Incidental Mutation 'RF053:Zfp598'
| ID |
605190 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp598
|
| Ensembl Gene |
ENSMUSG00000041130 |
| Gene Name |
zinc finger protein 598 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
RF053 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
24888661-24900990 bp(+) (GRCm39) |
| Type of Mutation |
small insertion (2 aa in frame mutation) |
| DNA Base Change (assembly) |
CCCACCACCACAACCACCACCACCACCACCAC to CCCACCACCACCACCACAACCACCACCACCACCACCAC
at 24899735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007236]
[ENSMUST00000047179]
|
| AlphaFold |
Q80YR4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007236
|
| SMART Domains |
Protein: ENSMUSP00000007236
Gene: ENSMUSG00000007021
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
|
Pfam:MARVEL
|
20 |
166 |
4.1e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047179
|
| SMART Domains |
Protein: ENSMUSP00000038367
Gene: ENSMUSG00000041130
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
|
RING
|
27 |
66 |
4.73e-1 |
SMART |
|
ZnF_C2H2
|
115 |
140 |
9.46e0 |
SMART |
|
low complexity region
|
144 |
153 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
185 |
208 |
5.2e0 |
SMART |
|
ZnF_C2H2
|
209 |
237 |
7.11e0 |
SMART |
|
ZnF_C2H2
|
238 |
268 |
6.47e1 |
SMART |
|
low complexity region
|
311 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
344 |
356 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
581 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
663 |
N/A |
INTRINSIC |
|
low complexity region
|
668 |
683 |
N/A |
INTRINSIC |
|
low complexity region
|
694 |
748 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
869 |
890 |
8.84e1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This protein and Grb10-interacting GYF protein 2 have been identified as a components of the mammalian 4EHP (m4EHP) complex. The complex is thought to function as a translation repressor in embryonic development. [provided by RefSeq, Oct 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
TGGCTGCTG |
TGGCTGCTGGGGCTGCTG |
1: 82,891,294 (GRCm39) |
|
probably benign |
Het |
| Abra |
TGGC |
T |
15: 41,729,695 (GRCm39) |
|
probably benign |
Het |
| Blm |
CTCCTCCTCCTC |
CTCCTCCTCCTCATCCTCCTCCTC |
7: 80,162,669 (GRCm39) |
|
probably benign |
Het |
| Bmp5 |
TGAGGAG |
T |
9: 75,683,656 (GRCm39) |
|
probably benign |
Het |
| Cngb1 |
GGCTCTGGCTCTGGCTCTGGCTCTG |
GG |
8: 96,030,276 (GRCm39) |
|
probably null |
Het |
| Cyb5r4 |
GGATGTGACAGACACACTGCCCAG |
GGATGTGACAGACACACTGCCCAGCGATGTGACAGACACACTGCCCAG |
9: 86,922,475 (GRCm39) |
|
probably benign |
Het |
| Ehbp1l1 |
TCACACCACC |
T |
19: 5,766,030 (GRCm39) |
|
probably benign |
Het |
| Kdm3a |
TTTTT |
TTTTTT |
6: 71,609,033 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CAGCCACCACAGC |
CAGCCACCACAGCCAAAGCCACCACAGC |
1: 83,019,999 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
CA |
CAGAA |
X: 70,162,458 (GRCm39) |
|
probably benign |
Het |
| Map1a |
CTCCAGCTCCAGCTCCAGCTCCAGCTCCA |
CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCAGCTCCA |
2: 121,136,771 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,414 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GACTTGGCCTCACCT |
GACTTGGCCTCACCTCACCACTTGGCCTCACCT |
11: 4,891,014 (GRCm39) |
|
probably null |
Het |
| Polr1has |
CACCAC |
CACCACCACCACCACCACCTCTACCAC |
17: 37,275,958 (GRCm39) |
|
probably benign |
Het |
| Rap1gds1 |
TCATTTATTATGACCATAC |
TC |
3: 138,647,418 (GRCm39) |
|
probably null |
Het |
| Tcof1 |
C |
CAGA |
18: 60,968,819 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
AGC |
AGCCGC |
17: 48,097,039 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
TGCT |
TGCTGCTGCTGCTGCGGCT |
15: 72,673,177 (GRCm39) |
|
probably benign |
Het |
| Usp2 |
C |
CTCATGTGACCTGTTCTTCACTTAA |
9: 44,000,426 (GRCm39) |
|
probably benign |
Het |
| Zfp69 |
GTGCCAGGGGTCTCTCCATCATGGGATCCTGCTGCAGGGATGCCAGGGGTCTCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTCGCTTCATCATGGGATCCTGTTGCAGTGGTGCCAGGGGTCGCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTC |
GTGCCAGGGGTCTCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTCGCTTCATCATGGGATCCTGTTGCAGTGGTGCCAGGGGTCGCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTC |
4: 120,804,544 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Zfp598 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01358:Zfp598
|
APN |
17 |
24,900,398 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02118:Zfp598
|
APN |
17 |
24,896,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02178:Zfp598
|
APN |
17 |
24,896,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02591:Zfp598
|
APN |
17 |
24,896,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03061:Zfp598
|
APN |
17 |
24,898,566 (GRCm39) |
missense |
probably benign |
0.03 |
|
FR4304:Zfp598
|
UTSW |
17 |
24,899,749 (GRCm39) |
small insertion |
probably benign |
|
|
FR4340:Zfp598
|
UTSW |
17 |
24,899,757 (GRCm39) |
small insertion |
probably benign |
|
|
FR4340:Zfp598
|
UTSW |
17 |
24,898,346 (GRCm39) |
small deletion |
probably benign |
|
|
FR4342:Zfp598
|
UTSW |
17 |
24,899,754 (GRCm39) |
small insertion |
probably benign |
|
|
FR4449:Zfp598
|
UTSW |
17 |
24,899,759 (GRCm39) |
small insertion |
probably benign |
|
|
FR4449:Zfp598
|
UTSW |
17 |
24,899,750 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Zfp598
|
UTSW |
17 |
24,899,750 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Zfp598
|
UTSW |
17 |
24,899,749 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Zfp598
|
UTSW |
17 |
24,899,753 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Zfp598
|
UTSW |
17 |
24,899,765 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Zfp598
|
UTSW |
17 |
24,899,750 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Zfp598
|
UTSW |
17 |
24,899,756 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Zfp598
|
UTSW |
17 |
24,898,346 (GRCm39) |
small deletion |
probably benign |
|
|
FR4976:Zfp598
|
UTSW |
17 |
24,899,756 (GRCm39) |
small insertion |
probably benign |
|
|
R0309:Zfp598
|
UTSW |
17 |
24,897,558 (GRCm39) |
splice site |
probably benign |
|
|
R1295:Zfp598
|
UTSW |
17 |
24,898,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1296:Zfp598
|
UTSW |
17 |
24,898,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1471:Zfp598
|
UTSW |
17 |
24,899,046 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1523:Zfp598
|
UTSW |
17 |
24,897,603 (GRCm39) |
missense |
probably null |
1.00 |
|
R1819:Zfp598
|
UTSW |
17 |
24,900,104 (GRCm39) |
unclassified |
probably benign |
|
|
R2001:Zfp598
|
UTSW |
17 |
24,888,898 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2080:Zfp598
|
UTSW |
17 |
24,898,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4447:Zfp598
|
UTSW |
17 |
24,895,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5086:Zfp598
|
UTSW |
17 |
24,899,872 (GRCm39) |
unclassified |
probably benign |
|
|
R5923:Zfp598
|
UTSW |
17 |
24,896,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6191:Zfp598
|
UTSW |
17 |
24,896,850 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6680:Zfp598
|
UTSW |
17 |
24,897,660 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7438:Zfp598
|
UTSW |
17 |
24,896,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7870:Zfp598
|
UTSW |
17 |
24,898,304 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9513:Zfp598
|
UTSW |
17 |
24,896,568 (GRCm39) |
missense |
probably damaging |
0.97 |
|
RF009:Zfp598
|
UTSW |
17 |
24,899,761 (GRCm39) |
small insertion |
probably benign |
|
|
RF016:Zfp598
|
UTSW |
17 |
24,899,745 (GRCm39) |
small insertion |
probably benign |
|
|
RF018:Zfp598
|
UTSW |
17 |
24,899,745 (GRCm39) |
small insertion |
probably benign |
|
|
RF058:Zfp598
|
UTSW |
17 |
24,899,735 (GRCm39) |
small insertion |
probably benign |
|
|
RF061:Zfp598
|
UTSW |
17 |
24,899,744 (GRCm39) |
small insertion |
probably benign |
|
|
RF064:Zfp598
|
UTSW |
17 |
24,899,757 (GRCm39) |
small insertion |
probably benign |
|
|
Z1088:Zfp598
|
UTSW |
17 |
24,899,184 (GRCm39) |
small insertion |
probably benign |
|
|
Z1177:Zfp598
|
UTSW |
17 |
24,898,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGGATCACACTGAAGCTC -3'
(R):5'- CCTCATCGCTTTGCAGAAAGTC -3'
Sequencing Primer
(F):5'- GGGATCACACTGAAGCTCTTATGTC -3'
(R):5'- CCTTGATAGACTGGATAAGCTGC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation