Incidental Mutation 'R5721:Ciz1'
| ID |
451428 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ciz1
|
| Ensembl Gene |
ENSMUSG00000039205 |
| Gene Name |
CDKN1A interacting zinc finger protein 1 |
| Synonyms |
0610038H21Rik, 2900056O04Rik |
| MMRRC Submission |
043189-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R5721 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
32252724-32268311 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32266052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 39
(T39I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117937
(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 |
probably damaging
Transcript: ENSMUST00000048964
AA Change: T632I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048428
Gene: ENSMUSG00000039205
AA Change: T632I
| 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: ENSMUST00000113331
AA Change: T608I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108957
Gene: ENSMUSG00000039205
AA Change: T608I
| 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: T578I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108958
Gene: ENSMUSG00000039205
AA Change: T578I
| 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: T632I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108960
Gene: ENSMUSG00000039205
AA Change: T632I
| 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: T632I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108964
Gene: ENSMUSG00000039205
AA Change: T632I
| 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 |
probably damaging
Transcript: ENSMUST00000125818
AA Change: T39I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117937
Gene: ENSMUSG00000039205
AA Change: T39I
| 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 |
noncoding transcript
Transcript: ENSMUST00000134141
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149184
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192758
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145957
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132290
|
| 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
T |
15: 84,844,798 (GRCm39) |
V30D |
probably damaging |
Het |
| Atl3 |
T |
A |
19: 7,506,376 (GRCm39) |
M302K |
probably benign |
Het |
| Ccdc91 |
C |
G |
6: 147,477,001 (GRCm39) |
L230V |
unknown |
Het |
| Cog8 |
T |
C |
8: 107,776,780 (GRCm39) |
T532A |
probably benign |
Het |
| Ctsr |
C |
T |
13: 61,309,667 (GRCm39) |
G181S |
possibly damaging |
Het |
| Drc7 |
T |
C |
8: 95,800,961 (GRCm39) |
|
probably null |
Het |
| Dvl2 |
A |
G |
11: 69,896,819 (GRCm39) |
R238G |
possibly damaging |
Het |
| Faf1 |
T |
C |
4: 109,792,863 (GRCm39) |
F612L |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,789,296 (GRCm39) |
M605L |
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gprc6a |
A |
T |
10: 51,491,076 (GRCm39) |
M716K |
probably benign |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Ift70a1 |
A |
T |
2: 75,811,715 (GRCm39) |
Y123N |
probably damaging |
Het |
| Jcad |
A |
T |
18: 4,676,044 (GRCm39) |
T1269S |
possibly damaging |
Het |
| Kif23 |
C |
G |
9: 61,851,498 (GRCm39) |
G66A |
probably benign |
Het |
| Lrrd1 |
T |
C |
5: 3,900,619 (GRCm39) |
M308T |
probably benign |
Het |
| Lsg1 |
C |
T |
16: 30,380,593 (GRCm39) |
A615T |
probably benign |
Het |
| Mcph1 |
G |
A |
8: 18,721,223 (GRCm39) |
V684M |
probably damaging |
Het |
| Mpv17l |
T |
C |
16: 13,764,658 (GRCm39) |
Y62H |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,635,565 (GRCm39) |
S68P |
probably damaging |
Het |
| Or13d1 |
G |
T |
4: 52,971,068 (GRCm39) |
W149L |
probably damaging |
Het |
| Osgepl1 |
A |
T |
1: 53,360,359 (GRCm39) |
M362L |
possibly damaging |
Het |
| P2ry14 |
T |
C |
3: 59,022,452 (GRCm39) |
|
probably null |
Het |
| Pacsin3 |
T |
A |
2: 91,094,580 (GRCm39) |
C402S |
probably damaging |
Het |
| Papss2 |
A |
G |
19: 32,638,064 (GRCm39) |
Y392C |
probably damaging |
Het |
| Plekha8 |
T |
A |
6: 54,590,091 (GRCm39) |
W19R |
probably damaging |
Het |
| Prdm15 |
A |
T |
16: 97,608,296 (GRCm39) |
I667N |
possibly damaging |
Het |
| Rab11fip2 |
A |
G |
19: 59,924,042 (GRCm39) |
S279P |
probably damaging |
Het |
| Slc6a20b |
C |
A |
9: 123,441,054 (GRCm39) |
G131C |
probably null |
Het |
| Suox |
T |
C |
10: 128,507,162 (GRCm39) |
I289V |
possibly damaging |
Het |
| Tbc1d16 |
C |
T |
11: 119,049,556 (GRCm39) |
|
probably null |
Het |
| Tmem269 |
T |
C |
4: 119,067,146 (GRCm39) |
T146A |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,558,911 (GRCm39) |
R29657W |
probably damaging |
Het |
| Vmn1r84 |
C |
A |
7: 12,096,153 (GRCm39) |
C168F |
probably damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,657,499 (GRCm39) |
F180L |
probably benign |
Het |
| Zfand4 |
C |
G |
6: 116,264,956 (GRCm39) |
D140E |
probably 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 |
|
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'- TTTGCATGTCCCAGTGCAGG -3'
(R):5'- TTCAAGTGTCTTCAGCTGCC -3'
Sequencing Primer
(F):5'- CCAGTGCAGGGGCGGAG -3'
(R):5'- TCTTCAGCTGCCCGAGGAATG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation