Incidental Mutation 'R1108:Zik1'
| ID |
98550 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zik1
|
| Ensembl Gene |
ENSMUSG00000030393 |
| Gene Name |
zinc finger protein interacting with K protein 1 |
| Synonyms |
|
| MMRRC Submission |
039181-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R1108 (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: 98.3%
- 10x: 96.3%
- 20x: 93.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,610,333 (GRCm39) |
T170A |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,799,834 (GRCm39) |
Y404H |
probably damaging |
Het |
| Calb2 |
T |
A |
8: 110,869,760 (GRCm39) |
R258* |
probably null |
Het |
| Cep128 |
T |
A |
12: 91,305,883 (GRCm39) |
E173D |
probably damaging |
Het |
| Cndp2 |
A |
G |
18: 84,693,185 (GRCm39) |
C192R |
probably damaging |
Het |
| Dtx3 |
T |
A |
10: 127,027,158 (GRCm39) |
I339F |
possibly damaging |
Het |
| Esrrb |
G |
A |
12: 86,552,604 (GRCm39) |
R182Q |
probably damaging |
Het |
| Fgf22 |
T |
C |
10: 79,592,417 (GRCm39) |
I58T |
probably damaging |
Het |
| Flcn |
A |
G |
11: 59,692,026 (GRCm39) |
F208L |
possibly damaging |
Het |
| Fras1 |
G |
A |
5: 96,790,488 (GRCm39) |
C954Y |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Kmt2a |
G |
T |
9: 44,760,359 (GRCm39) |
L530I |
probably damaging |
Het |
| Man1c1 |
T |
C |
4: 134,291,924 (GRCm39) |
E548G |
probably damaging |
Het |
| Myh4 |
T |
G |
11: 67,146,532 (GRCm39) |
L1502V |
probably null |
Het |
| Or51f23 |
G |
A |
7: 102,453,057 (GRCm39) |
R124H |
probably benign |
Het |
| Or7e174 |
A |
C |
9: 20,012,121 (GRCm39) |
D22A |
probably benign |
Het |
| Pak4 |
A |
G |
7: 28,259,667 (GRCm39) |
M510T |
probably damaging |
Het |
| Plk2 |
A |
G |
13: 110,536,023 (GRCm39) |
M576V |
probably damaging |
Het |
| Rmc1 |
G |
A |
18: 12,314,680 (GRCm39) |
D87N |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,439,498 (GRCm39) |
C9R |
probably benign |
Het |
| Spata31e2 |
C |
G |
1: 26,721,547 (GRCm39) |
S1211T |
possibly damaging |
Het |
| Svs6 |
T |
C |
2: 164,159,580 (GRCm39) |
|
probably null |
Het |
| Teddm1a |
T |
C |
1: 153,768,066 (GRCm39) |
W177R |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,375 (GRCm39) |
R800G |
probably benign |
Het |
| Zfp971 |
C |
T |
2: 177,675,463 (GRCm39) |
P354L |
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 |
|
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 |
|
R1107: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