Incidental Mutation 'R6680:Zfp598'
| ID |
527471 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp598
|
| Ensembl Gene |
ENSMUSG00000041130 |
| Gene Name |
zinc finger protein 598 |
| Synonyms |
|
| MMRRC Submission |
044799-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R6680 (G1)
|
| Quality Score |
189.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
24888661-24900990 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24897660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 327
(N327S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047179]
|
| AlphaFold |
Q80YR4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047179
AA Change: N327S
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000038367
Gene: ENSMUSG00000041130
AA Change: N327S
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (35/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
A |
G |
17: 56,098,959 (GRCm39) |
K155R |
probably benign |
Het |
| Ankrd31 |
T |
A |
13: 96,967,117 (GRCm39) |
|
probably null |
Het |
| AW011738 |
A |
G |
4: 156,288,182 (GRCm39) |
|
probably benign |
Het |
| Btnl12 |
T |
C |
16: 37,676,536 (GRCm39) |
D77G |
probably benign |
Het |
| Ccl3 |
A |
G |
11: 83,539,132 (GRCm39) |
S76P |
probably benign |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Dnaaf10 |
T |
C |
11: 17,179,857 (GRCm39) |
L286P |
probably damaging |
Het |
| Fat2 |
G |
T |
11: 55,201,684 (GRCm39) |
Y463* |
probably null |
Het |
| Frem3 |
A |
G |
8: 81,395,949 (GRCm39) |
T1915A |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,293,048 (GRCm39) |
Q4162R |
probably benign |
Het |
| Krt87 |
C |
T |
15: 101,331,859 (GRCm39) |
R293H |
probably damaging |
Het |
| Mipep |
A |
G |
14: 61,025,672 (GRCm39) |
I143V |
possibly damaging |
Het |
| Mrc2 |
C |
T |
11: 105,216,579 (GRCm39) |
R123C |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Ndc80 |
T |
C |
17: 71,824,540 (GRCm39) |
K223R |
probably null |
Het |
| Nudt16l2 |
A |
G |
9: 105,020,773 (GRCm39) |
S163P |
probably damaging |
Het |
| Nuf2 |
A |
C |
1: 169,342,578 (GRCm39) |
|
probably null |
Het |
| Omd |
T |
C |
13: 49,743,004 (GRCm39) |
V18A |
possibly damaging |
Het |
| Or51a39 |
T |
A |
7: 102,363,522 (GRCm39) |
I33F |
possibly damaging |
Het |
| Or8g21 |
T |
C |
9: 38,905,954 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or8k53 |
T |
A |
2: 86,177,589 (GRCm39) |
I174F |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,974,603 (GRCm39) |
S1384G |
probably damaging |
Het |
| Slc22a28 |
A |
G |
19: 8,078,757 (GRCm39) |
S311P |
probably benign |
Het |
| Sox6 |
C |
T |
7: 115,076,218 (GRCm39) |
E765K |
possibly damaging |
Het |
| Tas2r106 |
A |
T |
6: 131,655,437 (GRCm39) |
I138K |
probably damaging |
Het |
| Tbx15 |
T |
A |
3: 99,220,389 (GRCm39) |
Y54* |
probably null |
Het |
| Tulp4 |
T |
G |
17: 6,189,312 (GRCm39) |
W45G |
probably damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,370,154 (GRCm39) |
Y433H |
probably damaging |
Het |
| Usp13 |
T |
C |
3: 32,935,618 (GRCm39) |
V348A |
probably damaging |
Het |
| Vezf1 |
T |
C |
11: 87,972,410 (GRCm39) |
I439T |
probably benign |
Het |
| Vmn2r93 |
C |
A |
17: 18,536,920 (GRCm39) |
Y534* |
probably null |
Het |
| Zfp579 |
A |
G |
7: 4,996,501 (GRCm39) |
L470P |
probably damaging |
Het |
| Zscan4d |
A |
T |
7: 10,896,366 (GRCm39) |
S335T |
possibly damaging |
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 |
|
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 |
|
|
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'- CCCTTGTGGATCGTAAGCTG -3'
(R):5'- AAGAAAATTCTACTTGCTGGGC -3'
Sequencing Primer
(F):5'- TGGAGAAGCCTCTGCCCTC -3'
(R):5'- TGGGCAAACACTGTTGCCAC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation