Incidental Mutation 'R5549:Zkscan3'
ID |
435054 |
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 |
043106-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R5549 (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 G
at 21578233 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 189
(V189A)
|
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 |
possibly damaging
Transcript: ENSMUST00000070785
AA Change: V218A
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000068424 Gene: ENSMUSG00000021327 AA Change: V218A
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 damaging
Transcript: ENSMUST00000116433
AA Change: V218A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112134 Gene: ENSMUSG00000021327 AA Change: V218A
Domain | Start | End | E-Value | Type |
SCAN
|
47 |
159 |
4.18e-71 |
SMART |
KRAB
|
213 |
273 |
1.12e-3 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000116434
AA Change: V218A
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000112135 Gene: ENSMUSG00000021327 AA Change: V218A
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 damaging
Transcript: ENSMUST00000117721
AA Change: V218A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000112862 Gene: ENSMUSG00000021327 AA Change: V218A
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: V51A
PolyPhen 2
Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224820
AA Change: V189A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.9%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(5) : Gene trapped(5) |
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,384,993 (GRCm39) |
E324G |
possibly damaging |
Het |
Acad8 |
C |
T |
9: 26,896,847 (GRCm39) |
R204Q |
probably damaging |
Het |
Adgrg7 |
T |
G |
16: 56,570,790 (GRCm39) |
T413P |
probably damaging |
Het |
Ankrd11 |
A |
G |
8: 123,617,117 (GRCm39) |
I2224T |
probably benign |
Het |
Arhgap23 |
A |
G |
11: 97,357,394 (GRCm39) |
D964G |
probably damaging |
Het |
Atf6b |
A |
G |
17: 34,870,657 (GRCm39) |
D367G |
probably damaging |
Het |
Axdnd1 |
A |
G |
1: 156,226,104 (GRCm39) |
L131P |
probably damaging |
Het |
Bmp8b |
T |
C |
4: 123,018,278 (GRCm39) |
V383A |
probably damaging |
Het |
C5ar2 |
A |
G |
7: 15,970,868 (GRCm39) |
V353A |
probably damaging |
Het |
Ccr5 |
C |
A |
9: 123,925,408 (GRCm39) |
A337E |
probably benign |
Het |
Cftr |
G |
A |
6: 18,227,953 (GRCm39) |
V382I |
probably benign |
Het |
Csmd3 |
G |
C |
15: 48,048,753 (GRCm39) |
S446C |
probably damaging |
Het |
Cyp2d12 |
A |
G |
15: 82,440,498 (GRCm39) |
T96A |
probably benign |
Het |
Diaph3 |
T |
G |
14: 87,216,106 (GRCm39) |
I465L |
probably benign |
Het |
Fabp3 |
A |
G |
4: 130,209,018 (GRCm39) |
*134W |
probably null |
Het |
Fgf22 |
G |
T |
10: 79,592,696 (GRCm39) |
M130I |
probably damaging |
Het |
Flnc |
G |
A |
6: 29,453,690 (GRCm39) |
V1792M |
probably damaging |
Het |
Grik3 |
G |
A |
4: 125,579,838 (GRCm39) |
A528T |
possibly damaging |
Het |
Hecw2 |
G |
A |
1: 53,964,850 (GRCm39) |
R659W |
possibly damaging |
Het |
Hmbs |
C |
T |
9: 44,250,774 (GRCm39) |
|
probably null |
Het |
Ift122 |
T |
G |
6: 115,868,983 (GRCm39) |
L490R |
probably damaging |
Het |
Igkv4-63 |
T |
C |
6: 69,355,116 (GRCm39) |
H55R |
probably damaging |
Het |
Itga4 |
A |
T |
2: 79,086,611 (GRCm39) |
N96I |
probably damaging |
Het |
Kcna7 |
A |
T |
7: 45,056,063 (GRCm39) |
H93L |
probably damaging |
Het |
Klhdc7b |
A |
G |
15: 89,271,562 (GRCm39) |
I815V |
probably benign |
Het |
Lcmt1 |
G |
A |
7: 123,027,330 (GRCm39) |
E298K |
probably damaging |
Het |
Ly6g6f |
A |
G |
17: 35,302,333 (GRCm39) |
V68A |
possibly damaging |
Het |
Map3k8 |
C |
T |
18: 4,340,762 (GRCm39) |
C184Y |
probably damaging |
Het |
Mcemp1 |
A |
G |
8: 3,718,340 (GRCm39) |
T183A |
possibly damaging |
Het |
Mobp |
T |
G |
9: 119,996,876 (GRCm39) |
S2R |
probably damaging |
Het |
Mprip |
A |
G |
11: 59,651,644 (GRCm39) |
S1783G |
probably benign |
Het |
Mterf3 |
C |
A |
13: 67,076,321 (GRCm39) |
A129S |
probably benign |
Het |
Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
Nr2c1 |
A |
G |
10: 94,003,558 (GRCm39) |
T239A |
probably benign |
Het |
Odr4 |
A |
G |
1: 150,247,909 (GRCm39) |
S325P |
possibly damaging |
Het |
Oplah |
G |
A |
15: 76,182,466 (GRCm39) |
A963V |
probably damaging |
Het |
Or13a26 |
A |
G |
7: 140,284,712 (GRCm39) |
|
probably null |
Het |
Parp14 |
C |
T |
16: 35,661,505 (GRCm39) |
S1481N |
probably benign |
Het |
Prxl2a |
T |
C |
14: 40,726,013 (GRCm39) |
K44E |
possibly damaging |
Het |
Rictor |
C |
T |
15: 6,816,391 (GRCm39) |
T1221M |
probably damaging |
Het |
Rpe |
G |
A |
1: 66,755,163 (GRCm39) |
D182N |
probably damaging |
Het |
Slc24a3 |
C |
A |
2: 145,448,784 (GRCm39) |
P443T |
probably damaging |
Het |
Slc25a47 |
T |
C |
12: 108,822,143 (GRCm39) |
*311Q |
probably null |
Het |
Sox2 |
C |
G |
3: 34,705,142 (GRCm39) |
A193G |
probably benign |
Het |
Svep1 |
T |
C |
4: 58,057,954 (GRCm39) |
S3284G |
probably benign |
Het |
Zfp369 |
A |
T |
13: 65,445,194 (GRCm39) |
H779L |
probably damaging |
Het |
Zfp513 |
A |
T |
5: 31,357,947 (GRCm39) |
L144Q |
possibly damaging |
Het |
Zfp526 |
T |
C |
7: 24,925,109 (GRCm39) |
F456S |
possibly damaging |
Het |
Zfp791 |
C |
T |
8: 85,836,835 (GRCm39) |
G343D |
probably damaging |
Het |
Zfp941 |
A |
C |
7: 140,388,021 (GRCm39) |
I664S |
possibly 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 |
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 |
R5459:Zkscan3
|
UTSW |
13 |
21,578,982 (GRCm39) |
missense |
probably damaging |
0.96 |
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'- AGCCTCATGGGGAAGTAGGTTC -3'
(R):5'- CCCAGTTCCTAGTTGGGATGTG -3'
Sequencing Primer
(F):5'- CTCATGGGGAAGTAGGTTCTACTATG -3'
(R):5'- TGGAAATTGAACCCAGGTCCTCTG -3'
|
Posted On |
2016-10-24 |