Incidental Mutation 'IGL02711:Zscan18'
ID |
304550 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zscan18
|
Ensembl Gene |
ENSMUSG00000070822 |
Gene Name |
zinc finger and SCAN domain containing 18 |
Synonyms |
EG232875 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
IGL02711
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
12502017-12537562 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to T
at 12509044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046245]
[ENSMUST00000210650]
[ENSMUST00000211392]
|
AlphaFold |
E9PUD6 |
Predicted Effect |
unknown
Transcript: ENSMUST00000046245
AA Change: T152K
|
SMART Domains |
Protein: ENSMUSP00000047088 Gene: ENSMUSG00000070822 AA Change: T152K
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
low complexity region
|
72 |
102 |
N/A |
INTRINSIC |
low complexity region
|
118 |
132 |
N/A |
INTRINSIC |
low complexity region
|
134 |
154 |
N/A |
INTRINSIC |
internal_repeat_2
|
159 |
204 |
6.76e-5 |
PROSPERO |
internal_repeat_1
|
197 |
221 |
2.66e-6 |
PROSPERO |
low complexity region
|
225 |
256 |
N/A |
INTRINSIC |
low complexity region
|
262 |
310 |
N/A |
INTRINSIC |
low complexity region
|
312 |
335 |
N/A |
INTRINSIC |
internal_repeat_1
|
353 |
377 |
2.66e-6 |
PROSPERO |
SCAN
|
397 |
509 |
1.16e-37 |
SMART |
ZnF_C2H2
|
776 |
798 |
2.24e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209869
|
Predicted Effect |
unknown
Transcript: ENSMUST00000210650
AA Change: T152K
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210891
|
Predicted Effect |
unknown
Transcript: ENSMUST00000211392
AA Change: T152K
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211665
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
A |
T |
5: 8,773,245 (GRCm39) |
|
probably null |
Het |
Adamts10 |
T |
A |
17: 33,757,246 (GRCm39) |
M400K |
probably damaging |
Het |
Adamts17 |
G |
A |
7: 66,701,788 (GRCm39) |
|
probably benign |
Het |
Adh5 |
A |
G |
3: 138,160,434 (GRCm39) |
K323E |
probably damaging |
Het |
Angptl2 |
T |
C |
2: 33,118,255 (GRCm39) |
W10R |
probably benign |
Het |
Arhgap15 |
T |
C |
2: 44,006,674 (GRCm39) |
F264L |
possibly damaging |
Het |
Atp6v1g3 |
T |
A |
1: 138,211,419 (GRCm39) |
L33Q |
probably damaging |
Het |
Baz2b |
A |
T |
2: 59,747,849 (GRCm39) |
|
probably benign |
Het |
Capn11 |
A |
G |
17: 45,943,341 (GRCm39) |
F611S |
probably damaging |
Het |
Cep152 |
T |
A |
2: 125,405,862 (GRCm39) |
T1557S |
possibly damaging |
Het |
Cep76 |
A |
T |
18: 67,771,406 (GRCm39) |
S75R |
probably benign |
Het |
Cps1 |
A |
G |
1: 67,251,676 (GRCm39) |
|
probably benign |
Het |
Dbf4 |
G |
T |
5: 8,458,235 (GRCm39) |
A199E |
probably benign |
Het |
Gldc |
C |
T |
19: 30,122,546 (GRCm39) |
|
probably null |
Het |
Hspa14 |
G |
A |
2: 3,503,557 (GRCm39) |
A117V |
probably benign |
Het |
Igkv4-80 |
G |
A |
6: 68,993,801 (GRCm39) |
P30L |
probably damaging |
Het |
Itga2b |
A |
T |
11: 102,356,551 (GRCm39) |
W292R |
possibly damaging |
Het |
Kansl1 |
A |
T |
11: 104,226,401 (GRCm39) |
S982T |
probably damaging |
Het |
Klhdc7b |
A |
T |
15: 89,272,246 (GRCm39) |
K1043* |
probably null |
Het |
Kmt2a |
A |
T |
9: 44,735,820 (GRCm39) |
|
probably benign |
Het |
Krt86 |
T |
C |
15: 101,371,543 (GRCm39) |
Y38H |
probably damaging |
Het |
Lingo4 |
T |
C |
3: 94,310,700 (GRCm39) |
I546T |
probably benign |
Het |
Lrrk1 |
A |
G |
7: 65,980,515 (GRCm39) |
S222P |
probably damaging |
Het |
Lrrk2 |
T |
C |
15: 91,570,025 (GRCm39) |
V178A |
possibly damaging |
Het |
Maml2 |
T |
C |
9: 13,531,359 (GRCm39) |
V191A |
probably benign |
Het |
Msh3 |
T |
C |
13: 92,487,819 (GRCm39) |
T133A |
probably damaging |
Het |
Nck1 |
T |
C |
9: 100,390,673 (GRCm39) |
D12G |
probably damaging |
Het |
Nox4 |
T |
C |
7: 87,046,076 (GRCm39) |
Y572H |
probably damaging |
Het |
Nqo1 |
A |
T |
8: 108,119,563 (GRCm39) |
L30Q |
probably damaging |
Het |
Or5ak24 |
A |
T |
2: 85,261,083 (GRCm39) |
V30E |
probably damaging |
Het |
Oxr1 |
A |
G |
15: 41,517,067 (GRCm39) |
|
probably benign |
Het |
Pcare |
T |
C |
17: 72,056,377 (GRCm39) |
D1100G |
probably benign |
Het |
Pcdhb10 |
A |
C |
18: 37,545,779 (GRCm39) |
D285A |
possibly damaging |
Het |
Pclo |
A |
G |
5: 14,572,322 (GRCm39) |
N569S |
unknown |
Het |
Ppfibp1 |
T |
A |
6: 146,927,736 (GRCm39) |
Y794* |
probably null |
Het |
Ripor3 |
T |
G |
2: 167,848,200 (GRCm39) |
|
probably benign |
Het |
Rpe65 |
C |
A |
3: 159,328,514 (GRCm39) |
H441N |
possibly damaging |
Het |
St14 |
A |
G |
9: 31,001,196 (GRCm39) |
V845A |
probably benign |
Het |
Tmem116 |
T |
A |
5: 121,625,804 (GRCm39) |
|
probably benign |
Het |
Tnfrsf11b |
A |
T |
15: 54,119,532 (GRCm39) |
D147E |
probably benign |
Het |
Ttn |
C |
A |
2: 76,560,466 (GRCm39) |
G27566* |
probably null |
Het |
|
Other mutations in Zscan18 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01930:Zscan18
|
APN |
7 |
12,509,275 (GRCm39) |
unclassified |
probably benign |
|
IGL02152:Zscan18
|
APN |
7 |
12,509,223 (GRCm39) |
unclassified |
probably benign |
|
IGL02236:Zscan18
|
APN |
7 |
12,503,251 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02591:Zscan18
|
APN |
7 |
12,509,206 (GRCm39) |
unclassified |
probably benign |
|
IGL02619:Zscan18
|
APN |
7 |
12,508,793 (GRCm39) |
unclassified |
probably benign |
|
IGL03397:Zscan18
|
APN |
7 |
12,507,488 (GRCm39) |
missense |
probably damaging |
0.97 |
R0014:Zscan18
|
UTSW |
7 |
12,503,344 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0465:Zscan18
|
UTSW |
7 |
12,509,413 (GRCm39) |
unclassified |
probably benign |
|
R0548:Zscan18
|
UTSW |
7 |
12,508,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R1506:Zscan18
|
UTSW |
7 |
12,508,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R1725:Zscan18
|
UTSW |
7 |
12,504,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R2323:Zscan18
|
UTSW |
7 |
12,509,386 (GRCm39) |
unclassified |
probably benign |
|
R5034:Zscan18
|
UTSW |
7 |
12,508,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R5180:Zscan18
|
UTSW |
7 |
12,509,216 (GRCm39) |
unclassified |
probably benign |
|
R5579:Zscan18
|
UTSW |
7 |
12,509,308 (GRCm39) |
unclassified |
probably benign |
|
R5635:Zscan18
|
UTSW |
7 |
12,504,791 (GRCm39) |
missense |
probably benign |
0.00 |
R5708:Zscan18
|
UTSW |
7 |
12,508,383 (GRCm39) |
missense |
probably benign |
0.01 |
R6088:Zscan18
|
UTSW |
7 |
12,509,125 (GRCm39) |
unclassified |
probably benign |
|
R6320:Zscan18
|
UTSW |
7 |
12,509,147 (GRCm39) |
unclassified |
probably benign |
|
R7048:Zscan18
|
UTSW |
7 |
12,508,671 (GRCm39) |
unclassified |
probably benign |
|
R7610:Zscan18
|
UTSW |
7 |
12,503,237 (GRCm39) |
missense |
probably damaging |
0.98 |
R7683:Zscan18
|
UTSW |
7 |
12,503,532 (GRCm39) |
nonsense |
probably null |
|
R8287:Zscan18
|
UTSW |
7 |
12,509,298 (GRCm39) |
missense |
unknown |
|
R8674:Zscan18
|
UTSW |
7 |
12,504,827 (GRCm39) |
splice site |
probably benign |
|
R8735:Zscan18
|
UTSW |
7 |
12,503,625 (GRCm39) |
missense |
probably benign |
0.16 |
R8928:Zscan18
|
UTSW |
7 |
12,509,120 (GRCm39) |
nonsense |
probably null |
|
R9028:Zscan18
|
UTSW |
7 |
12,506,116 (GRCm39) |
intron |
probably benign |
|
R9290:Zscan18
|
UTSW |
7 |
12,508,054 (GRCm39) |
missense |
probably damaging |
0.99 |
R9342:Zscan18
|
UTSW |
7 |
12,505,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R9471:Zscan18
|
UTSW |
7 |
12,508,343 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9522:Zscan18
|
UTSW |
7 |
12,503,297 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9631:Zscan18
|
UTSW |
7 |
12,505,657 (GRCm39) |
missense |
possibly damaging |
0.90 |
RF055:Zscan18
|
UTSW |
7 |
12,508,352 (GRCm39) |
small deletion |
probably benign |
|
Z1088:Zscan18
|
UTSW |
7 |
12,509,020 (GRCm39) |
unclassified |
probably benign |
|
Z1088:Zscan18
|
UTSW |
7 |
12,508,994 (GRCm39) |
missense |
probably benign |
0.18 |
|
Posted On |
2015-04-16 |