Incidental Mutation 'RF058:Zfp598'
ID |
605339 |
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 # |
RF058 (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: 98.7%
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110021N24Rik |
GAGCGCGGCC |
G |
4: 108,637,826 (GRCm39) |
|
probably benign |
Het |
5430401F13Rik |
AAGGAAAAGGTGGCCAG |
AAGGAAAAGGTGGCCAGCAAAAACAGAGAGGAAAAGGTGGCCAG |
6: 131,529,850 (GRCm39) |
|
probably benign |
Het |
5430401F13Rik |
CAG |
CAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,864 (GRCm39) |
|
probably benign |
Het |
Alg9 |
GGC |
GGCTGC |
9: 50,686,727 (GRCm39) |
|
probably benign |
Het |
Arid1b |
CGGGGG |
CGGGGGGGG |
17: 5,045,858 (GRCm39) |
|
probably benign |
Het |
Chd4 |
GC |
GCTCCCTC |
6: 125,099,094 (GRCm39) |
|
probably benign |
Het |
Chga |
CAG |
CAGAAG |
12: 102,527,675 (GRCm39) |
|
probably benign |
Het |
Cort |
GCCCACTCGT |
G |
4: 149,209,869 (GRCm39) |
|
probably benign |
Het |
Flywch1 |
GT |
GTGGGGAGGCTACGTGCTCACCCGCTCCTGGTAT |
17: 23,981,151 (GRCm39) |
|
probably null |
Het |
Gab3 |
TCT |
TCTACT |
X: 74,043,608 (GRCm39) |
|
probably benign |
Het |
Gabre |
C |
CCGGCTG |
X: 71,313,669 (GRCm39) |
|
probably benign |
Het |
Haus4 |
CACTTAAAAAAAAAA |
CA |
14: 54,787,492 (GRCm39) |
|
probably benign |
Het |
Il2 |
AG |
AGGGCTTGAAGTGG |
3: 37,179,966 (GRCm39) |
|
probably benign |
Het |
Il2 |
CTTGAAGTGG |
CTTGAAGTGGGGATTGAAGTGG |
3: 37,179,970 (GRCm39) |
|
probably benign |
Het |
Kri1 |
TCCTCCTCC |
TC |
9: 21,192,362 (GRCm39) |
|
probably null |
Het |
Krtap28-10 |
ACAGCCACCACAGCCACAGCCACCACAGC |
ACAGCCACCACAGCCCCAGCCACCACAGCCACAGCCACCACAGC |
1: 83,019,983 (GRCm39) |
|
probably benign |
Het |
Mbd1 |
CGTCTTCGTCTGCATCTGCATCTGCA |
C |
18: 74,406,680 (GRCm39) |
|
probably null |
Het |
Nefh |
CCTC |
CCTCGCCTGGGGACTTGGACTC |
11: 4,891,021 (GRCm39) |
|
probably benign |
Het |
Rtbdn |
GCAGCG |
GCAGCGACAGCG |
8: 85,682,801 (GRCm39) |
|
probably benign |
Het |
Setd1a |
GTGGTGGT |
GTGGTGGTATTGGTGGT |
7: 127,384,490 (GRCm39) |
|
probably benign |
Het |
Treml1 |
ACCT |
A |
17: 48,666,975 (GRCm39) |
|
probably null |
Het |
Triobp |
CTCCCTGTGCCCAAC |
CTCCCTGTGCCCAACTGAACAACCCCAGGATTCCCTGTGCCCAAC |
15: 78,851,244 (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 |
|
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'- TAGTTGGGATCACACTGAAGC -3'
(R):5'- CATCGCTTTGCAGAAAGTCC -3'
Sequencing Primer
(F):5'- GGGATCACACTGAAGCTCTTATGTC -3'
(R):5'- CCTTGATAGACTGGATAAGCTGC -3'
|
Posted On |
2019-12-04 |