Incidental Mutation 'R5805:Ciz1'
ID 448434
Institutional Source Beutler Lab
Gene Symbol Ciz1
Ensembl Gene ENSMUSG00000039205
Gene Name CDKN1A interacting zinc finger protein 1
Synonyms 0610038H21Rik, 2900056O04Rik
MMRRC Submission 043212-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R5805 (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 C at 32257408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 151 (F151S)
Ref Sequence ENSEMBL: ENSMUSP00000116812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048964] [ENSMUST00000113331] [ENSMUST00000113332] [ENSMUST00000113334] [ENSMUST00000113338] [ENSMUST00000132028] [ENSMUST00000136079] [ENSMUST00000131152]
AlphaFold Q8VEH2
Predicted Effect probably damaging
Transcript: ENSMUST00000048964
AA Change: F151S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048428
Gene: ENSMUSG00000039205
AA Change: F151S

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: F127S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108957
Gene: ENSMUSG00000039205
AA Change: F127S

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: F151S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108958
Gene: ENSMUSG00000039205
AA Change: F151S

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: F151S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108960
Gene: ENSMUSG00000039205
AA Change: F151S

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: F151S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108964
Gene: ENSMUSG00000039205
AA Change: F151S

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 noncoding transcript
Transcript: ENSMUST00000125769
Predicted Effect probably damaging
Transcript: ENSMUST00000132028
AA Change: F151S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120295
Gene: ENSMUSG00000039205
AA Change: F151S

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 damaging
Transcript: ENSMUST00000136079
AA Change: F151S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116812
Gene: ENSMUSG00000039205
AA Change: F151S

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: ENSMUST00000132290
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136325
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145957
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192055
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137220
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: 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: ENSMUST00000151806
SMART Domains Protein: ENSMUSP00000119429
Gene: ENSMUSG00000039205

DomainStartEndE-ValueType
low complexity region 70 81 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192758
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 C T 11: 110,170,216 (GRCm39) C1293Y probably benign Het
Adam8 T A 7: 139,565,794 (GRCm39) D611V probably damaging Het
Arhgap33 T C 7: 30,225,839 (GRCm39) T576A probably benign Het
Atf7 A T 15: 102,466,022 (GRCm39) probably null Het
Baiap3 T A 17: 25,466,489 (GRCm39) T464S probably benign Het
Ccdc40 T C 11: 119,136,906 (GRCm39) probably null Het
Celf2 T C 2: 6,558,598 (GRCm39) E430G probably damaging Het
Chia1 A G 3: 106,035,792 (GRCm39) T211A probably damaging Het
Dnm2 A G 9: 21,378,965 (GRCm39) T175A probably damaging Het
Doc2b A G 11: 75,663,364 (GRCm39) S363P probably damaging Het
Garem1 C T 18: 21,281,492 (GRCm39) R288H probably benign Het
Gpr132 G A 12: 112,816,416 (GRCm39) R137C probably damaging Het
Helz2 C A 2: 180,882,301 (GRCm39) C164F probably damaging Het
Itfg1 A T 8: 86,493,601 (GRCm39) S293T probably benign Het
Kcnn2 T A 18: 45,816,198 (GRCm39) D336E probably damaging Het
Kifc2 C T 15: 76,546,353 (GRCm39) A245V probably benign Het
Krt18 T A 15: 101,939,735 (GRCm39) I311N probably benign Het
Lypla1 T C 1: 4,900,517 (GRCm39) M7T possibly damaging Het
Mef2a T C 7: 66,901,416 (GRCm39) M285V possibly damaging Het
Micu1 A C 10: 59,663,128 (GRCm39) K353Q possibly damaging Het
Mpv17l A G 16: 13,760,013 (GRCm39) probably benign Het
Ntrk1 G A 3: 87,687,479 (GRCm39) R652W probably damaging Het
Or13a28 T A 7: 140,218,384 (GRCm39) F257I probably benign Het
Or13c7 T C 4: 43,855,152 (GRCm39) I281T probably benign Het
Or4c107 G A 2: 88,788,985 (GRCm39) M58I possibly damaging Het
Pcdh15 C A 10: 74,066,091 (GRCm39) T252K probably damaging Het
Pcsk5 T C 19: 17,434,193 (GRCm39) M1392V probably benign Het
Phf20 T A 2: 156,149,214 (GRCm39) V964E probably damaging Het
Pira13 G A 7: 3,825,622 (GRCm39) L416F probably benign Het
Plcg2 T C 8: 118,325,234 (GRCm39) probably null Het
Rnf10 A T 5: 115,382,127 (GRCm39) C693S probably benign Het
Rnf19b A G 4: 128,952,617 (GRCm39) Y185C probably damaging Het
Ros1 G T 10: 51,999,385 (GRCm39) D1167E probably damaging Het
Sidt2 G A 9: 45,853,497 (GRCm39) S701L probably damaging Het
Slc66a2 C T 18: 80,306,658 (GRCm39) P76L probably damaging Het
Spag1 T C 15: 36,200,430 (GRCm39) I345T probably damaging Het
Srcap T A 7: 127,141,211 (GRCm39) S1603T possibly damaging Het
Stag1 T A 9: 100,678,831 (GRCm39) Y251N probably damaging Het
Stxbp5 T C 10: 9,776,330 (GRCm39) N33S probably benign Het
Tnrc6a T C 7: 122,769,299 (GRCm39) L363P probably damaging Het
U2surp C T 9: 95,361,357 (GRCm39) R591H possibly damaging Het
Usf3 A G 16: 44,041,109 (GRCm39) N1863S possibly damaging Het
Vmn2r15 T C 5: 109,434,806 (GRCm39) I633V possibly damaging Het
Zfp979 T C 4: 147,698,067 (GRCm39) D214G 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
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'- AGTGGATCTTACCTTGGCTTTAC -3'
(R):5'- GCTGAGCTGTTCCACTCAAAG -3'

Sequencing Primer
(F):5'- ACCTCTACTTCCCTGGATAAGAGG -3'
(R):5'- AAGCACTACTCACCTTGCGATTG -3'
Posted On 2016-12-15