRCm39) S189P probably damaging Het
Zfp1006 T C 8: 129,948,070 (GRCm39) D49G probably benign Het
Zfp873 T A 10: 81,896,072 (GRCm39) C268S probably damaging Het
Zfp932 T A 5: 110,154,827 (GRCm39) D8E probably benign Het
Zfyve16 T C 13: 92,658,055 (GRCm39) R619G probably benign Het
Zswim2 A T 2: 83,771,431 (GRCm39) I31N probably damaging Het
Other mutations in Ciz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Ciz1 APN 2 32,262,400 (GRCm39) missense probably damaging 1.00
IGL01872:Ciz1 APN 2 32,268,121 (GRCm39) utr 3 prime probably benign
R0029:Ciz1 UTSW 2 32,261,431 (GRCm39) splice site probably benign
R0122:Ciz1 UTSW 2 32,261,431 (GRCm39) splice site probably benign
R0363:Ciz1 UTSW 2 32,267,375 (GRCm39) critical splice donor site probably null
R0373:Ciz1 UTSW 2 32,257,479 (GRCm39) missense probably damaging 1.00
R0653:Ciz1 UTSW 2 32,262,418 (GRCm39) missense probably damaging 1.00
R0816:Ciz1 UTSW 2 32,266,388 (GRCm39) unclassified probably benign
R1255:Ciz1 UTSW 2 32,255,888 (GRCm39) critical splice donor site probably null
R2116:Ciz1 UTSW 2 32,257,477 (GRCm39) missense probably damaging 0.99
R3161:Ciz1 UTSW 2 32,260,075 (GRCm39) missense probably benign 0.11
R3732:Ciz1 UTSW 2 32,257,495 (GRCm39) missense possibly damaging 0.68
R4014:Ciz1 UTSW 2 32,264,356 (GRCm39) missense probably damaging 0.96
R4386:Ciz1 UTSW 2 32,260,111 (GRCm39) missense possibly damaging 0.92
R4687:Ciz1 UTSW 2 32,257,477 (GRCm39) missense probably damaging 0.99
R4786:Ciz1 UTSW 2 32,267,539 (GRCm39) missense probably damaging 1.00
R4825:Ciz1 UTSW 2 32,261,753 (GRCm39) missense probably damaging 0.99
R4869:Ciz1 UTSW 2 32,254,247 (GRCm39) missense probably damaging 0.99
R4871:Ciz1 UTSW 2 32,262,300 (GRCm39) splice site probably benign
R5270:Ciz1 UTSW 2 32,264,511 (GRCm39) splice site probably null
R5429:Ciz1 UTSW 2 32,266,055 (GRCm39) missense possibly damaging 0.93
R5621:Ciz1 UTSW 2 32,261,753 (GRCm39) missense probably damaging 0.96
R5721:Ciz1 UTSW 2 32,266,052 (GRCm39) missense probably damaging 1.00
R5805:Ciz1 UTSW 2 32,257,408 (GRCm39) missense probably damaging 1.00
R5960:Ciz1 UTSW 2 32,261,228 (GRCm39) missense possibly damaging 0.85
R6187:Ciz1 UTSW 2 32,260,063 (GRCm39) missense possibly damaging 0.90
R6612:Ciz1 UTSW 2 32,267,323 (GRCm39) missense possibly damaging 0.93
R7006:Ciz1 UTSW 2 32,261,127 (GRCm39) critical splice donor site probably null
R7200:Ciz1 UTSW 2 32,254,299 (GRCm39) missense probably damaging 1.00
R7498:Ciz1 UTSW 2 32,261,761 (GRCm39) missense probably benign
R7574:Ciz1 UTSW 2 32,257,380 (GRCm39) missense probably benign 0.16
R7910:Ciz1 UTSW 2 32,260,139 (GRCm39) critical splice donor site probably null
R8390:Ciz1 UTSW 2 32,257,335 (GRCm39) missense probably benign 0.00
R8749:Ciz1 UTSW 2 32,255,848 (GRCm39) missense probably benign 0.03
R8784:Ciz1 UTSW 2 32,260,262 (GRCm39) missense probably benign 0.01
R8812:Ciz1 UTSW 2 32,254,286 (GRCm39) missense probably benign 0.00
R8927:Ciz1 UTSW 2 32,257,512 (GRCm39) nonsense probably null
R8928:Ciz1 UTSW 2 32,257,512 (GRCm39) nonsense probably null
R9681:Ciz1 UTSW 2 32,260,974 (GRCm39) missense possibly damaging 0.71
R9744:Ciz1 UTSW 2 32,253,859 (GRCm39) missense unknown
X0018:Ciz1 UTSW 2 32,261,264 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCAAAGGCCTCTGGGAAGATAG -3'
(R):5'- CTAAGTGCTCTGGAGAGGTCTG -3'

Sequencing Primer
(F):5'- CCTCTGGGAAGATAGAGCTTTG -3'
(R):5'- GTGTCTGTGCCTGCCTCAG -3'
Posted On 2021-03-08