Incidental Mutation 'R1650:Zfp592'
ID |
174180 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp592
|
Ensembl Gene |
ENSMUSG00000005621 |
Gene Name |
zinc finger protein 592 |
Synonyms |
A730014M16Rik |
MMRRC Submission |
039686-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.926)
|
Stock # |
R1650 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
80643432-80694912 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 80687848 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 925
(S925T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102976
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107353]
|
AlphaFold |
Q8BHZ4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107353
AA Change: S925T
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000102976 Gene: ENSMUSG00000005621 AA Change: S925T
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 |
0.0709 |
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.4%
- 10x: 93.0%
- 20x: 83.4%
|
Validation Efficiency |
99% (86/87) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb2 |
T |
G |
2: 103,532,747 (GRCm39) |
V515G |
probably damaging |
Het |
Ark2c |
A |
C |
18: 77,550,113 (GRCm39) |
|
probably null |
Het |
Arl5a |
A |
T |
2: 52,302,117 (GRCm39) |
I99N |
probably damaging |
Het |
Atp8b1 |
A |
G |
18: 64,704,620 (GRCm39) |
|
probably benign |
Het |
Bag4 |
T |
A |
8: 26,267,452 (GRCm39) |
Q126L |
probably damaging |
Het |
Ccser1 |
A |
G |
6: 61,615,474 (GRCm39) |
T659A |
probably benign |
Het |
Cenpn |
A |
G |
8: 117,661,498 (GRCm39) |
D199G |
probably damaging |
Het |
Cfhr3 |
A |
G |
1: 139,521,564 (GRCm39) |
|
noncoding transcript |
Het |
Clca3a2 |
T |
A |
3: 144,797,973 (GRCm39) |
H164L |
probably damaging |
Het |
Col5a1 |
C |
A |
2: 27,812,171 (GRCm39) |
S84R |
unknown |
Het |
Ctsc |
T |
A |
7: 87,930,634 (GRCm39) |
L71* |
probably null |
Het |
Cyp2c70 |
A |
G |
19: 40,153,921 (GRCm39) |
Y223H |
probably benign |
Het |
Dbt |
A |
G |
3: 116,328,381 (GRCm39) |
|
probably null |
Het |
Dlg2 |
T |
C |
7: 92,080,259 (GRCm39) |
V614A |
probably damaging |
Het |
Dll4 |
T |
C |
2: 119,161,611 (GRCm39) |
S398P |
probably damaging |
Het |
Dyrk4 |
T |
C |
6: 126,876,792 (GRCm39) |
K62E |
probably benign |
Het |
Fgf22 |
A |
T |
10: 79,591,023 (GRCm39) |
Y24F |
probably damaging |
Het |
Ggt5 |
A |
G |
10: 75,440,595 (GRCm39) |
R239G |
probably benign |
Het |
Gm11360 |
C |
T |
13: 28,140,379 (GRCm39) |
A81V |
unknown |
Het |
Htr5b |
T |
A |
1: 121,455,891 (GRCm39) |
T10S |
probably benign |
Het |
Igsf10 |
T |
C |
3: 59,233,583 (GRCm39) |
R1717G |
probably damaging |
Het |
Itsn2 |
T |
A |
12: 4,687,767 (GRCm39) |
V556D |
probably damaging |
Het |
Kdm3b |
T |
C |
18: 34,942,168 (GRCm39) |
V553A |
possibly damaging |
Het |
Krt84 |
G |
A |
15: 101,434,398 (GRCm39) |
S523F |
possibly damaging |
Het |
Lca5l |
T |
C |
16: 95,980,140 (GRCm39) |
|
probably null |
Het |
Lmbrd1 |
T |
C |
1: 24,750,639 (GRCm39) |
W171R |
probably damaging |
Het |
Lrp6 |
T |
C |
6: 134,445,732 (GRCm39) |
Y1027C |
probably benign |
Het |
Macf1 |
A |
T |
4: 123,350,393 (GRCm39) |
Y1702* |
probably null |
Het |
Mon2 |
T |
C |
10: 122,831,682 (GRCm39) |
I1675V |
probably benign |
Het |
Mtcl1 |
T |
A |
17: 66,692,871 (GRCm39) |
K486M |
probably damaging |
Het |
Nek1 |
A |
T |
8: 61,489,110 (GRCm39) |
H338L |
probably benign |
Het |
Ola1 |
A |
T |
2: 72,987,238 (GRCm39) |
D131E |
possibly damaging |
Het |
Olr1 |
T |
A |
6: 129,484,052 (GRCm39) |
M7L |
probably benign |
Het |
Or1f12 |
T |
C |
13: 21,721,249 (GRCm39) |
N294D |
probably damaging |
Het |
Or4k36 |
C |
T |
2: 111,146,640 (GRCm39) |
A272V |
probably benign |
Het |
Or5t18 |
A |
T |
2: 86,637,091 (GRCm39) |
M84K |
possibly damaging |
Het |
Or5w10 |
C |
A |
2: 87,375,772 (GRCm39) |
V39L |
probably benign |
Het |
Or7g27 |
T |
G |
9: 19,249,943 (GRCm39) |
F62L |
possibly damaging |
Het |
Or9m2 |
C |
T |
2: 87,821,145 (GRCm39) |
A230V |
probably benign |
Het |
Pan2 |
G |
A |
10: 128,153,768 (GRCm39) |
E980K |
probably damaging |
Het |
Pgm1 |
C |
A |
4: 99,819,276 (GRCm39) |
Q149K |
probably benign |
Het |
Pgm1 |
A |
G |
4: 99,819,267 (GRCm39) |
K146E |
possibly damaging |
Het |
Phlpp2 |
T |
C |
8: 110,660,587 (GRCm39) |
|
probably benign |
Het |
Plekhs1 |
G |
T |
19: 56,459,474 (GRCm39) |
G75C |
probably damaging |
Het |
Plin4 |
G |
A |
17: 56,411,931 (GRCm39) |
T700I |
probably damaging |
Het |
Podxl2 |
G |
A |
6: 88,826,901 (GRCm39) |
P71L |
probably benign |
Het |
Pot1a |
A |
T |
6: 25,745,964 (GRCm39) |
V579D |
probably damaging |
Het |
Poteg |
A |
G |
8: 27,953,813 (GRCm39) |
D318G |
probably benign |
Het |
Ppp4r3a |
A |
T |
12: 101,010,878 (GRCm39) |
D554E |
probably damaging |
Het |
Proser3 |
G |
A |
7: 30,239,751 (GRCm39) |
A451V |
probably damaging |
Het |
Shld2 |
T |
A |
14: 33,981,574 (GRCm39) |
|
probably benign |
Het |
Strc |
T |
C |
2: 121,211,366 (GRCm39) |
|
probably benign |
Het |
Syce1 |
C |
A |
7: 140,358,300 (GRCm39) |
C216F |
possibly damaging |
Het |
Syne2 |
A |
T |
12: 75,951,033 (GRCm39) |
K395* |
probably null |
Het |
Trim28 |
G |
A |
7: 12,764,776 (GRCm39) |
G831D |
possibly damaging |
Het |
Tyw1 |
A |
G |
5: 130,317,752 (GRCm39) |
I434V |
possibly damaging |
Het |
Ubox5 |
G |
A |
2: 130,442,345 (GRCm39) |
A114V |
probably benign |
Het |
Ubqln3 |
C |
T |
7: 103,790,228 (GRCm39) |
V621I |
possibly damaging |
Het |
Unc79 |
A |
G |
12: 103,079,052 (GRCm39) |
D1543G |
possibly damaging |
Het |
Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
Wrnip1 |
C |
A |
13: 32,989,362 (GRCm39) |
H283Q |
probably benign |
Het |
Zan |
A |
T |
5: 137,392,863 (GRCm39) |
|
probably benign |
Het |
Zcchc10 |
A |
T |
11: 53,218,229 (GRCm39) |
K1* |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTTCAAGTGCCCTGAGTGCCC -3'
(R):5'- TAGCTCTCTCGATCAGGAACCCAC -3'
Sequencing Primer
(F):5'- GAGTGCCCACTGCTGTTTC -3'
(R):5'- GATCAGGAACCCACTCTTGGC -3'
|
Posted On |
2014-04-24 |