Incidental Mutation 'R5960:Ciz1'
| ID |
471389 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ciz1
|
| Ensembl Gene |
ENSMUSG00000039205 |
| Gene Name |
CDKN1A interacting zinc finger protein 1 |
| Synonyms |
0610038H21Rik, 2900056O04Rik |
| MMRRC Submission |
044147-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R5960 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
32252724-32268311 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 32261228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 356
(Q356K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048964]
[ENSMUST00000113331]
[ENSMUST00000113332]
[ENSMUST00000113334]
[ENSMUST00000113338]
[ENSMUST00000131152]
[ENSMUST00000136079]
[ENSMUST00000125818]
[ENSMUST00000132028]
|
| AlphaFold |
Q8VEH2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048964
AA Change: Q380K
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000048428
Gene: ENSMUSG00000039205
AA Change: Q380K
| 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: Q356K
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108957
Gene: ENSMUSG00000039205
AA Change: Q356K
| 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: Q380K
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000108960
Gene: ENSMUSG00000039205
AA Change: Q380K
| 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: Q380K
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000108964
Gene: ENSMUSG00000039205
AA Change: Q380K
| 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 |
unknown
Transcript: ENSMUST00000139637
AA Change: Q219K
|
| SMART Domains |
Protein: ENSMUSP00000122469
Gene: ENSMUSG00000039205
AA Change: Q219K
| 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: ENSMUST00000132290
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192758
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134141
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145957
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192055
|
| 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: 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 |
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: 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: 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 |
|
| Meta Mutation Damage Score |
0.1010 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 92.9%
|
| Validation Efficiency |
99% (71/72) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 137,889,528 (GRCm39) |
T30A |
possibly damaging |
Het |
| Adat1 |
T |
C |
8: 112,709,233 (GRCm39) |
M197V |
probably benign |
Het |
| Alcam |
T |
C |
16: 52,115,489 (GRCm39) |
T210A |
probably benign |
Het |
| Ankfy1 |
T |
A |
11: 72,648,178 (GRCm39) |
S886R |
possibly damaging |
Het |
| Aopep |
G |
A |
13: 63,388,087 (GRCm39) |
R22Q |
probably damaging |
Het |
| Atg2a |
T |
G |
19: 6,304,390 (GRCm39) |
F1136V |
probably damaging |
Het |
| Birc6 |
A |
T |
17: 74,835,760 (GRCm39) |
T72S |
probably damaging |
Het |
| Caskin1 |
A |
G |
17: 24,717,869 (GRCm39) |
T219A |
probably benign |
Het |
| Catsperg1 |
A |
G |
7: 28,884,208 (GRCm39) |
|
probably benign |
Het |
| Cdh12 |
A |
G |
15: 21,492,562 (GRCm39) |
|
probably null |
Het |
| Cfap126 |
A |
G |
1: 170,952,882 (GRCm39) |
D45G |
probably damaging |
Het |
| Ckmt1 |
T |
A |
2: 121,194,058 (GRCm39) |
I407N |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,121,430 (GRCm39) |
E1756K |
possibly damaging |
Het |
| Cwf19l2 |
A |
G |
9: 3,411,404 (GRCm39) |
K94E |
probably benign |
Het |
| Cyth1 |
A |
G |
11: 118,023,193 (GRCm39) |
|
probably benign |
Het |
| Ddx25 |
A |
G |
9: 35,465,807 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dock3 |
C |
A |
9: 106,788,554 (GRCm39) |
G138* |
probably null |
Het |
| Fam20a |
G |
A |
11: 109,566,795 (GRCm39) |
|
probably benign |
Het |
| Fanci |
A |
G |
7: 79,093,510 (GRCm39) |
T1006A |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,486,405 (GRCm39) |
Y3320H |
probably damaging |
Het |
| Fndc8 |
A |
G |
11: 82,788,398 (GRCm39) |
D76G |
probably benign |
Het |
| Gm19965 |
T |
C |
1: 116,749,201 (GRCm39) |
I294T |
possibly damaging |
Het |
| Gm9755 |
T |
G |
8: 67,967,840 (GRCm39) |
|
noncoding transcript |
Het |
| Iars1 |
T |
C |
13: 49,878,113 (GRCm39) |
V879A |
possibly damaging |
Het |
| Ifi209 |
A |
T |
1: 173,466,382 (GRCm39) |
|
probably null |
Het |
| Itgb2l |
T |
C |
16: 96,227,459 (GRCm39) |
H528R |
probably benign |
Het |
| Marf1 |
T |
C |
16: 13,970,281 (GRCm39) |
Q146R |
probably damaging |
Het |
| Megf11 |
A |
G |
9: 64,567,731 (GRCm39) |
T407A |
probably benign |
Het |
| Mtg1 |
T |
C |
7: 139,726,906 (GRCm39) |
|
probably benign |
Het |
| Nhsl1 |
T |
G |
10: 18,402,724 (GRCm39) |
S1317A |
probably benign |
Het |
| Nhsl3 |
A |
G |
4: 129,115,865 (GRCm39) |
V933A |
probably damaging |
Het |
| Nudt16 |
A |
T |
9: 105,008,698 (GRCm39) |
C63S |
possibly damaging |
Het |
| Nup107 |
T |
C |
10: 117,625,915 (GRCm39) |
I49V |
probably null |
Het |
| Or51a24 |
G |
T |
7: 103,733,560 (GRCm39) |
N242K |
probably damaging |
Het |
| Or5m13 |
T |
A |
2: 85,749,069 (GRCm39) |
S267T |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,463,495 (GRCm39) |
S671P |
possibly damaging |
Het |
| Paox |
A |
G |
7: 139,712,402 (GRCm39) |
D211G |
probably benign |
Het |
| Pck2 |
A |
G |
14: 55,786,004 (GRCm39) |
T571A |
possibly damaging |
Het |
| Pigg |
A |
G |
5: 108,484,160 (GRCm39) |
E469G |
probably benign |
Het |
| Pikfyve |
C |
A |
1: 65,292,597 (GRCm39) |
Y1349* |
probably null |
Het |
| Prickle2 |
A |
G |
6: 92,353,286 (GRCm39) |
F783L |
probably benign |
Het |
| Prpf40b |
G |
T |
15: 99,212,785 (GRCm39) |
R627L |
probably damaging |
Het |
| Rasgrf1 |
A |
G |
9: 89,903,437 (GRCm39) |
I1217V |
possibly damaging |
Het |
| Rbm26 |
A |
T |
14: 105,387,751 (GRCm39) |
V457D |
probably damaging |
Het |
| Rex1bd |
C |
A |
8: 70,959,156 (GRCm39) |
R49L |
probably null |
Het |
| Robo2 |
A |
T |
16: 73,730,603 (GRCm39) |
L1003Q |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,446,144 (GRCm39) |
D2730G |
probably benign |
Het |
| Setd6 |
T |
A |
8: 96,442,827 (GRCm39) |
L88H |
probably damaging |
Het |
| Smim35 |
T |
C |
9: 45,154,288 (GRCm39) |
Y50H |
probably damaging |
Het |
| Sncb |
A |
G |
13: 54,910,795 (GRCm39) |
|
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,722,225 (GRCm39) |
H985L |
probably benign |
Het |
| Spmap2 |
T |
G |
10: 79,421,765 (GRCm39) |
K151T |
possibly damaging |
Het |
| Stard9 |
A |
G |
2: 120,530,442 (GRCm39) |
E2233G |
probably benign |
Het |
| Susd2 |
C |
T |
10: 75,475,770 (GRCm39) |
V410I |
probably damaging |
Het |
| Synm |
A |
G |
7: 67,385,494 (GRCm39) |
S281P |
probably damaging |
Het |
| Syvn1 |
C |
T |
19: 6,100,598 (GRCm39) |
R330C |
probably damaging |
Het |
| Tiam2 |
A |
T |
17: 3,488,915 (GRCm39) |
D741V |
probably benign |
Het |
| Tph1 |
A |
G |
7: 46,311,429 (GRCm39) |
|
probably null |
Het |
| Trav7-5 |
T |
A |
14: 53,768,706 (GRCm39) |
H91Q |
probably benign |
Het |
| Tymp |
A |
T |
15: 89,260,778 (GRCm39) |
|
probably null |
Het |
| Usp45 |
A |
C |
4: 21,810,797 (GRCm39) |
D331A |
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 |
|
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 |
|
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'- TCCAAATGCTGCCGCGTATC -3'
(R):5'- AGAGGATAGCTGTGGTTCCG -3'
Sequencing Primer
(F):5'- GGCACTGCAGATCCAGAC -3'
(R):5'- ATAGCTGTGGTTCCGTGGCAC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation