Incidental Mutation 'R8028:Zscan12'
| ID |
628873 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zscan12
|
| Ensembl Gene |
ENSMUSG00000036721 |
| Gene Name |
zinc finger and SCAN domain containing 12 |
| Synonyms |
Zfp96 |
| MMRRC Submission |
067467-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8028 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
21546990-21556459 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 21553022 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 282
(S282L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053293]
[ENSMUST00000099720]
[ENSMUST00000225545]
|
| AlphaFold |
Q9Z1D7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053293
AA Change: S282L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000058904
Gene: ENSMUSG00000036721
AA Change: S282L
| 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 benign
Transcript: ENSMUST00000099720
AA Change: S282L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000097308
Gene: ENSMUSG00000036721
AA Change: S282L
| 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 benign
Transcript: ENSMUST00000225545
AA Change: S282L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.0%
- 20x: 96.4%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
G |
A |
17: 24,626,671 (GRCm39) |
R1500Q |
probably benign |
Het |
| Arhgap21 |
C |
T |
2: 20,885,216 (GRCm39) |
V664M |
probably benign |
Het |
| Arhgef11 |
T |
C |
3: 87,642,859 (GRCm39) |
V1464A |
probably benign |
Het |
| Ccdc121 |
G |
T |
5: 31,645,266 (GRCm39) |
V340F |
possibly damaging |
Het |
| Ccdc158 |
G |
T |
5: 92,782,110 (GRCm39) |
H836Q |
probably damaging |
Het |
| Clcn2 |
T |
A |
16: 20,527,512 (GRCm39) |
Y584F |
possibly damaging |
Het |
| Csn1s2b |
G |
T |
5: 87,966,951 (GRCm39) |
M84I |
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gimap4 |
A |
T |
6: 48,667,684 (GRCm39) |
R146S |
probably damaging |
Het |
| Gm20671 |
T |
C |
5: 32,952,958 (GRCm39) |
N184S |
possibly damaging |
Het |
| Gpr179 |
T |
C |
11: 97,228,627 (GRCm39) |
E1176G |
probably damaging |
Het |
| Hif1a |
T |
C |
12: 73,988,801 (GRCm39) |
S589P |
probably benign |
Het |
| Kcna7 |
T |
A |
7: 45,058,947 (GRCm39) |
C411* |
probably null |
Het |
| Kel |
C |
T |
6: 41,675,958 (GRCm39) |
S244N |
probably benign |
Het |
| Lama2 |
A |
T |
10: 27,204,145 (GRCm39) |
S498T |
probably benign |
Het |
| Map4 |
C |
T |
9: 109,897,812 (GRCm39) |
T846I |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,194,502 (GRCm39) |
V1571A |
possibly damaging |
Het |
| Osbpl5 |
T |
C |
7: 143,269,472 (GRCm39) |
T47A |
probably benign |
Het |
| Parl |
T |
C |
16: 20,098,801 (GRCm39) |
K353E |
probably benign |
Het |
| Pcdhb17 |
G |
A |
18: 37,620,502 (GRCm39) |
S764N |
probably benign |
Het |
| Poglut1 |
A |
G |
16: 38,355,095 (GRCm39) |
S244P |
probably damaging |
Het |
| Polq |
C |
T |
16: 36,881,678 (GRCm39) |
H1281Y |
possibly damaging |
Het |
| Rsf1 |
CG |
CGACCGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sardh |
C |
T |
2: 27,120,467 (GRCm39) |
M438I |
probably damaging |
Het |
| Slc14a1 |
T |
C |
18: 78,159,727 (GRCm39) |
I55M |
probably benign |
Het |
| Slc22a12 |
T |
A |
19: 6,588,469 (GRCm39) |
T350S |
probably benign |
Het |
| Srrt |
CACCTTCTCCCCAGAACCCCACACCTTACCTG |
C |
5: 137,300,760 (GRCm39) |
|
probably benign |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Stk38l |
T |
C |
6: 146,674,881 (GRCm39) |
F382S |
probably damaging |
Het |
| Swt1 |
G |
T |
1: 151,260,248 (GRCm39) |
T717K |
probably benign |
Het |
| Tmem230 |
A |
G |
2: 132,085,985 (GRCm39) |
L59P |
probably benign |
Het |
| Vmn2r98 |
A |
T |
17: 19,273,912 (GRCm39) |
Y53F |
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 |
|
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 |
|
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'- CACAACCCTGGAGAAGAGTC -3'
(R):5'- TCCTGATGGGTAGCAAGAGATG -3'
Sequencing Primer
(F):5'- CTTCTGGTATTTCCCATGAAGACAG -3'
(R):5'- CCACAATCGTTGCATTCGTAGGG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation