Incidental Mutation 'R4330:Zscan25'
ID |
324562 |
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: 0.151)
|
Stock # |
R4330 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
145217310-145228088 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 145227361 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 342
(F342I)
|
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: F342I
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000091664 Gene: ENSMUSG00000070420 AA Change: F342I
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
T |
A |
8: 44,079,287 (GRCm39) |
K312N |
probably benign |
Het |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
Cdh10 |
G |
A |
15: 19,000,045 (GRCm39) |
V497I |
probably damaging |
Het |
Chd4 |
T |
C |
6: 125,078,565 (GRCm39) |
V229A |
probably benign |
Het |
Cnr2 |
T |
A |
4: 135,644,237 (GRCm39) |
I105N |
possibly damaging |
Het |
Dnai1 |
A |
G |
4: 41,637,966 (GRCm39) |
T701A |
probably damaging |
Het |
Eri1 |
G |
A |
8: 35,936,383 (GRCm39) |
R313* |
probably null |
Het |
Hrh3 |
T |
C |
2: 179,741,665 (GRCm39) |
|
probably benign |
Het |
Hs3st5 |
T |
A |
10: 36,708,726 (GRCm39) |
V87D |
probably benign |
Het |
Jmy |
G |
C |
13: 93,635,390 (GRCm39) |
P142R |
probably damaging |
Het |
Jmy |
C |
A |
13: 93,635,781 (GRCm39) |
D12Y |
probably damaging |
Het |
Mfsd4a |
A |
C |
1: 131,981,291 (GRCm39) |
M320R |
possibly damaging |
Het |
Myocd |
A |
T |
11: 65,114,590 (GRCm39) |
H49Q |
probably benign |
Het |
Nlk |
A |
G |
11: 78,481,774 (GRCm39) |
I229T |
possibly damaging |
Het |
Rabl2 |
T |
C |
15: 89,471,137 (GRCm39) |
D66G |
probably benign |
Het |
Ramp1 |
C |
T |
1: 91,151,067 (GRCm39) |
T144I |
possibly damaging |
Het |
Rhbdf2 |
T |
C |
11: 116,492,782 (GRCm39) |
K413R |
probably benign |
Het |
Scpep1 |
G |
A |
11: 88,826,729 (GRCm39) |
Q236* |
probably null |
Het |
Stil |
A |
G |
4: 114,862,176 (GRCm39) |
R40G |
probably damaging |
Het |
Syt7 |
T |
C |
19: 10,399,162 (GRCm39) |
V86A |
probably damaging |
Het |
Ubr2 |
A |
T |
17: 47,278,204 (GRCm39) |
L711Q |
probably null |
Het |
Vmn1r78 |
T |
A |
7: 11,886,386 (GRCm39) |
|
probably null |
Het |
Zfp280d |
C |
T |
9: 72,203,261 (GRCm39) |
T3I |
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 |
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 |
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'- TGCTTTGTCACACAGGTGC -3'
(R):5'- ACACACATAGGGCCTCTTGC -3'
Sequencing Primer
(F):5'- TGTCACACAGGTGCTGGGAG -3'
(R):5'- GCCTCTTGCCCAGGTGG -3'
|
Posted On |
2015-06-24 |