Incidental Mutation 'R5174:Zfp592'
| ID |
399001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp592
|
| Ensembl Gene |
ENSMUSG00000005621 |
| Gene Name |
zinc finger protein 592 |
| Synonyms |
A730014M16Rik |
| MMRRC Submission |
042754-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.929)
|
| Stock # |
R5174 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
80643432-80694912 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80688073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1000
(S1000P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107353]
|
| AlphaFold |
Q8BHZ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107353
AA Change: S1000P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102976
Gene: ENSMUSG00000005621
AA Change: S1000P
| 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
|
| Meta Mutation Damage Score |
0.1788 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
99% (69/70) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
T |
C |
10: 69,728,209 (GRCm39) |
S632P |
probably damaging |
Het |
| Arhgef16 |
G |
A |
4: 154,366,504 (GRCm39) |
R451W |
probably damaging |
Het |
| Asxl3 |
A |
T |
18: 22,656,172 (GRCm39) |
D1394V |
probably benign |
Het |
| Atp2a3 |
T |
A |
11: 72,871,041 (GRCm39) |
I545N |
probably damaging |
Het |
| Cadps2 |
T |
A |
6: 23,287,742 (GRCm39) |
Y1181F |
probably damaging |
Het |
| Camkmt |
C |
A |
17: 85,759,665 (GRCm39) |
F268L |
probably benign |
Het |
| Casp14 |
C |
T |
10: 78,551,225 (GRCm39) |
G20D |
possibly damaging |
Het |
| Celf1 |
T |
C |
2: 90,831,353 (GRCm39) |
C61R |
probably damaging |
Het |
| Cenpp |
CAAACCTGAAAA |
CAAA |
13: 49,618,258 (GRCm39) |
|
probably null |
Het |
| Cers3 |
A |
T |
7: 66,434,616 (GRCm39) |
K203M |
probably damaging |
Het |
| Clip4 |
T |
C |
17: 72,117,957 (GRCm39) |
F334S |
probably damaging |
Het |
| Cyp2b13 |
T |
A |
7: 25,788,118 (GRCm39) |
D415E |
possibly damaging |
Het |
| Decr2 |
A |
T |
17: 26,306,443 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
T |
C |
9: 54,352,768 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
G |
A |
1: 46,282,509 (GRCm39) |
A2881T |
possibly damaging |
Het |
| Dnaja3 |
A |
G |
16: 4,502,161 (GRCm39) |
H55R |
probably benign |
Het |
| Dnajc11 |
T |
C |
4: 152,064,441 (GRCm39) |
F531L |
probably damaging |
Het |
| Efcab6 |
A |
G |
15: 83,938,687 (GRCm39) |
F10L |
probably benign |
Het |
| Epm2aip1 |
T |
C |
9: 111,102,455 (GRCm39) |
F476S |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,910,866 (GRCm39) |
N1712S |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,448,893 (GRCm39) |
V1343A |
possibly damaging |
Het |
| Fsip2 |
C |
T |
2: 82,811,085 (GRCm39) |
P2468L |
probably benign |
Het |
| Gm5798 |
A |
G |
14: 41,070,620 (GRCm39) |
H10R |
possibly damaging |
Het |
| Gm7168 |
A |
G |
17: 14,168,717 (GRCm39) |
Y28C |
probably damaging |
Het |
| Gtpbp6 |
G |
A |
5: 110,255,983 (GRCm39) |
R19C |
possibly damaging |
Het |
| Gucy2e |
A |
G |
11: 69,127,392 (GRCm39) |
F27S |
probably benign |
Het |
| Inhca |
C |
T |
9: 103,159,755 (GRCm39) |
|
probably null |
Het |
| Krba1 |
A |
G |
6: 48,389,229 (GRCm39) |
E548G |
probably damaging |
Het |
| Ltbr |
A |
G |
6: 125,286,500 (GRCm39) |
S229P |
probably benign |
Het |
| Mgat5b |
A |
T |
11: 116,868,541 (GRCm39) |
Y488F |
probably benign |
Het |
| Mia3 |
T |
A |
1: 183,112,348 (GRCm39) |
K475* |
probably null |
Het |
| Mrpl53 |
C |
T |
6: 83,086,638 (GRCm39) |
T114M |
possibly damaging |
Het |
| Mrps35 |
T |
C |
6: 146,961,709 (GRCm39) |
Y195H |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,570,556 (GRCm39) |
I539F |
possibly damaging |
Het |
| Nedd1 |
T |
A |
10: 92,547,074 (GRCm39) |
T150S |
possibly damaging |
Het |
| Nox4 |
T |
G |
7: 86,972,974 (GRCm39) |
I327S |
probably benign |
Het |
| Nrk |
C |
G |
X: 137,887,528 (GRCm39) |
A1018G |
probably benign |
Het |
| Or4c102 |
T |
A |
2: 88,422,992 (GRCm39) |
N281K |
probably damaging |
Het |
| Or4d5 |
T |
C |
9: 40,012,043 (GRCm39) |
T248A |
possibly damaging |
Het |
| Or52ae7 |
T |
A |
7: 103,119,610 (GRCm39) |
F121L |
probably benign |
Het |
| Or5w19 |
T |
A |
2: 87,698,755 (GRCm39) |
V140E |
possibly damaging |
Het |
| Pdzd2 |
G |
A |
15: 12,372,600 (GRCm39) |
P2512S |
probably benign |
Het |
| Ptgis |
T |
A |
2: 167,045,390 (GRCm39) |
|
probably null |
Het |
| Rnf170 |
T |
A |
8: 26,619,196 (GRCm39) |
M140K |
probably benign |
Het |
| Scaf4 |
A |
T |
16: 90,044,062 (GRCm39) |
I637K |
unknown |
Het |
| Sdccag8 |
A |
T |
1: 176,672,916 (GRCm39) |
T270S |
probably damaging |
Het |
| Sec24d |
T |
C |
3: 123,158,575 (GRCm39) |
C1022R |
probably damaging |
Het |
| Sec63 |
T |
C |
10: 42,705,077 (GRCm39) |
|
probably benign |
Het |
| Serpinb3d |
C |
G |
1: 107,006,228 (GRCm39) |
E287Q |
possibly damaging |
Het |
| Silc1 |
A |
T |
12: 27,192,027 (GRCm39) |
|
noncoding transcript |
Het |
| Smarcd2 |
A |
G |
11: 106,157,871 (GRCm39) |
|
probably benign |
Het |
| Sox15 |
A |
G |
11: 69,546,545 (GRCm39) |
Y116C |
probably damaging |
Het |
| Spag16 |
T |
C |
1: 70,532,955 (GRCm39) |
S545P |
probably damaging |
Het |
| Ssc5d |
C |
A |
7: 4,930,970 (GRCm39) |
T184N |
possibly damaging |
Het |
| St6galnac2 |
A |
T |
11: 116,572,773 (GRCm39) |
F228I |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 4,991,490 (GRCm39) |
N8408S |
probably damaging |
Het |
| Trank1 |
A |
C |
9: 111,194,627 (GRCm39) |
T884P |
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,839,506 (GRCm39) |
L1540H |
probably damaging |
Het |
| Ugt2b37 |
C |
A |
5: 87,399,739 (GRCm39) |
M256I |
probably benign |
Het |
| Vmn2r69 |
G |
A |
7: 85,064,739 (GRCm39) |
T49I |
possibly damaging |
Het |
| Vmn2r72 |
T |
A |
7: 85,387,048 (GRCm39) |
I839L |
probably benign |
Het |
| Zcrb1 |
A |
G |
15: 93,285,456 (GRCm39) |
|
probably null |
Het |
| Zfp319 |
A |
T |
8: 96,054,797 (GRCm39) |
|
probably null |
Het |
| Zfp938 |
T |
C |
10: 82,061,838 (GRCm39) |
N261D |
possibly damaging |
Het |
| Zfp957 |
A |
G |
14: 79,450,828 (GRCm39) |
S324P |
unknown |
Het |
| Zswim6 |
G |
T |
13: 107,863,216 (GRCm39) |
|
noncoding transcript |
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 |
|
IGL02419:Zfp592
|
APN |
7 |
80,687,993 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCTTCTAACCGCCCTGG -3'
(R):5'- AAGGACTGTTCACACTGCC -3'
Sequencing Primer
(F):5'- TAACCGCCCTGGCTCTCG -3'
(R):5'- TGTTCACACTGCCGGCATG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation