Incidental Mutation 'IGL03061:Zfp598'
| ID |
409430 |
| 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 # |
IGL03061
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
24888661-24900990 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24898566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 455
(V455A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047179]
|
| AlphaFold |
Q80YR4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047179
AA Change: V455A
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000038367
Gene: ENSMUSG00000041130
AA Change: V455A
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
T |
A |
8: 46,961,374 (GRCm39) |
N106K |
probably damaging |
Het |
| Ak8 |
T |
C |
2: 28,632,767 (GRCm39) |
|
probably benign |
Het |
| BC016579 |
C |
T |
16: 45,449,849 (GRCm39) |
G190S |
probably damaging |
Het |
| C4bp |
A |
G |
1: 130,564,454 (GRCm39) |
V410A |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 28,780,388 (GRCm39) |
T658A |
probably damaging |
Het |
| Cadps2 |
T |
C |
6: 23,287,659 (GRCm39) |
|
probably null |
Het |
| Car10 |
G |
T |
11: 93,381,351 (GRCm39) |
V105F |
probably damaging |
Het |
| Car15 |
C |
T |
16: 17,653,249 (GRCm39) |
C306Y |
possibly damaging |
Het |
| Casr |
C |
T |
16: 36,316,250 (GRCm39) |
A530T |
probably benign |
Het |
| Col5a3 |
A |
G |
9: 20,708,868 (GRCm39) |
|
probably null |
Het |
| Creld1 |
A |
G |
6: 113,465,058 (GRCm39) |
E95G |
probably damaging |
Het |
| Dcstamp |
T |
A |
15: 39,623,793 (GRCm39) |
D366E |
possibly damaging |
Het |
| Dnah11 |
T |
C |
12: 117,866,856 (GRCm39) |
Y4095C |
probably damaging |
Het |
| Eps8l2 |
A |
G |
7: 140,937,148 (GRCm39) |
|
probably benign |
Het |
| Gsn |
T |
C |
2: 35,172,471 (GRCm39) |
|
probably benign |
Het |
| Ifi27l2a |
T |
C |
12: 103,401,803 (GRCm39) |
V30A |
possibly damaging |
Het |
| Ifit1bl2 |
C |
T |
19: 34,597,124 (GRCm39) |
R164Q |
probably benign |
Het |
| Impg2 |
T |
C |
16: 56,088,779 (GRCm39) |
S1102P |
probably damaging |
Het |
| Kif24 |
G |
T |
4: 41,394,323 (GRCm39) |
P984Q |
possibly damaging |
Het |
| Krtap29-1 |
T |
A |
11: 99,869,455 (GRCm39) |
Q142L |
possibly damaging |
Het |
| Lpar6 |
C |
T |
14: 73,476,510 (GRCm39) |
T157I |
probably benign |
Het |
| Lrrc32 |
A |
T |
7: 98,148,629 (GRCm39) |
T470S |
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mroh9 |
A |
T |
1: 162,854,071 (GRCm39) |
H776Q |
probably damaging |
Het |
| Myh7 |
T |
C |
14: 55,228,661 (GRCm39) |
|
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,462,031 (GRCm39) |
N309S |
possibly damaging |
Het |
| Myo5b |
A |
T |
18: 74,767,630 (GRCm39) |
T313S |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,713,615 (GRCm39) |
|
probably benign |
Het |
| Npas4 |
C |
T |
19: 5,036,365 (GRCm39) |
V600M |
probably damaging |
Het |
| Nrxn3 |
T |
A |
12: 89,478,698 (GRCm39) |
Y557* |
probably null |
Het |
| Or2aj4 |
T |
C |
16: 19,385,463 (GRCm39) |
T57A |
possibly damaging |
Het |
| Or52k2 |
A |
G |
7: 102,253,946 (GRCm39) |
I128M |
probably damaging |
Het |
| Or8g53 |
T |
A |
9: 39,683,458 (GRCm39) |
T213S |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,152,843 (GRCm39) |
I383V |
probably damaging |
Het |
| Pdzrn3 |
C |
A |
6: 101,128,816 (GRCm39) |
D617Y |
probably damaging |
Het |
| Prodh2 |
A |
T |
7: 30,212,258 (GRCm39) |
K408* |
probably null |
Het |
| Ptprs |
T |
C |
17: 56,725,830 (GRCm39) |
I1052V |
probably damaging |
Het |
| Rpl14 |
T |
C |
9: 120,401,193 (GRCm39) |
V12A |
probably damaging |
Het |
| Sf3a1 |
C |
T |
11: 4,125,493 (GRCm39) |
R428C |
probably damaging |
Het |
| Sgsm2 |
G |
T |
11: 74,741,962 (GRCm39) |
N1009K |
probably damaging |
Het |
| Slc28a2 |
A |
T |
2: 122,284,980 (GRCm39) |
I323F |
probably damaging |
Het |
| Snx19 |
T |
A |
9: 30,344,928 (GRCm39) |
F676I |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tg |
A |
C |
15: 66,543,254 (GRCm39) |
D56A |
probably damaging |
Het |
| Tln1 |
G |
T |
4: 43,545,694 (GRCm39) |
A928E |
probably damaging |
Het |
| Tmem94 |
T |
C |
11: 115,683,247 (GRCm39) |
S677P |
possibly damaging |
Het |
| Ttc41 |
C |
A |
10: 86,572,721 (GRCm39) |
H698N |
possibly damaging |
Het |
| Vcan |
T |
C |
13: 89,851,394 (GRCm39) |
T1189A |
probably benign |
Het |
| Vmn1r215 |
G |
T |
13: 23,260,088 (GRCm39) |
V43F |
probably damaging |
Het |
| Vmn2r28 |
A |
T |
7: 5,487,015 (GRCm39) |
N549K |
probably 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 |
|
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 |
2016-08-02 |
Incidental Mutation