Incidental Mutation 'IGL03397:Zscan18'
| ID |
421310 |
| 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 # |
IGL03397
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
12502017-12537562 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 12507488 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 497
(S497T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046245]
[ENSMUST00000210650]
[ENSMUST00000211392]
|
| AlphaFold |
E9PUD6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046245
AA Change: S497T
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000047088
Gene: ENSMUSG00000070822
AA Change: S497T
| 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 |
probably damaging
Transcript: ENSMUST00000210650
AA Change: S497T
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210891
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211392
AA Change: S497T
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211665
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
T |
19: 43,772,743 (GRCm39) |
Y51F |
probably benign |
Het |
| Ankrd42 |
G |
A |
7: 92,268,762 (GRCm39) |
L194F |
probably damaging |
Het |
| Ccdc81 |
G |
T |
7: 89,546,036 (GRCm39) |
T56N |
probably damaging |
Het |
| Cdh10 |
T |
C |
15: 18,964,114 (GRCm39) |
I92T |
probably damaging |
Het |
| Csta3 |
A |
T |
16: 36,033,984 (GRCm39) |
I55F |
probably damaging |
Het |
| Eif2b4 |
A |
G |
5: 31,344,997 (GRCm39) |
I550T |
probably damaging |
Het |
| Epb41l3 |
A |
G |
17: 69,555,687 (GRCm39) |
Y304C |
probably damaging |
Het |
| Gm10244 |
A |
G |
6: 39,397,740 (GRCm39) |
|
probably benign |
Het |
| H2bc14 |
T |
C |
13: 21,906,551 (GRCm39) |
I95T |
possibly damaging |
Het |
| Lrrc74a |
T |
C |
12: 86,805,312 (GRCm39) |
V378A |
probably benign |
Het |
| Mcm6 |
C |
T |
1: 128,272,039 (GRCm39) |
D453N |
probably damaging |
Het |
| Mctp2 |
A |
G |
7: 71,909,025 (GRCm39) |
L96P |
probably damaging |
Het |
| Nlrp5 |
G |
A |
7: 23,112,759 (GRCm39) |
V139M |
probably damaging |
Het |
| Nrcam |
T |
G |
12: 44,606,540 (GRCm39) |
S429A |
probably damaging |
Het |
| Or5an11 |
C |
A |
19: 12,245,866 (GRCm39) |
Q91K |
probably benign |
Het |
| Pdgfrb |
A |
T |
18: 61,212,753 (GRCm39) |
T886S |
probably benign |
Het |
| Rapgef5 |
T |
A |
12: 117,712,176 (GRCm39) |
F754L |
probably damaging |
Het |
| Sbf1 |
T |
C |
15: 89,172,924 (GRCm39) |
K1863R |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,843,212 (GRCm39) |
T751A |
probably benign |
Het |
| Six3 |
G |
T |
17: 85,929,074 (GRCm39) |
R136L |
probably damaging |
Het |
| Slc6a12 |
A |
G |
6: 121,334,004 (GRCm39) |
D280G |
probably damaging |
Het |
| Sox2 |
A |
G |
3: 34,704,686 (GRCm39) |
D41G |
probably damaging |
Het |
| Stxbp4 |
A |
T |
11: 90,431,060 (GRCm39) |
L417M |
probably damaging |
Het |
| Tcam1 |
A |
G |
11: 106,176,212 (GRCm39) |
I313V |
probably benign |
Het |
| Tex55 |
G |
A |
16: 38,649,055 (GRCm39) |
P18L |
probably damaging |
Het |
| Tgm2 |
T |
C |
2: 157,962,178 (GRCm39) |
Y547C |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 129,523,901 (GRCm39) |
R312G |
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,678,394 (GRCm39) |
|
probably benign |
Het |
| Usp39 |
A |
G |
6: 72,313,296 (GRCm39) |
M298T |
possibly damaging |
Het |
| Vmn2r85 |
C |
T |
10: 130,261,263 (GRCm39) |
C358Y |
probably damaging |
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 |
|
|
IGL02711:Zscan18
|
APN |
7 |
12,509,044 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation