Incidental Mutation 'IGL02419:Zfp592'
| ID |
292597 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp592
|
| Ensembl Gene |
ENSMUSG00000005621 |
| Gene Name |
zinc finger protein 592 |
| Synonyms |
A730014M16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.926)
|
| Stock # |
IGL02419
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
80643432-80694912 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80687993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 973
(E973G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107353]
|
| AlphaFold |
Q8BHZ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107353
AA Change: E973G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102976
Gene: ENSMUSG00000005621
AA Change: E973G
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402J07Rik |
T |
C |
8: 88,312,727 (GRCm39) |
F171L |
possibly damaging |
Het |
| Abca2 |
A |
G |
2: 25,336,849 (GRCm39) |
N2291D |
probably benign |
Het |
| Adamts9 |
A |
G |
6: 92,773,978 (GRCm39) |
V1145A |
probably benign |
Het |
| Adcy2 |
A |
G |
13: 69,130,482 (GRCm39) |
V135A |
probably benign |
Het |
| Akr1c14 |
A |
T |
13: 4,130,617 (GRCm39) |
|
probably null |
Het |
| Aptx |
G |
T |
4: 40,691,032 (GRCm39) |
A229E |
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,892,872 (GRCm39) |
S1584P |
probably benign |
Het |
| Catsper3 |
A |
T |
13: 55,955,881 (GRCm39) |
T329S |
possibly damaging |
Het |
| Cntrl |
A |
G |
2: 35,024,055 (GRCm39) |
D27G |
probably damaging |
Het |
| Cobll1 |
A |
T |
2: 64,981,392 (GRCm39) |
I98K |
probably damaging |
Het |
| Ctdp1 |
T |
C |
18: 80,463,799 (GRCm39) |
K79R |
probably damaging |
Het |
| Cwf19l2 |
T |
C |
9: 3,418,777 (GRCm39) |
|
probably null |
Het |
| Cyp11b2 |
A |
T |
15: 74,722,904 (GRCm39) |
F498Y |
probably damaging |
Het |
| Dnpep |
A |
G |
1: 75,292,332 (GRCm39) |
I162T |
probably damaging |
Het |
| Efcab9 |
T |
C |
11: 32,472,950 (GRCm39) |
I166V |
probably benign |
Het |
| Ep400 |
A |
T |
5: 110,845,242 (GRCm39) |
|
probably null |
Het |
| Gata6 |
G |
A |
18: 11,054,220 (GRCm39) |
G50R |
probably damaging |
Het |
| Gm9631 |
G |
A |
11: 121,834,478 (GRCm39) |
|
|
Het |
| Grifin |
T |
C |
5: 140,550,455 (GRCm39) |
T20A |
probably benign |
Het |
| Hnf4a |
A |
T |
2: 163,408,202 (GRCm39) |
I352F |
probably damaging |
Het |
| Ifi204 |
T |
C |
1: 173,576,946 (GRCm39) |
T552A |
possibly damaging |
Het |
| Ifi205 |
C |
T |
1: 173,845,180 (GRCm39) |
A201T |
probably damaging |
Het |
| Kcnk6 |
A |
G |
7: 28,924,627 (GRCm39) |
V259A |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,079,005 (GRCm39) |
N451S |
probably benign |
Het |
| Klhl24 |
T |
A |
16: 19,926,118 (GRCm39) |
Y215* |
probably null |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Mical1 |
A |
G |
10: 41,358,273 (GRCm39) |
K429E |
possibly damaging |
Het |
| Misp |
A |
G |
10: 79,663,705 (GRCm39) |
|
probably benign |
Het |
| Mon2 |
T |
C |
10: 122,852,352 (GRCm39) |
N1007S |
probably benign |
Het |
| Or10v1 |
A |
T |
19: 11,874,186 (GRCm39) |
Y267F |
probably benign |
Het |
| Or14a260 |
C |
A |
7: 85,984,870 (GRCm39) |
V245F |
probably damaging |
Het |
| Or51v8 |
A |
T |
7: 103,319,682 (GRCm39) |
C185* |
probably null |
Het |
| Or8k41 |
T |
A |
2: 86,313,259 (GRCm39) |
I276F |
probably damaging |
Het |
| Pex6 |
C |
A |
17: 47,035,361 (GRCm39) |
T840N |
possibly damaging |
Het |
| Prox1 |
C |
T |
1: 189,893,327 (GRCm39) |
A373T |
probably benign |
Het |
| Rapgef3 |
G |
T |
15: 97,648,171 (GRCm39) |
N679K |
probably benign |
Het |
| Serpina3n |
T |
C |
12: 104,379,777 (GRCm39) |
V390A |
possibly damaging |
Het |
| Sirpb1a |
A |
G |
3: 15,491,398 (GRCm39) |
F23S |
probably benign |
Het |
| Slc44a3 |
T |
C |
3: 121,283,906 (GRCm39) |
T449A |
probably benign |
Het |
| Smad6 |
G |
A |
9: 63,860,800 (GRCm39) |
|
probably benign |
Het |
| Sos2 |
C |
T |
12: 69,663,764 (GRCm39) |
M573I |
probably benign |
Het |
| St8sia1 |
A |
T |
6: 142,774,661 (GRCm39) |
I306N |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,902,125 (GRCm39) |
S1674P |
possibly damaging |
Het |
| Trim47 |
G |
A |
11: 115,997,027 (GRCm39) |
R576W |
probably damaging |
Het |
| Wdr86 |
A |
T |
5: 24,927,702 (GRCm39) |
I79N |
probably damaging |
Het |
| Wwp2 |
T |
A |
8: 108,276,447 (GRCm39) |
V473D |
probably damaging |
Het |
| Zc3h12a |
T |
C |
4: 125,013,581 (GRCm39) |
T428A |
probably benign |
Het |
|
| Other mutations in Zfp592 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01331:Zfp592
|
APN |
7 |
80,691,296 (GRCm39) |
nonsense |
probably null |
|
|
IGL01984:Zfp592
|
APN |
7 |
80,688,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02079:Zfp592
|
APN |
7 |
80,688,978 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02096:Zfp592
|
APN |
7 |
80,674,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02125:Zfp592
|
APN |
7 |
80,687,932 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02374:Zfp592
|
APN |
7 |
80,674,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02466:Zfp592
|
APN |
7 |
80,673,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02485:Zfp592
|
APN |
7 |
80,687,718 (GRCm39) |
splice site |
probably benign |
|
|
IGL02500:Zfp592
|
APN |
7 |
80,691,474 (GRCm39) |
missense |
probably benign |
|
|
IGL02876:Zfp592
|
APN |
7 |
80,687,875 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02940:Zfp592
|
APN |
7 |
80,674,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0326:Zfp592
|
UTSW |
7 |
80,674,637 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0634:Zfp592
|
UTSW |
7 |
80,687,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0684:Zfp592
|
UTSW |
7 |
80,687,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0750:Zfp592
|
UTSW |
7 |
80,674,493 (GRCm39) |
missense |
probably benign |
|
|
R1346:Zfp592
|
UTSW |
7 |
80,687,812 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1457:Zfp592
|
UTSW |
7 |
80,674,227 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1650:Zfp592
|
UTSW |
7 |
80,687,848 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1804:Zfp592
|
UTSW |
7 |
80,673,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1918:Zfp592
|
UTSW |
7 |
80,687,168 (GRCm39) |
nonsense |
probably null |
|
|
R2114:Zfp592
|
UTSW |
7 |
80,674,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2144:Zfp592
|
UTSW |
7 |
80,687,950 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2164:Zfp592
|
UTSW |
7 |
80,691,186 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2246:Zfp592
|
UTSW |
7 |
80,691,361 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3701:Zfp592
|
UTSW |
7 |
80,687,159 (GRCm39) |
nonsense |
probably null |
|
|
R3809:Zfp592
|
UTSW |
7 |
80,674,280 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4574:Zfp592
|
UTSW |
7 |
80,673,534 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4866:Zfp592
|
UTSW |
7 |
80,691,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5023:Zfp592
|
UTSW |
7 |
80,674,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5121:Zfp592
|
UTSW |
7 |
80,673,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5174:Zfp592
|
UTSW |
7 |
80,688,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5794:Zfp592
|
UTSW |
7 |
80,674,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5946:Zfp592
|
UTSW |
7 |
80,687,645 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6312:Zfp592
|
UTSW |
7 |
80,673,184 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6657:Zfp592
|
UTSW |
7 |
80,675,234 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6814:Zfp592
|
UTSW |
7 |
80,673,576 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6872:Zfp592
|
UTSW |
7 |
80,673,576 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7056:Zfp592
|
UTSW |
7 |
80,673,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7295:Zfp592
|
UTSW |
7 |
80,674,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7351:Zfp592
|
UTSW |
7 |
80,691,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7475:Zfp592
|
UTSW |
7 |
80,673,200 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7509:Zfp592
|
UTSW |
7 |
80,688,088 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7552:Zfp592
|
UTSW |
7 |
80,673,390 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7737:Zfp592
|
UTSW |
7 |
80,674,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7752:Zfp592
|
UTSW |
7 |
80,674,469 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7901:Zfp592
|
UTSW |
7 |
80,674,469 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8100:Zfp592
|
UTSW |
7 |
80,673,940 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8440:Zfp592
|
UTSW |
7 |
80,691,271 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8710:Zfp592
|
UTSW |
7 |
80,673,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8766:Zfp592
|
UTSW |
7 |
80,674,353 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9083:Zfp592
|
UTSW |
7 |
80,674,644 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9141:Zfp592
|
UTSW |
7 |
80,674,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9194:Zfp592
|
UTSW |
7 |
80,674,349 (GRCm39) |
missense |
probably benign |
|
|
R9197:Zfp592
|
UTSW |
7 |
80,674,067 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9246:Zfp592
|
UTSW |
7 |
80,691,529 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9321:Zfp592
|
UTSW |
7 |
80,691,226 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9426:Zfp592
|
UTSW |
7 |
80,674,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9785:Zfp592
|
UTSW |
7 |
80,673,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Zfp592
|
UTSW |
7 |
80,687,935 (GRCm39) |
nonsense |
probably null |
|
|
X0028:Zfp592
|
UTSW |
7 |
80,673,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation