Incidental Mutation 'R6733:Zscan25'
ID |
530136 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zscan25
|
Ensembl Gene |
ENSMUSG00000070420 |
Gene Name |
zinc finger and SCAN domain containing 25 |
Synonyms |
Zfp498, EG666311 |
MMRRC Submission |
044851-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.151)
|
Stock # |
R6733 (G1)
|
Quality Score |
189.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
145217310-145228088 bp(+) (GRCm39) |
Type of Mutation |
splice site (4451 bp from exon) |
DNA Base Change (assembly) |
T to A
at 145227723 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142367
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094116]
[ENSMUST00000199563]
[ENSMUST00000200246]
|
AlphaFold |
B2RX31 |
Predicted Effect |
probably null
Transcript: ENSMUST00000094116
AA Change: C462*
|
SMART Domains |
Protein: ENSMUSP00000091664 Gene: ENSMUSG00000070420 AA Change: C462*
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 null
Transcript: ENSMUST00000200246
|
SMART Domains |
Protein: ENSMUSP00000142367 Gene: ENSMUSG00000070420
Domain | Start | End | E-Value | Type |
SCAN
|
38 |
150 |
1.9e-55 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afdn |
C |
T |
17: 14,043,615 (GRCm39) |
H358Y |
probably benign |
Het |
Aoc1l2 |
T |
C |
6: 48,907,464 (GRCm39) |
S155P |
probably damaging |
Het |
Ccdc125 |
T |
A |
13: 100,830,995 (GRCm39) |
M394K |
probably benign |
Het |
Cfd |
C |
A |
10: 79,727,636 (GRCm39) |
H103Q |
probably damaging |
Het |
Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
Dedd2 |
T |
C |
7: 24,903,332 (GRCm39) |
E209G |
probably benign |
Het |
Dnah3 |
A |
G |
7: 119,522,197 (GRCm39) |
S3999P |
probably benign |
Het |
Fer1l5 |
T |
C |
1: 36,447,753 (GRCm39) |
|
probably null |
Het |
H6pd |
A |
T |
4: 150,069,578 (GRCm39) |
|
probably null |
Het |
Il25 |
T |
C |
14: 55,170,490 (GRCm39) |
I21T |
probably benign |
Het |
Kmt2c |
C |
T |
5: 25,614,291 (GRCm39) |
S143N |
probably damaging |
Het |
Marveld3 |
T |
C |
8: 110,688,681 (GRCm39) |
D20G |
possibly damaging |
Het |
Msl1 |
A |
G |
11: 98,690,882 (GRCm39) |
E122G |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,919,421 (GRCm39) |
V6861E |
probably damaging |
Het |
Or5b97 |
A |
T |
19: 12,878,605 (GRCm39) |
C180S |
probably damaging |
Het |
Phc1 |
A |
T |
6: 122,313,845 (GRCm39) |
M29K |
possibly damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,375,126 (GRCm39) |
|
probably null |
Het |
Prl5a1 |
G |
T |
13: 28,333,919 (GRCm39) |
V141F |
possibly damaging |
Het |
Psg20 |
A |
T |
7: 18,408,547 (GRCm39) |
V391D |
probably damaging |
Het |
Ptprh |
T |
C |
7: 4,606,043 (GRCm39) |
|
probably null |
Het |
Rasa3 |
T |
C |
8: 13,630,037 (GRCm39) |
E580G |
possibly damaging |
Het |
Ror1 |
T |
C |
4: 100,283,252 (GRCm39) |
V439A |
probably benign |
Het |
Rsl1 |
A |
G |
13: 67,325,206 (GRCm39) |
T81A |
probably benign |
Het |
Sgpp1 |
G |
C |
12: 75,782,243 (GRCm39) |
P32R |
probably benign |
Het |
Slc22a8 |
T |
C |
19: 8,586,656 (GRCm39) |
L389P |
probably benign |
Het |
Slc6a11 |
A |
G |
6: 114,111,859 (GRCm39) |
Y142C |
probably damaging |
Het |
Syt9 |
C |
T |
7: 107,024,503 (GRCm39) |
T132I |
probably damaging |
Het |
Thop1 |
T |
A |
10: 80,917,246 (GRCm39) |
I583N |
probably damaging |
Het |
Tom1l1 |
A |
G |
11: 90,575,886 (GRCm39) |
|
probably null |
Het |
Unk |
A |
G |
11: 115,941,581 (GRCm39) |
D276G |
probably damaging |
Het |
Zfp942 |
C |
A |
17: 22,147,733 (GRCm39) |
E299* |
probably null |
Het |
Zkscan6 |
A |
G |
11: 65,719,461 (GRCm39) |
T494A |
probably 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 |
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 |
|
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'- AGTGCTGGAAGACCTTCAGC -3'
(R):5'- TTAGTAGGCTCACTGCACCG -3'
Sequencing Primer
(F):5'- CTGGAAGACCTTCAGCCAGAG -3'
(R):5'- ACCTCTGGTTGAAGCTGC -3'
|
Posted On |
2018-08-01 |