Incidental Mutation 'R4386:Ciz1'
ID |
326208 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ciz1
|
Ensembl Gene |
ENSMUSG00000039205 |
Gene Name |
CDKN1A interacting zinc finger protein 1 |
Synonyms |
0610038H21Rik, 2900056O04Rik |
MMRRC Submission |
041680-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.136)
|
Stock # |
R4386 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
32252724-32268311 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 32260111 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 219
(T219M)
|
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 |
possibly damaging
Transcript: ENSMUST00000048964
AA Change: T219M
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000048428 Gene: ENSMUSG00000039205 AA Change: T219M
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: T195M
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000108957 Gene: ENSMUSG00000039205 AA Change: T195M
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: T214M
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000108958 Gene: ENSMUSG00000039205 AA Change: T214M
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: T219M
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000108960 Gene: ENSMUSG00000039205 AA Change: T219M
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: T219M
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000108964 Gene: ENSMUSG00000039205 AA Change: T219M
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 |
possibly damaging
Transcript: ENSMUST00000136079
AA Change: T219M
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000116812 Gene: ENSMUSG00000039205 AA Change: T219M
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: ENSMUST00000151806
AA Change: T43M
|
SMART Domains |
Protein: ENSMUSP00000119429 Gene: ENSMUSG00000039205 AA Change: T43M
Domain | Start | End | E-Value | Type |
low complexity region
|
70 |
81 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000139637
AA Change: T58M
|
SMART Domains |
Protein: ENSMUSP00000122469 Gene: ENSMUSG00000039205 AA Change: T58M
Domain | Start | End | E-Value | Type |
low complexity region
|
85 |
96 |
N/A |
INTRINSIC |
low complexity region
|
201 |
230 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134141
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137220
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136325
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145957
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192055
|
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (48/48) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
T |
5: 114,379,982 (GRCm39) |
|
probably null |
Het |
Acsm3 |
G |
T |
7: 119,373,094 (GRCm39) |
W199L |
probably damaging |
Het |
Arap1 |
T |
A |
7: 101,034,778 (GRCm39) |
D236E |
probably benign |
Het |
Arhgap1 |
T |
C |
2: 91,498,582 (GRCm39) |
Y160H |
probably damaging |
Het |
Arid1b |
A |
G |
17: 5,045,247 (GRCm39) |
|
probably benign |
Het |
Cdc25a |
A |
G |
9: 109,718,801 (GRCm39) |
E334G |
probably damaging |
Het |
Cluap1 |
A |
C |
16: 3,751,586 (GRCm39) |
D315A |
possibly damaging |
Het |
Cps1 |
T |
C |
1: 67,210,154 (GRCm39) |
|
probably null |
Het |
Cul2 |
T |
C |
18: 3,434,856 (GRCm39) |
S668P |
probably damaging |
Het |
Fah |
T |
A |
7: 84,248,344 (GRCm39) |
T125S |
probably damaging |
Het |
Fam221a |
G |
A |
6: 49,355,366 (GRCm39) |
C156Y |
probably damaging |
Het |
Gm6158 |
G |
T |
14: 24,120,362 (GRCm39) |
|
noncoding transcript |
Het |
Hbq1b |
T |
A |
11: 32,237,295 (GRCm39) |
V63E |
probably damaging |
Het |
Ighv6-5 |
G |
A |
12: 114,380,337 (GRCm39) |
T79I |
possibly damaging |
Het |
Kif12 |
G |
A |
4: 63,089,455 (GRCm39) |
T99M |
probably damaging |
Het |
Kif1a |
T |
A |
1: 92,996,272 (GRCm39) |
K298M |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lama1 |
A |
G |
17: 68,080,707 (GRCm39) |
Q1245R |
probably benign |
Het |
Marchf4 |
G |
A |
1: 72,467,973 (GRCm39) |
P353L |
probably benign |
Het |
Nadk |
A |
T |
4: 155,667,032 (GRCm39) |
|
probably benign |
Het |
Ncoa2 |
T |
C |
1: 13,247,389 (GRCm39) |
T345A |
probably damaging |
Het |
Niban3 |
A |
G |
8: 72,060,155 (GRCm39) |
|
probably benign |
Het |
Nsun6 |
T |
A |
2: 15,001,333 (GRCm39) |
M408L |
probably benign |
Het |
Nuak1 |
T |
A |
10: 84,229,908 (GRCm39) |
E155V |
probably damaging |
Het |
Oosp1 |
C |
T |
19: 11,645,158 (GRCm39) |
V169I |
possibly damaging |
Het |
Or13c7c |
C |
T |
4: 43,836,124 (GRCm39) |
R122H |
probably benign |
Het |
Or2t26 |
T |
A |
11: 49,039,842 (GRCm39) |
Y253N |
probably damaging |
Het |
Or5ae2 |
T |
C |
7: 84,505,756 (GRCm39) |
Y60H |
probably damaging |
Het |
Or5p81 |
T |
A |
7: 108,267,460 (GRCm39) |
V279E |
probably damaging |
Het |
Pabpc2 |
T |
C |
18: 39,908,238 (GRCm39) |
V501A |
probably benign |
Het |
Pik3c2a |
A |
G |
7: 115,953,334 (GRCm39) |
V1187A |
probably damaging |
Het |
Pkhd1 |
A |
G |
1: 20,484,516 (GRCm39) |
V2013A |
probably benign |
Het |
Psmd1 |
T |
A |
1: 86,055,914 (GRCm39) |
S759T |
possibly damaging |
Het |
Scgb1b2 |
T |
A |
7: 30,990,089 (GRCm39) |
K86N |
possibly damaging |
Het |
Sdk1 |
T |
C |
5: 142,080,381 (GRCm39) |
I1291T |
probably damaging |
Het |
Skint5 |
T |
C |
4: 113,341,090 (GRCm39) |
Y1396C |
probably benign |
Het |
Slc24a3 |
A |
G |
2: 145,448,746 (GRCm39) |
E380G |
probably benign |
Het |
Spock1 |
A |
G |
13: 57,588,263 (GRCm39) |
S270P |
probably damaging |
Het |
Tmem128 |
T |
C |
5: 38,419,418 (GRCm39) |
S57P |
probably damaging |
Het |
Tmem186 |
G |
A |
16: 8,453,887 (GRCm39) |
R125W |
probably benign |
Het |
Tnfaip3 |
A |
G |
10: 18,882,758 (GRCm39) |
S220P |
probably damaging |
Het |
Usp45 |
T |
C |
4: 21,830,505 (GRCm39) |
|
probably null |
Het |
Usp5 |
C |
T |
6: 124,795,437 (GRCm39) |
|
probably null |
Het |
Vmn1r35 |
A |
T |
6: 66,656,573 (GRCm39) |
C32* |
probably null |
Het |
Vmn2r112 |
T |
A |
17: 22,820,303 (GRCm39) |
F59I |
probably benign |
Het |
Wfdc9 |
A |
T |
2: 164,492,458 (GRCm39) |
S56R |
probably benign |
Het |
Zfp369 |
A |
G |
13: 65,444,806 (GRCm39) |
I650V |
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 |
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 |
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'- TGCTATCTGGACCGACTAGTG -3'
Sequencing Primer
(F):5'- TTTAATCCCAGCACTCGGGAG -3'
(R):5'- ACCGACTAGTGAATCTTGGTC -3'
|
Posted On |
2015-07-06 |