Incidental Mutation 'R2302:Zscan20'
ID |
244452 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zscan20
|
Ensembl Gene |
ENSMUSG00000061894 |
Gene Name |
zinc finger and SCAN domains 20 |
Synonyms |
Zfp31 |
MMRRC Submission |
040301-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.223)
|
Stock # |
R2302 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
128477332-128503891 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 128482057 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 535
(N535S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095487
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097877]
[ENSMUST00000135309]
|
AlphaFold |
B2KFW1 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000084276
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097877
AA Change: N535S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000095487 Gene: ENSMUSG00000061894 AA Change: N535S
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 |
|
Meta Mutation Damage Score |
0.0823 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
97% (30/31) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agpat2 |
A |
T |
2: 26,494,207 (GRCm39) |
W6R |
possibly damaging |
Het |
Ahrr |
C |
A |
13: 74,425,780 (GRCm39) |
V72F |
probably damaging |
Het |
Ank1 |
G |
A |
8: 23,609,415 (GRCm39) |
C1369Y |
probably damaging |
Het |
Cdh3 |
C |
A |
8: 107,271,701 (GRCm39) |
P538Q |
probably damaging |
Het |
Cnn2 |
C |
G |
10: 79,827,233 (GRCm39) |
R35G |
possibly damaging |
Het |
Csmd3 |
C |
A |
15: 48,177,447 (GRCm39) |
A364S |
probably benign |
Het |
Dhcr7 |
A |
G |
7: 143,391,629 (GRCm39) |
T73A |
probably benign |
Het |
Gbp9 |
T |
C |
5: 105,241,958 (GRCm39) |
N200D |
possibly damaging |
Het |
Hyls1 |
T |
C |
9: 35,475,365 (GRCm39) |
E3G |
possibly damaging |
Het |
Ifngr1 |
T |
C |
10: 19,485,393 (GRCm39) |
L464P |
probably damaging |
Het |
Kdm1b |
TCATTGTCC |
TCATTGTCCATTGTCC |
13: 47,217,564 (GRCm39) |
|
probably null |
Het |
Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
Lhfpl2 |
T |
C |
13: 94,311,054 (GRCm39) |
V108A |
probably benign |
Het |
Lrrc7 |
C |
G |
3: 157,840,881 (GRCm39) |
G1386R |
probably damaging |
Het |
Mlc1 |
A |
G |
15: 88,849,640 (GRCm39) |
V231A |
possibly damaging |
Het |
Mup4 |
T |
A |
4: 59,960,702 (GRCm39) |
|
probably null |
Het |
Myh8 |
A |
T |
11: 67,177,065 (GRCm39) |
R406W |
probably damaging |
Het |
Poldip3 |
T |
C |
15: 83,013,469 (GRCm39) |
|
probably benign |
Het |
Pomt1 |
G |
A |
2: 32,133,671 (GRCm39) |
G216S |
probably benign |
Het |
Ppil6 |
T |
A |
10: 41,377,795 (GRCm39) |
C169S |
probably damaging |
Het |
Prokr2 |
A |
G |
2: 132,223,104 (GRCm39) |
I146T |
probably damaging |
Het |
Rab3b |
T |
C |
4: 108,786,640 (GRCm39) |
V130A |
probably damaging |
Het |
Reck |
T |
A |
4: 43,931,015 (GRCm39) |
I672N |
probably benign |
Het |
Scn1a |
T |
C |
2: 66,108,089 (GRCm39) |
T1546A |
probably damaging |
Het |
Sftpd |
T |
A |
14: 40,894,399 (GRCm39) |
E340V |
probably damaging |
Het |
Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
Slfn10-ps |
A |
T |
11: 82,919,756 (GRCm39) |
|
noncoding transcript |
Het |
Svopl |
A |
T |
6: 38,018,101 (GRCm39) |
|
probably benign |
Het |
Tbx5 |
A |
G |
5: 119,979,924 (GRCm39) |
K157E |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,724,696 (GRCm39) |
C6333S |
probably benign |
Het |
Zfp609 |
T |
C |
9: 65,702,179 (GRCm39) |
K158E |
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 |
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 |
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'- AGAAGTCTAACGGCGTCCTC -3'
(R):5'- CTTCACTTCTGACAGCAGGC -3'
Sequencing Primer
(F):5'- AGGCCTCTTGGTCATCAGC -3'
(R):5'- CGTGCACTGGGGCTTCG -3'
|
Posted On |
2014-10-30 |