Incidental Mutation 'R1105:Zik1'
| ID |
98437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zik1
|
| Ensembl Gene |
ENSMUSG00000030393 |
| Gene Name |
zinc finger protein interacting with K protein 1 |
| Synonyms |
|
| MMRRC Submission |
039178-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R1105 (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: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Bcl6 |
G |
T |
16: 23,784,905 (GRCm39) |
D698E |
probably benign |
Het |
| Catsperz |
A |
T |
19: 6,902,303 (GRCm39) |
Y64N |
probably benign |
Het |
| Clstn2 |
T |
C |
9: 97,465,552 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Duox1 |
A |
T |
2: 122,168,183 (GRCm39) |
T1103S |
probably damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,916,434 (GRCm39) |
S292P |
probably damaging |
Het |
| Hs3st1 |
GGTACAGGCTGCGGTTGAGAGCCTTGTA |
GGTA |
5: 39,772,041 (GRCm39) |
|
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Klk1b16 |
C |
T |
7: 43,788,937 (GRCm39) |
R57C |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,302,779 (GRCm39) |
S752G |
probably benign |
Het |
| Ndrg1 |
T |
A |
15: 66,812,080 (GRCm39) |
N204Y |
probably damaging |
Het |
| Ripk1 |
T |
C |
13: 34,212,150 (GRCm39) |
Y487H |
probably benign |
Het |
| Rpl18a |
T |
C |
8: 71,348,658 (GRCm39) |
N77S |
probably damaging |
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 |
|
R1106:Zik1
|
UTSW |
7 |
10,224,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1107: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'- GTACGGATTTGGAGGAGCTAAATGATGT -3'
(R):5'- GTCAGAGCCTTTCCAGTCAAAAGCA -3'
Sequencing Primer
(F):5'- tttcccacactcactacacttg -3'
(R):5'- TTTCCAGTCAAAAGCAAACACTTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation