Incidental Mutation 'R3415:Zscan2'
| ID |
266766 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zscan2
|
| Ensembl Gene |
ENSMUSG00000038797 |
| Gene Name |
zinc finger and SCAN domain containing 2 |
| Synonyms |
Zfp29, Zfp-29 |
| MMRRC Submission |
040633-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3415 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
80510668-80526285 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80525150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 290
(S290R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044115]
[ENSMUST00000132163]
[ENSMUST00000147125]
[ENSMUST00000155128]
|
| AlphaFold |
Q07230 |
| PDB Structure |
Aart, a six finger zinc finger designed to recognize ANN triplets [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044115
AA Change: S290R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042321
Gene: ENSMUSG00000038797
AA Change: S290R
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
64 |
160 |
3.18e-21 |
SMART |
|
low complexity region
|
164 |
177 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
222 |
244 |
3.49e-5 |
SMART |
|
ZnF_C2H2
|
250 |
272 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
278 |
300 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
306 |
328 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
334 |
356 |
9.88e-5 |
SMART |
|
ZnF_C2H2
|
362 |
384 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
390 |
412 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
418 |
440 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
446 |
468 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
474 |
496 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
502 |
524 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
530 |
552 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
558 |
580 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
586 |
608 |
4.61e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132163
|
| SMART Domains |
Protein: ENSMUSP00000118774
Gene: ENSMUSG00000038797
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
64 |
144 |
5.98e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147125
AA Change: S290R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121143
Gene: ENSMUSG00000038797
AA Change: S290R
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
64 |
160 |
3.18e-21 |
SMART |
|
low complexity region
|
164 |
177 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
222 |
244 |
3.49e-5 |
SMART |
|
ZnF_C2H2
|
250 |
272 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
278 |
300 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
306 |
328 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
334 |
356 |
9.88e-5 |
SMART |
|
ZnF_C2H2
|
362 |
384 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
390 |
412 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
418 |
440 |
1.69e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155128
|
| SMART Domains |
Protein: ENSMUSP00000117886
Gene: ENSMUSG00000038797
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
64 |
160 |
3.18e-21 |
SMART |
|
low complexity region
|
164 |
177 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains several copies of zinc finger motif, which is commonly found in transcriptional regulatory proteins. Studies in mice show that this gene is expressed during embryonic development, and specifically in the testis in adult mice, suggesting that it may play a role in regulating genes in germ cells. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc39 |
C |
G |
3: 33,868,646 (GRCm39) |
L813F |
probably benign |
Het |
| Cdh13 |
A |
T |
8: 119,401,946 (GRCm39) |
D116V |
probably benign |
Het |
| Cep170 |
G |
T |
1: 176,583,610 (GRCm39) |
P923Q |
probably damaging |
Het |
| Chga |
A |
G |
12: 102,529,043 (GRCm39) |
E340G |
probably benign |
Het |
| Cmip |
T |
A |
8: 118,076,116 (GRCm39) |
|
probably null |
Het |
| Cnga4 |
A |
G |
7: 105,056,325 (GRCm39) |
Y309C |
probably damaging |
Het |
| Crocc |
G |
A |
4: 140,773,758 (GRCm39) |
T103I |
possibly damaging |
Het |
| Dph6 |
C |
T |
2: 114,348,768 (GRCm39) |
V267I |
probably benign |
Het |
| Ero1a |
T |
C |
14: 45,525,323 (GRCm39) |
T401A |
possibly damaging |
Het |
| Exoc6b |
C |
G |
6: 84,867,547 (GRCm39) |
L288F |
possibly damaging |
Het |
| Ifi203 |
G |
A |
1: 173,756,326 (GRCm39) |
R486* |
probably null |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Klhl42 |
G |
A |
6: 147,009,378 (GRCm39) |
V406M |
probably damaging |
Het |
| Lims2 |
A |
T |
18: 32,077,208 (GRCm39) |
Y58F |
probably damaging |
Het |
| Lrp12 |
A |
G |
15: 39,741,678 (GRCm39) |
F365L |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,505,435 (GRCm39) |
S2178T |
possibly damaging |
Het |
| Mark4 |
T |
C |
7: 19,185,650 (GRCm39) |
D28G |
probably benign |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mmp1a |
A |
T |
9: 7,464,869 (GRCm39) |
K34N |
possibly damaging |
Het |
| Or4k2 |
T |
A |
14: 50,424,069 (GRCm39) |
T202S |
possibly damaging |
Het |
| P2rx5 |
G |
T |
11: 73,051,486 (GRCm39) |
V22L |
possibly damaging |
Het |
| Pnma8a |
A |
G |
7: 16,694,879 (GRCm39) |
R245G |
possibly damaging |
Het |
| Prpsap1 |
T |
C |
11: 116,369,410 (GRCm39) |
S179G |
probably benign |
Het |
| Specc1 |
A |
G |
11: 62,009,245 (GRCm39) |
T334A |
probably benign |
Het |
| Tas2r124 |
A |
T |
6: 132,732,601 (GRCm39) |
R303S |
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,113,629 (GRCm39) |
Y301H |
probably damaging |
Het |
| Unc13c |
G |
T |
9: 73,839,868 (GRCm39) |
H328N |
probably benign |
Het |
| Zfp641 |
T |
C |
15: 98,188,421 (GRCm39) |
D153G |
probably benign |
Het |
| Zp3 |
A |
G |
5: 136,014,514 (GRCm39) |
T278A |
probably benign |
Het |
|
| Other mutations in Zscan2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00536:Zscan2
|
APN |
7 |
80,525,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01793:Zscan2
|
APN |
7 |
80,524,692 (GRCm39) |
missense |
probably null |
0.79 |
|
R1570:Zscan2
|
UTSW |
7 |
80,513,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1618:Zscan2
|
UTSW |
7 |
80,525,534 (GRCm39) |
nonsense |
probably null |
|
|
R1622:Zscan2
|
UTSW |
7 |
80,525,134 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1842:Zscan2
|
UTSW |
7 |
80,525,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3122:Zscan2
|
UTSW |
7 |
80,513,092 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4674:Zscan2
|
UTSW |
7 |
80,525,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5988:Zscan2
|
UTSW |
7 |
80,525,947 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6276:Zscan2
|
UTSW |
7 |
80,525,557 (GRCm39) |
missense |
probably benign |
|
|
R6379:Zscan2
|
UTSW |
7 |
80,513,085 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7897:Zscan2
|
UTSW |
7 |
80,525,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9225:Zscan2
|
UTSW |
7 |
80,513,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9363:Zscan2
|
UTSW |
7 |
80,525,331 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9501:Zscan2
|
UTSW |
7 |
80,525,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGCCGGAAATCCCACCTTATC -3'
(R):5'- TTCTCCGGTGCGTAATGAGC -3'
Sequencing Primer
(F):5'- CCTTATCACCCATGAGCGG -3'
(R):5'- GTAACTGAAGCTTTCGCCG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation