Incidental Mutation 'R3161:Ciz1'
ID |
258147 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ciz1
|
Ensembl Gene |
ENSMUSG00000039205 |
Gene Name |
CDKN1A interacting zinc finger protein 1 |
Synonyms |
0610038H21Rik, 2900056O04Rik |
MMRRC Submission |
040612-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.128)
|
Stock # |
R3161 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
32252724-32268311 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32260075 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 207
(D207G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116812
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048964]
[ENSMUST00000113331]
[ENSMUST00000113332]
[ENSMUST00000113334]
[ENSMUST00000113338]
[ENSMUST00000136079]
[ENSMUST00000132028]
[ENSMUST00000131152]
|
AlphaFold |
Q8VEH2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048964
AA Change: D207G
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000048428 Gene: ENSMUSG00000039205 AA Change: D207G
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: ENSMUST00000113331
AA Change: D183G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000108957 Gene: ENSMUSG00000039205 AA Change: D183G
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 benign
Transcript: ENSMUST00000113332
AA Change: D202G
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000108958 Gene: ENSMUSG00000039205 AA Change: D202G
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 benign
Transcript: ENSMUST00000113334
AA Change: D207G
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000108960 Gene: ENSMUSG00000039205 AA Change: D207G
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: ENSMUST00000113338
AA Change: D207G
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000108964 Gene: ENSMUSG00000039205 AA Change: D207G
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 |
noncoding transcript
Transcript: ENSMUST00000125769
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132290
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136079
AA Change: D207G
PolyPhen 2
Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000116812 Gene: ENSMUSG00000039205 AA Change: D207G
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 |
noncoding transcript
Transcript: ENSMUST00000192758
|
Predicted Effect |
unknown
Transcript: ENSMUST00000139637
AA Change: D46G
|
SMART Domains |
Protein: ENSMUSP00000122469 Gene: ENSMUSG00000039205 AA Change: D46G
Domain | Start | End | E-Value | Type |
low complexity region
|
85 |
96 |
N/A |
INTRINSIC |
low complexity region
|
201 |
230 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000151806
AA Change: D31G
|
SMART Domains |
Protein: ENSMUSP00000119429 Gene: ENSMUSG00000039205 AA Change: D31G
Domain | Start | End | E-Value | Type |
low complexity region
|
70 |
81 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134141
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192055
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137220
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136325
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145957
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132028
|
SMART Domains |
Protein: ENSMUSP00000120295 Gene: ENSMUSG00000039205
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: ENSMUST00000131152
|
SMART Domains |
Protein: ENSMUSP00000141211 Gene: ENSMUSG00000039205
Domain | Start | End | E-Value | Type |
coiled coil region
|
5 |
45 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0881 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
98% (54/55) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
T |
C |
5: 64,053,833 (GRCm39) |
|
probably benign |
Het |
1700066M21Rik |
T |
A |
1: 57,422,234 (GRCm39) |
N203K |
probably benign |
Het |
Adcy9 |
A |
G |
16: 4,129,452 (GRCm39) |
L715P |
probably damaging |
Het |
Adgrl2 |
G |
A |
3: 148,523,187 (GRCm39) |
L1354F |
probably damaging |
Het |
Amer2 |
A |
G |
14: 60,616,000 (GRCm39) |
D65G |
probably damaging |
Het |
Aox1 |
G |
T |
1: 58,343,597 (GRCm39) |
V427L |
possibly damaging |
Het |
Atad2b |
C |
A |
12: 4,989,689 (GRCm39) |
N133K |
possibly damaging |
Het |
Bptf |
A |
T |
11: 106,965,302 (GRCm39) |
D1182E |
probably damaging |
Het |
Camk1g |
T |
C |
1: 193,042,115 (GRCm39) |
T45A |
possibly damaging |
Het |
Caps2 |
C |
A |
10: 112,018,391 (GRCm39) |
Y180* |
probably null |
Het |
Cfap54 |
T |
A |
10: 92,881,140 (GRCm39) |
K349N |
probably damaging |
Het |
Chct1 |
A |
G |
11: 85,064,110 (GRCm39) |
S84G |
probably damaging |
Het |
Copa |
T |
A |
1: 171,918,800 (GRCm39) |
C127S |
probably damaging |
Het |
Crabp2 |
A |
T |
3: 87,859,484 (GRCm39) |
K45* |
probably null |
Het |
Daam1 |
C |
A |
12: 71,993,872 (GRCm39) |
T425K |
unknown |
Het |
Dapk2 |
T |
G |
9: 66,161,893 (GRCm39) |
V267G |
probably damaging |
Het |
Disp1 |
T |
C |
1: 182,868,806 (GRCm39) |
K1205E |
probably benign |
Het |
Dlg4 |
G |
C |
11: 69,908,051 (GRCm39) |
R4T |
probably damaging |
Het |
Fbf1 |
A |
G |
11: 116,039,046 (GRCm39) |
I743T |
probably damaging |
Het |
Fen1 |
A |
G |
19: 10,177,655 (GRCm39) |
L263P |
probably damaging |
Het |
G6pc2 |
A |
G |
2: 69,050,456 (GRCm39) |
N27S |
probably damaging |
Het |
Garnl3 |
A |
T |
2: 32,924,723 (GRCm39) |
N246K |
probably damaging |
Het |
Gm7337 |
A |
C |
5: 87,999,416 (GRCm39) |
|
noncoding transcript |
Het |
Gpr152 |
A |
G |
19: 4,192,713 (GRCm39) |
T85A |
probably benign |
Het |
Hnrnpu |
T |
C |
1: 178,158,690 (GRCm39) |
|
probably benign |
Het |
Ighv1-81 |
C |
G |
12: 115,883,949 (GRCm39) |
E101Q |
probably benign |
Het |
Ipo9 |
T |
C |
1: 135,337,214 (GRCm39) |
T174A |
probably benign |
Het |
Myo9a |
C |
T |
9: 59,739,598 (GRCm39) |
|
probably benign |
Het |
Nup155 |
G |
T |
15: 8,177,867 (GRCm39) |
R1083S |
possibly damaging |
Het |
Or11g24 |
T |
A |
14: 50,662,488 (GRCm39) |
C171S |
probably damaging |
Het |
Or5an1c |
T |
C |
19: 12,218,860 (GRCm39) |
H55R |
probably benign |
Het |
Or6d13 |
C |
T |
6: 116,517,807 (GRCm39) |
A131V |
probably damaging |
Het |
Or7a35 |
C |
A |
10: 78,853,438 (GRCm39) |
T94N |
probably benign |
Het |
Phyh |
T |
A |
2: 4,942,482 (GRCm39) |
|
probably benign |
Het |
Pkp4 |
G |
T |
2: 59,138,449 (GRCm39) |
R233M |
probably damaging |
Het |
Plcb1 |
A |
T |
2: 135,177,402 (GRCm39) |
Q578L |
probably benign |
Het |
Ppil3 |
A |
T |
1: 58,473,573 (GRCm39) |
N92K |
probably benign |
Het |
Prokr1 |
C |
T |
6: 87,565,413 (GRCm39) |
R144H |
probably damaging |
Het |
Psap |
T |
C |
10: 60,113,575 (GRCm39) |
L4P |
possibly damaging |
Het |
Rai14 |
T |
C |
15: 10,633,250 (GRCm39) |
T47A |
possibly damaging |
Het |
Rps2 |
G |
T |
17: 24,939,952 (GRCm39) |
A129S |
probably benign |
Het |
Sult2a4 |
T |
C |
7: 13,723,396 (GRCm39) |
T40A |
probably benign |
Het |
Tacr2 |
A |
G |
10: 62,101,024 (GRCm39) |
D378G |
probably benign |
Het |
Topaz1 |
T |
C |
9: 122,578,446 (GRCm39) |
I452T |
probably benign |
Het |
Ttn |
A |
G |
2: 76,663,581 (GRCm39) |
|
probably benign |
Het |
Vmn2r115 |
T |
A |
17: 23,575,998 (GRCm39) |
M532K |
possibly damaging |
Het |
Vmn2r117 |
A |
G |
17: 23,679,352 (GRCm39) |
L624P |
probably damaging |
Het |
Vstm5 |
T |
G |
9: 15,168,594 (GRCm39) |
S53A |
probably benign |
Het |
Wipf1 |
C |
T |
2: 73,265,293 (GRCm39) |
E437K |
probably damaging |
Het |
Wls |
G |
T |
3: 159,603,073 (GRCm39) |
C162F |
probably damaging |
Het |
Yeats2 |
T |
C |
16: 20,012,395 (GRCm39) |
V531A |
probably damaging |
Het |
Zfp868 |
A |
G |
8: 70,064,736 (GRCm39) |
S200P |
probably benign |
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 |
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 |
|
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'- GCCAGAGGGTTACAGCATTAC -3'
(R):5'- AGCATGCTATCTGGACCGAC -3'
Sequencing Primer
(F):5'- TTTAATCCCAGCACTCGGGAG -3'
(R):5'- GCTATCTGGACCGACTAGTGAATC -3'
|
Posted On |
2015-01-23 |