Incidental Mutation 'R7295:Zfp592'
ID |
566674 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp592
|
Ensembl Gene |
ENSMUSG00000005621 |
Gene Name |
zinc finger protein 592 |
Synonyms |
A730014M16Rik |
MMRRC Submission |
045363-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.926)
|
Stock # |
R7295 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
80643432-80694912 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 80674070 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 345
(D345Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102976
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107353]
|
AlphaFold |
Q8BHZ4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107353
AA Change: D345Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102976 Gene: ENSMUSG00000005621 AA Change: D345Y
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
98% (59/60) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
a |
A |
T |
2: 154,887,678 (GRCm39) |
D46V |
probably damaging |
Het |
Acp7 |
A |
T |
7: 28,328,955 (GRCm39) |
F75Y |
possibly damaging |
Het |
Adamts19 |
T |
A |
18: 58,970,955 (GRCm39) |
Y180N |
probably damaging |
Het |
Adck1 |
G |
T |
12: 88,397,815 (GRCm39) |
D150Y |
probably damaging |
Het |
Alb |
T |
A |
5: 90,610,693 (GRCm39) |
|
probably null |
Het |
Baat |
A |
T |
4: 49,490,275 (GRCm39) |
Y270N |
probably damaging |
Het |
Bmp7 |
A |
T |
2: 172,781,690 (GRCm39) |
I58N |
probably damaging |
Het |
Bpifb9a |
C |
T |
2: 154,109,616 (GRCm39) |
T504M |
probably damaging |
Het |
Cbfa2t3 |
T |
G |
8: 123,364,768 (GRCm39) |
D338A |
probably benign |
Het |
Ccnd2 |
A |
T |
6: 127,125,725 (GRCm39) |
C104S |
possibly damaging |
Het |
Clip1 |
G |
T |
5: 123,765,419 (GRCm39) |
Q713K |
probably benign |
Het |
Ddx28 |
G |
A |
8: 106,737,476 (GRCm39) |
S194L |
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,631,183 (GRCm39) |
|
probably null |
Het |
Edil3 |
T |
A |
13: 89,279,902 (GRCm39) |
Y193* |
probably null |
Het |
Eprs1 |
A |
G |
1: 185,150,407 (GRCm39) |
|
probably null |
Het |
Ercc6l2 |
T |
G |
13: 63,967,589 (GRCm39) |
I63R |
probably damaging |
Het |
Fam171a2 |
T |
C |
11: 102,329,064 (GRCm39) |
E565G |
possibly damaging |
Het |
Fbn1 |
T |
A |
2: 125,177,407 (GRCm39) |
D1810V |
probably damaging |
Het |
Foxj2 |
T |
C |
6: 122,817,190 (GRCm39) |
S506P |
probably benign |
Het |
Frmpd1 |
A |
G |
4: 45,285,700 (GRCm39) |
E1507G |
probably damaging |
Het |
Gfm1 |
G |
A |
3: 67,347,514 (GRCm39) |
V258I |
probably benign |
Het |
Gphn |
T |
C |
12: 78,538,876 (GRCm39) |
V174A |
probably benign |
Het |
Gtpbp3 |
C |
A |
8: 71,942,139 (GRCm39) |
S123R |
possibly damaging |
Het |
H2bc8 |
T |
C |
13: 23,755,943 (GRCm39) |
S113P |
probably benign |
Het |
Hbs1l |
T |
C |
10: 21,186,051 (GRCm39) |
V491A |
probably benign |
Het |
Hoxc12 |
A |
G |
15: 102,846,810 (GRCm39) |
N234S |
probably damaging |
Het |
Il22b |
A |
T |
10: 118,130,848 (GRCm39) |
L16* |
probably null |
Het |
Kcnj5 |
T |
C |
9: 32,234,087 (GRCm39) |
D76G |
probably damaging |
Het |
Klhl11 |
A |
G |
11: 100,363,068 (GRCm39) |
Y163H |
probably damaging |
Het |
Lonp1 |
G |
T |
17: 56,929,495 (GRCm39) |
Q181K |
possibly damaging |
Het |
Mgst1 |
A |
T |
6: 138,124,754 (GRCm39) |
I23F |
probably benign |
Het |
Muc21 |
G |
A |
17: 35,929,761 (GRCm39) |
A1475V |
unknown |
Het |
Myocos |
T |
C |
1: 162,484,687 (GRCm39) |
R41G |
unknown |
Het |
Myod1 |
A |
G |
7: 46,027,643 (GRCm39) |
D261G |
probably benign |
Het |
Nop14 |
C |
T |
5: 34,796,376 (GRCm39) |
R781Q |
probably damaging |
Het |
Nsmaf |
A |
G |
4: 6,438,083 (GRCm39) |
V63A |
probably benign |
Het |
Ntsr1 |
A |
T |
2: 180,142,725 (GRCm39) |
H172L |
probably damaging |
Het |
Or4k6 |
T |
C |
14: 50,476,073 (GRCm39) |
K90E |
probably damaging |
Het |
Or8b1c |
A |
T |
9: 38,384,739 (GRCm39) |
E232V |
probably benign |
Het |
Pcdha11 |
T |
C |
18: 37,139,979 (GRCm39) |
V536A |
probably damaging |
Het |
Pcdha6 |
T |
A |
18: 37,101,189 (GRCm39) |
N127K |
probably damaging |
Het |
Prps1l1 |
T |
A |
12: 35,035,679 (GRCm39) |
C265S |
probably benign |
Het |
Prune2 |
A |
G |
19: 17,097,261 (GRCm39) |
S922G |
probably benign |
Het |
Qpctl |
A |
T |
7: 18,883,055 (GRCm39) |
M19K |
probably benign |
Het |
Rad51 |
C |
T |
2: 118,964,599 (GRCm39) |
T230I |
possibly damaging |
Het |
Rad9b |
A |
G |
5: 122,472,341 (GRCm39) |
F246L |
possibly damaging |
Het |
Rarb |
A |
T |
14: 16,508,932 (GRCm38) |
|
probably null |
Het |
Sdcbp2 |
T |
C |
2: 151,429,321 (GRCm39) |
S214P |
possibly damaging |
Het |
Slc22a1 |
T |
A |
17: 12,875,892 (GRCm39) |
M441L |
probably benign |
Het |
Slc35f1 |
G |
A |
10: 52,938,637 (GRCm39) |
V190I |
probably benign |
Het |
Spon1 |
A |
T |
7: 113,629,475 (GRCm39) |
Q373L |
possibly damaging |
Het |
Ssbp2 |
T |
A |
13: 91,842,122 (GRCm39) |
|
probably null |
Het |
Sult1e1 |
T |
A |
5: 87,726,512 (GRCm39) |
R201* |
probably null |
Het |
Traj32 |
T |
A |
14: 54,423,606 (GRCm39) |
L16Q |
|
Het |
Ttc16 |
T |
C |
2: 32,664,437 (GRCm39) |
I67V |
probably null |
Het |
Ttn |
T |
A |
2: 76,556,899 (GRCm39) |
K30035N |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,776,473 (GRCm39) |
Y1607F |
unknown |
Het |
Usp16 |
G |
A |
16: 87,268,977 (GRCm39) |
R290H |
probably benign |
Het |
Utp3 |
G |
C |
5: 88,702,376 (GRCm39) |
|
probably benign |
Het |
Xpnpep3 |
A |
G |
15: 81,298,735 (GRCm39) |
H56R |
probably damaging |
Het |
Zfp931 |
A |
T |
2: 177,709,824 (GRCm39) |
Y187* |
probably null |
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 |
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 |
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'- AGTTATCCTCTTGTGTTGCAGC -3'
(R):5'- TGGAGCCTCAGTGATTGTGC -3'
Sequencing Primer
(F):5'- CCTTGGTGGCCTTACAGG -3'
(R):5'- ACTCAGCAGGGGACTTGCTTG -3'
|
Posted On |
2019-06-26 |