Incidental Mutation 'R1131:Gzf1'
| ID |
94586 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gzf1
|
| Ensembl Gene |
ENSMUSG00000027439 |
| Gene Name |
GDNF-inducible zinc finger protein 1 |
| Synonyms |
Zfp336, 8430437G08Rik |
| MMRRC Submission |
039204-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.500)
|
| Stock # |
R1131 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
148522943-148534869 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 148532787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 647
(N647S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028926]
[ENSMUST00000028928]
[ENSMUST00000136513]
|
| AlphaFold |
Q4VBD9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028926
|
| SMART Domains |
Protein: ENSMUSP00000028926
Gene: ENSMUSG00000027438
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNAP
|
8 |
288 |
7.3e-113 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028928
AA Change: N647S
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000028928
Gene: ENSMUSG00000027439
AA Change: N647S
| 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 benign
Transcript: ENSMUST00000136513
|
| SMART Domains |
Protein: ENSMUSP00000120979
Gene: ENSMUSG00000027438
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNAP
|
8 |
114 |
3.5e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151362
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(5) : Gene trapped(5)
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
G |
T |
3: 146,356,837 (GRCm39) |
H24N |
probably damaging |
Het |
| Ano7 |
T |
C |
1: 93,329,498 (GRCm39) |
F723L |
probably benign |
Het |
| Clec9a |
T |
G |
6: 129,387,278 (GRCm39) |
C44W |
probably damaging |
Het |
| Commd7 |
T |
A |
2: 153,464,047 (GRCm39) |
Q44L |
probably benign |
Het |
| Ddias |
A |
T |
7: 92,509,094 (GRCm39) |
S274T |
possibly damaging |
Het |
| Fnip1 |
A |
T |
11: 54,384,129 (GRCm39) |
E342V |
possibly damaging |
Het |
| Gata4 |
A |
G |
14: 63,442,189 (GRCm39) |
F210S |
possibly damaging |
Het |
| Ggt6 |
A |
G |
11: 72,326,506 (GRCm39) |
E21G |
possibly damaging |
Het |
| Hnrnpk |
T |
C |
13: 58,541,979 (GRCm39) |
|
probably null |
Het |
| Lgr6 |
G |
A |
1: 134,915,042 (GRCm39) |
R569W |
probably damaging |
Het |
| Mug1 |
T |
A |
6: 121,838,144 (GRCm39) |
I458N |
probably benign |
Het |
| Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
| Or51a25 |
C |
A |
7: 102,372,887 (GRCm39) |
R270L |
probably damaging |
Het |
| Spta1 |
T |
A |
1: 174,013,213 (GRCm39) |
S375T |
probably damaging |
Het |
| Tanc2 |
G |
A |
11: 105,725,828 (GRCm39) |
E331K |
probably damaging |
Het |
| Tcirg1 |
A |
G |
19: 3,946,301 (GRCm39) |
S799P |
probably damaging |
Het |
| Tnrc18 |
T |
A |
5: 142,772,963 (GRCm39) |
D439V |
unknown |
Het |
| Tnrc6b |
A |
T |
15: 80,778,654 (GRCm39) |
Q1209L |
possibly damaging |
Het |
| Trim24 |
T |
A |
6: 37,934,717 (GRCm39) |
C811S |
probably damaging |
Het |
| Ttc7b |
A |
T |
12: 100,348,378 (GRCm39) |
|
probably null |
Het |
| Vmn1r42 |
A |
T |
6: 89,822,551 (GRCm39) |
F6Y |
possibly 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 |
|
IGL03391:Gzf1
|
APN |
2 |
148,525,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACGCCGTGGAAGTCTTTCCTTG -3'
(R):5'- TGCACAGACAACTTTTCCTCAGCC -3'
Sequencing Primer
(F):5'- TGTCATTGTAGATGGCTCACC -3'
(R):5'- GCAATTACACAGACTGCTTGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation