Incidental Mutation 'R7056:Zfp592'
| ID |
547921 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp592
|
| Ensembl Gene |
ENSMUSG00000005621 |
| Gene Name |
zinc finger protein 592 |
| Synonyms |
A730014M16Rik |
| MMRRC Submission |
045153-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.929)
|
| Stock # |
R7056 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
80643432-80694912 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80673067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 10
(D10E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107353]
|
| AlphaFold |
Q8BHZ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107353
AA Change: D10E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102976
Gene: ENSMUSG00000005621
AA Change: D10E
| 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 |
|
| Meta Mutation Damage Score |
0.5458 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (62/62) |
| 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 |
|---|
| Atr |
T |
A |
9: 95,744,916 (GRCm39) |
S78T |
probably damaging |
Het |
| B2m |
T |
C |
2: 121,981,465 (GRCm39) |
L60P |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Cep350 |
A |
C |
1: 155,724,373 (GRCm39) |
I3075S |
probably damaging |
Het |
| Cep97 |
A |
G |
16: 55,725,935 (GRCm39) |
S651P |
probably damaging |
Het |
| Chrna5 |
C |
T |
9: 54,888,985 (GRCm39) |
|
probably benign |
Het |
| Cog5 |
T |
C |
12: 31,715,468 (GRCm39) |
V80A |
possibly damaging |
Het |
| Col9a2 |
G |
A |
4: 120,906,913 (GRCm39) |
|
probably null |
Het |
| Cop1 |
C |
T |
1: 159,077,647 (GRCm39) |
L161F |
probably damaging |
Het |
| Cyp4f17 |
A |
T |
17: 32,746,846 (GRCm39) |
M383L |
possibly damaging |
Het |
| Dennd4a |
A |
G |
9: 64,814,205 (GRCm39) |
D1474G |
possibly damaging |
Het |
| Dgkb |
A |
C |
12: 38,150,492 (GRCm39) |
S100R |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,016,212 (GRCm39) |
V309A |
probably benign |
Het |
| Dner |
C |
A |
1: 84,558,457 (GRCm39) |
R169L |
possibly damaging |
Het |
| Dus1l |
T |
C |
11: 120,682,120 (GRCm39) |
E362G |
probably benign |
Het |
| Eed |
A |
T |
7: 89,619,564 (GRCm39) |
S168T |
possibly damaging |
Het |
| Eif3a |
T |
A |
19: 60,751,500 (GRCm39) |
|
probably null |
Het |
| Fam234b |
A |
G |
6: 135,205,450 (GRCm39) |
S472G |
probably benign |
Het |
| Fbn2 |
T |
A |
18: 58,209,798 (GRCm39) |
T1028S |
probably benign |
Het |
| Fbxw16 |
A |
G |
9: 109,265,352 (GRCm39) |
V393A |
possibly damaging |
Het |
| Fig4 |
A |
T |
10: 41,096,928 (GRCm39) |
L838Q |
probably benign |
Het |
| Gm13941 |
T |
G |
2: 110,927,147 (GRCm39) |
S137R |
unknown |
Het |
| Gm9938 |
T |
G |
19: 23,701,981 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
T |
G |
3: 59,238,501 (GRCm39) |
D560A |
probably damaging |
Het |
| Lrrk2 |
T |
A |
15: 91,659,198 (GRCm39) |
L1870* |
probably null |
Het |
| Mep1b |
T |
A |
18: 21,224,247 (GRCm39) |
Y347N |
probably damaging |
Het |
| Mepce |
T |
C |
5: 137,780,968 (GRCm39) |
N613D |
probably damaging |
Het |
| Mgat3 |
T |
G |
15: 80,096,097 (GRCm39) |
L308R |
probably damaging |
Het |
| Morc2a |
A |
G |
11: 3,625,925 (GRCm39) |
Y175C |
probably damaging |
Het |
| Necab2 |
A |
G |
8: 120,178,878 (GRCm39) |
N98S |
probably benign |
Het |
| Net1 |
T |
C |
13: 3,934,845 (GRCm39) |
M394V |
probably benign |
Het |
| Nfat5 |
G |
A |
8: 108,094,738 (GRCm39) |
G993D |
probably damaging |
Het |
| Obscn |
C |
A |
11: 58,887,122 (GRCm39) |
|
probably benign |
Het |
| Olr1 |
T |
C |
6: 129,465,904 (GRCm39) |
H34R |
probably damaging |
Het |
| Or2ab1 |
A |
G |
11: 58,489,044 (GRCm39) |
Y274C |
probably damaging |
Het |
| Or4f60 |
T |
C |
2: 111,902,662 (GRCm39) |
N89D |
probably benign |
Het |
| Pmm2 |
T |
A |
16: 8,460,628 (GRCm39) |
F27L |
probably damaging |
Het |
| Ptpdc1 |
C |
A |
13: 48,740,466 (GRCm39) |
V261F |
possibly damaging |
Het |
| Pyroxd1 |
G |
T |
6: 142,304,808 (GRCm39) |
R345L |
probably benign |
Het |
| Radil |
A |
T |
5: 142,480,109 (GRCm39) |
C670* |
probably null |
Het |
| Rasgrf2 |
C |
T |
13: 92,167,203 (GRCm39) |
S290N |
probably damaging |
Het |
| Rbm33 |
T |
C |
5: 28,599,001 (GRCm39) |
|
probably benign |
Het |
| Rnf111 |
A |
T |
9: 70,360,957 (GRCm39) |
S501R |
possibly damaging |
Het |
| Sel1l2 |
T |
A |
2: 140,087,334 (GRCm39) |
I446F |
probably benign |
Het |
| Sh3pxd2b |
T |
C |
11: 32,372,737 (GRCm39) |
S635P |
probably benign |
Het |
| Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,745,623 (GRCm39) |
|
probably benign |
Het |
| Sorcs2 |
C |
A |
5: 36,225,474 (GRCm39) |
D132Y |
probably damaging |
Het |
| Sox18 |
T |
C |
2: 181,313,280 (GRCm39) |
D12G |
probably damaging |
Het |
| Srsf4 |
G |
T |
4: 131,628,004 (GRCm39) |
|
probably benign |
Het |
| Susd4 |
C |
A |
1: 182,660,721 (GRCm39) |
T81N |
probably benign |
Het |
| Tmem256 |
G |
T |
11: 69,729,416 (GRCm39) |
|
probably benign |
Het |
| Tor4a |
T |
C |
2: 25,084,853 (GRCm39) |
H350R |
probably benign |
Het |
| Ugt2a3 |
T |
A |
5: 87,484,953 (GRCm39) |
S24C |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r77 |
C |
T |
7: 86,451,023 (GRCm39) |
T303I |
probably benign |
Het |
| Wdr70 |
T |
A |
15: 7,913,877 (GRCm39) |
I591F |
possibly damaging |
Het |
| Wdr93 |
T |
C |
7: 79,399,088 (GRCm39) |
I74T |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,809,784 (GRCm39) |
C1087S |
probably damaging |
Het |
| Zfp69 |
A |
G |
4: 120,788,295 (GRCm39) |
V340A |
probably benign |
Het |
| Zswim2 |
C |
T |
2: 83,751,092 (GRCm39) |
|
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 |
|
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'- CAGCAGGCTAGAAACCTTAGAG -3'
(R):5'- ACAATGACACTCACGGCTGG -3'
Sequencing Primer
(F):5'- ACTCAGGTATGTGACTTCTTATCG -3'
(R):5'- TGGCACATCTGGGGCTGATC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation