Incidental Mutation 'R0014:Zscan18'
| ID |
201325 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zscan18
|
| Ensembl Gene |
ENSMUSG00000070822 |
| Gene Name |
zinc finger and SCAN domain containing 18 |
| Synonyms |
EG232875 |
| MMRRC Submission |
038309-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R0014 (G1)
|
| Quality Score |
31 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12502017-12537562 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 12503344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 738
(F738L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046245]
[ENSMUST00000210650]
[ENSMUST00000211392]
|
| AlphaFold |
E9PUD6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046245
AA Change: F738L
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000047088
Gene: ENSMUSG00000070822
AA Change: F738L
| 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 |
possibly damaging
Transcript: ENSMUST00000210650
AA Change: F738L
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210891
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211392
AA Change: F738L
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211665
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
100% (68/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
A |
15: 60,791,581 (GRCm39) |
D92V |
probably damaging |
Het |
| Ankrd52 |
C |
A |
10: 128,222,321 (GRCm39) |
T583K |
probably benign |
Het |
| C3ar1 |
C |
T |
6: 122,827,810 (GRCm39) |
V136M |
probably damaging |
Het |
| Capg |
A |
G |
6: 72,538,026 (GRCm39) |
E304G |
possibly damaging |
Het |
| Ccdc125 |
A |
C |
13: 100,820,846 (GRCm39) |
N189T |
possibly damaging |
Het |
| Ccr5 |
T |
C |
9: 123,924,658 (GRCm39) |
F87S |
probably damaging |
Het |
| Cd2ap |
T |
C |
17: 43,118,819 (GRCm39) |
S540G |
probably benign |
Het |
| Cdt1 |
C |
T |
8: 123,299,305 (GRCm39) |
T529M |
probably benign |
Het |
| Cfap126 |
A |
G |
1: 170,953,353 (GRCm39) |
D49G |
possibly damaging |
Het |
| Cngb3 |
T |
C |
4: 19,396,685 (GRCm39) |
I346T |
probably benign |
Het |
| Degs1l |
T |
C |
1: 180,882,696 (GRCm39) |
F153L |
possibly damaging |
Het |
| Dgkd |
A |
G |
1: 87,809,603 (GRCm39) |
D97G |
probably damaging |
Het |
| Dgkg |
A |
T |
16: 22,384,114 (GRCm39) |
|
probably null |
Het |
| Dmbx1 |
G |
T |
4: 115,775,221 (GRCm39) |
T358K |
probably damaging |
Het |
| Dnai3 |
T |
C |
3: 145,787,178 (GRCm39) |
|
probably null |
Het |
| Epc2 |
A |
T |
2: 49,412,537 (GRCm39) |
K172* |
probably null |
Het |
| F2rl2 |
A |
T |
13: 95,837,417 (GRCm39) |
N154I |
probably damaging |
Het |
| Fyttd1 |
G |
A |
16: 32,725,924 (GRCm39) |
R175Q |
probably damaging |
Het |
| Gbp5 |
T |
A |
3: 142,212,496 (GRCm39) |
C395S |
probably damaging |
Het |
| Gen1 |
T |
C |
12: 11,291,642 (GRCm39) |
N716D |
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,882,304 (GRCm39) |
L163P |
probably damaging |
Het |
| Hmox2 |
T |
A |
16: 4,582,897 (GRCm39) |
L210Q |
probably damaging |
Het |
| Klhl28 |
T |
C |
12: 65,004,076 (GRCm39) |
T146A |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,686,248 (GRCm39) |
|
probably benign |
Het |
| Man2c1 |
T |
A |
9: 57,046,985 (GRCm39) |
M580K |
probably benign |
Het |
| Neb |
G |
A |
2: 52,177,168 (GRCm39) |
A1391V |
probably damaging |
Het |
| Nyap2 |
T |
C |
1: 81,219,666 (GRCm39) |
S563P |
probably damaging |
Het |
| Or2at4 |
T |
C |
7: 99,385,256 (GRCm39) |
V302A |
probably damaging |
Het |
| Or4k51 |
A |
G |
2: 111,585,119 (GRCm39) |
D175G |
probably damaging |
Het |
| Or55b3 |
A |
G |
7: 102,126,684 (GRCm39) |
I131T |
probably damaging |
Het |
| P2rx5 |
T |
A |
11: 73,057,888 (GRCm39) |
|
probably benign |
Het |
| Pclo |
C |
T |
5: 14,730,465 (GRCm39) |
|
probably benign |
Het |
| Pex1 |
G |
A |
5: 3,676,141 (GRCm39) |
|
probably benign |
Het |
| Polr2g |
A |
G |
19: 8,771,016 (GRCm39) |
I160T |
probably damaging |
Het |
| Psma8 |
A |
G |
18: 14,859,587 (GRCm39) |
I86V |
possibly damaging |
Het |
| Ptpdc1 |
G |
T |
13: 48,740,395 (GRCm39) |
Y345* |
probably null |
Het |
| Rcbtb1 |
G |
T |
14: 59,472,691 (GRCm39) |
K493N |
probably benign |
Het |
| Rexo2 |
A |
T |
9: 48,385,747 (GRCm39) |
S126T |
probably benign |
Het |
| Rorc |
T |
A |
3: 94,284,920 (GRCm39) |
|
probably benign |
Het |
| Slc7a2 |
T |
C |
8: 41,364,065 (GRCm39) |
L426P |
probably damaging |
Het |
| Syde1 |
T |
C |
10: 78,425,868 (GRCm39) |
T100A |
probably benign |
Het |
| Tbc1d20 |
A |
T |
2: 152,153,701 (GRCm39) |
Q342L |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,943,831 (GRCm39) |
T150A |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,897,970 (GRCm39) |
H317R |
probably damaging |
Het |
| Tut1 |
T |
A |
19: 8,939,811 (GRCm39) |
L265Q |
possibly damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,829,130 (GRCm39) |
F1029L |
possibly damaging |
Het |
| Wdr7 |
A |
G |
18: 64,037,172 (GRCm39) |
T1199A |
probably benign |
Het |
| Zfp458 |
A |
G |
13: 67,406,154 (GRCm39) |
V95A |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAACTGGAAGGGTTCCTAGCAGC -3'
(R):5'- TGCCGAGGGTGAAGATTCAAGC -3'
Sequencing Primer
(F):5'- ATAGCATGTCTCACTGCCATGAC -3'
(R):5'- GTGAAGATTCAAGCCCTGCC -3'
|
| Posted On |
2014-06-02 |
Incidental Mutation