Incidental Mutation 'IGL02881:Zscan25'
| ID |
362790 |
| 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: 0.151)
|
| Stock # |
IGL02881
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
145217310-145228088 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 145227296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 320
(L320R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091664
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094116]
[ENSMUST00000199563]
[ENSMUST00000200246]
|
| AlphaFold |
B2RX31 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094116
AA Change: L320R
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000091664
Gene: ENSMUSG00000070420
AA Change: L320R
| 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 |
noncoding transcript
Transcript: ENSMUST00000197174
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199563
|
| SMART Domains |
Protein: ENSMUSP00000143449
Gene: ENSMUSG00000070420
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
38 |
150 |
2.1e-54 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200246
|
| SMART Domains |
Protein: ENSMUSP00000142367
Gene: ENSMUSG00000070420
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
C |
A |
8: 13,605,999 (GRCm39) |
|
probably benign |
Het |
| Aatf |
A |
G |
11: 84,362,115 (GRCm39) |
|
probably benign |
Het |
| Asap3 |
A |
T |
4: 135,966,548 (GRCm39) |
H542L |
probably benign |
Het |
| Cyp4v3 |
A |
T |
8: 45,761,753 (GRCm39) |
L389H |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,932,944 (GRCm39) |
E3605K |
probably damaging |
Het |
| Fry |
C |
T |
5: 150,282,516 (GRCm39) |
T347M |
probably damaging |
Het |
| Glul |
C |
A |
1: 153,782,862 (GRCm39) |
T191K |
probably benign |
Het |
| Grsf1 |
A |
T |
5: 88,821,689 (GRCm39) |
L125Q |
probably damaging |
Het |
| Hfm1 |
A |
G |
5: 107,022,118 (GRCm39) |
I976T |
probably damaging |
Het |
| Itgb5 |
A |
G |
16: 33,740,275 (GRCm39) |
T462A |
probably benign |
Het |
| Lmna |
G |
T |
3: 88,410,233 (GRCm39) |
R60S |
possibly damaging |
Het |
| Mrpl10 |
T |
A |
11: 96,937,899 (GRCm39) |
V89D |
probably damaging |
Het |
| Muc5b |
C |
T |
7: 141,411,449 (GRCm39) |
T1465I |
unknown |
Het |
| Myh15 |
A |
C |
16: 48,937,628 (GRCm39) |
D743A |
possibly damaging |
Het |
| Noxo1 |
C |
A |
17: 24,918,409 (GRCm39) |
L190I |
probably damaging |
Het |
| Noxo1 |
T |
A |
17: 24,918,410 (GRCm39) |
L190Q |
probably damaging |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Or2aj5 |
A |
T |
16: 19,425,050 (GRCm39) |
Y123N |
probably damaging |
Het |
| Or4c121 |
T |
A |
2: 89,023,985 (GRCm39) |
Y131F |
probably damaging |
Het |
| Or5m13 |
A |
G |
2: 85,748,460 (GRCm39) |
S64G |
probably benign |
Het |
| Or8h8 |
A |
G |
2: 86,753,057 (GRCm39) |
V273A |
possibly damaging |
Het |
| Pfkfb4 |
A |
G |
9: 108,836,364 (GRCm39) |
T131A |
probably null |
Het |
| Phf20l1 |
T |
C |
15: 66,466,829 (GRCm39) |
|
probably null |
Het |
| Pnliprp2 |
A |
G |
19: 58,759,878 (GRCm39) |
D363G |
probably benign |
Het |
| Prpf6 |
C |
T |
2: 181,273,864 (GRCm39) |
T336I |
probably benign |
Het |
| Rcc1 |
C |
T |
4: 132,065,067 (GRCm39) |
R139H |
probably benign |
Het |
| Sae1 |
T |
G |
7: 16,093,043 (GRCm39) |
K221N |
probably damaging |
Het |
| Slc45a1 |
T |
C |
4: 150,722,987 (GRCm39) |
K299R |
probably benign |
Het |
| Slco1a8 |
T |
C |
6: 141,917,969 (GRCm39) |
R636G |
probably benign |
Het |
| Smad2 |
C |
A |
18: 76,432,851 (GRCm39) |
|
probably null |
Het |
| Tmem117 |
T |
C |
15: 94,777,306 (GRCm39) |
F152S |
probably damaging |
Het |
| Tmem232 |
C |
T |
17: 65,757,365 (GRCm39) |
C276Y |
probably damaging |
Het |
| Tor1b |
A |
T |
2: 30,843,865 (GRCm39) |
K47* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,740,147 (GRCm39) |
V3464A |
probably benign |
Het |
| Ube3b |
A |
G |
5: 114,550,945 (GRCm39) |
T870A |
possibly damaging |
Het |
|
| Other mutations in Zscan25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00309:Zscan25
|
APN |
5 |
145,220,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02622:Zscan25
|
APN |
5 |
145,227,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-12-18 |
Incidental Mutation