Incidental Mutation 'R2323:Zscan18'
ID |
244805 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zscan18
|
Ensembl Gene |
ENSMUSG00000070822 |
Gene Name |
zinc finger and SCAN domain containing 18 |
Synonyms |
EG232875 |
MMRRC Submission |
040314-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R2323 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
12502017-12537562 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 12509386 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: E38G
|
SMART Domains |
Protein: ENSMUSP00000047088 Gene: ENSMUSG00000070822 AA Change: E38G
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: E38G
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210891
|
Predicted Effect |
unknown
Transcript: ENSMUST00000211392
AA Change: E38G
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211665
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
G |
T |
2: 25,335,187 (GRCm39) |
M2008I |
probably benign |
Het |
Adgrv1 |
A |
G |
13: 81,743,298 (GRCm39) |
S68P |
probably damaging |
Het |
Albfm1 |
T |
A |
5: 90,732,711 (GRCm39) |
Y507* |
probably null |
Het |
Anks3 |
T |
C |
16: 4,768,634 (GRCm39) |
|
probably null |
Het |
Asap2 |
T |
C |
12: 21,253,969 (GRCm39) |
I160T |
probably damaging |
Het |
Asb15 |
T |
A |
6: 24,556,600 (GRCm39) |
F32I |
probably benign |
Het |
Catip |
A |
T |
1: 74,402,437 (GRCm39) |
M103L |
probably benign |
Het |
Cela2a |
G |
C |
4: 141,553,390 (GRCm39) |
|
probably benign |
Het |
Crebrf |
T |
C |
17: 26,982,581 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
T |
C |
5: 124,819,064 (GRCm39) |
M450T |
probably damaging |
Het |
Dst |
T |
C |
1: 34,267,518 (GRCm39) |
S5165P |
possibly damaging |
Het |
Esrp2 |
T |
A |
8: 106,860,934 (GRCm39) |
D196V |
probably benign |
Het |
Hmox2 |
A |
T |
16: 4,583,720 (GRCm39) |
K263* |
probably null |
Het |
Ints10 |
A |
G |
8: 69,271,997 (GRCm39) |
H566R |
probably benign |
Het |
Ints12 |
G |
A |
3: 132,815,126 (GRCm39) |
M444I |
possibly damaging |
Het |
Liph |
A |
G |
16: 21,802,754 (GRCm39) |
V105A |
probably damaging |
Het |
Myo1e |
T |
A |
9: 70,286,040 (GRCm39) |
Y941* |
probably null |
Het |
Myo7b |
T |
C |
18: 32,104,398 (GRCm39) |
E1450G |
probably damaging |
Het |
Myt1 |
G |
T |
2: 181,448,350 (GRCm39) |
A594S |
probably damaging |
Het |
Npas3 |
T |
A |
12: 54,115,129 (GRCm39) |
Y666N |
probably damaging |
Het |
Npsr1 |
A |
G |
9: 24,211,732 (GRCm39) |
K240E |
probably damaging |
Het |
Or52h7 |
T |
C |
7: 104,213,826 (GRCm39) |
F133L |
probably benign |
Het |
Rtkn2 |
A |
G |
10: 67,837,764 (GRCm39) |
I102M |
probably damaging |
Het |
Rundc1 |
T |
C |
11: 101,316,101 (GRCm39) |
F58L |
probably damaging |
Het |
Snrpc |
T |
G |
17: 28,066,948 (GRCm39) |
M91R |
unknown |
Het |
Tgfbr2 |
T |
C |
9: 115,939,212 (GRCm39) |
K205R |
possibly damaging |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tnfrsf21 |
C |
A |
17: 43,396,420 (GRCm39) |
S568* |
probably null |
Het |
Tulp1 |
C |
T |
17: 28,581,456 (GRCm39) |
G239D |
probably damaging |
Het |
Vmn1r234 |
T |
C |
17: 21,449,965 (GRCm39) |
I293T |
probably benign |
Het |
Vmn1r26 |
T |
C |
6: 57,985,842 (GRCm39) |
K116E |
probably damaging |
Het |
Vmn2r98 |
T |
A |
17: 19,286,081 (GRCm39) |
I193K |
probably benign |
Het |
Wnk4 |
T |
A |
11: 101,159,307 (GRCm39) |
S575T |
probably damaging |
Het |
Zfp558 |
A |
T |
9: 18,380,573 (GRCm39) |
|
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 |
|
IGL02711:Zscan18
|
APN |
7 |
12,509,044 (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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGCAGTTGGACAGACTCTTCC -3'
(R):5'- GGTACTGCTGACCTTTCCTG -3'
Sequencing Primer
(F):5'- GACAGACTCTTCCTCTTGACTGGG -3'
(R):5'- GTACTGCTGACCTTTCCTGGTTAC -3'
|
Posted On |
2014-10-30 |