Incidental Mutation 'IGL01755:Zkscan17'
ID |
153179 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zkscan17
|
Ensembl Gene |
ENSMUSG00000020472 |
Gene Name |
zinc finger with KRAB and SCAN domains 17 |
Synonyms |
Zfp496, Nizp1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01755
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
59376346-59397466 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 59378241 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 314
(F314S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098709
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013262]
[ENSMUST00000101150]
|
AlphaFold |
Q5SXI5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000013262
AA Change: F470S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000013262 Gene: ENSMUSG00000020472 AA Change: F470S
Domain | Start | End | E-Value | Type |
SCAN
|
38 |
149 |
1.99e-54 |
SMART |
KRAB
|
219 |
273 |
8.69e-1 |
SMART |
ZnF_C2H2
|
405 |
425 |
4.34e0 |
SMART |
ZnF_C2H2
|
433 |
455 |
2.36e-2 |
SMART |
ZnF_C2H2
|
461 |
483 |
3.63e-3 |
SMART |
low complexity region
|
493 |
508 |
N/A |
INTRINSIC |
ZnF_C2H2
|
520 |
543 |
6.13e-1 |
SMART |
ZnF_C2H2
|
551 |
573 |
1.56e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000101150
AA Change: F314S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098709 Gene: ENSMUSG00000020472 AA Change: F314S
Domain | Start | End | E-Value | Type |
KRAB
|
63 |
117 |
8.69e-1 |
SMART |
ZnF_C2H2
|
249 |
269 |
4.34e0 |
SMART |
ZnF_C2H2
|
277 |
299 |
2.36e-2 |
SMART |
ZnF_C2H2
|
305 |
327 |
3.63e-3 |
SMART |
low complexity region
|
337 |
352 |
N/A |
INTRINSIC |
ZnF_C2H2
|
364 |
387 |
6.13e-1 |
SMART |
ZnF_C2H2
|
395 |
417 |
1.56e-2 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atf6 |
A |
G |
1: 170,616,180 (GRCm39) |
I520T |
possibly damaging |
Het |
Azgp1 |
A |
T |
5: 137,988,109 (GRCm39) |
K297M |
possibly damaging |
Het |
Cyp2e1 |
A |
G |
7: 140,354,469 (GRCm39) |
|
probably null |
Het |
Dapk1 |
C |
A |
13: 60,908,989 (GRCm39) |
L1201M |
probably damaging |
Het |
Dapk1 |
T |
A |
13: 60,908,990 (GRCm39) |
L1201Q |
possibly damaging |
Het |
Insrr |
A |
T |
3: 87,721,493 (GRCm39) |
D1133V |
probably damaging |
Het |
Kcnc4 |
T |
C |
3: 107,355,491 (GRCm39) |
N319S |
probably damaging |
Het |
Kctd1 |
A |
G |
18: 15,195,694 (GRCm39) |
C310R |
possibly damaging |
Het |
Nefl |
A |
G |
14: 68,323,526 (GRCm39) |
D384G |
probably damaging |
Het |
Nfatc3 |
A |
G |
8: 106,854,553 (GRCm39) |
N1029S |
probably benign |
Het |
Nup107 |
T |
C |
10: 117,610,398 (GRCm39) |
Y348C |
probably damaging |
Het |
Or5b117 |
T |
C |
19: 13,431,179 (GRCm39) |
K234R |
probably damaging |
Het |
Or5w8 |
T |
A |
2: 87,687,854 (GRCm39) |
C112S |
possibly damaging |
Het |
Phf8-ps |
T |
A |
17: 33,285,951 (GRCm39) |
N284Y |
probably damaging |
Het |
Phldb2 |
T |
C |
16: 45,645,945 (GRCm39) |
E212G |
probably damaging |
Het |
Pirb |
A |
T |
7: 3,720,169 (GRCm39) |
N401K |
probably benign |
Het |
Plcg2 |
T |
C |
8: 118,347,980 (GRCm39) |
F1183S |
possibly damaging |
Het |
Plekhf2 |
A |
T |
4: 10,991,308 (GRCm39) |
N11K |
probably damaging |
Het |
Slc7a11 |
A |
G |
3: 50,378,516 (GRCm39) |
Y241H |
probably benign |
Het |
Sltm |
T |
G |
9: 70,491,204 (GRCm39) |
|
probably null |
Het |
Taf4b |
A |
G |
18: 15,031,042 (GRCm39) |
T809A |
probably benign |
Het |
Taf4b |
C |
A |
18: 15,031,043 (GRCm39) |
T809N |
probably benign |
Het |
Tesk1 |
T |
C |
4: 43,445,820 (GRCm39) |
|
probably null |
Het |
Tspan8 |
C |
T |
10: 115,671,203 (GRCm39) |
T120M |
probably damaging |
Het |
Ttn |
T |
G |
2: 76,551,727 (GRCm39) |
D31275A |
probably damaging |
Het |
Vcl |
C |
A |
14: 21,046,038 (GRCm39) |
Q334K |
probably damaging |
Het |
Zfp94 |
G |
A |
7: 24,010,906 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Zkscan17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00544:Zkscan17
|
APN |
11 |
59,378,364 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02739:Zkscan17
|
APN |
11 |
59,394,352 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03000:Zkscan17
|
APN |
11 |
59,377,986 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03088:Zkscan17
|
APN |
11 |
59,378,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R1880:Zkscan17
|
UTSW |
11 |
59,378,455 (GRCm39) |
nonsense |
probably null |
|
R2005:Zkscan17
|
UTSW |
11 |
59,383,042 (GRCm39) |
missense |
probably damaging |
0.99 |
R3001:Zkscan17
|
UTSW |
11 |
59,378,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R3002:Zkscan17
|
UTSW |
11 |
59,378,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R3898:Zkscan17
|
UTSW |
11 |
59,394,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R4402:Zkscan17
|
UTSW |
11 |
59,393,848 (GRCm39) |
start codon destroyed |
possibly damaging |
0.89 |
R4754:Zkscan17
|
UTSW |
11 |
59,393,851 (GRCm39) |
nonsense |
probably null |
|
R4959:Zkscan17
|
UTSW |
11 |
59,394,538 (GRCm39) |
missense |
probably damaging |
0.99 |
R4978:Zkscan17
|
UTSW |
11 |
59,384,053 (GRCm39) |
missense |
possibly damaging |
0.58 |
R5399:Zkscan17
|
UTSW |
11 |
59,393,744 (GRCm39) |
critical splice donor site |
probably null |
|
R5762:Zkscan17
|
UTSW |
11 |
59,378,397 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5788:Zkscan17
|
UTSW |
11 |
59,378,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R6101:Zkscan17
|
UTSW |
11 |
59,394,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R6105:Zkscan17
|
UTSW |
11 |
59,394,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R6191:Zkscan17
|
UTSW |
11 |
59,393,820 (GRCm39) |
missense |
probably damaging |
0.99 |
R8098:Zkscan17
|
UTSW |
11 |
59,394,410 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8161:Zkscan17
|
UTSW |
11 |
59,393,770 (GRCm39) |
missense |
probably benign |
0.08 |
R8210:Zkscan17
|
UTSW |
11 |
59,394,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R9489:Zkscan17
|
UTSW |
11 |
59,378,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-02-04 |