Incidental Mutation 'R0684:Zfp592'
ID |
218628 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp592
|
Ensembl Gene |
ENSMUSG00000005621 |
Gene Name |
zinc finger protein 592 |
Synonyms |
A730014M16Rik |
MMRRC Submission |
038869-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.926)
|
Stock # |
R0684 (G1)
|
Quality Score |
65 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
80643432-80694912 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 80687623 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 883
(N883D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102976
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107353]
|
AlphaFold |
Q8BHZ4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107353
AA Change: N883D
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000102976 Gene: ENSMUSG00000005621 AA Change: N883D
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 |
0.0661 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.1%
- 20x: 88.8%
|
Validation Efficiency |
100% (69/69) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam4 |
A |
T |
12: 81,466,428 (GRCm39) |
L731H |
probably damaging |
Het |
Adora2b |
C |
T |
11: 62,139,995 (GRCm39) |
A23V |
probably benign |
Het |
Ankrd17 |
T |
C |
5: 90,411,857 (GRCm39) |
I1336V |
probably damaging |
Het |
Asxl1 |
G |
A |
2: 153,239,442 (GRCm39) |
R410H |
probably damaging |
Het |
Atp8a2 |
T |
C |
14: 60,260,593 (GRCm39) |
E419G |
probably benign |
Het |
Atxn1l |
A |
T |
8: 110,459,016 (GRCm39) |
N415K |
probably damaging |
Het |
Bcl2l12 |
T |
A |
7: 44,646,025 (GRCm39) |
T65S |
probably benign |
Het |
Bdh2 |
A |
G |
3: 134,996,774 (GRCm39) |
I90V |
probably benign |
Het |
Bsph1 |
T |
A |
7: 13,206,988 (GRCm39) |
N121K |
probably damaging |
Het |
Cd96 |
T |
C |
16: 45,938,153 (GRCm39) |
Y104C |
possibly damaging |
Het |
Chdh |
T |
C |
14: 29,753,570 (GRCm39) |
W160R |
probably damaging |
Het |
Clock |
A |
G |
5: 76,393,365 (GRCm39) |
F193L |
probably damaging |
Het |
Copz1 |
A |
G |
15: 103,204,958 (GRCm39) |
|
probably null |
Het |
Cyp2c38 |
T |
C |
19: 39,379,500 (GRCm39) |
T450A |
probably damaging |
Het |
Cyp2d34 |
A |
T |
15: 82,501,751 (GRCm39) |
I253K |
probably benign |
Het |
Dhrs13 |
G |
T |
11: 77,927,789 (GRCm39) |
A212S |
probably damaging |
Het |
Ecsit |
T |
C |
9: 21,987,796 (GRCm39) |
N81S |
probably benign |
Het |
Efl1 |
A |
G |
7: 82,301,094 (GRCm39) |
T33A |
probably damaging |
Het |
Emid1 |
T |
C |
11: 5,093,866 (GRCm39) |
R92G |
probably damaging |
Het |
Ermp1 |
A |
G |
19: 29,609,941 (GRCm39) |
|
probably benign |
Het |
Fn1 |
A |
T |
1: 71,634,968 (GRCm39) |
|
probably null |
Het |
Hps5 |
A |
G |
7: 46,432,893 (GRCm39) |
|
probably null |
Het |
Hsd17b3 |
T |
C |
13: 64,236,882 (GRCm39) |
M21V |
probably benign |
Het |
Kat6b |
T |
C |
14: 21,718,849 (GRCm39) |
V1176A |
probably benign |
Het |
Midn |
A |
G |
10: 79,992,336 (GRCm39) |
K463E |
probably damaging |
Het |
Mier1 |
A |
G |
4: 102,996,631 (GRCm39) |
E103G |
probably damaging |
Het |
Muc15 |
A |
G |
2: 110,564,160 (GRCm39) |
N232S |
possibly damaging |
Het |
Ncoa2 |
T |
A |
1: 13,294,875 (GRCm39) |
E15V |
probably damaging |
Het |
Or10a5 |
A |
T |
7: 106,635,889 (GRCm39) |
N176Y |
probably damaging |
Het |
Or2n1d |
A |
G |
17: 38,646,735 (GRCm39) |
K229R |
probably benign |
Het |
Or52n2b |
T |
A |
7: 104,565,841 (GRCm39) |
T221S |
probably benign |
Het |
Pate14 |
C |
T |
9: 36,549,176 (GRCm39) |
G28E |
probably benign |
Het |
Pigf |
A |
T |
17: 87,327,923 (GRCm39) |
F115I |
probably benign |
Het |
Prpsap1 |
A |
T |
11: 116,362,317 (GRCm39) |
V355E |
probably damaging |
Het |
Ptprk |
G |
T |
10: 28,359,294 (GRCm39) |
|
probably benign |
Het |
Rae1 |
G |
A |
2: 172,846,957 (GRCm39) |
R67H |
probably damaging |
Het |
Sema3a |
G |
A |
5: 13,606,494 (GRCm39) |
|
probably null |
Het |
Slc22a22 |
T |
C |
15: 57,126,758 (GRCm39) |
T104A |
probably benign |
Het |
Slc38a2 |
A |
T |
15: 96,593,168 (GRCm39) |
L137* |
probably null |
Het |
Smgc |
A |
G |
15: 91,725,670 (GRCm39) |
|
probably benign |
Het |
Syce3 |
A |
G |
15: 89,274,648 (GRCm39) |
|
probably benign |
Het |
Syt9 |
T |
A |
7: 107,024,343 (GRCm39) |
W79R |
probably damaging |
Het |
Tgoln1 |
A |
C |
6: 72,592,974 (GRCm39) |
S169A |
probably benign |
Het |
Thnsl1 |
A |
G |
2: 21,216,477 (GRCm39) |
D77G |
probably benign |
Het |
Tsr1 |
T |
A |
11: 74,798,767 (GRCm39) |
V712E |
probably damaging |
Het |
Wdr12 |
C |
T |
1: 60,128,525 (GRCm39) |
|
probably benign |
Het |
Xdh |
T |
A |
17: 74,250,886 (GRCm39) |
N22I |
probably damaging |
Het |
Zfp3 |
T |
A |
11: 70,662,395 (GRCm39) |
L118Q |
probably benign |
Het |
Zfp609 |
T |
A |
9: 65,638,483 (GRCm39) |
M250L |
probably benign |
Het |
Zfp94 |
A |
T |
7: 24,002,495 (GRCm39) |
S316T |
probably damaging |
Het |
Zfp955b |
A |
G |
17: 33,521,947 (GRCm39) |
N472S |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCAGTAGTACGATGGACCACAG -3'
(R):5'- GGAAAAGATGCCCAGAGTTACACCC -3'
Sequencing Primer
(F):5'- TGGAGTCTCCTGAGGACATC -3'
(R):5'- CAGAGTTACACCCCTGGC -3'
|
Posted On |
2014-08-18 |