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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |