Incidental Mutation 'IGL02500:Zfp592'
| ID |
296008 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp592
|
| Ensembl Gene |
ENSMUSG00000005621 |
| Gene Name |
zinc finger protein 592 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.937)
|
| Stock # |
IGL02500
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
80993681-81045164 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81041726 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 1218
(C1218S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107353]
|
| AlphaFold |
Q8BHZ4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107353
AA Change: C1218S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102976
Gene: ENSMUSG00000005621
AA Change: C1218S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
170 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
369 |
N/A |
INTRINSIC |
|
low complexity region
|
484 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
525 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
587 |
612 |
8.98e0 |
SMART |
|
ZnF_C2H2
|
615 |
639 |
2.61e1 |
SMART |
|
low complexity region
|
664 |
686 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
711 |
731 |
1.24e2 |
SMART |
|
ZnF_C2H2
|
740 |
762 |
2.82e0 |
SMART |
|
ZnF_C2H2
|
768 |
792 |
4.99e1 |
SMART |
|
ZnF_C2H2
|
799 |
822 |
1.73e0 |
SMART |
|
ZnF_C2H2
|
827 |
850 |
7.89e0 |
SMART |
|
ZnF_C2H2
|
892 |
915 |
3.89e-3 |
SMART |
|
low complexity region
|
924 |
935 |
N/A |
INTRINSIC |
|
low complexity region
|
965 |
979 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
983 |
1006 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
1013 |
1036 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
1043 |
1069 |
7.68e0 |
SMART |
|
ZnF_C2H2
|
1124 |
1146 |
1.51e0 |
SMART |
|
ZnF_C2H2
|
1153 |
1176 |
1.23e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125137
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149508
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is thought to play a role in a complex developmental pathway and the regulation of genes involved in cerebellar development. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia. [provided by RefSeq, Jan 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
T |
14: 118,618,926 (GRCm38) |
I409N |
possibly damaging |
Het |
| Aoc3 |
T |
A |
11: 101,337,389 (GRCm38) |
L674* |
probably null |
Het |
| Arhgef10 |
G |
A |
8: 14,961,238 (GRCm38) |
E265K |
probably damaging |
Het |
| Cd53 |
A |
G |
3: 106,768,826 (GRCm38) |
I75T |
probably damaging |
Het |
| Col26a1 |
A |
T |
5: 136,754,339 (GRCm38) |
L235* |
probably null |
Het |
| Crem |
G |
T |
18: 3,273,477 (GRCm38) |
Q60K |
probably damaging |
Het |
| Cyp2j8 |
T |
C |
4: 96,470,650 (GRCm38) |
D344G |
probably damaging |
Het |
| Cyr61 |
T |
C |
3: 145,648,700 (GRCm38) |
K152R |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,755,806 (GRCm38) |
T2510A |
probably benign |
Het |
| Dnajc4 |
T |
C |
19: 6,988,088 (GRCm38) |
Q215R |
possibly damaging |
Het |
| Espl1 |
A |
G |
15: 102,315,800 (GRCm38) |
H1262R |
probably benign |
Het |
| Exoc2 |
G |
T |
13: 30,911,196 (GRCm38) |
T239K |
probably damaging |
Het |
| Fzd6 |
A |
T |
15: 39,031,386 (GRCm38) |
S316C |
probably damaging |
Het |
| Htra1 |
A |
G |
7: 130,984,974 (GRCm38) |
K429R |
probably benign |
Het |
| Il1rapl2 |
C |
T |
X: 138,846,503 (GRCm38) |
T647I |
possibly damaging |
Het |
| Kcnn3 |
T |
A |
3: 89,661,112 (GRCm38) |
|
probably benign |
Het |
| Kiz |
G |
A |
2: 146,863,813 (GRCm38) |
V98I |
probably benign |
Het |
| Klk1b24 |
A |
T |
7: 44,188,324 (GRCm38) |
|
probably benign |
Het |
| Lrrc30 |
T |
A |
17: 67,631,862 (GRCm38) |
N241I |
probably damaging |
Het |
| Map2k4 |
A |
G |
11: 65,696,310 (GRCm38) |
V288A |
probably damaging |
Het |
| Mefv |
T |
C |
16: 3,713,577 (GRCm38) |
H459R |
probably damaging |
Het |
| Mettl21a |
G |
T |
1: 64,608,054 (GRCm38) |
Q115K |
probably benign |
Het |
| Msra |
A |
G |
14: 64,285,188 (GRCm38) |
|
probably benign |
Het |
| Myh8 |
G |
A |
11: 67,305,710 (GRCm38) |
R1752H |
probably benign |
Het |
| Nrp1 |
T |
C |
8: 128,425,799 (GRCm38) |
F163S |
possibly damaging |
Het |
| Ntng1 |
T |
A |
3: 110,135,330 (GRCm38) |
Y60F |
probably damaging |
Het |
| Pax6 |
G |
T |
2: 105,692,770 (GRCm38) |
R317L |
probably benign |
Het |
| Pcdh17 |
A |
G |
14: 84,533,469 (GRCm38) |
E1129G |
probably benign |
Het |
| Phlpp2 |
C |
T |
8: 109,913,618 (GRCm38) |
H472Y |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,317,321 (GRCm38) |
|
probably null |
Het |
| Prkce |
A |
G |
17: 86,168,914 (GRCm38) |
N108D |
probably benign |
Het |
| Prkdc |
T |
G |
16: 15,714,282 (GRCm38) |
|
probably null |
Het |
| Ptprm |
T |
C |
17: 66,920,048 (GRCm38) |
Y702C |
probably damaging |
Het |
| Rbbp8nl |
T |
C |
2: 180,279,329 (GRCm38) |
T421A |
possibly damaging |
Het |
| Retnlg |
A |
T |
16: 48,872,960 (GRCm38) |
L33F |
probably benign |
Het |
| Slc16a7 |
T |
A |
10: 125,230,933 (GRCm38) |
Y279F |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,388,713 (GRCm38) |
Y964C |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,325,104 (GRCm38) |
P658L |
unknown |
Het |
| Sspo |
C |
A |
6: 48,478,379 (GRCm38) |
C3047* |
probably null |
Het |
| Tmprss11b |
C |
T |
5: 86,667,323 (GRCm38) |
|
probably null |
Het |
| Txnrd1 |
T |
G |
10: 82,879,217 (GRCm38) |
W98G |
probably damaging |
Het |
| Ulk1 |
A |
T |
5: 110,809,134 (GRCm38) |
I66N |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,822,696 (GRCm38) |
Y3557C |
probably damaging |
Het |
| Vmn2r57 |
T |
A |
7: 41,428,226 (GRCm38) |
H172L |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,914,617 (GRCm38) |
G997R |
probably damaging |
Het |
|
| Other mutations in Zfp592 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01331:Zfp592
|
APN |
7 |
81,041,548 (GRCm38) |
nonsense |
probably null |
|
|
IGL01984:Zfp592
|
APN |
7 |
81,038,644 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02079:Zfp592
|
APN |
7 |
81,039,230 (GRCm38) |
missense |
probably benign |
0.20 |
|
IGL02096:Zfp592
|
APN |
7 |
81,025,048 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02125:Zfp592
|
APN |
7 |
81,038,184 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02374:Zfp592
|
APN |
7 |
81,024,983 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02419:Zfp592
|
APN |
7 |
81,038,245 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02466:Zfp592
|
APN |
7 |
81,023,998 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02485:Zfp592
|
APN |
7 |
81,037,970 (GRCm38) |
splice site |
probably benign |
|
|
IGL02876:Zfp592
|
APN |
7 |
81,038,127 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02940:Zfp592
|
APN |
7 |
81,024,827 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0326:Zfp592
|
UTSW |
7 |
81,024,889 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R0634:Zfp592
|
UTSW |
7 |
81,038,071 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0684:Zfp592
|
UTSW |
7 |
81,037,875 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0750:Zfp592
|
UTSW |
7 |
81,024,745 (GRCm38) |
missense |
probably benign |
|
|
R1346:Zfp592
|
UTSW |
7 |
81,038,064 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R1457:Zfp592
|
UTSW |
7 |
81,024,479 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1650:Zfp592
|
UTSW |
7 |
81,038,100 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1804:Zfp592
|
UTSW |
7 |
81,023,695 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1918:Zfp592
|
UTSW |
7 |
81,037,420 (GRCm38) |
nonsense |
probably null |
|
|
R2114:Zfp592
|
UTSW |
7 |
81,024,796 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2144:Zfp592
|
UTSW |
7 |
81,038,202 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2164:Zfp592
|
UTSW |
7 |
81,041,438 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R2246:Zfp592
|
UTSW |
7 |
81,041,613 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R3701:Zfp592
|
UTSW |
7 |
81,037,411 (GRCm38) |
nonsense |
probably null |
|
|
R3809:Zfp592
|
UTSW |
7 |
81,024,532 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4574:Zfp592
|
UTSW |
7 |
81,023,786 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4866:Zfp592
|
UTSW |
7 |
81,041,859 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5023:Zfp592
|
UTSW |
7 |
81,024,347 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5121:Zfp592
|
UTSW |
7 |
81,023,561 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5174:Zfp592
|
UTSW |
7 |
81,038,325 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5794:Zfp592
|
UTSW |
7 |
81,025,033 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5946:Zfp592
|
UTSW |
7 |
81,037,897 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6312:Zfp592
|
UTSW |
7 |
81,023,436 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6657:Zfp592
|
UTSW |
7 |
81,025,486 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R6814:Zfp592
|
UTSW |
7 |
81,023,828 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6872:Zfp592
|
UTSW |
7 |
81,023,828 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7056:Zfp592
|
UTSW |
7 |
81,023,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7295:Zfp592
|
UTSW |
7 |
81,024,322 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7351:Zfp592
|
UTSW |
7 |
81,041,691 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7475:Zfp592
|
UTSW |
7 |
81,023,452 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7509:Zfp592
|
UTSW |
7 |
81,038,340 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7552:Zfp592
|
UTSW |
7 |
81,023,642 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7737:Zfp592
|
UTSW |
7 |
81,025,193 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7752:Zfp592
|
UTSW |
7 |
81,024,721 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7901:Zfp592
|
UTSW |
7 |
81,024,721 (GRCm38) |
missense |
probably benign |
0.13 |
|
R8100:Zfp592
|
UTSW |
7 |
81,024,192 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8440:Zfp592
|
UTSW |
7 |
81,041,523 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R8710:Zfp592
|
UTSW |
7 |
81,023,573 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8766:Zfp592
|
UTSW |
7 |
81,024,605 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9083:Zfp592
|
UTSW |
7 |
81,024,896 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9141:Zfp592
|
UTSW |
7 |
81,024,457 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9194:Zfp592
|
UTSW |
7 |
81,024,601 (GRCm38) |
missense |
probably benign |
|
|
R9197:Zfp592
|
UTSW |
7 |
81,024,319 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R9246:Zfp592
|
UTSW |
7 |
81,041,781 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9321:Zfp592
|
UTSW |
7 |
81,041,478 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R9426:Zfp592
|
UTSW |
7 |
81,024,457 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9785:Zfp592
|
UTSW |
7 |
81,023,497 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0022:Zfp592
|
UTSW |
7 |
81,038,187 (GRCm38) |
nonsense |
probably null |
|
|
X0028:Zfp592
|
UTSW |
7 |
81,024,014 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation