Incidental Mutation 'R8287:Zscan18'
| ID |
638488 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zscan18
|
| Ensembl Gene |
ENSMUSG00000070822 |
| Gene Name |
zinc finger and SCAN domain containing 18 |
| Synonyms |
EG232875 |
| MMRRC Submission |
067709-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R8287 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12502017-12537562 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 12509298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 67
(K67N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047088
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046245]
[ENSMUST00000210650]
[ENSMUST00000211392]
|
| AlphaFold |
E9PUD6 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000046245
AA Change: K67N
|
| SMART Domains |
Protein: ENSMUSP00000047088
Gene: ENSMUSG00000070822
AA Change: K67N
| 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 |
unknown
Transcript: ENSMUST00000210650
AA Change: K67N
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210891
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000211392
AA Change: K67N
|
| Meta Mutation Damage Score |
0.0852 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (27/27) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
A |
G |
12: 80,220,852 (GRCm39) |
|
probably null |
Het |
| Apcs |
T |
G |
1: 172,721,814 (GRCm39) |
L177F |
possibly damaging |
Het |
| Arsa |
G |
T |
15: 89,357,593 (GRCm39) |
H457N |
probably benign |
Het |
| Atg10 |
A |
T |
13: 91,170,799 (GRCm39) |
|
probably benign |
Het |
| Blnk |
T |
C |
19: 40,917,735 (GRCm39) |
Y419C |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,375,225 (GRCm39) |
D417G |
probably benign |
Het |
| Cntnap4 |
T |
C |
8: 113,585,775 (GRCm39) |
S1133P |
probably damaging |
Het |
| Cops2 |
T |
A |
2: 125,701,037 (GRCm39) |
|
probably benign |
Het |
| Cyp2c40 |
T |
A |
19: 39,755,899 (GRCm39) |
M472L |
probably damaging |
Het |
| Dlg5 |
T |
A |
14: 24,214,453 (GRCm39) |
Q379L |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,534,560 (GRCm39) |
I2019V |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,866,157 (GRCm39) |
Y1241C |
unknown |
Het |
| Dock8 |
T |
C |
19: 25,107,825 (GRCm39) |
Y852H |
probably damaging |
Het |
| Fcrlb |
T |
A |
1: 170,739,653 (GRCm39) |
Y83F |
probably damaging |
Het |
| Foxj2 |
G |
A |
6: 122,805,226 (GRCm39) |
A33T |
possibly damaging |
Het |
| Gcnt2 |
T |
C |
13: 41,014,108 (GRCm39) |
F93S |
probably damaging |
Het |
| Gm14180 |
A |
G |
11: 99,625,068 (GRCm39) |
S17P |
unknown |
Het |
| Gucy1b2 |
T |
C |
14: 62,649,265 (GRCm39) |
Q437R |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,299,430 (GRCm39) |
D707G |
probably benign |
Het |
| Ncam2 |
A |
G |
16: 81,323,883 (GRCm39) |
Q509R |
probably benign |
Het |
| Npsr1 |
T |
C |
9: 24,201,258 (GRCm39) |
V214A |
probably damaging |
Het |
| Or8g51 |
T |
C |
9: 38,609,633 (GRCm39) |
T14A |
probably benign |
Het |
| Slc50a1 |
G |
A |
3: 89,177,710 (GRCm39) |
|
probably null |
Het |
| Speg |
T |
A |
1: 75,398,880 (GRCm39) |
M2109K |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,660,129 (GRCm39) |
H722R |
probably benign |
Het |
| Vmn2r19 |
A |
G |
6: 123,308,588 (GRCm39) |
N555S |
probably damaging |
Het |
| Xrcc1 |
G |
A |
7: 24,271,703 (GRCm39) |
R562H |
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 |
|
|
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 |
|
|
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'- AGGTTCTTCCTGCTGCATGG -3'
(R):5'- GCAGTTATATTTCTGTGGCAGC -3'
Sequencing Primer
(F):5'- TGCTGCATGGGTACATCC -3'
(R):5'- GGTGTTAGCCTCTCCTAGAAGC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation