Incidental Mutation 'R4545:Zscan12'
| ID |
333732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zscan12
|
| Ensembl Gene |
ENSMUSG00000036721 |
| Gene Name |
zinc finger and SCAN domain containing 12 |
| Synonyms |
Zfp96 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4545 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
21546990-21556459 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21550875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 165
(K165E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053293]
[ENSMUST00000099720]
[ENSMUST00000225545]
|
| AlphaFold |
Q9Z1D7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053293
AA Change: K165E
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000058904
Gene: ENSMUSG00000036721
AA Change: K165E
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
42 |
154 |
2.52e-74 |
SMART |
|
ZnF_C2H2
|
269 |
291 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
297 |
319 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
325 |
347 |
1.22e-4 |
SMART |
|
ZnF_C2H2
|
353 |
375 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
381 |
403 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
409 |
431 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
455 |
477 |
2.43e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099720
AA Change: K165E
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097308
Gene: ENSMUSG00000036721
AA Change: K165E
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
42 |
154 |
2.52e-74 |
SMART |
|
ZnF_C2H2
|
269 |
291 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
297 |
319 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
325 |
347 |
1.22e-4 |
SMART |
|
ZnF_C2H2
|
353 |
375 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
381 |
403 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
409 |
431 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
455 |
477 |
2.43e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225545
AA Change: K165E
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.0649 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
A |
C |
13: 4,557,843 (GRCm39) |
V201G |
probably damaging |
Het |
| Atf7 |
A |
G |
15: 102,442,762 (GRCm39) |
V449A |
probably benign |
Het |
| Ccr1 |
G |
A |
9: 123,764,437 (GRCm39) |
A31V |
probably benign |
Het |
| Chrna6 |
A |
T |
8: 27,896,711 (GRCm39) |
S389T |
probably benign |
Het |
| Clic6 |
C |
T |
16: 92,289,045 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
G |
A |
13: 93,228,426 (GRCm39) |
R2221* |
probably null |
Het |
| Coq8b |
G |
T |
7: 26,932,930 (GRCm39) |
C13F |
probably benign |
Het |
| Cspg4 |
T |
A |
9: 56,795,913 (GRCm39) |
L1216Q |
possibly damaging |
Het |
| Decr1 |
C |
A |
4: 15,930,979 (GRCm39) |
V118F |
probably damaging |
Het |
| Dlec1 |
A |
T |
9: 118,957,146 (GRCm39) |
I796F |
probably damaging |
Het |
| Dnajc11 |
T |
A |
4: 152,064,398 (GRCm39) |
D516E |
probably damaging |
Het |
| Dock8 |
G |
A |
19: 25,165,722 (GRCm39) |
V1869M |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,227,819 (GRCm39) |
D1982G |
probably damaging |
Het |
| Gnptab |
G |
A |
10: 88,250,457 (GRCm39) |
D190N |
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,385,913 (GRCm39) |
K22E |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,852,381 (GRCm39) |
*1579W |
probably null |
Het |
| Ica1l |
A |
G |
1: 60,052,977 (GRCm39) |
|
probably null |
Het |
| Ift122 |
T |
A |
6: 115,867,549 (GRCm39) |
L433Q |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,412,315 (GRCm39) |
|
probably null |
Het |
| Klra13-ps |
T |
C |
6: 130,268,232 (GRCm39) |
|
noncoding transcript |
Het |
| Mndal |
A |
T |
1: 173,703,230 (GRCm39) |
Y58* |
probably null |
Het |
| Mvb12b |
G |
C |
2: 33,717,712 (GRCm39) |
P172R |
possibly damaging |
Het |
| Ncapg |
T |
C |
5: 45,828,554 (GRCm39) |
F102L |
probably damaging |
Het |
| Or1e30 |
T |
C |
11: 73,677,992 (GRCm39) |
V76A |
probably damaging |
Het |
| Or5an11 |
T |
C |
19: 12,246,188 (GRCm39) |
V198A |
possibly damaging |
Het |
| Or5b97 |
T |
A |
19: 12,878,632 (GRCm39) |
K171* |
probably null |
Het |
| Pde8a |
A |
T |
7: 80,977,847 (GRCm39) |
R713S |
probably damaging |
Het |
| Rbks |
T |
C |
5: 31,781,912 (GRCm39) |
N296S |
probably benign |
Het |
| Sema3c |
G |
A |
5: 17,899,770 (GRCm39) |
V421I |
probably benign |
Het |
| Tm9sf1 |
A |
G |
14: 55,875,565 (GRCm39) |
V393A |
possibly damaging |
Het |
| Tubgcp2 |
G |
A |
7: 139,575,984 (GRCm39) |
P893L |
possibly damaging |
Het |
| Uba52rt |
C |
T |
4: 3,973,244 (GRCm39) |
R106H |
probably benign |
Het |
| Vnn3 |
G |
A |
10: 23,732,224 (GRCm39) |
R158H |
probably benign |
Het |
| Zfa-ps |
G |
T |
10: 52,421,032 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp414 |
T |
C |
17: 33,850,622 (GRCm39) |
|
probably benign |
Het |
| Zfp810 |
G |
A |
9: 22,190,041 (GRCm39) |
T289I |
probably damaging |
Het |
| Zfp819 |
G |
T |
7: 43,267,209 (GRCm39) |
R488L |
probably damaging |
Het |
| Zfp942 |
C |
T |
17: 22,147,285 (GRCm39) |
G448D |
probably benign |
Het |
|
| Other mutations in Zscan12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02864:Zscan12
|
APN |
13 |
21,552,730 (GRCm39) |
missense |
probably benign |
0.02 |
|
PIT4480001:Zscan12
|
UTSW |
13 |
21,552,744 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0122:Zscan12
|
UTSW |
13 |
21,553,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1605:Zscan12
|
UTSW |
13 |
21,550,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1639:Zscan12
|
UTSW |
13 |
21,553,156 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2182:Zscan12
|
UTSW |
13 |
21,552,961 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2931:Zscan12
|
UTSW |
13 |
21,548,187 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3930:Zscan12
|
UTSW |
13 |
21,552,800 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4368:Zscan12
|
UTSW |
13 |
21,553,553 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4461:Zscan12
|
UTSW |
13 |
21,550,789 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5353:Zscan12
|
UTSW |
13 |
21,548,178 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6580:Zscan12
|
UTSW |
13 |
21,553,328 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6734:Zscan12
|
UTSW |
13 |
21,552,966 (GRCm39) |
nonsense |
probably null |
|
|
R7462:Zscan12
|
UTSW |
13 |
21,553,457 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7505:Zscan12
|
UTSW |
13 |
21,552,756 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7822:Zscan12
|
UTSW |
13 |
21,553,374 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8028:Zscan12
|
UTSW |
13 |
21,553,022 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8056:Zscan12
|
UTSW |
13 |
21,553,492 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8161:Zscan12
|
UTSW |
13 |
21,547,897 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8784:Zscan12
|
UTSW |
13 |
21,547,991 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8794:Zscan12
|
UTSW |
13 |
21,547,847 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9716:Zscan12
|
UTSW |
13 |
21,547,938 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTCCCTGGATTGAGTGAC -3'
(R):5'- TGCATGTCAACACGTGAGC -3'
Sequencing Primer
(F):5'- CGATCGAGACATGCTGATTGC -3'
(R):5'- CAACACGTGAGCATCAGATTTCTGG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation