Incidental Mutation 'R8244:Zscan20'
| ID |
640855 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zscan20
|
| Ensembl Gene |
ENSMUSG00000061894 |
| Gene Name |
zinc finger and SCAN domains 20 |
| Synonyms |
Zfp31 |
| MMRRC Submission |
067672-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.223)
|
| Stock # |
R8244 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
128477332-128503891 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128479759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 911
(T911A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097877]
[ENSMUST00000135309]
|
| AlphaFold |
B2KFW1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097877
AA Change: T911A
PolyPhen 2
Score 0.324 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000095487
Gene: ENSMUSG00000061894
AA Change: T911A
| 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 |
probably benign
Transcript: ENSMUST00000135309
|
| SMART Domains |
Protein: ENSMUSP00000119338
Gene: ENSMUSG00000061894
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
T |
C |
7: 27,271,004 (GRCm39) |
I133T |
probably damaging |
Het |
| Ahnak |
C |
T |
19: 8,993,037 (GRCm39) |
P4774S |
probably benign |
Het |
| Alg5 |
A |
G |
3: 54,646,221 (GRCm39) |
I29V |
probably benign |
Het |
| Ankar |
A |
G |
1: 72,690,183 (GRCm39) |
I1216T |
probably benign |
Het |
| Ap5z1 |
A |
T |
5: 142,459,735 (GRCm39) |
T462S |
possibly damaging |
Het |
| Apc2 |
A |
T |
10: 80,151,166 (GRCm39) |
R2073S |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,060,548 (GRCm39) |
E3010V |
probably damaging |
Het |
| Arid3c |
T |
G |
4: 41,729,997 (GRCm39) |
E66A |
possibly damaging |
Het |
| Atf7 |
A |
G |
15: 102,437,301 (GRCm39) |
S54P |
unknown |
Het |
| Cbx3 |
C |
T |
6: 51,452,350 (GRCm39) |
T55I |
probably benign |
Het |
| Clptm1 |
A |
T |
7: 19,372,916 (GRCm39) |
F205I |
possibly damaging |
Het |
| Cramp1 |
T |
A |
17: 25,190,384 (GRCm39) |
I1117F |
probably damaging |
Het |
| Dgkq |
A |
G |
5: 108,796,578 (GRCm39) |
*935Q |
probably null |
Het |
| Dock2 |
A |
T |
11: 34,586,280 (GRCm39) |
F511I |
probably damaging |
Het |
| Efr3a |
G |
A |
15: 65,687,217 (GRCm39) |
R15H |
probably damaging |
Het |
| Ehmt2 |
A |
G |
17: 35,124,238 (GRCm39) |
D385G |
probably damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Gfpt1 |
T |
A |
6: 87,040,613 (GRCm39) |
|
probably benign |
Het |
| Gm21680 |
T |
C |
5: 26,173,983 (GRCm39) |
E207G |
probably damaging |
Het |
| Igsf23 |
A |
T |
7: 19,675,798 (GRCm39) |
C141S |
possibly damaging |
Het |
| Ktn1 |
A |
T |
14: 47,912,280 (GRCm39) |
E349V |
probably null |
Het |
| Lrp1b |
T |
C |
2: 41,396,794 (GRCm39) |
D424G |
|
Het |
| Lrrc9 |
A |
G |
12: 72,546,384 (GRCm39) |
I1190V |
probably benign |
Het |
| Lztfl1 |
T |
A |
9: 123,541,514 (GRCm39) |
I102F |
probably damaging |
Het |
| Mapk11 |
G |
T |
15: 89,030,007 (GRCm39) |
T203K |
possibly damaging |
Het |
| Mgam |
T |
A |
6: 40,727,520 (GRCm39) |
I1315N |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,331,750 (GRCm39) |
M695T |
probably benign |
Het |
| Pdcd4 |
A |
G |
19: 53,895,965 (GRCm39) |
T8A |
probably benign |
Het |
| Pramel27 |
T |
C |
4: 143,579,854 (GRCm39) |
Y480H |
probably damaging |
Het |
| Ptx4 |
A |
G |
17: 25,341,839 (GRCm39) |
K105E |
possibly damaging |
Het |
| Pxn |
C |
T |
5: 115,690,302 (GRCm39) |
P381L |
probably damaging |
Het |
| Rtn4rl1 |
T |
C |
11: 75,156,276 (GRCm39) |
L236P |
probably damaging |
Het |
| Sall3 |
G |
A |
18: 81,016,969 (GRCm39) |
P320S |
probably benign |
Het |
| Sh2b2 |
G |
T |
5: 136,256,291 (GRCm39) |
S247* |
probably null |
Het |
| Sim2 |
T |
A |
16: 93,910,222 (GRCm39) |
V208E |
probably damaging |
Het |
| Slc44a4 |
T |
C |
17: 35,140,548 (GRCm39) |
L247P |
probably damaging |
Het |
| Sox1 |
GGGCGGCGGCGGCGGCGG |
GGGCGGCGGCGGCGG |
8: 12,446,468 (GRCm39) |
|
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,330,406 (GRCm39) |
D1937G |
probably damaging |
Het |
| Tmem131 |
T |
C |
1: 36,847,974 (GRCm39) |
N1158S |
probably benign |
Het |
| Tns1 |
G |
T |
1: 73,976,410 (GRCm39) |
A1146E |
probably damaging |
Het |
| Tom1l1 |
T |
C |
11: 90,548,647 (GRCm39) |
E308G |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,659,051 (GRCm39) |
K12262* |
probably null |
Het |
| Vps13b |
G |
T |
15: 35,917,349 (GRCm39) |
G3731V |
probably damaging |
Het |
| Wdr20 |
G |
A |
12: 110,760,076 (GRCm39) |
E321K |
probably benign |
Het |
| Zfp516 |
G |
T |
18: 82,974,458 (GRCm39) |
G219C |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,697,933 (GRCm39) |
C259S |
possibly 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 |
|
R5160:Zscan20
|
UTSW |
4 |
128,486,275 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
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 |
|
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'- GCACTCTCTGCACTTGTACG -3'
(R):5'- ACCTCAGAATATCAGCATGGG -3'
Sequencing Primer
(F):5'- GGCTTCTCTCCCGTGTGAATC -3'
(R):5'- GACTCTCCTGGAGCCTGTCAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation