Incidental Mutation 'R5160:Zscan20'
| ID |
396924 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zscan20
|
| Ensembl Gene |
ENSMUSG00000061894 |
| Gene Name |
zinc finger and SCAN domains 20 |
| Synonyms |
Zfp31 |
| MMRRC Submission |
042742-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R5160 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
128477332-128503891 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128486275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 142
(S142P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097877]
[ENSMUST00000135309]
|
| AlphaFold |
B2KFW1 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000084276
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097877
AA Change: S142P
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000095487
Gene: ENSMUSG00000061894
AA Change: S142P
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
41 |
147 |
1.31e-54 |
SMART |
|
low complexity region
|
275 |
284 |
N/A |
INTRINSIC |
|
SANT
|
314 |
378 |
8.04e-1 |
SMART |
|
SANT
|
475 |
539 |
4.85e-3 |
SMART |
|
ZnF_C2H2
|
725 |
747 |
2.61e1 |
SMART |
|
ZnF_C2H2
|
753 |
775 |
9.88e-5 |
SMART |
|
ZnF_C2H2
|
781 |
803 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
862 |
884 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
890 |
912 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
918 |
940 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
946 |
968 |
2.84e-5 |
SMART |
|
ZnF_C2H2
|
974 |
996 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
1002 |
1024 |
1.47e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135309
AA Change: S142P
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000119338
Gene: ENSMUSG00000061894
AA Change: S142P
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
41 |
147 |
1.31e-54 |
SMART |
|
low complexity region
|
279 |
293 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aftph |
G |
A |
11: 20,662,197 (GRCm39) |
P681L |
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,080,007 (GRCm39) |
R1920G |
probably damaging |
Het |
| Ano9 |
G |
A |
7: 140,684,278 (GRCm39) |
R495C |
probably damaging |
Het |
| Apoa5 |
A |
G |
9: 46,181,794 (GRCm39) |
Y290C |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,062,126 (GRCm39) |
I3536T |
possibly damaging |
Het |
| Arhgap42 |
T |
G |
9: 8,997,656 (GRCm39) |
K823T |
probably damaging |
Het |
| Bicc1 |
T |
C |
10: 70,768,066 (GRCm39) |
Y850C |
probably damaging |
Het |
| Cdh2 |
A |
T |
18: 16,762,644 (GRCm39) |
D433E |
probably damaging |
Het |
| Cfap100 |
A |
G |
6: 90,390,692 (GRCm39) |
|
probably null |
Het |
| Col6a5 |
T |
C |
9: 105,808,208 (GRCm39) |
N947D |
unknown |
Het |
| Col8a2 |
A |
G |
4: 126,204,205 (GRCm39) |
K72E |
possibly damaging |
Het |
| Ddx18 |
A |
G |
1: 121,493,608 (GRCm39) |
|
probably null |
Het |
| Dna2 |
T |
C |
10: 62,782,933 (GRCm39) |
V21A |
probably benign |
Het |
| Dnaja3 |
T |
A |
16: 4,502,152 (GRCm39) |
M52K |
probably benign |
Het |
| Fnip2 |
G |
A |
3: 79,396,298 (GRCm39) |
T504I |
probably damaging |
Het |
| Il18 |
G |
A |
9: 50,489,193 (GRCm39) |
|
probably null |
Het |
| Ina |
T |
A |
19: 47,003,519 (GRCm39) |
I109N |
probably damaging |
Het |
| Katnb1 |
G |
T |
8: 95,822,098 (GRCm39) |
V275L |
probably benign |
Het |
| Kdm6b |
C |
A |
11: 69,291,594 (GRCm39) |
|
probably benign |
Het |
| Kifc2 |
T |
A |
15: 76,547,177 (GRCm39) |
L251Q |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,738,105 (GRCm39) |
|
probably benign |
Het |
| Lcor |
T |
A |
19: 41,544,053 (GRCm39) |
V82E |
probably damaging |
Het |
| Limk2 |
A |
C |
11: 3,300,772 (GRCm39) |
V190G |
probably damaging |
Het |
| Luc7l |
A |
G |
17: 26,486,271 (GRCm39) |
D150G |
probably benign |
Het |
| Magi3 |
T |
A |
3: 103,935,224 (GRCm39) |
H903L |
possibly damaging |
Het |
| Mdh1b |
C |
T |
1: 63,764,804 (GRCm39) |
R33Q |
probably null |
Het |
| Myo9a |
T |
C |
9: 59,779,085 (GRCm39) |
F1614L |
probably benign |
Het |
| Ngly1 |
A |
G |
14: 16,281,751 (GRCm38) |
T210A |
probably damaging |
Het |
| Oas1h |
A |
G |
5: 121,009,145 (GRCm39) |
Y285C |
probably damaging |
Het |
| Or1l4b |
T |
A |
2: 37,036,815 (GRCm39) |
M197K |
probably benign |
Het |
| Or2h1 |
T |
C |
17: 37,404,616 (GRCm39) |
D50G |
possibly damaging |
Het |
| Or2y12 |
T |
C |
11: 49,426,516 (GRCm39) |
L168P |
probably damaging |
Het |
| Or4a79 |
T |
C |
2: 89,551,763 (GRCm39) |
R231G |
probably damaging |
Het |
| Or5ac25 |
C |
T |
16: 59,182,129 (GRCm39) |
G151R |
probably damaging |
Het |
| Or9s23 |
C |
T |
1: 92,501,544 (GRCm39) |
T217I |
probably benign |
Het |
| Osbpl7 |
T |
C |
11: 96,945,382 (GRCm39) |
S81P |
probably damaging |
Het |
| Pcdha3 |
T |
C |
18: 37,079,480 (GRCm39) |
V74A |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,140,917 (GRCm39) |
D68G |
probably benign |
Het |
| Prkcz |
A |
T |
4: 155,377,689 (GRCm39) |
V79D |
probably benign |
Het |
| Ptpn12 |
T |
A |
5: 21,202,829 (GRCm39) |
I650F |
probably damaging |
Het |
| Rb1 |
A |
G |
14: 73,501,895 (GRCm39) |
|
silent |
Het |
| Rnaseh2b |
T |
G |
14: 62,590,980 (GRCm39) |
Y56* |
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,477,272 (GRCm39) |
C4495S |
probably damaging |
Het |
| Tk1 |
A |
G |
11: 117,715,572 (GRCm39) |
I45T |
possibly damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Upp1 |
T |
C |
11: 9,085,193 (GRCm39) |
S227P |
possibly damaging |
Het |
| Vmn1r30 |
T |
A |
6: 58,412,368 (GRCm39) |
N155Y |
probably benign |
Het |
| Wdr35 |
C |
T |
12: 9,058,487 (GRCm39) |
A548V |
probably damaging |
Het |
| Zc3h3 |
A |
T |
15: 75,681,512 (GRCm39) |
M523K |
probably benign |
Het |
| Zc3h4 |
T |
C |
7: 16,168,573 (GRCm39) |
L894P |
unknown |
Het |
| Zfp790 |
C |
T |
7: 29,529,192 (GRCm39) |
H626Y |
probably benign |
Het |
| Zfp873 |
C |
T |
10: 81,896,876 (GRCm39) |
H536Y |
possibly damaging |
Het |
| Zmym4 |
A |
T |
4: 126,763,977 (GRCm39) |
N1354K |
probably damaging |
Het |
|
| Other mutations in Zscan20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00552:Zscan20
|
APN |
4 |
128,480,428 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01454:Zscan20
|
APN |
4 |
128,483,334 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01934:Zscan20
|
APN |
4 |
128,486,277 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02288:Zscan20
|
APN |
4 |
128,480,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02336:Zscan20
|
APN |
4 |
128,479,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02385:Zscan20
|
APN |
4 |
128,498,392 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02437:Zscan20
|
APN |
4 |
128,482,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02450:Zscan20
|
APN |
4 |
128,480,450 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0034:Zscan20
|
UTSW |
4 |
128,479,455 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0034:Zscan20
|
UTSW |
4 |
128,479,455 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0070:Zscan20
|
UTSW |
4 |
128,479,675 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0142:Zscan20
|
UTSW |
4 |
128,479,630 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0496:Zscan20
|
UTSW |
4 |
128,485,682 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0567:Zscan20
|
UTSW |
4 |
128,483,243 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1333:Zscan20
|
UTSW |
4 |
128,481,889 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1716:Zscan20
|
UTSW |
4 |
128,480,334 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2302:Zscan20
|
UTSW |
4 |
128,482,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3870:Zscan20
|
UTSW |
4 |
128,480,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4611:Zscan20
|
UTSW |
4 |
128,481,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4884:Zscan20
|
UTSW |
4 |
128,481,958 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4972:Zscan20
|
UTSW |
4 |
128,486,152 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5033:Zscan20
|
UTSW |
4 |
128,479,921 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5182:Zscan20
|
UTSW |
4 |
128,480,504 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5214:Zscan20
|
UTSW |
4 |
128,482,109 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5345:Zscan20
|
UTSW |
4 |
128,481,914 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5863:Zscan20
|
UTSW |
4 |
128,480,141 (GRCm39) |
nonsense |
probably null |
|
|
R6217:Zscan20
|
UTSW |
4 |
128,498,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6597:Zscan20
|
UTSW |
4 |
128,479,539 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6751:Zscan20
|
UTSW |
4 |
128,479,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6852:Zscan20
|
UTSW |
4 |
128,483,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7172:Zscan20
|
UTSW |
4 |
128,479,469 (GRCm39) |
nonsense |
probably null |
|
|
R7338:Zscan20
|
UTSW |
4 |
128,481,943 (GRCm39) |
missense |
probably benign |
|
|
R7805:Zscan20
|
UTSW |
4 |
128,479,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8063:Zscan20
|
UTSW |
4 |
128,480,028 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8244:Zscan20
|
UTSW |
4 |
128,479,759 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8421:Zscan20
|
UTSW |
4 |
128,479,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8752:Zscan20
|
UTSW |
4 |
128,479,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8939:Zscan20
|
UTSW |
4 |
128,498,315 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8971:Zscan20
|
UTSW |
4 |
128,479,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8971:Zscan20
|
UTSW |
4 |
128,479,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9149:Zscan20
|
UTSW |
4 |
128,481,914 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9458:Zscan20
|
UTSW |
4 |
128,480,639 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTTGGGAAGAAAAGCCTC -3'
(R):5'- TCGGTAGCACAGACAGAATTC -3'
Sequencing Primer
(F):5'- TGGGAAGAAAAGCCTCACTCTCTTC -3'
(R):5'- TCGGTAGCACAGACAGAATTCATATG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation