Incidental Mutation 'R7006:Ciz1'
| ID |
544700 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ciz1
|
| Ensembl Gene |
ENSMUSG00000039205 |
| Gene Name |
CDKN1A interacting zinc finger protein 1 |
| Synonyms |
0610038H21Rik, 2900056O04Rik |
| MMRRC Submission |
045011-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R7006 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
32252724-32268311 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 32261127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048964]
[ENSMUST00000113331]
[ENSMUST00000113332]
[ENSMUST00000113334]
[ENSMUST00000113338]
[ENSMUST00000125818]
[ENSMUST00000131152]
[ENSMUST00000132028]
[ENSMUST00000136079]
|
| AlphaFold |
Q8VEH2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048964
AA Change: V346A
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000048428
Gene: ENSMUSG00000039205
AA Change: V346A
| 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: V322A
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000108957
Gene: ENSMUSG00000039205
AA Change: V322A
| 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
|
| SMART Domains |
Protein: ENSMUSP00000108958
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 |
|
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: V346A
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108960
Gene: ENSMUSG00000039205
AA Change: V346A
| 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: V346A
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108964
Gene: ENSMUSG00000039205
AA Change: V346A
| 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 null
Transcript: ENSMUST00000125482
|
| SMART Domains |
Protein: ENSMUSP00000120019
Gene: ENSMUSG00000039205
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
216 |
240 |
1.99e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125818
|
| SMART Domains |
Protein: ENSMUSP00000117937
Gene: ENSMUSG00000039205
| 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: ENSMUST00000131152
|
| SMART Domains |
Protein: ENSMUSP00000141211
Gene: ENSMUSG00000039205
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
5 |
45 |
N/A |
INTRINSIC |
|
| 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: ENSMUST00000136079
|
| SMART Domains |
Protein: ENSMUSP00000116812
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 |
|
| SMART Domains |
Protein: ENSMUSP00000122469
Gene: ENSMUSG00000039205
AA Change: V185A
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
A |
G |
4: 144,447,853 (GRCm39) |
V41A |
probably benign |
Het |
| Adcy2 |
G |
A |
13: 69,036,139 (GRCm39) |
T174M |
probably damaging |
Het |
| Ankfy1 |
T |
A |
11: 72,631,290 (GRCm39) |
I412N |
probably benign |
Het |
| AW146154 |
T |
C |
7: 41,130,648 (GRCm39) |
E156G |
possibly damaging |
Het |
| B4galnt1 |
T |
C |
10: 127,005,700 (GRCm39) |
L267P |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,989,895 (GRCm39) |
E276G |
probably damaging |
Het |
| Ccdc187 |
T |
C |
2: 26,171,102 (GRCm39) |
T459A |
probably benign |
Het |
| Ccdc196 |
T |
A |
12: 78,255,702 (GRCm39) |
*177R |
probably null |
Het |
| Cep72 |
G |
A |
13: 74,198,427 (GRCm39) |
Q311* |
probably null |
Het |
| Cir1 |
T |
C |
2: 73,140,834 (GRCm39) |
Q45R |
probably damaging |
Het |
| Crtap |
G |
T |
9: 114,215,391 (GRCm39) |
A166E |
probably damaging |
Het |
| Dipk1a |
A |
G |
5: 108,058,027 (GRCm39) |
V132A |
probably benign |
Het |
| Dmp1 |
A |
G |
5: 104,360,188 (GRCm39) |
D288G |
probably benign |
Het |
| Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
| Fmnl2 |
C |
A |
2: 52,998,266 (GRCm39) |
Q544K |
probably benign |
Het |
| Gpsm1 |
T |
C |
2: 26,212,572 (GRCm39) |
L72P |
probably damaging |
Het |
| Gys1 |
G |
A |
7: 45,089,437 (GRCm39) |
A199T |
probably damaging |
Het |
| Kcnq3 |
A |
C |
15: 65,892,165 (GRCm39) |
Y403* |
probably null |
Het |
| Kcp |
A |
C |
6: 29,499,169 (GRCm39) |
Y298D |
probably damaging |
Het |
| Kif5c |
T |
C |
2: 49,625,526 (GRCm39) |
S599P |
probably damaging |
Het |
| Krt20 |
A |
T |
11: 99,328,587 (GRCm39) |
Y113N |
probably benign |
Het |
| Mcm8 |
T |
G |
2: 132,665,181 (GRCm39) |
V191G |
probably damaging |
Het |
| Msr1 |
T |
A |
8: 40,042,423 (GRCm39) |
D384V |
probably damaging |
Het |
| Mtpap |
A |
C |
18: 4,380,873 (GRCm39) |
S184R |
possibly damaging |
Het |
| Npc1l1 |
G |
A |
11: 6,167,731 (GRCm39) |
T1020M |
probably benign |
Het |
| Nphp4 |
A |
G |
4: 152,573,259 (GRCm39) |
T66A |
probably benign |
Het |
| Or1o3 |
T |
A |
17: 37,573,625 (GRCm39) |
*310L |
probably null |
Het |
| Or4f14 |
C |
A |
2: 111,742,601 (GRCm39) |
V225L |
probably benign |
Het |
| Or8h10 |
G |
A |
2: 86,808,303 (GRCm39) |
T279I |
probably damaging |
Het |
| Or8k18 |
T |
A |
2: 86,085,572 (GRCm39) |
Q155L |
probably benign |
Het |
| Phf11d |
G |
T |
14: 59,590,823 (GRCm39) |
T178K |
probably benign |
Het |
| Ppm1d |
A |
G |
11: 85,227,977 (GRCm39) |
K298E |
possibly damaging |
Het |
| Rab2b |
A |
T |
14: 52,503,690 (GRCm39) |
I144K |
probably benign |
Het |
| Stoml1 |
A |
G |
9: 58,167,523 (GRCm39) |
D5G |
probably damaging |
Het |
| Styxl2 |
T |
C |
1: 165,926,663 (GRCm39) |
N983S |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,626,188 (GRCm39) |
V515A |
probably damaging |
Het |
| Tas1r3 |
A |
G |
4: 155,947,361 (GRCm39) |
V108A |
possibly damaging |
Het |
| Tifab |
T |
C |
13: 56,324,059 (GRCm39) |
Y128C |
probably benign |
Het |
| Tmc6 |
G |
T |
11: 117,665,083 (GRCm39) |
R397S |
probably damaging |
Het |
| Tnpo3 |
C |
T |
6: 29,589,162 (GRCm39) |
A63T |
probably damaging |
Het |
| Trgc4 |
T |
A |
13: 19,528,995 (GRCm39) |
|
probably benign |
Het |
| Usp16 |
G |
T |
16: 87,268,724 (GRCm39) |
C284F |
probably damaging |
Het |
| Wipf1 |
T |
C |
2: 73,267,441 (GRCm39) |
D319G |
probably damaging |
Het |
| Xpnpep3 |
T |
A |
15: 81,326,649 (GRCm39) |
W347R |
probably damaging |
Het |
| Zfp180 |
G |
T |
7: 23,804,537 (GRCm39) |
E319* |
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 |
|
R6612:Ciz1
|
UTSW |
2 |
32,267,323 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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'- CTTTGCTAGCTCAGAGGAGTCC -3'
(R):5'- GATGTCTGCTCCTGTGACTG -3'
Sequencing Primer
(F):5'- TAGCTCAGAGGAGTCCACCGAG -3'
(R):5'- CTGCTCCTGTGACTGTGCTTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation