Incidental Mutation 'R1804:Zfp592'
| ID |
203382 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp592
|
| Ensembl Gene |
ENSMUSG00000005621 |
| Gene Name |
zinc finger protein 592 |
| Synonyms |
A730014M16Rik |
| MMRRC Submission |
039834-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.926)
|
| Stock # |
R1804 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
80643432-80694912 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 80673443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 136
(P136T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107353]
|
| AlphaFold |
Q8BHZ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107353
AA Change: P136T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102976
Gene: ENSMUSG00000005621
AA Change: P136T
| 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
|
| Meta Mutation Damage Score |
0.0757 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.5%
- 20x: 89.8%
|
| Validation Efficiency |
96% (77/80) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
A |
G |
1: 183,765,400 (GRCm39) |
Y220H |
probably benign |
Het |
| 4930579C12Rik |
T |
C |
9: 89,034,113 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc8 |
T |
C |
7: 45,769,903 (GRCm39) |
S871G |
probably benign |
Het |
| Acly |
T |
C |
11: 100,406,731 (GRCm39) |
Y288C |
probably damaging |
Het |
| Adgrb1 |
T |
A |
15: 74,401,389 (GRCm39) |
D128E |
probably damaging |
Het |
| Alms1 |
C |
T |
6: 85,598,257 (GRCm39) |
Q1497* |
probably null |
Het |
| Bltp2 |
A |
G |
11: 78,164,295 (GRCm39) |
H1165R |
probably damaging |
Het |
| Cacna1c |
G |
A |
6: 118,664,007 (GRCm39) |
T688M |
probably damaging |
Het |
| Ccdc7a |
A |
T |
8: 129,715,247 (GRCm39) |
L279* |
probably null |
Het |
| Cep135 |
A |
G |
5: 76,784,779 (GRCm39) |
E958G |
probably benign |
Het |
| Clec4n |
G |
T |
6: 123,206,981 (GRCm39) |
V2L |
possibly damaging |
Het |
| Col28a1 |
C |
T |
6: 8,164,612 (GRCm39) |
|
probably null |
Het |
| Dcaf5 |
A |
G |
12: 80,386,603 (GRCm39) |
S508P |
probably benign |
Het |
| Dlgap2 |
C |
A |
8: 14,777,809 (GRCm39) |
N351K |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 30,927,381 (GRCm39) |
Y1346N |
probably benign |
Het |
| Dqx1 |
T |
C |
6: 83,037,303 (GRCm39) |
V322A |
probably damaging |
Het |
| Ebf3 |
A |
C |
7: 136,802,250 (GRCm39) |
L412V |
possibly damaging |
Het |
| Epha5 |
T |
C |
5: 84,479,674 (GRCm39) |
N110S |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,785,564 (GRCm39) |
C334R |
probably benign |
Het |
| Glp1r |
T |
A |
17: 31,149,687 (GRCm39) |
|
probably null |
Het |
| Gm4952 |
G |
T |
19: 12,595,784 (GRCm39) |
R58L |
probably damaging |
Het |
| Gm7579 |
G |
A |
7: 141,765,675 (GRCm39) |
C27Y |
unknown |
Het |
| Golm1 |
T |
A |
13: 59,790,203 (GRCm39) |
|
probably null |
Het |
| Gucy2g |
T |
A |
19: 55,198,741 (GRCm39) |
I801F |
probably benign |
Het |
| H2-D1 |
T |
C |
17: 35,482,528 (GRCm39) |
Y83H |
probably damaging |
Het |
| Homez |
A |
T |
14: 55,094,598 (GRCm39) |
I19N |
probably damaging |
Het |
| Hoxa5 |
T |
C |
6: 52,179,628 (GRCm39) |
K249R |
probably damaging |
Het |
| Hsd17b4 |
A |
T |
18: 50,311,051 (GRCm39) |
N550Y |
probably damaging |
Het |
| Ipo4 |
A |
T |
14: 55,866,913 (GRCm39) |
N668K |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klb |
A |
G |
5: 65,537,196 (GRCm39) |
D842G |
probably damaging |
Het |
| Minar1 |
T |
A |
9: 89,485,152 (GRCm39) |
M82L |
possibly damaging |
Het |
| Mmp21 |
G |
T |
7: 133,280,611 (GRCm39) |
P120T |
probably benign |
Het |
| Mroh7 |
T |
A |
4: 106,551,589 (GRCm39) |
I918F |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,417,517 (GRCm39) |
T3488A |
possibly damaging |
Het |
| Npc1 |
C |
T |
18: 12,356,145 (GRCm39) |
C42Y |
probably damaging |
Het |
| Ogdh |
A |
G |
11: 6,288,565 (GRCm39) |
Y214C |
probably damaging |
Het |
| Or2q1 |
G |
A |
6: 42,795,155 (GRCm39) |
C250Y |
possibly damaging |
Het |
| Or4k15c |
A |
T |
14: 50,321,359 (GRCm39) |
W260R |
probably damaging |
Het |
| Or4k35 |
T |
C |
2: 111,100,275 (GRCm39) |
M146V |
probably benign |
Het |
| Or5al1 |
G |
T |
2: 85,990,417 (GRCm39) |
T99N |
probably benign |
Het |
| Or8d23 |
A |
G |
9: 38,841,946 (GRCm39) |
T160A |
possibly damaging |
Het |
| Phtf1 |
A |
G |
3: 103,894,883 (GRCm39) |
|
probably benign |
Het |
| Plb1 |
A |
G |
5: 32,511,041 (GRCm39) |
N1302S |
possibly damaging |
Het |
| Prex2 |
A |
G |
1: 11,202,566 (GRCm39) |
K492E |
probably damaging |
Het |
| Prkaa1 |
A |
G |
15: 5,208,259 (GRCm39) |
D509G |
probably benign |
Het |
| Rims2 |
C |
T |
15: 39,300,439 (GRCm39) |
Q57* |
probably null |
Het |
| Rnf40 |
T |
C |
7: 127,195,120 (GRCm39) |
V411A |
possibly damaging |
Het |
| Rraga |
A |
G |
4: 86,494,681 (GRCm39) |
I176V |
probably damaging |
Het |
| Rrm2 |
T |
C |
12: 24,758,611 (GRCm39) |
I51T |
probably benign |
Het |
| Serpina3a |
T |
A |
12: 104,084,675 (GRCm39) |
|
probably benign |
Het |
| Skint7 |
T |
C |
4: 111,839,209 (GRCm39) |
W168R |
probably damaging |
Het |
| Slc27a4 |
A |
G |
2: 29,701,279 (GRCm39) |
M357V |
probably benign |
Het |
| Slc4a3 |
A |
G |
1: 75,528,361 (GRCm39) |
H452R |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 85,011,991 (GRCm39) |
I127K |
possibly damaging |
Het |
| Snap91 |
T |
A |
9: 86,665,470 (GRCm39) |
M383L |
probably benign |
Het |
| Taf6l |
A |
T |
19: 8,750,998 (GRCm39) |
L52Q |
probably damaging |
Het |
| Tas1r3 |
G |
A |
4: 155,944,927 (GRCm39) |
R765C |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,732,488 (GRCm39) |
I266V |
probably benign |
Het |
| Tesk2 |
T |
C |
4: 116,657,818 (GRCm39) |
|
probably benign |
Het |
| Tmem131l |
T |
G |
3: 83,817,786 (GRCm39) |
Q1237P |
possibly damaging |
Het |
| Tmem67 |
A |
G |
4: 12,045,789 (GRCm39) |
|
probably null |
Het |
| Tnfaip8 |
T |
A |
18: 50,223,728 (GRCm39) |
C179S |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,365,926 (GRCm39) |
|
probably null |
Het |
| Vps13b |
A |
T |
15: 35,917,283 (GRCm39) |
E3709V |
probably damaging |
Het |
| Wdr7 |
A |
T |
18: 63,998,511 (GRCm39) |
S1153C |
probably damaging |
Het |
| Zc2hc1b |
A |
C |
10: 13,047,012 (GRCm39) |
|
probably benign |
Het |
| Zfp438 |
A |
G |
18: 5,213,689 (GRCm39) |
I423T |
probably damaging |
Het |
| Zfp783 |
T |
A |
6: 47,922,819 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp804b |
A |
T |
5: 6,821,756 (GRCm39) |
S400T |
possibly 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 |
|
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'- CAGCCGTGAGTGTCATTGTC -3'
(R):5'- TGATCAAACATGTGTAGTTCCGGG -3'
Sequencing Primer
(F):5'- CGTGAGTGTCATTGTCAAGAACACC -3'
(R):5'- GACTGGGAATTTTGACAGAGCTTCC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation