Incidental Mutation 'IGL00580:Zfp599'
| ID |
4927 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp599
|
| Ensembl Gene |
ENSMUSG00000062794 |
| Gene Name |
zinc finger protein 599 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
IGL00580
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
22158726-22171191 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 22160768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 466
(Q466K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086281]
|
| AlphaFold |
E9PWP1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086281
AA Change: Q466K
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000083462
Gene: ENSMUSG00000062794
AA Change: Q466K
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
64 |
5.35e-33 |
SMART |
|
ZnF_C2H2
|
228 |
250 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
256 |
278 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
284 |
306 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
312 |
334 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
340 |
362 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
368 |
390 |
5.06e-2 |
SMART |
|
ZnF_C2H2
|
396 |
418 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
424 |
446 |
7.67e-2 |
SMART |
|
ZnF_C2H2
|
452 |
474 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
480 |
503 |
7.37e-4 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
T |
12: 113,508,845 (GRCm39) |
Y406F |
probably benign |
Het |
| Catsperb |
T |
A |
12: 101,557,788 (GRCm39) |
N786K |
probably benign |
Het |
| Clcnka |
C |
T |
4: 141,118,712 (GRCm39) |
W391* |
probably null |
Het |
| Col12a1 |
A |
T |
9: 79,599,508 (GRCm39) |
S882T |
probably benign |
Het |
| Cyp2j12 |
A |
G |
4: 95,994,826 (GRCm39) |
|
probably benign |
Het |
| Cyp4f17 |
C |
A |
17: 32,743,849 (GRCm39) |
Y342* |
probably null |
Het |
| Fancg |
A |
T |
4: 43,003,910 (GRCm39) |
C506* |
probably null |
Het |
| Grid2 |
A |
T |
6: 64,322,573 (GRCm39) |
L524F |
probably damaging |
Het |
| Haao |
C |
T |
17: 84,142,359 (GRCm39) |
|
probably benign |
Het |
| Il17re |
A |
G |
6: 113,446,560 (GRCm39) |
D256G |
probably damaging |
Het |
| Irf4 |
T |
A |
13: 30,935,767 (GRCm39) |
F107L |
probably damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,355,691 (GRCm39) |
I232F |
probably benign |
Het |
| Kmt2b |
T |
A |
7: 30,285,938 (GRCm39) |
|
probably benign |
Het |
| Maoa |
T |
C |
X: 16,547,085 (GRCm39) |
V380A |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,126,008 (GRCm39) |
T1121A |
probably benign |
Het |
| Pisd |
T |
C |
5: 32,895,756 (GRCm39) |
I441V |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,449,870 (GRCm39) |
T3878A |
probably damaging |
Het |
| Plcb2 |
G |
A |
2: 118,549,370 (GRCm39) |
R331W |
probably damaging |
Het |
| Prrc2c |
G |
A |
1: 162,525,685 (GRCm39) |
P307L |
unknown |
Het |
| Psen1 |
C |
T |
12: 83,777,343 (GRCm39) |
S329F |
probably benign |
Het |
| Ptpn21 |
G |
A |
12: 98,699,860 (GRCm39) |
S18F |
probably damaging |
Het |
| Serpinb9 |
A |
G |
13: 33,190,673 (GRCm39) |
T50A |
probably damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,773,501 (GRCm39) |
S1148T |
probably damaging |
Het |
| Zfp964 |
A |
G |
8: 70,112,043 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Zfp599 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00845:Zfp599
|
APN |
9 |
22,162,814 (GRCm39) |
splice site |
probably benign |
|
|
R0136:Zfp599
|
UTSW |
9 |
22,161,038 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0239:Zfp599
|
UTSW |
9 |
22,161,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Zfp599
|
UTSW |
9 |
22,161,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0421:Zfp599
|
UTSW |
9 |
22,161,843 (GRCm39) |
splice site |
probably benign |
|
|
R1699:Zfp599
|
UTSW |
9 |
22,161,700 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1723:Zfp599
|
UTSW |
9 |
22,169,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1899:Zfp599
|
UTSW |
9 |
22,162,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4231:Zfp599
|
UTSW |
9 |
22,161,041 (GRCm39) |
nonsense |
probably null |
|
|
R4233:Zfp599
|
UTSW |
9 |
22,161,041 (GRCm39) |
nonsense |
probably null |
|
|
R4236:Zfp599
|
UTSW |
9 |
22,161,041 (GRCm39) |
nonsense |
probably null |
|
|
R4931:Zfp599
|
UTSW |
9 |
22,169,419 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5117:Zfp599
|
UTSW |
9 |
22,161,396 (GRCm39) |
nonsense |
probably null |
|
|
R5615:Zfp599
|
UTSW |
9 |
22,165,165 (GRCm39) |
missense |
probably benign |
|
|
R5759:Zfp599
|
UTSW |
9 |
22,160,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5915:Zfp599
|
UTSW |
9 |
22,161,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6184:Zfp599
|
UTSW |
9 |
22,160,947 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6188:Zfp599
|
UTSW |
9 |
22,161,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6657:Zfp599
|
UTSW |
9 |
22,161,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6736:Zfp599
|
UTSW |
9 |
22,161,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6752:Zfp599
|
UTSW |
9 |
22,160,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7071:Zfp599
|
UTSW |
9 |
22,169,392 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7643:Zfp599
|
UTSW |
9 |
22,161,188 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7714:Zfp599
|
UTSW |
9 |
22,161,811 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7951:Zfp599
|
UTSW |
9 |
22,160,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7967:Zfp599
|
UTSW |
9 |
22,160,830 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8014:Zfp599
|
UTSW |
9 |
22,160,777 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8187:Zfp599
|
UTSW |
9 |
22,161,111 (GRCm39) |
nonsense |
probably null |
|
|
R9562:Zfp599
|
UTSW |
9 |
22,160,999 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9684:Zfp599
|
UTSW |
9 |
22,160,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9722:Zfp599
|
UTSW |
9 |
22,160,741 (GRCm39) |
missense |
probably damaging |
0.96 |
|
RF005:Zfp599
|
UTSW |
9 |
22,165,180 (GRCm39) |
missense |
probably benign |
0.03 |
|
RF024:Zfp599
|
UTSW |
9 |
22,165,180 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2012-04-20 |
Incidental Mutation