Incidental Mutation 'R6580:Zscan12'
| ID |
524102 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zscan12
|
| Ensembl Gene |
ENSMUSG00000036721 |
| Gene Name |
zinc finger and SCAN domain containing 12 |
| Synonyms |
Zfp96 |
| MMRRC Submission |
044704-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6580 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
21546990-21556459 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21553328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 384
(L384P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053293]
[ENSMUST00000099720]
[ENSMUST00000225545]
|
| AlphaFold |
Q9Z1D7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053293
AA Change: L384P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000058904
Gene: ENSMUSG00000036721
AA Change: L384P
| 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 |
probably damaging
Transcript: ENSMUST00000099720
AA Change: L384P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097308
Gene: ENSMUSG00000036721
AA Change: L384P
| 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 |
probably damaging
Transcript: ENSMUST00000225545
AA Change: L384P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
| Validation Efficiency |
97% (32/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
A |
3: 137,772,386 (GRCm39) |
R525H |
probably benign |
Het |
| Acox3 |
T |
A |
5: 35,765,747 (GRCm39) |
L600Q |
probably damaging |
Het |
| Ankrd49 |
A |
G |
9: 14,692,694 (GRCm39) |
S157P |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,842,099 (GRCm39) |
F1444S |
possibly damaging |
Het |
| Cimap2 |
G |
T |
4: 106,468,711 (GRCm39) |
H271N |
possibly damaging |
Het |
| Defb28 |
C |
T |
2: 152,360,215 (GRCm39) |
S10L |
possibly damaging |
Het |
| Epha6 |
T |
G |
16: 59,502,979 (GRCm39) |
N976T |
probably damaging |
Het |
| Gm45861 |
A |
G |
8: 28,034,979 (GRCm39) |
K976E |
unknown |
Het |
| Gtf2ird1 |
T |
G |
5: 134,389,893 (GRCm39) |
N920H |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,243,519 (GRCm39) |
M1695K |
probably benign |
Het |
| Hfm1 |
C |
T |
5: 106,995,575 (GRCm39) |
E1279K |
probably benign |
Het |
| Il31ra |
C |
T |
13: 112,688,476 (GRCm39) |
D34N |
possibly damaging |
Het |
| Klhl3 |
T |
A |
13: 58,166,701 (GRCm39) |
I430F |
possibly damaging |
Het |
| Mfhas1 |
A |
G |
8: 36,056,419 (GRCm39) |
Y298C |
probably damaging |
Het |
| Muc20 |
A |
T |
16: 32,613,859 (GRCm39) |
M506K |
possibly damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Naip1 |
T |
A |
13: 100,581,157 (GRCm39) |
D30V |
probably damaging |
Het |
| Nol9 |
A |
G |
4: 152,136,218 (GRCm39) |
N430S |
probably benign |
Het |
| Or8b44 |
T |
C |
9: 38,410,319 (GRCm39) |
M118T |
probably damaging |
Het |
| Palm3 |
A |
G |
8: 84,756,177 (GRCm39) |
E563G |
probably damaging |
Het |
| Pcdhga4 |
A |
G |
18: 37,820,370 (GRCm39) |
S640G |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,168,694 (GRCm39) |
F679L |
probably damaging |
Het |
| Pierce1 |
A |
G |
2: 28,356,062 (GRCm39) |
W74R |
probably damaging |
Het |
| Polr3c |
A |
G |
3: 96,634,659 (GRCm39) |
|
probably null |
Het |
| Ptdss2 |
T |
A |
7: 140,732,925 (GRCm39) |
I236N |
probably damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,620,621 (GRCm39) |
Y879C |
possibly damaging |
Het |
| Shc3 |
T |
C |
13: 51,596,809 (GRCm39) |
T405A |
probably benign |
Het |
| Smtnl2 |
G |
T |
11: 72,293,859 (GRCm39) |
S232R |
probably benign |
Het |
| Taar8a |
G |
A |
10: 23,952,791 (GRCm39) |
A132T |
probably damaging |
Het |
| Tex47 |
T |
C |
5: 7,355,212 (GRCm39) |
I131T |
probably damaging |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Vmn1r63 |
A |
G |
7: 5,805,913 (GRCm39) |
S240P |
probably benign |
Het |
| Vmn2r130 |
T |
C |
17: 23,282,740 (GRCm39) |
V140A |
probably benign |
Het |
| Vmn2r84 |
A |
G |
10: 130,225,110 (GRCm39) |
W467R |
possibly 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 |
|
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 |
|
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 |
|
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'- ATCTGTCCAGGGAGAAAAGTGC -3'
(R):5'- ACTTTGAGTGAAGGGTTTCTCC -3'
Sequencing Primer
(F):5'- TATTCGACACAAGGTGGTCC -3'
(R):5'- TCTCCTTGTGATGGGTTTCC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation