Incidental Mutation 'R6612:Ciz1'
ID 523637
Institutional Source Beutler Lab
Gene Symbol Ciz1
Ensembl Gene ENSMUSG00000039205
Gene Name CDKN1A interacting zinc finger protein 1
Synonyms 0610038H21Rik, 2900056O04Rik
MMRRC Submission 044735-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R6612 (G1)
Quality Score 189.009
Status Validated
Chromosome 2
Chromosomal Location 32252724-32268311 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32267323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 720 (S720T)
Ref Sequence ENSEMBL: ENSMUSP00000108964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048792] [ENSMUST00000048964] [ENSMUST00000113331] [ENSMUST00000113332] [ENSMUST00000113334] [ENSMUST00000113338] [ENSMUST00000125818] [ENSMUST00000146423]
AlphaFold Q8VEH2
Predicted Effect probably benign
Transcript: ENSMUST00000048792
SMART Domains Protein: ENSMUSP00000038970
Gene: ENSMUSG00000039195

DomainStartEndE-ValueType
Pfam:UPF0184 1 83 5.5e-46 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000048964
AA Change: S720T

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000048428
Gene: ENSMUSG00000039205
AA Change: S720T

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 possibly damaging
Transcript: ENSMUST00000113331
AA Change: S696T

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108957
Gene: ENSMUSG00000039205
AA Change: S696T

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 possibly damaging
Transcript: ENSMUST00000113332
AA Change: S666T

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108958
Gene: ENSMUSG00000039205
AA Change: S666T

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 possibly damaging
Transcript: ENSMUST00000113334
AA Change: S720T

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108960
Gene: ENSMUSG00000039205
AA Change: S720T

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 possibly damaging
Transcript: ENSMUST00000113338
AA Change: S720T

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108964
Gene: ENSMUSG00000039205
AA Change: S720T

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 possibly damaging
Transcript: ENSMUST00000125818
AA Change: S127T

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117937
Gene: ENSMUSG00000039205
AA Change: S127T

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: ENSMUST00000146423
SMART Domains Protein: ENSMUSP00000142021
Gene: ENSMUSG00000039195

DomainStartEndE-ValueType
Pfam:UPF0184 1 43 1.4e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137220
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134141
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192758
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145957
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149184
Meta Mutation Damage Score 0.0719 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.4%
Validation Efficiency 95% (59/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik A C 1: 159,902,804 (GRCm39) N25H probably damaging Het
Akr1c14 A T 13: 4,115,331 (GRCm39) S87C probably benign Het
Arhgef37 T C 18: 61,627,952 (GRCm39) T664A probably benign Het
Arsi A G 18: 61,045,528 (GRCm39) T73A probably benign Het
Cacnb2 A T 2: 14,979,960 (GRCm39) T274S probably benign Het
Cd244a A G 1: 171,401,672 (GRCm39) T133A probably benign Het
Cep20 TTGTG TTG 16: 14,118,009 (GRCm39) probably null Het
Cxcr6 T A 9: 123,639,785 (GRCm39) I262N probably damaging Het
Cyp2a4 T A 7: 26,008,072 (GRCm39) F160I probably benign Het
Esrra T C 19: 6,889,220 (GRCm39) T390A probably benign Het
Gm17079 T A 14: 51,931,833 (GRCm39) Q91L possibly damaging Het
Gm17079 C A 14: 51,931,832 (GRCm39) Q91H probably damaging Het
Got1 A G 19: 43,493,242 (GRCm39) S256P probably damaging Het
Gria4 C T 9: 4,472,206 (GRCm39) V428I possibly damaging Het
Grin2b A G 6: 135,717,996 (GRCm39) Y699H probably damaging Het
Hipk2 T C 6: 38,795,808 (GRCm39) I154V probably benign Het
Hkdc1 T C 10: 62,231,220 (GRCm39) E628G possibly damaging Het
Hmcn1 C G 1: 150,470,869 (GRCm39) probably null Het
Hspbap1 T G 16: 35,621,961 (GRCm39) L102W probably damaging Het
Iqcb1 G A 16: 36,692,023 (GRCm39) probably benign Het
Itga7 A G 10: 128,784,862 (GRCm39) Y763C possibly damaging Het
Itgb4 A T 11: 115,874,897 (GRCm39) D418V probably benign Het
Jakmip2 T C 18: 43,690,432 (GRCm39) D631G probably damaging Het
Kcnc2 G C 10: 112,107,761 (GRCm39) G51R probably benign Het
Kcnu1 A G 8: 26,408,344 (GRCm39) I52V probably benign Het
Kdm5a T C 6: 120,407,189 (GRCm39) I1468T probably damaging Het
Kmt2d A G 15: 98,743,739 (GRCm39) probably benign Het
Mab21l3 A G 3: 101,725,961 (GRCm39) V345A possibly damaging Het
Marchf10 A T 11: 105,287,904 (GRCm39) S133T probably damaging Het
Mccc1 T C 3: 36,048,079 (GRCm39) S115G probably benign Het
Mchr1 G A 15: 81,122,071 (GRCm39) V274M probably damaging Het
Mrgpra3 T A 7: 47,239,783 (GRCm39) I48F probably benign Het
Myo9a T A 9: 59,734,479 (GRCm39) F687Y probably damaging Het
Nfrkb T A 9: 31,308,302 (GRCm39) L216* probably null Het
Nrxn3 A T 12: 89,780,102 (GRCm39) probably benign Het
Olig2 T A 16: 91,023,769 (GRCm39) M161K probably damaging Het
Or11h7 A T 14: 50,891,090 (GRCm39) Y132F probably damaging Het
Pcdh15 T A 10: 74,021,210 (GRCm39) N141K probably damaging Het
Pcdha4 T C 18: 37,088,031 (GRCm39) V738A probably benign Het
Pdgfra T C 5: 75,328,503 (GRCm39) S212P probably benign Het
Plk3 G A 4: 116,989,934 (GRCm39) Q194* probably null Het
Ppp1r36 T C 12: 76,484,378 (GRCm39) I216T possibly damaging Het
Ptprz1 T A 6: 23,052,081 (GRCm39) N2303K probably damaging Het
Rab25 G A 3: 88,450,710 (GRCm39) T117M probably damaging Het
Relch T A 1: 105,619,732 (GRCm39) D320E possibly damaging Het
Slc25a47 T C 12: 108,821,904 (GRCm39) V231A probably benign Het
Slx4 G A 16: 3,803,140 (GRCm39) H1225Y probably damaging Het
Snx13 C T 12: 35,156,758 (GRCm39) A470V probably benign Het
Spa17 A G 9: 37,517,090 (GRCm39) F101S probably benign Het
Ssh1 C T 5: 114,096,791 (GRCm39) A217T probably benign Het
Stimate T A 14: 30,593,521 (GRCm39) probably null Het
Synm G C 7: 67,383,264 (GRCm39) T1466S probably damaging Het
Tbc1d19 A G 5: 53,967,187 (GRCm39) E29G possibly damaging Het
Teddm2 T A 1: 153,726,191 (GRCm39) T175S probably benign Het
Tet2 T A 3: 133,193,096 (GRCm39) H446L possibly damaging Het
Tpm3-rs7 G T 14: 113,552,268 (GRCm39) R54L probably benign Het
Ttc5 T A 14: 51,022,926 (GRCm39) probably null Het
Tyk2 G T 9: 21,019,312 (GRCm39) Q1014K probably benign Het
Ush2a T C 1: 188,643,594 (GRCm39) S4319P possibly damaging Het
Zbtb10 C A 3: 9,317,125 (GRCm39) H312Q possibly damaging Het
Zfp462 A T 4: 55,012,324 (GRCm39) probably null 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
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
R8765:Ciz1 UTSW 2 32,260,895 (GRCm39) missense probably damaging 0.99
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'- CCACAGAGCATATGTTGGAAGGAC -3'
(R):5'- AGACATAGCCCATCACTGGC -3'

Sequencing Primer
(F):5'- ACGTATGGGAGCCAGGATCTTC -3'
(R):5'- AGGAAATCCTCACCTGGGGAC -3'
Posted On 2018-06-22