Incidental Mutation 'IGL02178:Zfp598'
| ID |
283184 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp598
|
| Ensembl Gene |
ENSMUSG00000041130 |
| Gene Name |
zinc finger protein 598 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
IGL02178
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
24888661-24900990 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24896517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 198
(D198G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047179]
|
| AlphaFold |
Q80YR4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047179
AA Change: D198G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038367
Gene: ENSMUSG00000041130
AA Change: D198G
| 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 |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,384,418 (GRCm39) |
T516S |
possibly damaging |
Het |
| 6820408C15Rik |
T |
C |
2: 152,269,921 (GRCm39) |
|
probably benign |
Het |
| Ak5 |
T |
C |
3: 152,232,422 (GRCm39) |
D331G |
probably benign |
Het |
| Ar |
A |
G |
X: 97,349,044 (GRCm39) |
D675G |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,343,179 (GRCm39) |
D276G |
probably benign |
Het |
| Arhgef3 |
C |
T |
14: 26,987,486 (GRCm39) |
R40* |
probably null |
Het |
| Atp1b4 |
G |
T |
X: 37,421,695 (GRCm39) |
R293L |
possibly damaging |
Het |
| Borcs8 |
T |
C |
8: 70,617,897 (GRCm39) |
L85P |
probably damaging |
Het |
| Carmil1 |
T |
G |
13: 24,278,386 (GRCm39) |
K194N |
probably damaging |
Het |
| Catsper4 |
T |
A |
4: 133,954,637 (GRCm39) |
K4N |
probably benign |
Het |
| Ccdc30 |
T |
C |
4: 119,206,921 (GRCm39) |
|
probably benign |
Het |
| Cd101 |
A |
G |
3: 100,901,082 (GRCm39) |
S997P |
probably damaging |
Het |
| Cdkl5 |
G |
A |
X: 159,599,889 (GRCm39) |
T792I |
probably benign |
Het |
| Cep135 |
A |
G |
5: 76,743,321 (GRCm39) |
Y185C |
probably damaging |
Het |
| Clcn5 |
A |
G |
X: 7,052,563 (GRCm39) |
Y59H |
possibly damaging |
Het |
| Col6a1 |
A |
T |
10: 76,546,909 (GRCm39) |
I771N |
unknown |
Het |
| Crispld1 |
C |
T |
1: 17,832,327 (GRCm39) |
|
probably benign |
Het |
| Fbxl13 |
A |
G |
5: 21,825,718 (GRCm39) |
I128T |
possibly damaging |
Het |
| Gga1 |
T |
A |
15: 78,776,247 (GRCm39) |
M430K |
probably benign |
Het |
| Has2 |
A |
G |
15: 56,545,456 (GRCm39) |
Y49H |
probably damaging |
Het |
| Ivd |
A |
G |
2: 118,701,915 (GRCm39) |
I116V |
probably benign |
Het |
| Krt75 |
T |
C |
15: 101,481,226 (GRCm39) |
N183D |
probably benign |
Het |
| Map3k9 |
A |
T |
12: 81,790,611 (GRCm39) |
I314N |
probably damaging |
Het |
| Map6d1 |
T |
G |
16: 20,055,448 (GRCm39) |
E129D |
probably damaging |
Het |
| Mettl22 |
T |
C |
16: 8,296,146 (GRCm39) |
V145A |
probably benign |
Het |
| Muc5ac |
T |
A |
7: 141,359,184 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,461,802 (GRCm39) |
F1416L |
probably benign |
Het |
| Nlrc4 |
T |
C |
17: 74,753,838 (GRCm39) |
I182V |
probably damaging |
Het |
| Or5b21 |
T |
A |
19: 12,839,907 (GRCm39) |
I256N |
possibly damaging |
Het |
| Or7a35 |
T |
C |
10: 78,853,554 (GRCm39) |
Y133H |
possibly damaging |
Het |
| Phc3 |
T |
C |
3: 30,984,012 (GRCm39) |
T668A |
possibly damaging |
Het |
| Pheta2 |
T |
A |
15: 82,227,527 (GRCm39) |
D15E |
possibly damaging |
Het |
| Ppp2r2a |
T |
C |
14: 67,260,546 (GRCm39) |
Y244C |
probably damaging |
Het |
| Prkcq |
A |
C |
2: 11,281,851 (GRCm39) |
Y460S |
possibly damaging |
Het |
| Prmt8 |
T |
A |
6: 127,674,770 (GRCm39) |
E286V |
probably benign |
Het |
| Ptprb |
A |
T |
10: 116,158,437 (GRCm39) |
M503L |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,522,180 (GRCm39) |
D590E |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Rps6kc1 |
A |
T |
1: 190,604,033 (GRCm39) |
S196R |
possibly damaging |
Het |
| Ryr3 |
A |
G |
2: 112,656,144 (GRCm39) |
Y1951H |
probably benign |
Het |
| Sbno1 |
A |
T |
5: 124,538,258 (GRCm39) |
|
probably null |
Het |
| Sde2 |
T |
G |
1: 180,678,796 (GRCm39) |
L20R |
possibly damaging |
Het |
| Slco1a5 |
A |
T |
6: 142,208,414 (GRCm39) |
C81* |
probably null |
Het |
| Snx2 |
A |
G |
18: 53,332,857 (GRCm39) |
E177G |
possibly damaging |
Het |
| Spg11 |
A |
T |
2: 121,927,783 (GRCm39) |
V667D |
probably damaging |
Het |
| Tas2r115 |
T |
C |
6: 132,714,271 (GRCm39) |
T227A |
probably benign |
Het |
| Tmed9 |
A |
G |
13: 55,741,108 (GRCm39) |
H41R |
possibly damaging |
Het |
| Vmn1r35 |
T |
G |
6: 66,656,086 (GRCm39) |
S28R |
probably damaging |
Het |
| Vmn2r110 |
A |
C |
17: 20,804,706 (GRCm39) |
|
probably null |
Het |
| Vstm2l |
T |
C |
2: 157,777,337 (GRCm39) |
Y72H |
probably damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Zbtb4 |
A |
T |
11: 69,667,255 (GRCm39) |
R187* |
probably null |
Het |
| Zp2 |
G |
T |
7: 119,732,973 (GRCm39) |
A629E |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation