Incidental Mutation 'R2931:Zscan12'
| ID |
264541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zscan12
|
| Ensembl Gene |
ENSMUSG00000036721 |
| Gene Name |
zinc finger and SCAN domain containing 12 |
| Synonyms |
Zfp96 |
| MMRRC Submission |
040513-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2931 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
21546990-21556459 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21548187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 123
(D123G)
|
| 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: D123G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000058904
Gene: ENSMUSG00000036721
AA Change: D123G
| 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: D123G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000097308
Gene: ENSMUSG00000036721
AA Change: D123G
| 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: D123G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
C |
T |
10: 10,318,246 (GRCm39) |
V193I |
possibly damaging |
Het |
| Asb2 |
T |
C |
12: 103,301,146 (GRCm39) |
D151G |
probably damaging |
Het |
| Cyp2c69 |
G |
A |
19: 39,837,927 (GRCm39) |
T385I |
probably damaging |
Het |
| Dhx15 |
G |
A |
5: 52,324,074 (GRCm39) |
P406L |
probably benign |
Het |
| Dido1 |
T |
C |
2: 180,303,446 (GRCm39) |
E1486G |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 942,992 (GRCm39) |
F1492L |
probably benign |
Het |
| Map2k4 |
A |
T |
11: 65,647,163 (GRCm39) |
N59K |
probably damaging |
Het |
| Myo18b |
A |
G |
5: 112,840,993 (GRCm39) |
S2267P |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,291,529 (GRCm39) |
D1136E |
probably benign |
Het |
| Otogl |
A |
T |
10: 107,655,865 (GRCm39) |
M1080K |
possibly damaging |
Het |
| Pirb |
A |
T |
7: 3,720,205 (GRCm39) |
H389Q |
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,908,500 (GRCm39) |
T1739A |
probably benign |
Het |
| Strip1 |
T |
A |
3: 107,532,975 (GRCm39) |
|
probably null |
Het |
| Trappc11 |
A |
T |
8: 47,956,977 (GRCm39) |
D816E |
probably damaging |
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 |
|
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 |
|
R4545:Zscan12
|
UTSW |
13 |
21,550,875 (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'- ACCAGGAAACTTCTGGACCC -3'
(R):5'- CCTTGTGTGTCTGAACTAAGCATC -3'
Sequencing Primer
(F):5'- CTTCTGGACCCCGGGAG -3'
(R):5'- GAGTGGACGTACATACCTGTAATCTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation