Incidental Mutation 'R1107:Zik1'
| ID |
98513 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zik1
|
| Ensembl Gene |
ENSMUSG00000030393 |
| Gene Name |
zinc finger protein interacting with K protein 1 |
| Synonyms |
|
| MMRRC Submission |
039180-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R1107 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
10221151-10229308 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 10224312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 262
(R262C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032551]
|
| AlphaFold |
Q80YP6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032551
AA Change: R262C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032551
Gene: ENSMUSG00000030393
AA Change: R262C
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
1.41e-9 |
SMART |
|
ZnF_C2H2
|
215 |
237 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
243 |
265 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
271 |
293 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
299 |
321 |
5.67e-5 |
SMART |
|
ZnF_C2H2
|
327 |
349 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
355 |
377 |
6.52e-5 |
SMART |
|
ZnF_C2H2
|
383 |
405 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
411 |
433 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
439 |
461 |
8.67e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck2 |
T |
C |
6: 39,562,719 (GRCm39) |
V530A |
possibly damaging |
Het |
| Apba2 |
G |
A |
7: 64,395,467 (GRCm39) |
V636I |
possibly damaging |
Het |
| Cacna1b |
G |
A |
2: 24,587,615 (GRCm39) |
A625V |
probably damaging |
Het |
| Ccdc134 |
C |
A |
15: 82,018,892 (GRCm39) |
R141S |
possibly damaging |
Het |
| Ccdc134 |
T |
A |
15: 82,018,895 (GRCm39) |
W142R |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dlg1 |
A |
G |
16: 31,665,734 (GRCm39) |
E697G |
probably benign |
Het |
| Fezf2 |
A |
T |
14: 12,342,624 (GRCm38) |
C414S |
probably damaging |
Het |
| Kif26b |
A |
C |
1: 178,745,238 (GRCm39) |
N1778T |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,393,304 (GRCm39) |
Y2683C |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,564,791 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Pclo |
T |
A |
5: 14,727,883 (GRCm39) |
|
probably benign |
Het |
| Rnf220 |
C |
A |
4: 117,142,587 (GRCm39) |
G114V |
probably damaging |
Het |
| Tasor |
C |
T |
14: 27,201,680 (GRCm39) |
Q49* |
probably null |
Het |
|
| Other mutations in Zik1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4791001:Zik1
|
UTSW |
7 |
10,226,256 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1105:Zik1
|
UTSW |
7 |
10,224,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1106:Zik1
|
UTSW |
7 |
10,224,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1108:Zik1
|
UTSW |
7 |
10,224,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1533:Zik1
|
UTSW |
7 |
10,224,053 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1671:Zik1
|
UTSW |
7 |
10,224,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1713:Zik1
|
UTSW |
7 |
10,224,311 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1718:Zik1
|
UTSW |
7 |
10,226,269 (GRCm39) |
nonsense |
probably null |
|
|
R1718:Zik1
|
UTSW |
7 |
10,226,268 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1921:Zik1
|
UTSW |
7 |
10,223,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4356:Zik1
|
UTSW |
7 |
10,224,268 (GRCm39) |
nonsense |
probably null |
|
|
R4466:Zik1
|
UTSW |
7 |
10,224,893 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5763:Zik1
|
UTSW |
7 |
10,226,293 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5950:Zik1
|
UTSW |
7 |
10,224,498 (GRCm39) |
nonsense |
probably null |
|
|
R8006:Zik1
|
UTSW |
7 |
10,224,100 (GRCm39) |
nonsense |
probably null |
|
|
R8145:Zik1
|
UTSW |
7 |
10,223,930 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8754:Zik1
|
UTSW |
7 |
10,223,826 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9245:Zik1
|
UTSW |
7 |
10,224,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9387:Zik1
|
UTSW |
7 |
10,224,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9759:Zik1
|
UTSW |
7 |
10,223,716 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Y4336:Zik1
|
UTSW |
7 |
10,224,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Y4338:Zik1
|
UTSW |
7 |
10,224,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGTACGGATTTGGAGGAGCTAAATG -3'
(R):5'- AGAGCCTTTCCAGTCAAAAGCAAACA -3'
Sequencing Primer
(F):5'- tttcccacactcactacacttg -3'
(R):5'- GTCAAAAGCAAACACTTGCTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation