Incidental Mutation 'R7200:Ciz1'
ID |
560217 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ciz1
|
Ensembl Gene |
ENSMUSG00000039205 |
Gene Name |
CDKN1A interacting zinc finger protein 1 |
Synonyms |
0610038H21Rik, 2900056O04Rik |
MMRRC Submission |
045278-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.128)
|
Stock # |
R7200 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
32252724-32268311 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32254299 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 80
(L80P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048428
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048964]
[ENSMUST00000113331]
[ENSMUST00000113332]
[ENSMUST00000113334]
[ENSMUST00000113338]
[ENSMUST00000131152]
[ENSMUST00000132028]
[ENSMUST00000136079]
|
AlphaFold |
Q8VEH2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048964
AA Change: L80P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000048428 Gene: ENSMUSG00000039205 AA Change: L80P
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: L80P
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000108957 Gene: ENSMUSG00000039205 AA Change: L80P
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 |
probably damaging
Transcript: ENSMUST00000113332
AA Change: L80P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108958 Gene: ENSMUSG00000039205 AA Change: L80P
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 |
probably damaging
Transcript: ENSMUST00000113334
AA Change: L80P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108960 Gene: ENSMUSG00000039205 AA Change: L80P
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 damaging
Transcript: ENSMUST00000113338
AA Change: L80P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108964 Gene: ENSMUSG00000039205 AA Change: L80P
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: ENSMUST00000131152
|
SMART Domains |
Protein: ENSMUSP00000141211 Gene: ENSMUSG00000039205
Domain | Start | End | E-Value | Type |
coiled coil region
|
5 |
45 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000132028
AA Change: L80P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000120295 Gene: ENSMUSG00000039205 AA Change: L80P
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000136079
AA Change: L80P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000116812 Gene: ENSMUSG00000039205 AA Change: L80P
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139637
|
SMART Domains |
Protein: ENSMUSP00000122469 Gene: ENSMUSG00000039205
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
low complexity region
|
70 |
81 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700086D15Rik |
A |
G |
11: 65,043,836 (GRCm39) |
M75T |
unknown |
Het |
2700049A03Rik |
T |
G |
12: 71,187,680 (GRCm39) |
N105K |
probably damaging |
Het |
Acvr1c |
A |
T |
2: 58,205,867 (GRCm39) |
V31E |
probably damaging |
Het |
Adra1d |
T |
A |
2: 131,403,170 (GRCm39) |
T307S |
probably benign |
Het |
Akr1c14 |
T |
C |
13: 4,131,051 (GRCm39) |
Y248H |
probably benign |
Het |
Ankub1 |
T |
C |
3: 57,580,406 (GRCm39) |
T84A |
probably benign |
Het |
Asb3 |
C |
A |
11: 30,948,348 (GRCm39) |
S8* |
probably null |
Het |
AU041133 |
G |
A |
10: 81,986,935 (GRCm39) |
G196D |
possibly damaging |
Het |
B4galt7 |
T |
C |
13: 55,756,155 (GRCm39) |
C214R |
probably damaging |
Het |
Chd3 |
A |
G |
11: 69,254,921 (GRCm39) |
S140P |
possibly damaging |
Het |
Col6a4 |
G |
A |
9: 105,949,448 (GRCm39) |
P729L |
possibly damaging |
Het |
Cr2 |
A |
G |
1: 194,845,557 (GRCm39) |
C133R |
probably damaging |
Het |
Dmgdh |
T |
C |
13: 93,828,393 (GRCm39) |
L178P |
probably damaging |
Het |
Dock5 |
C |
A |
14: 68,009,151 (GRCm39) |
E1448* |
probably null |
Het |
Elavl1 |
A |
G |
8: 4,361,767 (GRCm39) |
S2P |
probably benign |
Het |
Flywch1 |
T |
C |
17: 23,980,033 (GRCm39) |
H247R |
possibly damaging |
Het |
Gabpb1 |
A |
T |
2: 126,481,222 (GRCm39) |
I309N |
possibly damaging |
Het |
Glrx3 |
T |
C |
7: 137,066,165 (GRCm39) |
F298L |
possibly damaging |
Het |
Gpc6 |
G |
A |
14: 118,202,268 (GRCm39) |
V493I |
probably benign |
Het |
H2-T13 |
A |
T |
17: 36,391,938 (GRCm39) |
I45N |
possibly damaging |
Het |
Hadha |
C |
T |
5: 30,350,315 (GRCm39) |
E78K |
probably benign |
Het |
Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
Ldlrad3 |
G |
T |
2: 101,943,903 (GRCm39) |
F56L |
probably damaging |
Het |
Ldlrad3 |
A |
G |
2: 101,943,905 (GRCm39) |
F56L |
probably damaging |
Het |
Mapk4 |
A |
T |
18: 74,063,990 (GRCm39) |
S411T |
possibly damaging |
Het |
Mcm9 |
A |
G |
10: 53,492,019 (GRCm39) |
M382T |
|
Het |
Muc21 |
TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT |
TCCTGAGGCAGTGCTGGAT |
17: 35,933,525 (GRCm39) |
|
probably benign |
Het |
Or2t6 |
A |
T |
14: 14,175,477 (GRCm38) |
C202S |
probably damaging |
Het |
Or5b104 |
T |
C |
19: 13,072,596 (GRCm39) |
T139A |
probably benign |
Het |
Pacs1 |
A |
C |
19: 5,206,441 (GRCm39) |
I248S |
possibly damaging |
Het |
Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
Plekhg1 |
T |
C |
10: 3,906,810 (GRCm39) |
S631P |
|
Het |
Rars2 |
A |
T |
4: 34,645,747 (GRCm39) |
K221N |
probably benign |
Het |
Retsat |
T |
C |
6: 72,583,002 (GRCm39) |
S388P |
possibly damaging |
Het |
Rft1 |
G |
A |
14: 30,404,814 (GRCm39) |
|
probably null |
Het |
Rgsl1 |
A |
G |
1: 153,660,945 (GRCm39) |
V345A |
probably benign |
Het |
Rnf38 |
A |
T |
4: 44,137,620 (GRCm39) |
S320R |
probably benign |
Het |
Sel1l3 |
T |
A |
5: 53,301,451 (GRCm39) |
Y722F |
probably benign |
Het |
Slc13a4 |
T |
C |
6: 35,264,285 (GRCm39) |
E194G |
possibly damaging |
Het |
Spata17 |
G |
A |
1: 186,844,700 (GRCm39) |
R300C |
probably benign |
Het |
Tacc1 |
G |
A |
8: 25,731,656 (GRCm39) |
|
probably benign |
Het |
Tc2n |
T |
G |
12: 101,655,314 (GRCm39) |
I214L |
probably damaging |
Het |
Tet2 |
T |
C |
3: 133,192,953 (GRCm39) |
S494G |
probably benign |
Het |
Tmco5b |
A |
T |
2: 113,121,722 (GRCm39) |
I179L |
probably damaging |
Het |
Triobp |
AGGGACAATCCCAGGGCCTCCTCTCCCAACAGAACTACTCAGCGGGACAA |
AGGGACAA |
15: 78,851,042 (GRCm39) |
|
probably benign |
Het |
Trpv1 |
A |
G |
11: 73,130,412 (GRCm39) |
T173A |
probably damaging |
Het |
Vmn2r56 |
C |
T |
7: 12,444,259 (GRCm39) |
G458R |
probably damaging |
Het |
Vmn2r81 |
T |
G |
10: 79,106,570 (GRCm39) |
|
probably null |
Het |
Wfdc15b |
T |
A |
2: 164,057,037 (GRCm39) |
E80D |
probably benign |
Het |
Wrn |
A |
T |
8: 33,812,376 (GRCm39) |
D423E |
probably benign |
Het |
Zfp775 |
T |
A |
6: 48,597,415 (GRCm39) |
C430S |
possibly damaging |
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 |
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 |
|
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'- CAGGGGCATCCTTGTTTGAG -3'
(R):5'- TTAGCAGAGTAGCCTGTGGACTTC -3'
Sequencing Primer
(F):5'- AATGTCATCAGTTTCTACCTTGGAGG -3'
(R):5'- AGAGTAGCCTGTGGACTTCATCTC -3'
|
Posted On |
2019-06-26 |