Incidental Mutation 'R5621:Ciz1'
ID 441547
Institutional Source Beutler Lab
Gene Symbol Ciz1
Ensembl Gene ENSMUSG00000039205
Gene Name CDKN1A interacting zinc finger protein 1
Synonyms 0610038H21Rik, 2900056O04Rik
MMRRC Submission 043279-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R5621 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 32252724-32268311 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 32261753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 455 (A455E)
Ref Sequence ENSEMBL: ENSMUSP00000108957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048964] [ENSMUST00000113331] [ENSMUST00000113332] [ENSMUST00000113334] [ENSMUST00000113338] [ENSMUST00000136079] [ENSMUST00000125818] [ENSMUST00000131152] [ENSMUST00000132028]
AlphaFold Q8VEH2
Predicted Effect probably benign
Transcript: ENSMUST00000048964
AA Change: A479E

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000048428
Gene: ENSMUSG00000039205
AA Change: A479E

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: A455E

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108957
Gene: ENSMUSG00000039205
AA Change: A455E

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: A425E

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108958
Gene: ENSMUSG00000039205
AA Change: A425E

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 benign
Transcript: ENSMUST00000113334
AA Change: A479E

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108960
Gene: ENSMUSG00000039205
AA Change: A479E

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: ENSMUST00000113338
AA Change: A479E

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108964
Gene: ENSMUSG00000039205
AA Change: A479E

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 unknown
Transcript: ENSMUST00000125482
AA Change: A157E
SMART Domains Protein: ENSMUSP00000120019
Gene: ENSMUSG00000039205
AA Change: A157E

DomainStartEndE-ValueType
ZnF_C2H2 216 240 1.99e0 SMART
Predicted Effect unknown
Transcript: ENSMUST00000151806
AA Change: A254E
SMART Domains Protein: ENSMUSP00000119429
Gene: ENSMUSG00000039205
AA Change: A254E

DomainStartEndE-ValueType
low complexity region 70 81 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149184
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137220
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145957
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134141
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125769
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132290
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 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: 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
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 noncoding transcript
Transcript: ENSMUST00000192758
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192055
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (63/64)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T G 17: 85,003,421 (GRCm39) L417R probably damaging Het
Adrm1b G A 3: 92,335,664 (GRCm39) A346V probably damaging Het
Als2 A G 1: 59,231,049 (GRCm39) V854A probably benign Het
Bbox1 C T 2: 110,122,868 (GRCm39) W140* probably null Het
Ccdc28a A T 10: 18,092,016 (GRCm39) N110K probably benign Het
Chrna6 C T 8: 27,897,068 (GRCm39) E270K probably damaging Het
Cilp A G 9: 65,186,073 (GRCm39) K723E possibly damaging Het
Csmd3 T G 15: 48,177,374 (GRCm39) H388P possibly damaging Het
Dnajc8 A G 4: 132,280,563 (GRCm39) probably benign Het
Dnase1 G T 16: 3,856,982 (GRCm39) C164F probably benign Het
Dync2h1 A T 9: 7,120,909 (GRCm39) I2126K possibly damaging Het
Epha4 G T 1: 77,491,686 (GRCm39) probably benign Het
Fer1l6 T C 15: 58,430,175 (GRCm39) C201R probably damaging Het
Fgf8 T C 19: 45,730,821 (GRCm39) Y68C probably benign Het
Gabrb1 A T 5: 72,266,071 (GRCm39) I243F probably damaging Het
Gpam A C 19: 55,067,692 (GRCm39) S484A probably damaging Het
Hectd2 T A 19: 36,596,151 (GRCm39) N745K probably damaging Het
Hspa13 T C 16: 75,563,651 (GRCm39) probably benign Het
Ints2 A G 11: 86,133,773 (GRCm39) F426L probably benign Het
Ism1 A G 2: 139,520,641 (GRCm39) T18A probably damaging Het
Itih2 T A 2: 10,107,616 (GRCm39) Q650L probably benign Het
Jmjd4 T C 11: 59,341,219 (GRCm39) F50S probably damaging Het
Kif5b T C 18: 6,226,883 (GRCm39) N125S probably benign Het
Lonp1 G C 17: 56,927,263 (GRCm39) A330G probably benign Het
Lrfn1 A G 7: 28,166,261 (GRCm39) I552V probably damaging Het
Mcph1 A G 8: 18,682,186 (GRCm39) E441G probably damaging Het
Mdn1 T A 4: 32,716,371 (GRCm39) H2144Q possibly damaging Het
Mms19 A G 19: 41,954,752 (GRCm39) S56P probably benign Het
Mrgprb3 A G 7: 48,293,116 (GRCm39) I145T probably benign Het
Myh11 G A 16: 14,062,719 (GRCm39) T287I probably damaging Het
Npas2 A G 1: 39,398,794 (GRCm39) T730A probably benign Het
Or4c108 T C 2: 88,803,810 (GRCm39) I142V probably benign Het
Or4c15b G A 2: 89,112,697 (GRCm39) P281L probably damaging Het
Pcdhgb1 A G 18: 37,815,222 (GRCm39) E571G possibly damaging Het
Pcx T A 19: 4,669,195 (GRCm39) V731E possibly damaging Het
Pgm2 T A 5: 64,269,381 (GRCm39) Y489* probably null Het
Rrp12 T C 19: 41,868,856 (GRCm39) T541A probably benign Het
Ryr3 C T 2: 112,731,329 (GRCm39) W660* probably null Het
Sertad2 T A 11: 20,598,061 (GRCm39) F86I possibly damaging Het
Slc11a1 G A 1: 74,420,065 (GRCm39) G191D probably damaging Het
Slc22a22 G T 15: 57,122,547 (GRCm39) F143L probably benign Het
Slc22a28 C T 19: 8,048,376 (GRCm39) V424I probably benign Het
Slc7a11 T G 3: 50,393,324 (GRCm39) K106N probably damaging Het
Smgc A T 15: 91,728,623 (GRCm39) D121V probably damaging Het
Sphk1 C T 11: 116,427,192 (GRCm39) probably benign Het
Spock3 A T 8: 63,597,040 (GRCm39) T118S probably benign Het
Stk17b G T 1: 53,810,943 (GRCm39) S54* probably null Het
Sycp2 A G 2: 178,023,711 (GRCm39) I435T probably benign Het
Tm2d3 G T 7: 65,351,366 (GRCm39) D207Y probably damaging Het
Top2b A T 14: 16,387,280 (GRCm38) N123Y probably damaging Het
Unc80 A G 1: 66,677,202 (GRCm39) T2044A possibly damaging Het
Usp6nl A G 2: 6,445,243 (GRCm39) S407G probably benign Het
Vmn1r195 G A 13: 22,462,559 (GRCm39) V10I probably benign Het
Zfp292 C T 4: 34,811,703 (GRCm39) R447H 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
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'- GAGCCAGCTCTTGTATCCAGATC -3'
(R):5'- CCCACAAGGAGGGTTTTACAAAG -3'

Sequencing Primer
(F):5'- GATCTATCTGGACCCCAAATGGTAG -3'
(R):5'- GGTACTGAAATGACATCGTTAGG -3'
Posted On 2016-11-08