Incidental Mutation 'R3882:Zscan25'
| ID |
312812 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3882 (G1)
|
| Quality Score |
160 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
145217310-145228088 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 145227862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 509
(G509C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091664
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094116]
[ENSMUST00000199563]
[ENSMUST00000200246]
|
| AlphaFold |
B2RX31 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094116
AA Change: G509C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091664
Gene: ENSMUSG00000070420
AA Change: G509C
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
97% (33/34) |
| 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 |
|---|
| Acy1 |
G |
T |
9: 106,312,708 (GRCm39) |
T181K |
possibly damaging |
Het |
| Adcy4 |
A |
G |
14: 56,012,003 (GRCm39) |
F581L |
probably benign |
Het |
| Amhr2 |
G |
A |
15: 102,354,333 (GRCm39) |
G48D |
probably damaging |
Het |
| Angptl4 |
G |
A |
17: 33,996,008 (GRCm39) |
P323S |
possibly damaging |
Het |
| Arhgef17 |
A |
G |
7: 100,525,661 (GRCm39) |
F1979S |
possibly damaging |
Het |
| Bltp2 |
T |
A |
11: 78,153,526 (GRCm39) |
W24R |
probably damaging |
Het |
| C2 |
T |
C |
17: 35,092,465 (GRCm39) |
T191A |
probably benign |
Het |
| Cmya5 |
T |
A |
13: 93,227,727 (GRCm39) |
T2454S |
probably benign |
Het |
| Dstn |
A |
G |
2: 143,784,107 (GRCm39) |
E150G |
probably benign |
Het |
| Dync1h1 |
G |
T |
12: 110,595,492 (GRCm39) |
V1444F |
probably benign |
Het |
| Eif3f |
T |
C |
7: 108,540,162 (GRCm39) |
V319A |
possibly damaging |
Het |
| Gpha2 |
T |
C |
19: 6,276,919 (GRCm39) |
|
probably null |
Het |
| Hps5 |
A |
G |
7: 46,421,420 (GRCm39) |
V648A |
possibly damaging |
Het |
| Jup |
A |
G |
11: 100,269,207 (GRCm39) |
V402A |
probably benign |
Het |
| Kif18a |
A |
G |
2: 109,137,319 (GRCm39) |
N517S |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,927,480 (GRCm39) |
I874N |
probably damaging |
Het |
| Lepr |
T |
A |
4: 101,672,462 (GRCm39) |
V1162E |
probably damaging |
Het |
| Man2a2 |
A |
T |
7: 80,012,063 (GRCm39) |
V698D |
possibly damaging |
Het |
| Miip |
A |
C |
4: 147,945,509 (GRCm39) |
S376A |
possibly damaging |
Het |
| Nsun7 |
G |
A |
5: 66,435,983 (GRCm39) |
R285Q |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,031,517 (GRCm39) |
V281A |
probably benign |
Het |
| Paxip1 |
C |
T |
5: 27,953,837 (GRCm39) |
R953Q |
probably damaging |
Het |
| Pcdha8 |
C |
A |
18: 37,126,099 (GRCm39) |
L194I |
probably damaging |
Het |
| Pcdha8 |
A |
G |
18: 37,126,624 (GRCm39) |
I369V |
probably benign |
Het |
| Pcdhga10 |
C |
A |
18: 37,880,494 (GRCm39) |
A85E |
possibly damaging |
Het |
| Ppfibp1 |
A |
G |
6: 146,899,719 (GRCm39) |
R137G |
possibly damaging |
Het |
| Rcor1 |
C |
T |
12: 111,070,187 (GRCm39) |
A230V |
probably damaging |
Het |
| Scn3a |
T |
C |
2: 65,312,623 (GRCm39) |
M1191V |
probably benign |
Het |
| Skor2 |
A |
G |
18: 76,950,384 (GRCm39) |
D904G |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,662,313 (GRCm39) |
V706E |
probably benign |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Vmn1r83 |
A |
T |
7: 12,055,329 (GRCm39) |
C243S |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,092,536 (GRCm39) |
C1083S |
possibly damaging |
Het |
| Zfp952 |
G |
T |
17: 33,220,949 (GRCm39) |
E18* |
probably null |
Het |
| Zfr |
G |
A |
15: 12,162,319 (GRCm39) |
R823H |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAGTGCTCAGACTGCTGG -3'
(R):5'- TCCTACTTGAGCACGTTCTG -3'
Sequencing Primer
(F):5'- TCAGACTGCTGGAAGGGCTTC -3'
(R):5'- GTTCTGCTGTCCCTCACTGG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation