Incidental Mutation 'IGL03295:Zscan21'
| ID |
416040 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zscan21
|
| Ensembl Gene |
ENSMUSG00000037017 |
| Gene Name |
zinc finger and SCAN domain containing 21 |
| Synonyms |
RU49, Zfp-38, Zfp38, Zipro1, CTfin51 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03295
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
138115165-138132527 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 138123540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 73
(D73G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119570
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062350]
[ENSMUST00000080732]
[ENSMUST00000110959]
[ENSMUST00000110960]
[ENSMUST00000110961]
[ENSMUST00000136425]
|
| AlphaFold |
Q07231 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000062350
AA Change: D73G
|
| SMART Domains |
Protein: ENSMUSP00000053430
Gene: ENSMUSG00000037017
AA Change: D73G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
37 |
N/A |
INTRINSIC |
|
SCAN
|
118 |
230 |
1.7e-80 |
SMART |
|
ZnF_C2H2
|
359 |
381 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
387 |
409 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
415 |
436 |
1.26e1 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
4.3e-5 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
498 |
520 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
526 |
548 |
2.2e-2 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000080732
AA Change: D73G
|
| SMART Domains |
Protein: ENSMUSP00000079557
Gene: ENSMUSG00000037017
AA Change: D73G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
37 |
N/A |
INTRINSIC |
|
SCAN
|
118 |
230 |
1.7e-80 |
SMART |
|
ZnF_C2H2
|
359 |
381 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
387 |
409 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
415 |
436 |
1.26e1 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
4.3e-5 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
498 |
520 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
526 |
548 |
2.2e-2 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000110959
AA Change: D73G
|
| SMART Domains |
Protein: ENSMUSP00000106584
Gene: ENSMUSG00000037017
AA Change: D73G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
37 |
N/A |
INTRINSIC |
|
SCAN
|
118 |
230 |
1.7e-80 |
SMART |
|
ZnF_C2H2
|
359 |
381 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
387 |
409 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
415 |
436 |
1.26e1 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
4.3e-5 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
498 |
520 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
526 |
548 |
2.2e-2 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000110960
AA Change: D73G
|
| SMART Domains |
Protein: ENSMUSP00000106585
Gene: ENSMUSG00000037017
AA Change: D73G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
37 |
N/A |
INTRINSIC |
|
SCAN
|
118 |
230 |
1.7e-80 |
SMART |
|
ZnF_C2H2
|
359 |
381 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
387 |
409 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
415 |
436 |
1.26e1 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
4.3e-5 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
498 |
520 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
526 |
548 |
2.2e-2 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000110961
AA Change: D73G
|
| SMART Domains |
Protein: ENSMUSP00000106586
Gene: ENSMUSG00000037017
AA Change: D73G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
37 |
N/A |
INTRINSIC |
|
SCAN
|
118 |
230 |
1.7e-80 |
SMART |
|
ZnF_C2H2
|
359 |
381 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
387 |
409 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
415 |
436 |
1.26e1 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
4.3e-5 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
498 |
520 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
526 |
548 |
2.2e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136425
AA Change: D73G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000119570
Gene: ENSMUSG00000037017
AA Change: D73G
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
18 |
58 |
3.16e-6 |
PROSPERO |
|
Pfam:SCAN
|
116 |
160 |
2.5e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142185
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes for a targeted null mutation appear to be phenotypically normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
T |
5: 99,390,915 (GRCm39) |
|
probably benign |
Het |
| Adamts5 |
T |
C |
16: 85,674,833 (GRCm39) |
T444A |
probably damaging |
Het |
| Aldh18a1 |
T |
C |
19: 40,551,386 (GRCm39) |
E522G |
probably damaging |
Het |
| Bbx |
T |
C |
16: 50,044,927 (GRCm39) |
T437A |
probably damaging |
Het |
| Bsx |
A |
G |
9: 40,785,743 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,977,769 (GRCm39) |
N729S |
probably benign |
Het |
| Cdk1 |
G |
T |
10: 69,178,373 (GRCm39) |
H162Q |
possibly damaging |
Het |
| Chrac1 |
A |
G |
15: 72,965,445 (GRCm39) |
|
probably benign |
Het |
| Cip2a |
T |
C |
16: 48,814,704 (GRCm39) |
S22P |
probably damaging |
Het |
| Ddx60 |
A |
T |
8: 62,409,155 (GRCm39) |
D397V |
possibly damaging |
Het |
| Edn2 |
T |
A |
4: 120,019,178 (GRCm39) |
C56S |
probably damaging |
Het |
| Gm4952 |
T |
C |
19: 12,595,691 (GRCm39) |
V27A |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,303,985 (GRCm39) |
S763T |
possibly damaging |
Het |
| Hspd1 |
G |
A |
1: 55,119,334 (GRCm39) |
T381I |
probably benign |
Het |
| Krt1c |
T |
A |
15: 101,724,864 (GRCm39) |
I249F |
probably damaging |
Het |
| Lman2l |
T |
C |
1: 36,477,892 (GRCm39) |
D148G |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 40,568,999 (GRCm39) |
|
probably null |
Het |
| Mier3 |
C |
A |
13: 111,840,215 (GRCm39) |
T51K |
probably benign |
Het |
| Ppp1r36 |
C |
T |
12: 76,485,192 (GRCm39) |
P305L |
probably damaging |
Het |
| Pramel27 |
G |
A |
4: 143,579,759 (GRCm39) |
C448Y |
probably damaging |
Het |
| Prdm1 |
T |
C |
10: 44,315,866 (GRCm39) |
I790V |
probably damaging |
Het |
| Sephs2 |
T |
C |
7: 126,871,941 (GRCm39) |
E384G |
possibly damaging |
Het |
| Sipa1l1 |
T |
A |
12: 82,479,714 (GRCm39) |
W1466R |
probably damaging |
Het |
| Snai2 |
T |
C |
16: 14,524,638 (GRCm39) |
L48P |
possibly damaging |
Het |
| Stt3a |
A |
G |
9: 36,674,627 (GRCm39) |
|
probably null |
Het |
| Synj1 |
T |
A |
16: 90,735,318 (GRCm39) |
N1545I |
probably benign |
Het |
| Vav2 |
A |
T |
2: 27,165,041 (GRCm39) |
S607T |
possibly damaging |
Het |
| Wdr27 |
T |
C |
17: 15,154,837 (GRCm39) |
K27E |
possibly damaging |
Het |
| Xcl1 |
A |
T |
1: 164,763,004 (GRCm39) |
V19E |
unknown |
Het |
| Xlr3c |
A |
T |
X: 72,301,240 (GRCm39) |
|
probably null |
Het |
| Zbtb44 |
T |
A |
9: 30,964,753 (GRCm39) |
D54E |
probably benign |
Het |
|
| Other mutations in Zscan21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00775:Zscan21
|
APN |
5 |
138,131,310 (GRCm39) |
nonsense |
probably null |
|
|
IGL02348:Zscan21
|
APN |
5 |
138,131,645 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0454:Zscan21
|
UTSW |
5 |
138,131,865 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0471:Zscan21
|
UTSW |
5 |
138,123,402 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1465:Zscan21
|
UTSW |
5 |
138,123,470 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1465:Zscan21
|
UTSW |
5 |
138,123,470 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1860:Zscan21
|
UTSW |
5 |
138,124,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5498:Zscan21
|
UTSW |
5 |
138,131,522 (GRCm39) |
missense |
probably benign |
|
|
R5851:Zscan21
|
UTSW |
5 |
138,124,740 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6213:Zscan21
|
UTSW |
5 |
138,123,359 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7079:Zscan21
|
UTSW |
5 |
138,124,728 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7448:Zscan21
|
UTSW |
5 |
138,116,110 (GRCm39) |
start gained |
probably benign |
|
|
R8436:Zscan21
|
UTSW |
5 |
138,116,178 (GRCm39) |
missense |
unknown |
|
|
R9116:Zscan21
|
UTSW |
5 |
138,123,937 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation