Incidental Mutation 'R8063:Zscan20'
| ID |
619839 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zscan20
|
| Ensembl Gene |
ENSMUSG00000061894 |
| Gene Name |
zinc finger and SCAN domains 20 |
| Synonyms |
Zfp31 |
| MMRRC Submission |
067499-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.223)
|
| Stock # |
R8063 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
128477332-128503891 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 128480028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 821
(S821N)
|
| 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: S821N
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000095487
Gene: ENSMUSG00000061894
AA Change: S821N
| 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 |
0.0615 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
T |
A |
11: 105,862,190 (GRCm39) |
I248N |
possibly damaging |
Het |
| Agk |
T |
A |
6: 40,306,490 (GRCm39) |
C20S |
possibly damaging |
Het |
| Alpk2 |
G |
A |
18: 65,483,417 (GRCm39) |
S197L |
probably benign |
Het |
| Armc10 |
T |
C |
5: 21,853,768 (GRCm39) |
|
probably null |
Het |
| Asxl2 |
A |
G |
12: 3,550,768 (GRCm39) |
T837A |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,603,545 (GRCm39) |
E50G |
probably damaging |
Het |
| Bend5 |
G |
T |
4: 111,317,031 (GRCm39) |
C398F |
probably damaging |
Het |
| Bicra |
A |
G |
7: 15,712,969 (GRCm39) |
V1026A |
probably benign |
Het |
| Canx |
A |
T |
11: 50,199,173 (GRCm39) |
Y165* |
probably null |
Het |
| Casp14 |
A |
G |
10: 78,549,865 (GRCm39) |
F210L |
probably damaging |
Het |
| Cep70 |
T |
A |
9: 99,178,175 (GRCm39) |
D458E |
probably benign |
Het |
| Cisd3 |
T |
C |
11: 97,576,710 (GRCm39) |
V12A |
probably benign |
Het |
| Cnot4 |
A |
T |
6: 35,045,578 (GRCm39) |
M211K |
probably damaging |
Het |
| Cyp4f18 |
A |
G |
8: 72,752,075 (GRCm39) |
L197P |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,230,729 (GRCm39) |
I209N |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Edem2 |
A |
T |
2: 155,544,376 (GRCm39) |
M458K |
probably benign |
Het |
| Eif2ak4 |
G |
A |
2: 118,241,382 (GRCm39) |
E178K |
possibly damaging |
Het |
| Fars2 |
G |
A |
13: 36,388,880 (GRCm39) |
W123* |
probably null |
Het |
| Ighv1-20 |
T |
C |
12: 114,687,405 (GRCm39) |
Y113C |
probably damaging |
Het |
| Il18r1 |
T |
A |
1: 40,526,198 (GRCm39) |
I248N |
probably benign |
Het |
| Impg2 |
T |
A |
16: 56,081,819 (GRCm39) |
|
probably benign |
Het |
| Kcnh2 |
T |
C |
5: 24,526,670 (GRCm39) |
E1042G |
probably benign |
Het |
| Krt42 |
G |
C |
11: 100,155,865 (GRCm39) |
R294G |
possibly damaging |
Het |
| Lasp1 |
T |
C |
11: 97,724,957 (GRCm39) |
Y188H |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,433,087 (GRCm39) |
T3361A |
unknown |
Het |
| Lrrc52 |
A |
G |
1: 167,294,090 (GRCm39) |
I65T |
probably damaging |
Het |
| Megf9 |
A |
G |
4: 70,406,495 (GRCm39) |
C224R |
probably damaging |
Het |
| Ms4a10 |
T |
C |
19: 10,942,136 (GRCm39) |
T162A |
probably benign |
Het |
| Mstn |
T |
A |
1: 53,105,607 (GRCm39) |
F316L |
probably benign |
Het |
| Ndufs8 |
T |
C |
19: 3,961,019 (GRCm39) |
Y86C |
probably damaging |
Het |
| Or10d4b |
A |
T |
9: 39,534,823 (GRCm39) |
I133F |
probably damaging |
Het |
| Pappa2 |
C |
T |
1: 158,764,126 (GRCm39) |
D462N |
possibly damaging |
Het |
| Rad51d |
A |
G |
11: 82,780,597 (GRCm39) |
S62P |
probably benign |
Het |
| Ralgapa2 |
A |
G |
2: 146,285,775 (GRCm39) |
Y388H |
probably damaging |
Het |
| Rdm1 |
C |
A |
11: 101,521,694 (GRCm39) |
Q150K |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Sctr |
T |
C |
1: 119,991,005 (GRCm39) |
V446A |
probably benign |
Het |
| Sin3b |
G |
A |
8: 73,452,169 (GRCm39) |
D71N |
probably damaging |
Het |
| Sirt5 |
A |
T |
13: 43,524,323 (GRCm39) |
T32S |
probably benign |
Het |
| Slc17a1 |
T |
C |
13: 24,059,524 (GRCm39) |
V85A |
probably benign |
Het |
| Snx1 |
C |
T |
9: 66,004,676 (GRCm39) |
|
probably benign |
Het |
| Sorcs1 |
T |
A |
19: 50,132,415 (GRCm39) |
D1181V |
unknown |
Het |
| Tcof1 |
A |
G |
18: 60,971,834 (GRCm39) |
S158P |
probably damaging |
Het |
| Tet3 |
T |
C |
6: 83,379,723 (GRCm39) |
D815G |
probably damaging |
Het |
| Tnfsf11 |
A |
T |
14: 78,516,098 (GRCm39) |
I290N |
probably damaging |
Het |
| Uba6 |
A |
T |
5: 86,300,544 (GRCm39) |
N225K |
probably benign |
Het |
| Usp30 |
A |
G |
5: 114,238,524 (GRCm39) |
T11A |
probably benign |
Het |
| Vmn1r5 |
T |
G |
6: 56,962,583 (GRCm39) |
M86R |
probably damaging |
Het |
| Vmn2r26 |
T |
A |
6: 124,001,914 (GRCm39) |
H66Q |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,841,327 (GRCm39) |
E2647G |
|
Het |
| Wdr5b |
T |
A |
16: 35,862,158 (GRCm39) |
D92E |
possibly damaging |
Het |
| Zfp960 |
C |
A |
17: 17,308,623 (GRCm39) |
R446S |
probably benign |
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 |
|
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'- GGCAGAGCTCTTAGAGAAGC -3'
(R):5'- AAGTGCATTTCTTTGCCCCG -3'
Sequencing Primer
(F):5'- GAGCTCTTAGAGAAGCACCTTC -3'
(R):5'- TGAGAAACCCTACAAGTGTCTTGGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation