Incidental Mutation 'IGL00309:Zscan25'
| ID |
5500 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zscan25
|
| Ensembl Gene |
ENSMUSG00000070420 |
| Gene Name |
zinc finger and SCAN domain containing 25 |
| Synonyms |
Zfp498, EG666311 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
IGL00309
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
145217310-145228088 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 145220559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 118
(E118G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094116]
[ENSMUST00000199563]
[ENSMUST00000200246]
|
| AlphaFold |
B2RX31 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094116
AA Change: E118G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091664
Gene: ENSMUSG00000070420
AA Change: E118G
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
38 |
150 |
5.94e-53 |
SMART |
|
Blast:KRAB
|
231 |
288 |
4e-31 |
BLAST |
|
ZnF_C2H2
|
346 |
368 |
2.15e-5 |
SMART |
|
ZnF_C2H2
|
374 |
396 |
5.06e-2 |
SMART |
|
ZnF_C2H2
|
402 |
424 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
430 |
452 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
458 |
479 |
1.08e1 |
SMART |
|
ZnF_C2H2
|
485 |
507 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
513 |
536 |
5.59e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199563
AA Change: E118G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143449
Gene: ENSMUSG00000070420
AA Change: E118G
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
38 |
150 |
2.1e-54 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200246
AA Change: E118G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142367
Gene: ENSMUSG00000070420
AA Change: E118G
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
38 |
150 |
1.9e-55 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that bears some similarity to zinc finger proteins, which are involved in DNA binding and protein-protein interactions. Multiple alternatively spliced transcript variants have been identified, but the full-length nature for most of them has not been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
T |
C |
4: 62,450,903 (GRCm39) |
|
probably benign |
Het |
| Abca9 |
T |
A |
11: 110,051,342 (GRCm39) |
D118V |
probably benign |
Het |
| Adgrb2 |
T |
A |
4: 129,912,598 (GRCm39) |
I1241N |
probably damaging |
Het |
| Arsb |
A |
G |
13: 93,926,608 (GRCm39) |
D126G |
probably benign |
Het |
| BB014433 |
G |
T |
8: 15,092,510 (GRCm39) |
N114K |
probably benign |
Het |
| Ccne2 |
T |
A |
4: 11,199,322 (GRCm39) |
V241E |
probably benign |
Het |
| Ccnjl |
A |
T |
11: 43,474,023 (GRCm39) |
K199N |
probably benign |
Het |
| Cyp2c55 |
A |
G |
19: 39,000,190 (GRCm39) |
T130A |
probably benign |
Het |
| Cyp2c70 |
A |
T |
19: 40,145,270 (GRCm39) |
N395K |
probably benign |
Het |
| Dst |
T |
C |
1: 34,199,733 (GRCm39) |
V67A |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,085,081 (GRCm39) |
R806H |
probably damaging |
Het |
| Extl3 |
G |
A |
14: 65,314,438 (GRCm39) |
P248L |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,784,555 (GRCm39) |
D205G |
probably damaging |
Het |
| Gga1 |
G |
T |
15: 78,767,555 (GRCm39) |
V98L |
possibly damaging |
Het |
| Gpr6 |
C |
T |
10: 40,946,812 (GRCm39) |
A257T |
probably damaging |
Het |
| Mex3c |
C |
T |
18: 73,722,960 (GRCm39) |
T351M |
probably damaging |
Het |
| Or10d4c |
T |
A |
9: 39,558,636 (GRCm39) |
S205T |
probably benign |
Het |
| Or10g3b |
A |
G |
14: 52,587,167 (GRCm39) |
V112A |
probably benign |
Het |
| Or5ar1 |
A |
T |
2: 85,671,706 (GRCm39) |
V143D |
probably benign |
Het |
| Or5g26 |
A |
T |
2: 85,494,700 (GRCm39) |
V26D |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,451,743 (GRCm39) |
Y412H |
probably damaging |
Het |
| Slc25a25 |
A |
T |
2: 32,309,172 (GRCm39) |
V75E |
probably benign |
Het |
| Sv2c |
A |
G |
13: 96,184,937 (GRCm39) |
C247R |
probably damaging |
Het |
| Trpm5 |
A |
T |
7: 142,636,728 (GRCm39) |
V403E |
probably benign |
Het |
| Wdr17 |
A |
G |
8: 55,140,746 (GRCm39) |
V202A |
probably damaging |
Het |
|
| Other mutations in Zscan25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02622:Zscan25
|
APN |
5 |
145,227,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02881:Zscan25
|
APN |
5 |
145,227,296 (GRCm39) |
missense |
probably benign |
0.25 |
|
PIT4445001:Zscan25
|
UTSW |
5 |
145,227,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1713:Zscan25
|
UTSW |
5 |
145,220,501 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1828:Zscan25
|
UTSW |
5 |
145,227,858 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2233:Zscan25
|
UTSW |
5 |
145,220,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3882:Zscan25
|
UTSW |
5 |
145,227,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4330:Zscan25
|
UTSW |
5 |
145,227,361 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4527:Zscan25
|
UTSW |
5 |
145,220,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4539:Zscan25
|
UTSW |
5 |
145,225,201 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4598:Zscan25
|
UTSW |
5 |
145,227,815 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4611:Zscan25
|
UTSW |
5 |
145,227,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4662:Zscan25
|
UTSW |
5 |
145,223,120 (GRCm39) |
missense |
unknown |
|
|
R6733:Zscan25
|
UTSW |
5 |
145,227,723 (GRCm39) |
splice site |
probably null |
|
|
R6751:Zscan25
|
UTSW |
5 |
145,227,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7161:Zscan25
|
UTSW |
5 |
145,223,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7912:Zscan25
|
UTSW |
5 |
145,227,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8746:Zscan25
|
UTSW |
5 |
145,224,157 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8936:Zscan25
|
UTSW |
5 |
145,223,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation