Incidental Mutation 'R5459:Zkscan3'
ID |
432942 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zkscan3
|
Ensembl Gene |
ENSMUSG00000021327 |
Gene Name |
zinc finger with KRAB and SCAN domains 3 |
Synonyms |
Zfp306, 2810435N07Rik, Skz1, Zfp307 |
MMRRC Submission |
043022-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R5459 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
21571173-21586925 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 21578982 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 142
(V142E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153231
(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: V171E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000068424 Gene: ENSMUSG00000021327 AA Change: V171E
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 |
possibly damaging
Transcript: ENSMUST00000116433
AA Change: V171E
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000112134 Gene: ENSMUSG00000021327 AA Change: V171E
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: V171E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000112135 Gene: ENSMUSG00000021327 AA Change: V171E
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 |
possibly damaging
Transcript: ENSMUST00000117721
AA Change: V171E
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000112862 Gene: ENSMUSG00000021327 AA Change: V171E
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 |
possibly damaging
Transcript: ENSMUST00000223831
AA Change: V4E
PolyPhen 2
Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224820
AA Change: V142E
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(5) : Gene trapped(5) |
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300002M23Rik |
A |
G |
17: 35,879,079 (GRCm39) |
E139G |
possibly damaging |
Het |
Abcc6 |
T |
C |
7: 45,631,607 (GRCm39) |
N1223S |
probably benign |
Het |
Adamts3 |
A |
T |
5: 89,839,332 (GRCm39) |
|
probably null |
Het |
Aloxe3 |
T |
A |
11: 69,023,654 (GRCm39) |
F259Y |
possibly damaging |
Het |
Armc9 |
G |
A |
1: 86,135,694 (GRCm39) |
R550Q |
probably damaging |
Het |
Ctnnd2 |
A |
G |
15: 30,887,334 (GRCm39) |
D787G |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,148,472 (GRCm39) |
I283V |
probably null |
Het |
Ebf2 |
A |
G |
14: 67,472,650 (GRCm39) |
M23V |
probably benign |
Het |
Fbxw11 |
T |
C |
11: 32,689,191 (GRCm39) |
V438A |
possibly damaging |
Het |
Fcrla |
G |
A |
1: 170,745,738 (GRCm39) |
T348M |
possibly damaging |
Het |
Gpr179 |
A |
T |
11: 97,227,483 (GRCm39) |
H1557Q |
probably benign |
Het |
Gpr87 |
A |
G |
3: 59,087,148 (GRCm39) |
V119A |
possibly damaging |
Het |
Grep1 |
C |
T |
17: 23,930,817 (GRCm39) |
|
probably benign |
Het |
Hfm1 |
A |
G |
5: 107,052,629 (GRCm39) |
S285P |
probably damaging |
Het |
Hs3st5 |
T |
C |
10: 36,704,742 (GRCm39) |
V15A |
possibly damaging |
Het |
Hyal5 |
C |
T |
6: 24,891,250 (GRCm39) |
H355Y |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Map4k3 |
T |
A |
17: 80,917,216 (GRCm39) |
N587Y |
probably damaging |
Het |
Mcm3ap |
T |
A |
10: 76,332,316 (GRCm39) |
L1211* |
probably null |
Het |
Mcmdc2 |
A |
G |
1: 10,007,309 (GRCm39) |
I620V |
probably benign |
Het |
Mical2 |
C |
T |
7: 111,981,444 (GRCm39) |
H539Y |
probably benign |
Het |
Myo9a |
T |
C |
9: 59,791,803 (GRCm39) |
L1802P |
probably damaging |
Het |
Neto2 |
T |
A |
8: 86,397,112 (GRCm39) |
I47F |
probably benign |
Het |
Oog3 |
G |
A |
4: 143,885,815 (GRCm39) |
T261I |
probably benign |
Het |
Or5b95 |
A |
G |
19: 12,657,799 (GRCm39) |
E109G |
probably damaging |
Het |
Pdilt |
A |
G |
7: 119,086,158 (GRCm39) |
L519P |
probably benign |
Het |
Pnpla6 |
A |
T |
8: 3,585,829 (GRCm39) |
M844L |
probably benign |
Het |
Polk |
C |
T |
13: 96,631,984 (GRCm39) |
G250R |
probably damaging |
Het |
Rasal2 |
A |
G |
1: 156,985,231 (GRCm39) |
S839P |
probably damaging |
Het |
Siae |
T |
C |
9: 37,528,119 (GRCm39) |
Y31H |
probably damaging |
Het |
Slc27a2 |
T |
C |
2: 126,422,912 (GRCm39) |
V379A |
probably damaging |
Het |
Snx9 |
C |
T |
17: 5,970,913 (GRCm39) |
T418M |
probably damaging |
Het |
Spata31e2 |
A |
C |
1: 26,724,272 (GRCm39) |
S303A |
probably damaging |
Het |
Srp72 |
A |
G |
5: 77,132,185 (GRCm39) |
T258A |
probably benign |
Het |
Tango6 |
T |
A |
8: 107,576,921 (GRCm39) |
D1058E |
probably damaging |
Het |
Tecpr1 |
T |
A |
5: 144,144,234 (GRCm39) |
Y656F |
probably damaging |
Het |
Tnik |
T |
A |
3: 28,715,890 (GRCm39) |
I1168K |
probably damaging |
Het |
Togaram1 |
A |
G |
12: 65,014,510 (GRCm39) |
E587G |
probably damaging |
Het |
Tyw1 |
A |
C |
5: 130,303,547 (GRCm39) |
D305A |
probably damaging |
Het |
Vmn1r19 |
T |
A |
6: 57,381,475 (GRCm39) |
Y9* |
probably null |
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 |
IGL02741:Zkscan3
|
APN |
13 |
21,578,164 (GRCm39) |
missense |
probably benign |
0.05 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCTAGTAGCTGTCACTCC -3'
(R):5'- GCCAAGCTGATAGGAAATGTC -3'
Sequencing Primer
(F):5'- GTGAGACTCACTCTAGCATCAG -3'
(R):5'- CCAAGCTGATAGGAAATGTCTTTGG -3'
|
Posted On |
2016-10-06 |