Incidental Mutation 'R5429:Ciz1'
| ID |
427047 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ciz1
|
| Ensembl Gene |
ENSMUSG00000039205 |
| Gene Name |
CDKN1A interacting zinc finger protein 1 |
| Synonyms |
0610038H21Rik, 2900056O04Rik |
| MMRRC Submission |
042995-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.171)
|
| Stock # |
R5429 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
32352327-32380970 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32376043 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 609
(I609K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108957
(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 |
possibly damaging
Transcript: ENSMUST00000048964
AA Change: I633K
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000048428
Gene: ENSMUSG00000039205
AA Change: I633K
| 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: I609K
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108957
Gene: ENSMUSG00000039205
AA Change: I609K
| 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: I579K
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108958
Gene: ENSMUSG00000039205
AA Change: I579K
| 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: I633K
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108960
Gene: ENSMUSG00000039205
AA Change: I633K
| 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: I633K
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108964
Gene: ENSMUSG00000039205
AA Change: I633K
| 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 benign
Transcript: ENSMUST00000125818
AA Change: I40K
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000117937
Gene: ENSMUSG00000039205
AA Change: I40K
| 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: ENSMUST00000132290
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134141
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137220
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000149184
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192758
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145957
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410141K09Rik |
G |
A |
13: 66,431,828 |
P199S |
probably benign |
Het |
| Akap13 |
T |
G |
7: 75,602,904 |
S261A |
possibly damaging |
Het |
| Ankrd34a |
G |
A |
3: 96,597,521 |
G14R |
probably damaging |
Het |
| Auts2 |
G |
A |
5: 131,472,335 |
T289M |
probably damaging |
Het |
| Btaf1 |
G |
A |
19: 36,994,857 |
V1331I |
possibly damaging |
Het |
| Clca3b |
C |
T |
3: 144,846,459 |
V154I |
probably damaging |
Het |
| Csde1 |
A |
G |
3: 103,052,841 |
T564A |
possibly damaging |
Het |
| Csrnp2 |
A |
G |
15: 100,482,054 |
V452A |
probably benign |
Het |
| Ctnnd1 |
C |
T |
2: 84,616,789 |
V371M |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,832,881 |
D677G |
probably damaging |
Het |
| Filip1l |
A |
T |
16: 57,570,255 |
E402V |
probably damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,445,147 |
|
noncoding transcript |
Het |
| Ghr |
G |
A |
15: 3,388,675 |
Q37* |
probably null |
Het |
| Gm10770 |
C |
T |
2: 150,179,423 |
R58H |
probably benign |
Het |
| Gm12789 |
T |
C |
4: 101,989,961 |
Y148H |
possibly damaging |
Het |
| Herc4 |
T |
A |
10: 63,275,013 |
N234K |
probably benign |
Het |
| Itih3 |
A |
G |
14: 30,923,521 |
V10A |
probably benign |
Het |
| Kat14 |
T |
A |
2: 144,393,323 |
D234E |
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,772,769 |
|
probably null |
Het |
| Kif2b |
A |
G |
11: 91,577,229 |
V76A |
probably benign |
Het |
| Mboat1 |
A |
G |
13: 30,219,667 |
T150A |
probably benign |
Het |
| Mfsd1 |
T |
A |
3: 67,599,960 |
L398H |
probably damaging |
Het |
| Myt1l |
G |
A |
12: 29,832,332 |
G509R |
unknown |
Het |
| Nfx1 |
T |
C |
4: 41,004,343 |
C705R |
probably damaging |
Het |
| Olfr318 |
T |
A |
11: 58,720,524 |
N175Y |
probably damaging |
Het |
| Olfr60 |
A |
G |
7: 140,345,273 |
F239L |
possibly damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,384,200 |
S931P |
probably benign |
Het |
| Pdpk1 |
T |
C |
17: 24,091,560 |
E205G |
probably benign |
Het |
| Ppp2r2a |
A |
T |
14: 67,023,756 |
F172I |
probably damaging |
Het |
| Ppp2r5e |
T |
A |
12: 75,453,763 |
D452V |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,345,355 |
T185S |
probably damaging |
Het |
| Rpusd4 |
T |
C |
9: 35,272,602 |
V209A |
probably benign |
Het |
| Safb |
T |
C |
17: 56,588,822 |
V20A |
probably benign |
Het |
| Scaf8 |
C |
A |
17: 3,197,110 |
P903T |
probably benign |
Het |
| Slc30a7 |
A |
G |
3: 116,006,925 |
S31P |
possibly damaging |
Het |
| Slc9b1 |
T |
C |
3: 135,373,263 |
|
probably null |
Het |
| Sntb1 |
C |
G |
15: 55,642,795 |
G461R |
probably damaging |
Het |
| Tbc1d32 |
T |
C |
10: 56,027,993 |
D1226G |
probably damaging |
Het |
| Tlnrd1 |
G |
T |
7: 83,882,314 |
T303N |
probably damaging |
Het |
| Tmc1 |
G |
T |
19: 20,789,622 |
N738K |
possibly damaging |
Het |
| Tmem41a |
A |
G |
16: 21,934,856 |
I255T |
probably benign |
Het |
| Trim7 |
G |
A |
11: 48,849,955 |
C293Y |
probably damaging |
Het |
| Trpc6 |
C |
T |
9: 8,634,074 |
Q385* |
probably null |
Het |
| Ttc39b |
A |
G |
4: 83,243,953 |
I330T |
possibly damaging |
Het |
| Vil1 |
C |
T |
1: 74,432,331 |
T757I |
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,060,077 |
V1201A |
probably damaging |
Het |
| Zfp473 |
T |
A |
7: 44,732,848 |
E686V |
possibly damaging |
Het |
|
| Other mutations in Ciz1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00418:Ciz1
|
APN |
2 |
32372388 |
missense |
probably damaging |
1.00 |
|
IGL01872:Ciz1
|
APN |
2 |
32378109 |
utr 3 prime |
probably benign |
|
|
R0029:Ciz1
|
UTSW |
2 |
32371419 |
splice site |
probably benign |
|
|
R0122:Ciz1
|
UTSW |
2 |
32371419 |
splice site |
probably benign |
|
|
R0363:Ciz1
|
UTSW |
2 |
32377363 |
critical splice donor site |
probably null |
|
|
R0373:Ciz1
|
UTSW |
2 |
32367467 |
missense |
probably damaging |
1.00 |
|
R0653:Ciz1
|
UTSW |
2 |
32372406 |
missense |
probably damaging |
1.00 |
|
R0816:Ciz1
|
UTSW |
2 |
32376376 |
unclassified |
probably benign |
|
|
R1255:Ciz1
|
UTSW |
2 |
32365876 |
critical splice donor site |
probably null |
|
|
R2116:Ciz1
|
UTSW |
2 |
32367465 |
missense |
probably damaging |
0.99 |
|
R3161:Ciz1
|
UTSW |
2 |
32370063 |
missense |
probably benign |
0.11 |
|
R3732:Ciz1
|
UTSW |
2 |
32367483 |
missense |
possibly damaging |
0.68 |
|
R4014:Ciz1
|
UTSW |
2 |
32374344 |
missense |
probably damaging |
0.96 |
|
R4386:Ciz1
|
UTSW |
2 |
32370099 |
missense |
possibly damaging |
0.92 |
|
R4687:Ciz1
|
UTSW |
2 |
32367465 |
missense |
probably damaging |
0.99 |
|
R4786:Ciz1
|
UTSW |
2 |
32377527 |
missense |
probably damaging |
1.00 |
|
R4825:Ciz1
|
UTSW |
2 |
32371741 |
missense |
probably damaging |
0.99 |
|
R4869:Ciz1
|
UTSW |
2 |
32364235 |
missense |
probably damaging |
0.99 |
|
R4871:Ciz1
|
UTSW |
2 |
32372288 |
splice site |
probably benign |
|
|
R5270:Ciz1
|
UTSW |
2 |
32374499 |
splice site |
probably null |
|
|
R5621:Ciz1
|
UTSW |
2 |
32371741 |
missense |
probably damaging |
0.96 |
|
R5721:Ciz1
|
UTSW |
2 |
32376040 |
missense |
probably damaging |
1.00 |
|
R5805:Ciz1
|
UTSW |
2 |
32367396 |
missense |
probably damaging |
1.00 |
|
R5960:Ciz1
|
UTSW |
2 |
32371216 |
missense |
possibly damaging |
0.85 |
|
R6187:Ciz1
|
UTSW |
2 |
32370051 |
missense |
possibly damaging |
0.90 |
|
R6612:Ciz1
|
UTSW |
2 |
32377311 |
missense |
possibly damaging |
0.93 |
|
R7006:Ciz1
|
UTSW |
2 |
32371115 |
critical splice donor site |
probably null |
|
|
R7200:Ciz1
|
UTSW |
2 |
32364287 |
missense |
probably damaging |
1.00 |
|
R7498:Ciz1
|
UTSW |
2 |
32371749 |
missense |
probably benign |
|
|
R7574:Ciz1
|
UTSW |
2 |
32367368 |
missense |
probably benign |
0.16 |
|
R7910:Ciz1
|
UTSW |
2 |
32370127 |
critical splice donor site |
probably null |
|
|
R8390:Ciz1
|
UTSW |
2 |
32367323 |
missense |
probably benign |
0.00 |
|
R8749:Ciz1
|
UTSW |
2 |
32365836 |
missense |
probably benign |
0.03 |
|
R8765:Ciz1
|
UTSW |
2 |
32370883 |
missense |
probably damaging |
0.99 |
|
R8784:Ciz1
|
UTSW |
2 |
32370250 |
missense |
probably benign |
0.01 |
|
R8812:Ciz1
|
UTSW |
2 |
32364274 |
missense |
probably benign |
0.00 |
|
R8927:Ciz1
|
UTSW |
2 |
32367500 |
nonsense |
probably null |
|
|
R8928:Ciz1
|
UTSW |
2 |
32367500 |
nonsense |
probably null |
|
|
R9681:Ciz1
|
UTSW |
2 |
32370962 |
missense |
possibly damaging |
0.71 |
|
R9744:Ciz1
|
UTSW |
2 |
32363847 |
missense |
unknown |
|
|
X0018:Ciz1
|
UTSW |
2 |
32371252 |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTTGCATGTCCCAGTGCAG -3'
(R):5'- TCAAGTGTCTTCAGCTGCC -3'
Sequencing Primer
(F):5'- CCAGTGCAGGGGCGGAG -3'
(R):5'- TCTTCAGCTGCCCGAGGAATG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation