Incidental Mutation 'R0567:Zscan20'
| ID |
46203 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zscan20
|
| Ensembl Gene |
ENSMUSG00000061894 |
| Gene Name |
zinc finger and SCAN domains 20 |
| Synonyms |
Zfp31 |
| MMRRC Submission |
038758-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.223)
|
| Stock # |
R0567 (G1)
|
| Quality Score |
142 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
128477332-128503891 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 128483243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097877]
[ENSMUST00000097877]
[ENSMUST00000097877]
[ENSMUST00000135309]
[ENSMUST00000135309]
[ENSMUST00000135309]
|
| AlphaFold |
B2KFW1 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000084276
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000097877
|
| SMART Domains |
Protein: ENSMUSP00000095487
Gene: ENSMUSG00000061894
| 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 null
Transcript: ENSMUST00000097877
|
| SMART Domains |
Protein: ENSMUSP00000095487
Gene: ENSMUSG00000061894
| 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 null
Transcript: ENSMUST00000097877
|
| SMART Domains |
Protein: ENSMUSP00000095487
Gene: ENSMUSG00000061894
| 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 |
|
| 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 |
|
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
G |
4: 86,146,253 (GRCm39) |
E303G |
probably damaging |
Het |
| Akr1b1 |
A |
T |
6: 34,281,280 (GRCm39) |
|
probably null |
Het |
| Alox8 |
A |
T |
11: 69,082,348 (GRCm39) |
|
probably null |
Het |
| Apcdd1 |
G |
A |
18: 63,067,107 (GRCm39) |
E74K |
possibly damaging |
Het |
| Atr |
T |
C |
9: 95,747,882 (GRCm39) |
V388A |
probably benign |
Het |
| AW554918 |
G |
A |
18: 25,533,092 (GRCm39) |
E452K |
possibly damaging |
Het |
| C1galt1 |
A |
G |
6: 7,866,874 (GRCm39) |
D240G |
probably damaging |
Het |
| Ceacam10 |
T |
A |
7: 24,477,834 (GRCm39) |
D116E |
probably damaging |
Het |
| Col15a1 |
G |
T |
4: 47,293,231 (GRCm39) |
V912L |
possibly damaging |
Het |
| Cyp3a11 |
G |
A |
5: 145,805,959 (GRCm39) |
T136I |
probably damaging |
Het |
| Denr |
C |
T |
5: 124,046,221 (GRCm39) |
T17M |
probably benign |
Het |
| Doc2b |
A |
G |
11: 75,670,950 (GRCm39) |
F227S |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,376,414 (GRCm39) |
T1400S |
probably benign |
Het |
| Egfr |
A |
T |
11: 16,822,873 (GRCm39) |
D412V |
probably benign |
Het |
| Fryl |
C |
T |
5: 73,222,734 (GRCm39) |
G1949D |
possibly damaging |
Het |
| Gstp3 |
A |
T |
19: 4,107,636 (GRCm39) |
L176Q |
possibly damaging |
Het |
| H2ac12 |
T |
C |
13: 22,219,734 (GRCm39) |
|
probably benign |
Het |
| Heatr5a |
T |
A |
12: 51,956,872 (GRCm39) |
N1075I |
probably damaging |
Het |
| Ighv1-69 |
C |
T |
12: 115,587,169 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,682,309 (GRCm39) |
I1092V |
probably benign |
Het |
| Lipg |
A |
T |
18: 75,090,440 (GRCm39) |
H36Q |
probably benign |
Het |
| Myh7b |
T |
C |
2: 155,468,318 (GRCm39) |
W836R |
probably damaging |
Het |
| Oit3 |
A |
T |
10: 59,271,800 (GRCm39) |
C186S |
probably damaging |
Het |
| Or4m1 |
A |
T |
14: 50,558,115 (GRCm39) |
M59K |
probably damaging |
Het |
| P2ry2 |
T |
C |
7: 100,647,748 (GRCm39) |
T186A |
probably damaging |
Het |
| Pyroxd2 |
T |
C |
19: 42,724,364 (GRCm39) |
T300A |
probably benign |
Het |
| Rab26 |
C |
A |
17: 24,748,556 (GRCm39) |
V283F |
probably damaging |
Het |
| Rad50 |
C |
T |
11: 53,545,783 (GRCm39) |
R1180Q |
probably damaging |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
A |
G |
5: 93,112,312 (GRCm39) |
D1891G |
possibly damaging |
Het |
| Syne2 |
G |
A |
12: 75,937,004 (GRCm39) |
E201K |
probably damaging |
Het |
| Taf6 |
A |
T |
5: 138,181,988 (GRCm39) |
|
probably null |
Het |
| Tbc1d32 |
A |
T |
10: 56,050,059 (GRCm39) |
M493K |
possibly damaging |
Het |
| Uaca |
A |
G |
9: 60,778,663 (GRCm39) |
T1017A |
probably benign |
Het |
| Usp17le |
C |
T |
7: 104,418,105 (GRCm39) |
V346I |
possibly damaging |
Het |
| Vmn1r71 |
T |
C |
7: 10,482,556 (GRCm39) |
D44G |
probably damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,030,665 (GRCm39) |
I830M |
possibly damaging |
Het |
| Yju2b |
A |
G |
8: 84,987,294 (GRCm39) |
L93P |
probably damaging |
Het |
| Zfp994 |
T |
C |
17: 22,419,449 (GRCm39) |
Y500C |
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 |
|
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 |
|
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'- TGAGAAACACGCCTACGGAAATGAC -3'
(R):5'- CGACACTGAGATGGATGACCAAGAC -3'
Sequencing Primer
(F):5'- CCTTTGGAAGCAACTGGAATCTC -3'
(R):5'- CCAAGACGAAGGGAGCTG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation