Incidental Mutation 'R0105:Zkscan6'
| ID |
17445 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zkscan6
|
| Ensembl Gene |
ENSMUSG00000018347 |
| Gene Name |
zinc finger with KRAB and SCAN domains 6 |
| Synonyms |
D11Ertd714e, Zfp535, 1700128E15Rik, KOX11 |
| MMRRC Submission |
038391-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R0105 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
65698001-65720065 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65712811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 248
(L248Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018491]
[ENSMUST00000071465]
|
| AlphaFold |
Q810A1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018491
AA Change: L248Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018491
Gene: ENSMUSG00000018347
AA Change: L248Q
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
37 |
149 |
2.75e-57 |
SMART |
|
KRAB
|
223 |
280 |
4.18e-3 |
SMART |
|
ZnF_C2H2
|
415 |
437 |
1.08e-1 |
SMART |
|
ZnF_C2H2
|
443 |
465 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
471 |
493 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
499 |
521 |
4.94e-5 |
SMART |
|
ZnF_C2H2
|
527 |
549 |
1.72e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071465
AA Change: L248Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071406
Gene: ENSMUSG00000018347
AA Change: L248Q
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
37 |
149 |
2.75e-57 |
SMART |
|
KRAB
|
223 |
280 |
4.18e-3 |
SMART |
|
ZnF_C2H2
|
415 |
437 |
1.08e-1 |
SMART |
|
ZnF_C2H2
|
443 |
465 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
471 |
493 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
499 |
521 |
4.94e-5 |
SMART |
|
ZnF_C2H2
|
527 |
549 |
1.72e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.4950 |
| Coding Region Coverage |
- 1x: 85.3%
- 3x: 77.7%
- 10x: 47.9%
- 20x: 15.1%
|
| Validation Efficiency |
96% (53/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530053G22Rik |
T |
C |
6: 60,379,137 (GRCm39) |
|
noncoding transcript |
Het |
| Adcy9 |
A |
G |
16: 4,106,252 (GRCm39) |
V954A |
probably damaging |
Het |
| Aldh8a1 |
T |
A |
10: 21,271,438 (GRCm39) |
M388K |
probably damaging |
Het |
| Cdsn |
A |
C |
17: 35,867,035 (GRCm39) |
R521S |
possibly damaging |
Het |
| Cog3 |
A |
G |
14: 75,959,580 (GRCm39) |
S591P |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,216,876 (GRCm39) |
V698D |
probably benign |
Het |
| Crmp1 |
T |
A |
5: 37,441,479 (GRCm39) |
D520E |
probably damaging |
Het |
| Ddhd1 |
T |
C |
14: 45,848,147 (GRCm39) |
D507G |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,132,262 (GRCm39) |
A1147T |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,735,111 (GRCm39) |
S1030P |
probably benign |
Het |
| Fam20b |
T |
C |
1: 156,518,140 (GRCm39) |
E218G |
probably damaging |
Het |
| Gab2 |
T |
C |
7: 96,948,279 (GRCm39) |
Y290H |
probably damaging |
Het |
| Gm973 |
A |
G |
1: 59,621,633 (GRCm39) |
Q591R |
probably null |
Het |
| Gsdmc2 |
T |
C |
15: 63,700,026 (GRCm39) |
T249A |
probably benign |
Het |
| Il15ra |
T |
A |
2: 11,735,459 (GRCm39) |
|
probably null |
Het |
| Isy1 |
G |
A |
6: 87,796,167 (GRCm39) |
R257W |
probably damaging |
Het |
| Krt76 |
T |
C |
15: 101,793,347 (GRCm39) |
T564A |
unknown |
Het |
| Lrrk1 |
G |
T |
7: 65,942,089 (GRCm39) |
D716E |
probably damaging |
Het |
| Mogat1 |
A |
G |
1: 78,500,307 (GRCm39) |
T124A |
probably benign |
Het |
| Mroh7 |
T |
C |
4: 106,568,467 (GRCm39) |
T48A |
possibly damaging |
Het |
| Or4a71 |
T |
C |
2: 89,358,707 (GRCm39) |
T16A |
probably benign |
Het |
| Pkhd1 |
G |
A |
1: 20,593,956 (GRCm39) |
Q1386* |
probably null |
Het |
| Pla2r1 |
T |
C |
2: 60,345,325 (GRCm39) |
R344G |
possibly damaging |
Het |
| Plekhg4 |
G |
A |
8: 106,108,644 (GRCm39) |
V1202M |
possibly damaging |
Het |
| Ppil4 |
A |
G |
10: 7,674,210 (GRCm39) |
Y118C |
probably damaging |
Het |
| Ptpn4 |
C |
T |
1: 119,615,335 (GRCm39) |
|
probably null |
Het |
| Reln |
G |
A |
5: 22,253,813 (GRCm39) |
R600W |
probably damaging |
Het |
| Sumf2 |
T |
A |
5: 129,878,735 (GRCm39) |
|
probably benign |
Het |
| Tex10 |
C |
A |
4: 48,468,957 (GRCm39) |
V73F |
probably damaging |
Het |
| Tgm5 |
C |
A |
2: 120,907,493 (GRCm39) |
G77W |
probably damaging |
Het |
| Tnfrsf21 |
T |
A |
17: 43,351,082 (GRCm39) |
|
probably null |
Het |
| Treml2 |
C |
T |
17: 48,609,856 (GRCm39) |
T96I |
probably damaging |
Het |
| Zcchc17 |
T |
A |
4: 130,243,099 (GRCm39) |
D28V |
probably benign |
Het |
|
| Other mutations in Zkscan6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Zkscan6
|
APN |
11 |
65,719,287 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL00941:Zkscan6
|
APN |
11 |
65,705,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01784:Zkscan6
|
APN |
11 |
65,705,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02423:Zkscan6
|
APN |
11 |
65,719,120 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03001:Zkscan6
|
APN |
11 |
65,705,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0105:Zkscan6
|
UTSW |
11 |
65,712,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0112:Zkscan6
|
UTSW |
11 |
65,705,689 (GRCm39) |
splice site |
probably benign |
|
|
R0542:Zkscan6
|
UTSW |
11 |
65,719,525 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1636:Zkscan6
|
UTSW |
11 |
65,705,256 (GRCm39) |
start gained |
probably benign |
|
|
R2235:Zkscan6
|
UTSW |
11 |
65,719,098 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3926:Zkscan6
|
UTSW |
11 |
65,719,051 (GRCm39) |
missense |
probably benign |
|
|
R6083:Zkscan6
|
UTSW |
11 |
65,706,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6277:Zkscan6
|
UTSW |
11 |
65,718,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6558:Zkscan6
|
UTSW |
11 |
65,719,051 (GRCm39) |
missense |
probably benign |
|
|
R6733:Zkscan6
|
UTSW |
11 |
65,719,461 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7301:Zkscan6
|
UTSW |
11 |
65,719,051 (GRCm39) |
missense |
probably benign |
|
|
R7432:Zkscan6
|
UTSW |
11 |
65,705,189 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7466:Zkscan6
|
UTSW |
11 |
65,719,357 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9511:Zkscan6
|
UTSW |
11 |
65,712,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9513:Zkscan6
|
UTSW |
11 |
65,712,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-01-31 |
Incidental Mutation