Incidental Mutation 'RF061:Zfp598'
| ID |
605422 |
| 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 # |
RF061 (G1)
|
| Quality Score |
214.458 |
|
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) |
ACAACCAC to ACAACCACAACCAC
at 24899744 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: 98.7%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
ACTT |
ACTTACTT |
8: 125,566,570 (GRCm39) |
|
probably null |
Het |
| Abi3bp |
GCCCACGACCC |
GCCCACGACCCACGACCC |
16: 56,447,950 (GRCm39) |
|
probably null |
Het |
| Ankhd1 |
GGCGGC |
GGCGGCCGCGGC |
18: 36,693,974 (GRCm39) |
|
probably benign |
Het |
| Ankrd24 |
GAGGC |
GAGGCGGAGGCATAGGC |
10: 81,479,401 (GRCm39) |
|
probably null |
Het |
| Bpifb4 |
A |
ACCTCCAC |
2: 153,799,048 (GRCm39) |
|
probably benign |
Het |
| Chga |
CAG |
CAGAAG |
12: 102,527,672 (GRCm39) |
|
probably benign |
Het |
| Chga |
G |
GCAC |
12: 102,527,686 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
ACACTGCCCAGGGA |
ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGA |
9: 86,922,488 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
CAGTTCCTACCTCGTT |
CAGTTCCTACCTCGTTTTGGGGGCGGAGCAAAGTTCCTACCTCGTT |
9: 20,821,426 (GRCm39) |
|
probably null |
Het |
| Fbrsl1 |
GTGCTGGTGCGT |
GTGCTGGTGCGTCTGCTGGTGCGT |
5: 110,525,997 (GRCm39) |
|
probably benign |
Het |
| Gabre |
GCTCCG |
GCTCCGACTCCG |
X: 71,313,654 (GRCm39) |
|
probably benign |
Het |
| Hsdl2 |
AG |
AGCAGCAGCCACAGCTGCTG |
4: 59,610,657 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GGG |
GGGGCTTGAAGTGGG |
3: 37,179,990 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CCACCACAGC |
CCACCACAGCCACAGACACCACAGC |
1: 83,020,002 (GRCm39) |
|
probably benign |
Het |
| Lrch1 |
GCTGGTGGT |
G |
14: 75,184,995 (GRCm39) |
|
probably null |
Het |
| Lrch1 |
GGTGGTGTTG |
GG |
14: 75,185,007 (GRCm39) |
|
probably null |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,456 (GRCm39) |
|
probably benign |
Het |
| Map1a |
TGGCTCCAGCTCCAGCTCCAGCTCCAGCTCC |
TGGCTCCAGCTCCAGCTCCAGCTCCAGCTCCGGCTCCAGCTCCAGCTCCAGCTCCAGCTCC |
2: 121,136,768 (GRCm39) |
|
probably benign |
Het |
| Or10n7-ps1 |
GA |
GATATA |
9: 39,598,049 (GRCm39) |
|
probably null |
Het |
| Pdcd11 |
AGGAGGAGG |
AG |
19: 47,101,884 (GRCm39) |
|
probably null |
Het |
| Pknox2 |
ACACACACACACACACTCAC |
ACAC |
9: 36,820,905 (GRCm39) |
|
probably benign |
Het |
| Rfx5 |
A |
T |
3: 94,863,070 (GRCm39) |
K54I |
probably damaging |
Het |
| Rps19 |
AAAAAAT |
AAAAAATAAAAAT |
7: 24,588,605 (GRCm39) |
|
probably benign |
Het |
| Rragd |
CATGCCTTTCATTCTA |
C |
4: 32,995,150 (GRCm39) |
|
probably benign |
Het |
| Sbp |
GACAACA |
GACAACACAGATGCTAACAACA |
17: 24,164,351 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
CTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
10: 86,702,622 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
CAG |
CAGGAG |
17: 48,097,017 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
GGCCCCCGC |
GGC |
3: 103,187,533 (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 |
|
|
RF053:Zfp598
|
UTSW |
17 |
24,899,735 (GRCm39) |
small insertion |
probably benign |
|
|
RF058:Zfp598
|
UTSW |
17 |
24,899,735 (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'- AACAGGGCTAGTTGGGATCAC -3'
(R):5'- TGCAGAAAGTCCTTGATAGACTGG -3'
Sequencing Primer
(F):5'- TTGGGATCACACTGAAGCTC -3'
(R):5'- CCTTGATAGACTGGATAAGCTGC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation