Incidental Mutation 'R8674:Zscan18'
ID |
673225 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zscan18
|
Ensembl Gene |
ENSMUSG00000070822 |
Gene Name |
zinc finger and SCAN domain containing 18 |
Synonyms |
EG232875 |
MMRRC Submission |
068529-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R8674 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
12502017-12537562 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 12504827 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148239
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046245]
[ENSMUST00000210650]
[ENSMUST00000211392]
|
AlphaFold |
E9PUD6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046245
|
SMART Domains |
Protein: ENSMUSP00000047088 Gene: ENSMUSG00000070822
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 |
probably benign
Transcript: ENSMUST00000210650
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210891
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211392
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
100% (38/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447C04Rik |
T |
C |
12: 72,956,696 (GRCm39) |
I165V |
probably benign |
Het |
Adgrg1 |
A |
T |
8: 95,727,526 (GRCm39) |
|
probably benign |
Het |
Ahnak |
T |
C |
19: 8,983,360 (GRCm39) |
I1548T |
probably damaging |
Het |
Alox12b |
A |
G |
11: 69,054,801 (GRCm39) |
Y268C |
possibly damaging |
Het |
Chd8 |
T |
C |
14: 52,450,463 (GRCm39) |
D1465G |
probably damaging |
Het |
Csgalnact1 |
A |
G |
8: 68,826,268 (GRCm39) |
V350A |
possibly damaging |
Het |
Cyp4a29 |
A |
T |
4: 115,106,882 (GRCm39) |
I180F |
probably benign |
Het |
Dcaf1 |
T |
A |
9: 106,740,896 (GRCm39) |
D1294E |
probably damaging |
Het |
Defb47 |
T |
C |
14: 63,235,579 (GRCm39) |
L10P |
possibly damaging |
Het |
Gpr179 |
T |
C |
11: 97,225,873 (GRCm39) |
E2094G |
probably benign |
Het |
Gtse1 |
C |
A |
15: 85,746,376 (GRCm39) |
P64Q |
probably damaging |
Het |
Gys2 |
A |
G |
6: 142,376,048 (GRCm39) |
V538A |
probably benign |
Het |
Hmgxb3 |
G |
A |
18: 61,269,303 (GRCm39) |
S993L |
probably benign |
Het |
Lgals8 |
A |
T |
13: 12,462,117 (GRCm39) |
F238I |
probably damaging |
Het |
Ltn1 |
A |
C |
16: 87,195,673 (GRCm39) |
D1284E |
probably benign |
Het |
Myh10 |
A |
G |
11: 68,705,257 (GRCm39) |
E1925G |
probably damaging |
Het |
Nck1 |
T |
C |
9: 100,390,580 (GRCm39) |
N43S |
probably damaging |
Het |
Nsun5 |
C |
A |
5: 135,400,394 (GRCm39) |
T145N |
probably damaging |
Het |
Or10d1 |
T |
C |
9: 39,484,249 (GRCm39) |
Y102C |
probably damaging |
Het |
Or10d3 |
A |
G |
9: 39,461,675 (GRCm39) |
F164S |
probably damaging |
Het |
Or10x4 |
A |
G |
1: 174,219,258 (GRCm39) |
T208A |
probably damaging |
Het |
Or4c103 |
T |
A |
2: 88,513,774 (GRCm39) |
T101S |
probably benign |
Het |
Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
Ppp4r4 |
A |
G |
12: 103,562,720 (GRCm39) |
E563G |
probably damaging |
Het |
Pramel42 |
T |
C |
5: 94,685,605 (GRCm39) |
C422R |
probably damaging |
Het |
Rab11fip5 |
T |
A |
6: 85,318,910 (GRCm39) |
M660L |
probably benign |
Het |
Rbm47 |
T |
A |
5: 66,176,742 (GRCm39) |
N527I |
possibly damaging |
Het |
Rpl12 |
T |
A |
2: 32,852,122 (GRCm39) |
|
probably benign |
Het |
Slc22a14 |
C |
A |
9: 119,007,467 (GRCm39) |
W314L |
probably null |
Het |
Spen |
C |
T |
4: 141,197,681 (GRCm39) |
A3396T |
probably benign |
Het |
Sphkap |
A |
G |
1: 83,255,565 (GRCm39) |
V728A |
probably benign |
Het |
Spint4 |
T |
A |
2: 164,542,902 (GRCm39) |
|
probably null |
Het |
Sptbn1 |
A |
G |
11: 30,089,352 (GRCm39) |
S637P |
possibly damaging |
Het |
Trpm7 |
T |
C |
2: 126,641,086 (GRCm39) |
|
probably benign |
Het |
Trrap |
C |
T |
5: 144,727,842 (GRCm39) |
T521I |
probably benign |
Het |
Vmn2r44 |
T |
C |
7: 8,380,822 (GRCm39) |
Y357C |
probably damaging |
Het |
Vwa2 |
A |
G |
19: 56,875,427 (GRCm39) |
D82G |
possibly damaging |
Het |
Zdhhc17 |
A |
G |
10: 110,785,540 (GRCm39) |
I424T |
probably benign |
Het |
Zmiz1 |
A |
G |
14: 25,647,410 (GRCm39) |
I409M |
probably benign |
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 |
|
R8287:Zscan18
|
UTSW |
7 |
12,509,298 (GRCm39) |
missense |
unknown |
|
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'- TCATTATGCTGCGAGAAGTAAGG -3'
(R):5'- TCAGCTTTCCAGGGGTTCTG -3'
Sequencing Primer
(F):5'- ATAAGGTCAAAGCTGGAGTCTTTG -3'
(R):5'- CAGCTTTCCAGGGGTTCTGACTAG -3'
|
Posted On |
2021-05-07 |