Incidental Mutation 'R3809:Zfp592'
ID |
275100 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp592
|
Ensembl Gene |
ENSMUSG00000005621 |
Gene Name |
zinc finger protein 592 |
Synonyms |
A730014M16Rik |
MMRRC Submission |
040766-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.926)
|
Stock # |
R3809 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
80643432-80694912 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 80674280 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 415
(A415T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102976
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107353]
|
AlphaFold |
Q8BHZ4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107353
AA Change: A415T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000102976 Gene: ENSMUSG00000005621 AA Change: A415T
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: ENSMUST00000176477
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
3425401B19Rik |
T |
C |
14: 32,385,650 (GRCm39) |
Y105C |
possibly damaging |
Het |
Aoc1l3 |
C |
T |
6: 48,964,928 (GRCm39) |
P312L |
possibly damaging |
Het |
Apol7e |
A |
T |
15: 77,602,262 (GRCm39) |
T287S |
probably benign |
Het |
Arhgap12 |
A |
T |
18: 6,037,057 (GRCm39) |
N561K |
probably benign |
Het |
Armc3 |
G |
T |
2: 19,305,476 (GRCm39) |
A757S |
probably damaging |
Het |
Baz2b |
A |
T |
2: 59,799,240 (GRCm39) |
S295T |
probably benign |
Het |
Brd4 |
T |
A |
17: 32,430,244 (GRCm39) |
K686N |
possibly damaging |
Het |
Btnl6 |
T |
C |
17: 34,727,202 (GRCm39) |
T443A |
probably benign |
Het |
Cacna1g |
T |
C |
11: 94,306,922 (GRCm39) |
T1801A |
probably damaging |
Het |
Celsr2 |
G |
A |
3: 108,310,555 (GRCm39) |
T1509I |
possibly damaging |
Het |
Cers1 |
A |
G |
8: 70,782,660 (GRCm39) |
D10G |
possibly damaging |
Het |
Cntnap3 |
A |
G |
13: 64,929,618 (GRCm39) |
V527A |
probably damaging |
Het |
Cog1 |
G |
T |
11: 113,545,836 (GRCm39) |
M370I |
probably benign |
Het |
Col6a6 |
C |
G |
9: 105,657,891 (GRCm39) |
V774L |
probably damaging |
Het |
Csf1r |
T |
A |
18: 61,245,836 (GRCm39) |
S264R |
probably benign |
Het |
Ctnna2 |
A |
T |
6: 76,931,740 (GRCm39) |
V620D |
probably damaging |
Het |
Eif2b4 |
A |
G |
5: 31,348,512 (GRCm39) |
S88P |
possibly damaging |
Het |
Frmd4b |
G |
A |
6: 97,300,690 (GRCm39) |
L214F |
possibly damaging |
Het |
Fstl1 |
T |
A |
16: 37,647,113 (GRCm39) |
L161Q |
probably damaging |
Het |
Hdac1 |
A |
G |
4: 129,418,113 (GRCm39) |
F94S |
probably damaging |
Het |
Hlf |
T |
C |
11: 90,278,929 (GRCm39) |
D45G |
probably benign |
Het |
Hps3 |
A |
T |
3: 20,072,976 (GRCm39) |
M501K |
probably damaging |
Het |
Ighv14-4 |
A |
G |
12: 114,140,174 (GRCm39) |
Y79H |
probably damaging |
Het |
Ip6k1 |
T |
A |
9: 107,923,086 (GRCm39) |
V406D |
probably damaging |
Het |
Iqcf1 |
T |
C |
9: 106,379,077 (GRCm39) |
S29P |
probably benign |
Het |
Itga11 |
A |
G |
9: 62,678,664 (GRCm39) |
T944A |
probably benign |
Het |
Kcnj12 |
A |
G |
11: 60,961,103 (GRCm39) |
N467S |
probably benign |
Het |
Klhdc3 |
T |
A |
17: 46,988,858 (GRCm39) |
N111Y |
possibly damaging |
Het |
Kmt2c |
T |
C |
5: 25,614,136 (GRCm39) |
R195G |
possibly damaging |
Het |
Lin9 |
A |
G |
1: 180,486,676 (GRCm39) |
I81V |
probably null |
Het |
Lrp2 |
T |
C |
2: 69,331,892 (GRCm39) |
D1621G |
probably damaging |
Het |
Med15 |
C |
T |
16: 17,473,598 (GRCm39) |
|
probably benign |
Het |
Neb |
A |
G |
2: 52,146,801 (GRCm39) |
I2821T |
possibly damaging |
Het |
Or14j6 |
T |
C |
17: 38,214,464 (GRCm39) |
V9A |
probably benign |
Het |
Or2a25 |
A |
T |
6: 42,889,271 (GRCm39) |
K271N |
probably damaging |
Het |
Or4c112 |
G |
T |
2: 88,853,770 (GRCm39) |
H192Q |
probably benign |
Het |
Or56b1 |
A |
T |
7: 104,285,540 (GRCm39) |
I220L |
possibly damaging |
Het |
Or8b3b |
C |
T |
9: 38,584,159 (GRCm39) |
V207I |
probably benign |
Het |
Paxip1 |
A |
G |
5: 27,977,027 (GRCm39) |
|
probably benign |
Het |
Pfas |
T |
C |
11: 68,880,779 (GRCm39) |
|
probably benign |
Het |
Pfdn1 |
C |
T |
18: 36,584,145 (GRCm39) |
G63D |
probably damaging |
Het |
Pgghg |
T |
C |
7: 140,525,208 (GRCm39) |
F405L |
probably damaging |
Het |
Plcd3 |
T |
C |
11: 102,992,209 (GRCm39) |
M50V |
probably null |
Het |
Plekha8 |
C |
A |
6: 54,596,334 (GRCm39) |
S198R |
probably benign |
Het |
Ppp4c |
C |
T |
7: 126,386,499 (GRCm39) |
G166D |
probably damaging |
Het |
Rassf2 |
T |
C |
2: 131,840,180 (GRCm39) |
|
probably null |
Het |
Rnf217 |
T |
A |
10: 31,379,804 (GRCm39) |
I473F |
possibly damaging |
Het |
Sec16a |
G |
C |
2: 26,331,825 (GRCm39) |
N63K |
possibly damaging |
Het |
Sik3 |
A |
G |
9: 46,130,784 (GRCm39) |
D1240G |
probably benign |
Het |
Slamf1 |
A |
G |
1: 171,625,745 (GRCm39) |
D307G |
probably null |
Het |
Slc2a3 |
A |
G |
6: 122,709,388 (GRCm39) |
I337T |
probably benign |
Het |
Tent4a |
A |
G |
13: 69,661,115 (GRCm39) |
V51A |
probably damaging |
Het |
Tinag |
C |
T |
9: 76,859,187 (GRCm39) |
D474N |
probably benign |
Het |
Ublcp1 |
A |
G |
11: 44,349,109 (GRCm39) |
F242L |
probably benign |
Het |
Ucp1 |
C |
A |
8: 84,017,270 (GRCm39) |
A20D |
probably damaging |
Het |
Ugt1a7c |
C |
T |
1: 88,023,104 (GRCm39) |
R88W |
possibly damaging |
Het |
Wipf3 |
A |
G |
6: 54,458,780 (GRCm39) |
D45G |
probably damaging |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCAAGCCATCTGATAGCCC -3'
(R):5'- TCAGGGCAGATCCTTTTGGG -3'
Sequencing Primer
(F):5'- ATCTGATAGCCCTCGGAGCATC -3'
(R):5'- CCTTTTGGGACCCTGGAC -3'
|
Posted On |
2015-04-02 |