Incidental Mutation 'R0206:Zkscan1'
ID |
66380 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zkscan1
|
Ensembl Gene |
ENSMUSG00000029729 |
Gene Name |
zinc finger with KRAB and SCAN domains 1 |
Synonyms |
5930429A01Rik, KOX18, 9130423L19Rik, 9230118B16Rik |
MMRRC Submission |
038459-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
R0206 (G1)
|
Quality Score |
118 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
138083346-138106084 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 138099448 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 391
(C391S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106588
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019660]
[ENSMUST00000066617]
[ENSMUST00000110962]
[ENSMUST00000110963]
|
AlphaFold |
Q8BGS3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019660
AA Change: C464S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000019660 Gene: ENSMUSG00000029729 AA Change: C464S
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
35 |
N/A |
INTRINSIC |
SCAN
|
52 |
162 |
1.5e-75 |
SMART |
KRAB
|
225 |
285 |
5.7e-8 |
SMART |
low complexity region
|
300 |
314 |
N/A |
INTRINSIC |
low complexity region
|
316 |
337 |
N/A |
INTRINSIC |
ZnF_C2H2
|
375 |
397 |
1.3e-5 |
SMART |
ZnF_C2H2
|
403 |
425 |
7.3e-6 |
SMART |
ZnF_C2H2
|
431 |
453 |
5.6e-6 |
SMART |
ZnF_C2H2
|
459 |
481 |
4e-7 |
SMART |
ZnF_C2H2
|
487 |
509 |
3.8e-6 |
SMART |
ZnF_C2H2
|
515 |
537 |
5.7e-6 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066617
AA Change: C391S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000068480 Gene: ENSMUSG00000029729 AA Change: C391S
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
35 |
N/A |
INTRINSIC |
SCAN
|
52 |
162 |
4.62e-73 |
SMART |
low complexity region
|
227 |
241 |
N/A |
INTRINSIC |
low complexity region
|
243 |
264 |
N/A |
INTRINSIC |
ZnF_C2H2
|
302 |
324 |
2.95e-3 |
SMART |
ZnF_C2H2
|
330 |
352 |
1.69e-3 |
SMART |
ZnF_C2H2
|
358 |
380 |
1.28e-3 |
SMART |
ZnF_C2H2
|
386 |
408 |
9.22e-5 |
SMART |
ZnF_C2H2
|
414 |
436 |
9.08e-4 |
SMART |
ZnF_C2H2
|
442 |
464 |
1.28e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110962
AA Change: C391S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106587 Gene: ENSMUSG00000029729 AA Change: C391S
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
35 |
N/A |
INTRINSIC |
SCAN
|
52 |
162 |
4.62e-73 |
SMART |
low complexity region
|
227 |
241 |
N/A |
INTRINSIC |
low complexity region
|
243 |
264 |
N/A |
INTRINSIC |
ZnF_C2H2
|
302 |
324 |
2.95e-3 |
SMART |
ZnF_C2H2
|
330 |
352 |
1.69e-3 |
SMART |
ZnF_C2H2
|
358 |
380 |
1.28e-3 |
SMART |
ZnF_C2H2
|
386 |
408 |
9.22e-5 |
SMART |
ZnF_C2H2
|
414 |
436 |
9.08e-4 |
SMART |
ZnF_C2H2
|
442 |
464 |
1.28e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110963
AA Change: C391S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106588 Gene: ENSMUSG00000029729 AA Change: C391S
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
35 |
N/A |
INTRINSIC |
SCAN
|
52 |
162 |
4.62e-73 |
SMART |
low complexity region
|
227 |
241 |
N/A |
INTRINSIC |
low complexity region
|
243 |
264 |
N/A |
INTRINSIC |
ZnF_C2H2
|
302 |
324 |
2.95e-3 |
SMART |
ZnF_C2H2
|
330 |
352 |
1.69e-3 |
SMART |
ZnF_C2H2
|
358 |
380 |
1.28e-3 |
SMART |
ZnF_C2H2
|
386 |
408 |
9.22e-5 |
SMART |
ZnF_C2H2
|
414 |
436 |
9.08e-4 |
SMART |
ZnF_C2H2
|
442 |
464 |
1.28e-3 |
SMART |
|
Meta Mutation Damage Score |
0.7979 |
Coding Region Coverage |
- 1x: 95.8%
- 3x: 87.0%
- 10x: 38.5%
- 20x: 5.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Kruppel C2H2-type zinc-finger family of proteins. This encoded protein may function as a transcription factor that regulates the expression of GABA type-A receptors in the brain. Transcripts from this gene have been shown to form stable and abundant circular RNAs. Elevated expression of this gene has been observed in gastric cancer and the encoded protein may stimulate migration and invasion of human gastric cancer cells. [provided by RefSeq, Oct 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
G |
A |
17: 48,470,486 (GRCm39) |
T165I |
probably benign |
Het |
Adam26a |
A |
C |
8: 44,023,455 (GRCm39) |
F12V |
possibly damaging |
Het |
Aldh1l1 |
T |
C |
6: 90,546,848 (GRCm39) |
F384L |
possibly damaging |
Het |
Cit |
A |
T |
5: 116,132,089 (GRCm39) |
N1782Y |
possibly damaging |
Het |
Cmya5 |
A |
G |
13: 93,232,065 (GRCm39) |
S1008P |
probably damaging |
Het |
Dnah11 |
A |
C |
12: 118,007,509 (GRCm39) |
N2156K |
probably damaging |
Het |
Gm20441 |
A |
G |
10: 75,608,719 (GRCm39) |
M1T |
probably null |
Het |
Inhca |
A |
G |
9: 103,159,861 (GRCm39) |
C5R |
probably damaging |
Het |
Inpp5k |
T |
C |
11: 75,521,969 (GRCm39) |
I15T |
probably benign |
Het |
Loxhd1 |
T |
A |
18: 77,492,562 (GRCm39) |
F1334L |
possibly damaging |
Het |
Me3 |
A |
T |
7: 89,498,868 (GRCm39) |
T483S |
probably benign |
Het |
Med1 |
A |
G |
11: 98,046,515 (GRCm39) |
|
probably benign |
Het |
Mxra8 |
T |
A |
4: 155,927,053 (GRCm39) |
I329N |
probably damaging |
Het |
Mybphl |
T |
C |
3: 108,282,731 (GRCm39) |
V207A |
probably damaging |
Het |
Myom1 |
T |
C |
17: 71,344,292 (GRCm39) |
S266P |
probably damaging |
Het |
Or1d2 |
A |
T |
11: 74,255,968 (GRCm39) |
I158F |
probably benign |
Het |
Or52b1 |
A |
T |
7: 104,979,090 (GRCm39) |
M103K |
possibly damaging |
Het |
Or5m3 |
T |
C |
2: 85,838,636 (GRCm39) |
I172T |
probably damaging |
Het |
Or6f1 |
T |
C |
7: 85,970,854 (GRCm39) |
Y102C |
probably benign |
Het |
Prex2 |
T |
A |
1: 11,355,368 (GRCm39) |
D1556E |
probably damaging |
Het |
Slc35d1 |
T |
C |
4: 103,065,351 (GRCm39) |
T177A |
probably damaging |
Het |
Vmn2r6 |
T |
C |
3: 64,447,333 (GRCm39) |
T578A |
probably benign |
Het |
|
Other mutations in Zkscan1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03172:Zkscan1
|
APN |
5 |
138,092,264 (GRCm39) |
missense |
probably benign |
0.00 |
R0078:Zkscan1
|
UTSW |
5 |
138,091,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R0206:Zkscan1
|
UTSW |
5 |
138,099,448 (GRCm39) |
missense |
probably damaging |
1.00 |
R0324:Zkscan1
|
UTSW |
5 |
138,095,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R0503:Zkscan1
|
UTSW |
5 |
138,091,588 (GRCm39) |
missense |
probably damaging |
0.99 |
R0940:Zkscan1
|
UTSW |
5 |
138,091,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R1879:Zkscan1
|
UTSW |
5 |
138,095,410 (GRCm39) |
missense |
probably damaging |
1.00 |
R1926:Zkscan1
|
UTSW |
5 |
138,099,625 (GRCm39) |
missense |
probably benign |
0.33 |
R3749:Zkscan1
|
UTSW |
5 |
138,099,703 (GRCm39) |
missense |
probably damaging |
0.99 |
R5045:Zkscan1
|
UTSW |
5 |
138,099,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R5391:Zkscan1
|
UTSW |
5 |
138,095,363 (GRCm39) |
missense |
probably benign |
|
R6339:Zkscan1
|
UTSW |
5 |
138,091,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R6936:Zkscan1
|
UTSW |
5 |
138,091,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R7178:Zkscan1
|
UTSW |
5 |
138,099,192 (GRCm39) |
missense |
probably damaging |
0.99 |
R9309:Zkscan1
|
UTSW |
5 |
138,091,666 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Zkscan1
|
UTSW |
5 |
138,099,169 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
|
Posted On |
2013-08-19 |