Incidental Mutation 'IGL00544:Zkscan17'
| ID |
4592 |
| 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 # |
IGL00544
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
59376346-59397466 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59378364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 273
(E273G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013262]
[ENSMUST00000101150]
|
| AlphaFold |
Q5SXI5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013262
AA Change: E429G
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000013262
Gene: ENSMUSG00000020472
AA Change: E429G
| 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 benign
Transcript: ENSMUST00000101150
AA Change: E273G
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000098709
Gene: ENSMUSG00000020472
AA Change: E273G
| 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: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
C |
2: 69,115,025 (GRCm39) |
H640Q |
possibly damaging |
Het |
| Acaca |
T |
C |
11: 84,169,743 (GRCm39) |
Y1138H |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,597,986 (GRCm39) |
S1208P |
probably damaging |
Het |
| Cabyr |
A |
G |
18: 12,877,667 (GRCm39) |
N32D |
probably damaging |
Het |
| Col28a1 |
T |
C |
6: 8,162,228 (GRCm39) |
|
probably null |
Het |
| Heatr3 |
A |
G |
8: 88,868,367 (GRCm39) |
E39G |
possibly damaging |
Het |
| Mmp27 |
T |
C |
9: 7,573,505 (GRCm39) |
|
probably benign |
Het |
| Ncapd3 |
T |
G |
9: 26,974,634 (GRCm39) |
I702R |
possibly damaging |
Het |
| Peak1 |
T |
C |
9: 56,167,262 (GRCm39) |
E222G |
probably damaging |
Het |
| Phldb2 |
C |
A |
16: 45,645,674 (GRCm39) |
R302S |
probably damaging |
Het |
| Serpina1b |
T |
A |
12: 103,695,555 (GRCm39) |
I329F |
possibly damaging |
Het |
| Tpcn1 |
A |
G |
5: 120,683,370 (GRCm39) |
V452A |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,575,711 (GRCm39) |
Q25061K |
probably damaging |
Het |
|
| Other mutations in Zkscan17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01755:Zkscan17
|
APN |
11 |
59,378,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2012-04-20 |
Incidental Mutation