Incidental Mutation 'R5429:Ciz1'
ID 427047
Institutional Source Beutler Lab
Gene Symbol Ciz1
Ensembl Gene ENSMUSG00000039205
Gene Name CDKN1A interacting zinc finger protein 1
Synonyms 0610038H21Rik, 2900056O04Rik
MMRRC Submission 042995-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R5429 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 32252724-32268311 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32266055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 609 (I609K)
Ref Sequence ENSEMBL: ENSMUSP00000108957 (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: I633K

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000048428
Gene: ENSMUSG00000039205
AA Change: I633K

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: I609K

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108957
Gene: ENSMUSG00000039205
AA Change: I609K

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: I579K

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108958
Gene: ENSMUSG00000039205
AA Change: I579K

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: I633K

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108960
Gene: ENSMUSG00000039205
AA Change: I633K

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: I633K

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108964
Gene: ENSMUSG00000039205
AA Change: I633K

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: ENSMUST00000125818
AA Change: I40K

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000117937
Gene: ENSMUSG00000039205
AA Change: I40K

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 noncoding transcript
Transcript: ENSMUST00000134141
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149184
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192758
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132290
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145957
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137220
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: ENSMUST00000151806
SMART Domains Protein: ENSMUSP00000119429
Gene: ENSMUSG00000039205

DomainStartEndE-ValueType
low complexity region 70 81 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146423
SMART Domains Protein: ENSMUSP00000142021
Gene: ENSMUSG00000039195

DomainStartEndE-ValueType
Pfam:UPF0184 1 43 1.4e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139637
SMART Domains Protein: ENSMUSP00000122469
Gene: ENSMUSG00000039205

DomainStartEndE-ValueType
low complexity region 85 96 N/A INTRINSIC
low complexity region 201 230 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 T G 7: 75,252,652 (GRCm39) S261A possibly damaging Het
Ankrd34a G A 3: 96,504,837 (GRCm39) G14R probably damaging Het
Auts2 G A 5: 131,501,173 (GRCm39) T289M probably damaging Het
Btaf1 G A 19: 36,972,257 (GRCm39) V1331I possibly damaging Het
Clca3b C T 3: 144,552,220 (GRCm39) V154I probably damaging Het
Csde1 A G 3: 102,960,157 (GRCm39) T564A possibly damaging Het
Csrnp2 A G 15: 100,379,935 (GRCm39) V452A probably benign Het
Ctnnd1 C T 2: 84,447,133 (GRCm39) V371M probably damaging Het
Dock6 T C 9: 21,744,177 (GRCm39) D677G probably damaging Het
Filip1l A T 16: 57,390,618 (GRCm39) E402V probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Ghr G A 15: 3,418,157 (GRCm39) Q37* probably null Het
Gm10770 C T 2: 150,021,343 (GRCm39) R58H probably benign Het
Gm12789 T C 4: 101,847,158 (GRCm39) Y148H possibly damaging Het
Herc4 T A 10: 63,110,792 (GRCm39) N234K probably benign Het
Itih3 A G 14: 30,645,478 (GRCm39) V10A probably benign Het
Kat14 T A 2: 144,235,243 (GRCm39) D234E probably benign Het
Kif13a A G 13: 46,926,245 (GRCm39) probably null Het
Kif2b A G 11: 91,468,055 (GRCm39) V76A probably benign Het
Mboat1 A G 13: 30,403,650 (GRCm39) T150A probably benign Het
Mfsd1 T A 3: 67,507,293 (GRCm39) L398H probably damaging Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nfx1 T C 4: 41,004,343 (GRCm39) C705R probably damaging Het
Or13a27 A G 7: 139,925,186 (GRCm39) F239L possibly damaging Het
Or2ak5 T A 11: 58,611,350 (GRCm39) N175Y probably damaging Het
Pcdh10 T C 3: 45,338,635 (GRCm39) S931P probably benign Het
Pdpk1 T C 17: 24,310,534 (GRCm39) E205G probably benign Het
Ppp2r2a A T 14: 67,261,205 (GRCm39) F172I probably damaging Het
Ppp2r5e T A 12: 75,500,537 (GRCm39) D452V probably damaging Het
Rims2 A T 15: 39,208,751 (GRCm39) T185S probably damaging Het
Rpusd4 T C 9: 35,183,898 (GRCm39) V209A probably benign Het
Safb T C 17: 56,895,822 (GRCm39) V20A probably benign Het
Scaf8 C A 17: 3,247,385 (GRCm39) P903T probably benign Het
Slc30a7 A G 3: 115,800,574 (GRCm39) S31P possibly damaging Het
Slc9b1 T C 3: 135,079,024 (GRCm39) probably null Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Tbc1d32 T C 10: 55,904,089 (GRCm39) D1226G probably damaging Het
Tlnrd1 G T 7: 83,531,522 (GRCm39) T303N probably damaging Het
Tmc1 G T 19: 20,766,986 (GRCm39) N738K possibly damaging Het
Tmem41a A G 16: 21,753,606 (GRCm39) I255T probably benign Het
Trim7 G A 11: 48,740,782 (GRCm39) C293Y probably damaging Het
Trpc6 C T 9: 8,634,075 (GRCm39) Q385* probably null Het
Ttc39b A G 4: 83,162,190 (GRCm39) I330T possibly damaging Het
Vil1 C T 1: 74,471,490 (GRCm39) T757I probably benign Het
Zfp462 T C 4: 55,060,077 (GRCm39) V1201A probably damaging Het
Zfp473 T A 7: 44,382,272 (GRCm39) E686V possibly damaging Het
Zfp998 G A 13: 66,579,887 (GRCm39) P199S probably benign 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
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
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'- GTTTTGCATGTCCCAGTGCAG -3'
(R):5'- TCAAGTGTCTTCAGCTGCC -3'

Sequencing Primer
(F):5'- CCAGTGCAGGGGCGGAG -3'
(R):5'- TCTTCAGCTGCCCGAGGAATG -3'
Posted On 2016-09-01