Incidental Mutation 'R7737:Zfp592'
| ID |
596319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp592
|
| Ensembl Gene |
ENSMUSG00000005621 |
| Gene Name |
zinc finger protein 592 |
| Synonyms |
|
| MMRRC Submission |
045793-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.937)
|
| Stock # |
R7737 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
80993681-81045164 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 81025193 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 635
(H635L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107353]
|
| AlphaFold |
Q8BHZ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107353
AA Change: H635L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102976
Gene: ENSMUSG00000005621
AA Change: H635L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (63/64) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410141K09Rik |
A |
G |
13: 66,433,677 (GRCm38) |
|
probably null |
Het |
| 9530053A07Rik |
T |
A |
7: 28,157,073 (GRCm38) |
V2095E |
probably damaging |
Het |
| Adamts18 |
A |
T |
8: 113,736,934 (GRCm38) |
|
probably null |
Het |
| Akap3 |
T |
A |
6: 126,874,102 (GRCm38) |
M861K |
probably damaging |
Het |
| Ankrd42 |
T |
C |
7: 92,605,262 (GRCm38) |
T380A |
possibly damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,273,794 (GRCm38) |
E493G |
possibly damaging |
Het |
| Armc4 |
A |
G |
18: 7,217,890 (GRCm38) |
L608P |
probably damaging |
Het |
| Arvcf |
G |
A |
16: 18,397,101 (GRCm38) |
R119Q |
probably damaging |
Het |
| Asmt |
T |
C |
X: 170,676,440 (GRCm38) |
F228S |
probably damaging |
Het |
| Atp2c2 |
T |
A |
8: 119,742,395 (GRCm38) |
V349E |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,241,673 (GRCm38) |
V233A |
possibly damaging |
Het |
| Brinp3 |
G |
T |
1: 146,682,594 (GRCm38) |
K85N |
probably damaging |
Het |
| Ccr6 |
G |
A |
17: 8,245,094 (GRCm38) |
|
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 134,270,201 (GRCm38) |
S644P |
probably damaging |
Het |
| Ddb1 |
C |
T |
19: 10,625,974 (GRCm38) |
A882V |
possibly damaging |
Het |
| Epha4 |
C |
T |
1: 77,381,012 (GRCm38) |
G783D |
probably damaging |
Het |
| Ephb1 |
T |
A |
9: 101,984,103 (GRCm38) |
I621F |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,701,263 (GRCm38) |
Y93* |
probably null |
Het |
| Gak |
A |
C |
5: 108,617,008 (GRCm38) |
L84R |
probably benign |
Het |
| Gm21671 |
AACT |
A |
5: 25,950,851 (GRCm38) |
|
probably benign |
Het |
| Gm5458 |
A |
T |
14: 19,599,737 (GRCm38) |
|
probably null |
Het |
| Gpatch3 |
C |
G |
4: 133,575,096 (GRCm38) |
Q113E |
probably benign |
Het |
| Gpld1 |
C |
A |
13: 24,975,726 (GRCm38) |
L426M |
probably damaging |
Het |
| Ighmbp2 |
G |
A |
19: 3,274,467 (GRCm38) |
P234S |
unknown |
Het |
| Itga6 |
G |
A |
2: 71,822,443 (GRCm38) |
V217I |
probably benign |
Het |
| Kdm7a |
A |
T |
6: 39,144,404 (GRCm38) |
N872K |
probably benign |
Het |
| Klhl14 |
G |
T |
18: 21,558,134 (GRCm38) |
Y446* |
probably null |
Het |
| Larp4b |
T |
A |
13: 9,170,643 (GRCm38) |
|
probably null |
Het |
| Lct |
A |
T |
1: 128,298,693 (GRCm38) |
W1320R |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,496,438 (GRCm38) |
D1763G |
possibly damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,815,446 (GRCm38) |
N2499Y |
probably damaging |
Het |
| Lsg1 |
T |
C |
16: 30,581,185 (GRCm38) |
|
probably null |
Het |
| Mettl15 |
T |
C |
2: 109,137,378 (GRCm38) |
K188E |
probably damaging |
Het |
| Mfsd4b1 |
A |
G |
10: 40,003,278 (GRCm38) |
S208P |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,135,381 (GRCm38) |
S793P |
possibly damaging |
Het |
| Ms4a14 |
G |
A |
19: 11,302,786 (GRCm38) |
Q803* |
probably null |
Het |
| Mtor |
A |
C |
4: 148,538,738 (GRCm38) |
E2015A |
possibly damaging |
Het |
| Myo15b |
A |
T |
11: 115,887,923 (GRCm38) |
Y2581F |
unknown |
Het |
| Myo7b |
A |
T |
18: 32,014,204 (GRCm38) |
Y95* |
probably null |
Het |
| Nf1 |
A |
G |
11: 79,545,488 (GRCm38) |
I1985V |
probably benign |
Het |
| Noxred1 |
G |
A |
12: 87,221,362 (GRCm38) |
Q332* |
probably null |
Het |
| Nudt21 |
A |
T |
8: 94,022,833 (GRCm38) |
Y202N |
probably damaging |
Het |
| Olfr345 |
A |
T |
2: 36,640,620 (GRCm38) |
I194F |
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 116,356,253 (GRCm38) |
S1176T |
probably damaging |
Het |
| Pramef17 |
A |
C |
4: 143,991,956 (GRCm38) |
S306A |
possibly damaging |
Het |
| Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,457,541 (GRCm38) |
|
probably benign |
Het |
| Rbmxl1 |
A |
G |
8: 78,505,623 (GRCm38) |
S364P |
unknown |
Het |
| Rnf24 |
T |
A |
2: 131,303,496 (GRCm38) |
K131N |
probably benign |
Het |
| Scai |
T |
A |
2: 39,123,022 (GRCm38) |
Q132L |
probably damaging |
Het |
| Sh3tc1 |
T |
C |
5: 35,723,953 (GRCm38) |
R49G |
probably benign |
Het |
| Slc12a7 |
A |
G |
13: 73,788,677 (GRCm38) |
E152G |
probably benign |
Het |
| Slc22a27 |
A |
T |
19: 7,896,762 (GRCm38) |
M316K |
probably damaging |
Het |
| Spag1 |
G |
T |
15: 36,210,710 (GRCm38) |
A427S |
probably benign |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm38) |
|
probably benign |
Het |
| Stk16 |
G |
T |
1: 75,211,351 (GRCm38) |
C8F |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,942,848 (GRCm38) |
C1834R |
probably damaging |
Het |
| Tie1 |
C |
T |
4: 118,478,857 (GRCm38) |
|
probably null |
Het |
| Timp2 |
A |
G |
11: 118,303,895 (GRCm38) |
I156T |
probably damaging |
Het |
| Tmem163 |
A |
G |
1: 127,491,610 (GRCm38) |
M286T |
possibly damaging |
Het |
| Tmx4 |
T |
A |
2: 134,639,668 (GRCm38) |
M112L |
probably benign |
Het |
| Trank1 |
G |
T |
9: 111,366,012 (GRCm38) |
E1035* |
probably null |
Het |
| Trim5 |
C |
T |
7: 104,279,564 (GRCm38) |
V57M |
probably damaging |
Het |
| Ubr3 |
A |
G |
2: 69,991,566 (GRCm38) |
S1391G |
probably benign |
Het |
| Vmn1r72 |
A |
T |
7: 11,669,707 (GRCm38) |
S271R |
probably damaging |
Het |
| Xpo5 |
G |
A |
17: 46,236,090 (GRCm38) |
|
probably null |
Het |
| Zfp791 |
A |
T |
8: 85,112,215 (GRCm38) |
N62K |
probably benign |
Het |
| Zmynd11 |
G |
A |
13: 9,695,139 (GRCm38) |
T248M |
probably damaging |
Het |
|
| Other mutations in Zfp592 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01331:Zfp592
|
APN |
7 |
81,041,548 (GRCm38) |
nonsense |
probably null |
|
|
IGL01984:Zfp592
|
APN |
7 |
81,038,644 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02079:Zfp592
|
APN |
7 |
81,039,230 (GRCm38) |
missense |
probably benign |
0.20 |
|
IGL02096:Zfp592
|
APN |
7 |
81,025,048 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02125:Zfp592
|
APN |
7 |
81,038,184 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02374:Zfp592
|
APN |
7 |
81,024,983 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02419:Zfp592
|
APN |
7 |
81,038,245 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02466:Zfp592
|
APN |
7 |
81,023,998 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02485:Zfp592
|
APN |
7 |
81,037,970 (GRCm38) |
splice site |
probably benign |
|
|
IGL02500:Zfp592
|
APN |
7 |
81,041,726 (GRCm38) |
missense |
probably benign |
|
|
IGL02876:Zfp592
|
APN |
7 |
81,038,127 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02940:Zfp592
|
APN |
7 |
81,024,827 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0326:Zfp592
|
UTSW |
7 |
81,024,889 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R0634:Zfp592
|
UTSW |
7 |
81,038,071 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0684:Zfp592
|
UTSW |
7 |
81,037,875 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0750:Zfp592
|
UTSW |
7 |
81,024,745 (GRCm38) |
missense |
probably benign |
|
|
R1346:Zfp592
|
UTSW |
7 |
81,038,064 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R1457:Zfp592
|
UTSW |
7 |
81,024,479 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1650:Zfp592
|
UTSW |
7 |
81,038,100 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1804:Zfp592
|
UTSW |
7 |
81,023,695 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1918:Zfp592
|
UTSW |
7 |
81,037,420 (GRCm38) |
nonsense |
probably null |
|
|
R2114:Zfp592
|
UTSW |
7 |
81,024,796 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2144:Zfp592
|
UTSW |
7 |
81,038,202 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2164:Zfp592
|
UTSW |
7 |
81,041,438 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R2246:Zfp592
|
UTSW |
7 |
81,041,613 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R3701:Zfp592
|
UTSW |
7 |
81,037,411 (GRCm38) |
nonsense |
probably null |
|
|
R3809:Zfp592
|
UTSW |
7 |
81,024,532 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4574:Zfp592
|
UTSW |
7 |
81,023,786 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4866:Zfp592
|
UTSW |
7 |
81,041,859 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5023:Zfp592
|
UTSW |
7 |
81,024,347 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5121:Zfp592
|
UTSW |
7 |
81,023,561 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5174:Zfp592
|
UTSW |
7 |
81,038,325 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5794:Zfp592
|
UTSW |
7 |
81,025,033 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5946:Zfp592
|
UTSW |
7 |
81,037,897 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6312:Zfp592
|
UTSW |
7 |
81,023,436 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6657:Zfp592
|
UTSW |
7 |
81,025,486 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R6814:Zfp592
|
UTSW |
7 |
81,023,828 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6872:Zfp592
|
UTSW |
7 |
81,023,828 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7056:Zfp592
|
UTSW |
7 |
81,023,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7295:Zfp592
|
UTSW |
7 |
81,024,322 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7351:Zfp592
|
UTSW |
7 |
81,041,691 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7475:Zfp592
|
UTSW |
7 |
81,023,452 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7509:Zfp592
|
UTSW |
7 |
81,038,340 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7552:Zfp592
|
UTSW |
7 |
81,023,642 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7752:Zfp592
|
UTSW |
7 |
81,024,721 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7901:Zfp592
|
UTSW |
7 |
81,024,721 (GRCm38) |
missense |
probably benign |
0.13 |
|
R8100:Zfp592
|
UTSW |
7 |
81,024,192 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8440:Zfp592
|
UTSW |
7 |
81,041,523 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R8710:Zfp592
|
UTSW |
7 |
81,023,573 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8766:Zfp592
|
UTSW |
7 |
81,024,605 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9083:Zfp592
|
UTSW |
7 |
81,024,896 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9141:Zfp592
|
UTSW |
7 |
81,024,457 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9194:Zfp592
|
UTSW |
7 |
81,024,601 (GRCm38) |
missense |
probably benign |
|
|
R9197:Zfp592
|
UTSW |
7 |
81,024,319 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R9246:Zfp592
|
UTSW |
7 |
81,041,781 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9321:Zfp592
|
UTSW |
7 |
81,041,478 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R9426:Zfp592
|
UTSW |
7 |
81,024,457 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9785:Zfp592
|
UTSW |
7 |
81,023,497 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0022:Zfp592
|
UTSW |
7 |
81,038,187 (GRCm38) |
nonsense |
probably null |
|
|
X0028:Zfp592
|
UTSW |
7 |
81,024,014 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGTCCTTCACAGCTCTAACC -3'
(R):5'- TGGCATTGTCCAAAGTGGGG -3'
Sequencing Primer
(F):5'- TCTATGCGCCAAATCTCAGC -3'
(R):5'- TCCAAAGTGGGGCTGGG -3'
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| Posted On |
2019-11-26 |
Incidental Mutation