Incidental Mutation 'IGL02741:Zkscan3'
ID |
305919 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zkscan3
|
Ensembl Gene |
ENSMUSG00000021327 |
Gene Name |
zinc finger with KRAB and SCAN domains 3 |
Synonyms |
Zfp306, 2810435N07Rik, Skz1, Zfp307 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
IGL02741
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
21571173-21586925 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 21578164 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 241
(M241K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070785]
[ENSMUST00000116433]
[ENSMUST00000116434]
[ENSMUST00000117721]
[ENSMUST00000223831]
[ENSMUST00000224820]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070785
AA Change: M241K
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000068424 Gene: ENSMUSG00000021327 AA Change: M241K
Domain | Start | End | E-Value | Type |
SCAN
|
47 |
159 |
4.18e-71 |
SMART |
KRAB
|
213 |
273 |
4.07e-6 |
SMART |
ZnF_C2H2
|
313 |
335 |
4.17e-3 |
SMART |
ZnF_C2H2
|
341 |
363 |
1.38e-3 |
SMART |
ZnF_C2H2
|
369 |
391 |
9.88e-5 |
SMART |
ZnF_C2H2
|
397 |
419 |
1.95e-3 |
SMART |
ZnF_C2H2
|
425 |
447 |
3.95e-4 |
SMART |
ZnF_C2H2
|
479 |
501 |
5.21e-4 |
SMART |
ZnF_C2H2
|
507 |
529 |
1.2e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000116433
AA Change: M241K
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000112134 Gene: ENSMUSG00000021327 AA Change: M241K
Domain | Start | End | E-Value | Type |
SCAN
|
47 |
159 |
4.18e-71 |
SMART |
KRAB
|
213 |
273 |
1.12e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000116434
AA Change: M241K
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000112135 Gene: ENSMUSG00000021327 AA Change: M241K
Domain | Start | End | E-Value | Type |
SCAN
|
47 |
159 |
4.18e-71 |
SMART |
KRAB
|
213 |
273 |
4.07e-6 |
SMART |
ZnF_C2H2
|
313 |
335 |
4.17e-3 |
SMART |
ZnF_C2H2
|
341 |
363 |
1.38e-3 |
SMART |
ZnF_C2H2
|
369 |
391 |
9.88e-5 |
SMART |
ZnF_C2H2
|
397 |
419 |
1.95e-3 |
SMART |
ZnF_C2H2
|
425 |
447 |
3.95e-4 |
SMART |
ZnF_C2H2
|
479 |
501 |
5.21e-4 |
SMART |
ZnF_C2H2
|
507 |
529 |
1.2e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117721
AA Change: M241K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000112862 Gene: ENSMUSG00000021327 AA Change: M241K
Domain | Start | End | E-Value | Type |
SCAN
|
47 |
159 |
4.18e-71 |
SMART |
KRAB
|
213 |
256 |
3.96e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145631
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184464
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223831
AA Change: M74K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224820
AA Change: M212K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(5) : Gene trapped(5) |
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930004D18Rik |
T |
C |
2: 18,032,007 (GRCm39) |
Y37C |
unknown |
Het |
Arhgap20 |
T |
A |
9: 51,759,945 (GRCm39) |
C599S |
probably benign |
Het |
Bcl6b |
C |
A |
11: 70,119,942 (GRCm39) |
R15L |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dchs1 |
C |
T |
7: 105,406,530 (GRCm39) |
D2262N |
probably damaging |
Het |
Dsg4 |
A |
G |
18: 20,604,553 (GRCm39) |
M1007V |
probably benign |
Het |
Fgd6 |
A |
G |
10: 93,959,152 (GRCm39) |
K1032R |
possibly damaging |
Het |
Fras1 |
T |
A |
5: 96,839,230 (GRCm39) |
M1583K |
probably benign |
Het |
Gjc3 |
A |
T |
5: 137,955,726 (GRCm39) |
C186* |
probably null |
Het |
Gm14496 |
A |
G |
2: 181,633,136 (GRCm39) |
R40G |
probably benign |
Het |
Ibtk |
T |
C |
9: 85,608,665 (GRCm39) |
R416G |
probably damaging |
Het |
Kcnc4 |
A |
G |
3: 107,355,294 (GRCm39) |
F385L |
probably damaging |
Het |
Mapk8ip2 |
T |
C |
15: 89,341,700 (GRCm39) |
S304P |
probably damaging |
Het |
Mbd6 |
A |
G |
10: 127,123,263 (GRCm39) |
|
probably null |
Het |
Mroh2b |
T |
C |
15: 4,935,114 (GRCm39) |
F183S |
probably benign |
Het |
Nrg1 |
T |
A |
8: 32,312,316 (GRCm39) |
T334S |
probably damaging |
Het |
Pigw |
C |
T |
11: 84,769,192 (GRCm39) |
V46I |
probably benign |
Het |
Pkdrej |
T |
C |
15: 85,701,631 (GRCm39) |
E1435G |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,290,253 (GRCm39) |
|
probably benign |
Het |
Prkdc |
A |
T |
16: 15,570,590 (GRCm39) |
|
probably benign |
Het |
Ptprd |
A |
T |
4: 76,051,521 (GRCm39) |
I247N |
probably damaging |
Het |
Rfx1 |
A |
G |
8: 84,822,471 (GRCm39) |
Q923R |
possibly damaging |
Het |
Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
Rps6ka2 |
T |
A |
17: 7,563,415 (GRCm39) |
F608I |
probably benign |
Het |
Slc13a1 |
A |
T |
6: 24,150,707 (GRCm39) |
|
probably null |
Het |
Slc6a20b |
C |
T |
9: 123,436,667 (GRCm39) |
V249M |
probably damaging |
Het |
Slc9c1 |
A |
G |
16: 45,401,961 (GRCm39) |
I783V |
possibly damaging |
Het |
Swap70 |
G |
T |
7: 109,873,856 (GRCm39) |
M401I |
probably benign |
Het |
Tmco4 |
A |
T |
4: 138,757,188 (GRCm39) |
I407F |
probably damaging |
Het |
Trpm4 |
T |
A |
7: 44,967,912 (GRCm39) |
S340C |
possibly damaging |
Het |
Tsc2 |
T |
C |
17: 24,848,943 (GRCm39) |
E79G |
probably damaging |
Het |
Ubr1 |
A |
C |
2: 120,771,572 (GRCm39) |
S439A |
probably benign |
Het |
Vmn1r73 |
T |
C |
7: 11,490,710 (GRCm39) |
V176A |
probably benign |
Het |
Vmn2r17 |
G |
A |
5: 109,568,077 (GRCm39) |
D67N |
probably benign |
Het |
Wasf1 |
C |
T |
10: 40,806,705 (GRCm39) |
T116M |
probably damaging |
Het |
|
Other mutations in Zkscan3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01574:Zkscan3
|
APN |
13 |
21,578,261 (GRCm39) |
splice site |
probably benign |
|
IGL02406:Zkscan3
|
APN |
13 |
21,572,348 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02725:Zkscan3
|
APN |
13 |
21,579,063 (GRCm39) |
missense |
possibly damaging |
0.85 |
3-1:Zkscan3
|
UTSW |
13 |
21,572,051 (GRCm39) |
missense |
probably benign |
0.32 |
R0040:Zkscan3
|
UTSW |
13 |
21,579,090 (GRCm39) |
splice site |
probably null |
|
R0040:Zkscan3
|
UTSW |
13 |
21,579,090 (GRCm39) |
splice site |
probably null |
|
R0133:Zkscan3
|
UTSW |
13 |
21,578,944 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0660:Zkscan3
|
UTSW |
13 |
21,572,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R0737:Zkscan3
|
UTSW |
13 |
21,572,766 (GRCm39) |
missense |
probably benign |
|
R1250:Zkscan3
|
UTSW |
13 |
21,572,694 (GRCm39) |
missense |
probably benign |
0.32 |
R1671:Zkscan3
|
UTSW |
13 |
21,580,305 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1926:Zkscan3
|
UTSW |
13 |
21,580,616 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2899:Zkscan3
|
UTSW |
13 |
21,578,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R4119:Zkscan3
|
UTSW |
13 |
21,578,119 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4120:Zkscan3
|
UTSW |
13 |
21,578,119 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4606:Zkscan3
|
UTSW |
13 |
21,577,953 (GRCm39) |
missense |
probably benign |
0.00 |
R5459:Zkscan3
|
UTSW |
13 |
21,578,982 (GRCm39) |
missense |
probably damaging |
0.96 |
R5549:Zkscan3
|
UTSW |
13 |
21,578,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R5631:Zkscan3
|
UTSW |
13 |
21,578,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R5988:Zkscan3
|
UTSW |
13 |
21,580,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R6495:Zkscan3
|
UTSW |
13 |
21,572,075 (GRCm39) |
missense |
probably damaging |
0.97 |
R7286:Zkscan3
|
UTSW |
13 |
21,578,983 (GRCm39) |
missense |
probably benign |
|
R7363:Zkscan3
|
UTSW |
13 |
21,571,992 (GRCm39) |
missense |
probably damaging |
0.99 |
R7443:Zkscan3
|
UTSW |
13 |
21,572,608 (GRCm39) |
nonsense |
probably null |
|
R7787:Zkscan3
|
UTSW |
13 |
21,572,034 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9008:Zkscan3
|
UTSW |
13 |
21,572,383 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9048:Zkscan3
|
UTSW |
13 |
21,580,686 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
R9260:Zkscan3
|
UTSW |
13 |
21,578,210 (GRCm39) |
missense |
probably damaging |
0.98 |
R9281:Zkscan3
|
UTSW |
13 |
21,579,045 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9300:Zkscan3
|
UTSW |
13 |
21,577,667 (GRCm39) |
missense |
unknown |
|
Z1088:Zkscan3
|
UTSW |
13 |
21,572,735 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Posted On |
2015-04-16 |