Incidental Mutation 'IGL03391:Gzf1'
| ID |
421064 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gzf1
|
| Ensembl Gene |
ENSMUSG00000027439 |
| Gene Name |
GDNF-inducible zinc finger protein 1 |
| Synonyms |
Zfp336, 8430437G08Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.447)
|
| Stock # |
IGL03391
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
148522943-148534869 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 148525603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 25
(R25S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121799
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028928]
[ENSMUST00000131292]
|
| AlphaFold |
Q4VBD9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028928
AA Change: R25S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028928
Gene: ENSMUSG00000027439
AA Change: R25S
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
31 |
133 |
2.01e-20 |
SMART |
|
low complexity region
|
199 |
213 |
N/A |
INTRINSIC |
|
coiled coil region
|
287 |
308 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
315 |
337 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
346 |
369 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
375 |
398 |
8.34e-3 |
SMART |
|
ZnF_C2H2
|
405 |
427 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
433 |
455 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
461 |
483 |
1.43e-1 |
SMART |
|
ZnF_C2H2
|
489 |
511 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
517 |
539 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
545 |
567 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
573 |
595 |
1.04e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131292
AA Change: R25S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121799
Gene: ENSMUSG00000027439
AA Change: R25S
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
31 |
133 |
2.01e-20 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151362
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(5) : Gene trapped(5)
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,846,107 (GRCm39) |
D586G |
probably damaging |
Het |
| Acadvl |
A |
C |
11: 69,901,542 (GRCm39) |
M557R |
probably damaging |
Het |
| Ano2 |
T |
A |
6: 125,784,802 (GRCm39) |
N327K |
probably damaging |
Het |
| Cdh11 |
A |
T |
8: 103,400,655 (GRCm39) |
D104E |
possibly damaging |
Het |
| Chrnb2 |
A |
G |
3: 89,668,184 (GRCm39) |
F377S |
probably damaging |
Het |
| Cngb1 |
T |
C |
8: 96,030,333 (GRCm39) |
|
probably benign |
Het |
| Dnaaf1 |
C |
T |
8: 120,309,355 (GRCm39) |
R148C |
probably damaging |
Het |
| Esrrg |
A |
T |
1: 187,882,420 (GRCm39) |
I226F |
possibly damaging |
Het |
| Evl |
C |
A |
12: 108,642,358 (GRCm39) |
|
probably null |
Het |
| Gpam |
T |
C |
19: 55,070,128 (GRCm39) |
E376G |
probably damaging |
Het |
| Ighv5-2 |
A |
T |
12: 113,542,138 (GRCm39) |
Y113* |
probably null |
Het |
| Izumo4 |
A |
G |
10: 80,540,947 (GRCm39) |
T216A |
probably damaging |
Het |
| Lrp1b |
T |
G |
2: 41,185,653 (GRCm39) |
Y1354S |
possibly damaging |
Het |
| Mark1 |
A |
G |
1: 184,651,632 (GRCm39) |
|
probably benign |
Het |
| Mylpf |
A |
G |
7: 126,812,349 (GRCm39) |
I17V |
probably benign |
Het |
| Myo18b |
C |
A |
5: 113,022,345 (GRCm39) |
|
probably benign |
Het |
| Nbas |
C |
T |
12: 13,533,750 (GRCm39) |
A1795V |
probably benign |
Het |
| Oprm1 |
A |
C |
10: 6,964,077 (GRCm39) |
|
probably benign |
Het |
| Or2ag15 |
A |
T |
7: 106,340,962 (GRCm39) |
Y60N |
probably damaging |
Het |
| Or5b122 |
A |
G |
19: 13,563,483 (GRCm39) |
M272V |
probably benign |
Het |
| Or5w1 |
A |
G |
2: 87,487,032 (GRCm39) |
S78P |
possibly damaging |
Het |
| Parp14 |
T |
C |
16: 35,678,640 (GRCm39) |
M443V |
probably benign |
Het |
| Psca |
T |
C |
15: 74,586,717 (GRCm39) |
F5S |
probably benign |
Het |
| Ptbp2 |
A |
T |
3: 119,514,031 (GRCm39) |
Y514* |
probably null |
Het |
| Scg3 |
A |
G |
9: 75,568,533 (GRCm39) |
|
probably null |
Het |
| Scn2a |
T |
C |
2: 65,594,557 (GRCm39) |
V1802A |
probably damaging |
Het |
| Serpinb3a |
A |
G |
1: 106,974,072 (GRCm39) |
S280P |
possibly damaging |
Het |
| Slc39a14 |
T |
C |
14: 70,547,291 (GRCm39) |
I352V |
probably damaging |
Het |
| Slc6a2 |
G |
T |
8: 93,688,080 (GRCm39) |
V69L |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,740,067 (GRCm39) |
|
probably benign |
Het |
| Tjp1 |
T |
C |
7: 64,964,717 (GRCm39) |
D818G |
probably damaging |
Het |
| Tnfaip8 |
T |
C |
18: 50,223,552 (GRCm39) |
V120A |
probably damaging |
Het |
| Trmt5 |
G |
A |
12: 73,328,226 (GRCm39) |
H326Y |
probably benign |
Het |
| Vmn1r222 |
T |
C |
13: 23,416,632 (GRCm39) |
M194V |
possibly damaging |
Het |
| Zbtb17 |
A |
G |
4: 141,194,069 (GRCm39) |
E699G |
probably damaging |
Het |
|
| Other mutations in Gzf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01129:Gzf1
|
APN |
2 |
148,532,916 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01647:Gzf1
|
APN |
2 |
148,525,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01789:Gzf1
|
APN |
2 |
148,525,981 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01791:Gzf1
|
APN |
2 |
148,525,981 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01952:Gzf1
|
APN |
2 |
148,525,981 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01954:Gzf1
|
APN |
2 |
148,525,981 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01956:Gzf1
|
APN |
2 |
148,525,981 (GRCm39) |
missense |
probably benign |
0.41 |
|
I0000:Gzf1
|
UTSW |
2 |
148,528,540 (GRCm39) |
unclassified |
probably benign |
|
|
P0019:Gzf1
|
UTSW |
2 |
148,525,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0420:Gzf1
|
UTSW |
2 |
148,525,753 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0725:Gzf1
|
UTSW |
2 |
148,526,569 (GRCm39) |
nonsense |
probably null |
|
|
R1131:Gzf1
|
UTSW |
2 |
148,532,787 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2000:Gzf1
|
UTSW |
2 |
148,526,531 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2211:Gzf1
|
UTSW |
2 |
148,526,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2251:Gzf1
|
UTSW |
2 |
148,525,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2252:Gzf1
|
UTSW |
2 |
148,525,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2253:Gzf1
|
UTSW |
2 |
148,525,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4233:Gzf1
|
UTSW |
2 |
148,528,453 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5551:Gzf1
|
UTSW |
2 |
148,526,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6050:Gzf1
|
UTSW |
2 |
148,526,158 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6891:Gzf1
|
UTSW |
2 |
148,526,689 (GRCm39) |
nonsense |
probably null |
|
|
R7457:Gzf1
|
UTSW |
2 |
148,532,002 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7735:Gzf1
|
UTSW |
2 |
148,530,083 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7839:Gzf1
|
UTSW |
2 |
148,525,815 (GRCm39) |
nonsense |
probably null |
|
|
R8168:Gzf1
|
UTSW |
2 |
148,526,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8225:Gzf1
|
UTSW |
2 |
148,532,764 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8432:Gzf1
|
UTSW |
2 |
148,532,115 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9081:Gzf1
|
UTSW |
2 |
148,525,317 (GRCm39) |
intron |
probably benign |
|
|
R9761:Gzf1
|
UTSW |
2 |
148,530,011 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation