Incidental Mutation 'R6078:Zfp1'
| ID |
482839 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp1
|
| Ensembl Gene |
ENSMUSG00000055835 |
| Gene Name |
zinc finger protein 1 |
| Synonyms |
mkr-1, Fnp-1, Zfp-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R6078 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
112370033-112397643 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112396975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 299
(F299S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148511
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077791]
[ENSMUST00000211926]
[ENSMUST00000212072]
[ENSMUST00000212206]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077791
AA Change: F332S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000076964
Gene: ENSMUSG00000055835
AA Change: F332S
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
71 |
8.91e-21 |
SMART |
|
ZnF_C2H2
|
183 |
205 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
211 |
233 |
9.22e-5 |
SMART |
|
ZnF_C2H2
|
239 |
261 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
267 |
289 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
295 |
317 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
323 |
345 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
351 |
373 |
2.65e-5 |
SMART |
|
ZnF_C2H2
|
379 |
401 |
8.47e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211926
AA Change: F318S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212072
AA Change: F299S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212206
|
| Meta Mutation Damage Score |
0.8015 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the zinc finger protein family. Some members of this family bind to DNA by zinc-mediated secondary structures called zinc fingers, and are involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Abcc8 |
T |
C |
7: 45,755,268 (GRCm39) |
M1511V |
probably benign |
Het |
| Abcc9 |
A |
G |
6: 142,585,301 (GRCm39) |
F801S |
probably damaging |
Het |
| Adam39 |
C |
T |
8: 41,277,630 (GRCm39) |
A7V |
probably benign |
Het |
| Adgra2 |
G |
A |
8: 27,604,457 (GRCm39) |
A511T |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,117,924 (GRCm39) |
|
probably null |
Het |
| Atp2b4 |
TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT |
TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT |
1: 133,629,440 (GRCm39) |
|
probably benign |
Het |
| Cbfa2t3 |
T |
C |
8: 123,370,236 (GRCm39) |
H53R |
probably benign |
Het |
| Edc4 |
C |
T |
8: 106,614,180 (GRCm39) |
R19C |
probably benign |
Het |
| Fam90a1b |
T |
C |
X: 93,400,191 (GRCm39) |
N213S |
probably benign |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Insm2 |
T |
C |
12: 55,646,799 (GRCm39) |
I181T |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Muc4 |
T |
A |
16: 32,575,621 (GRCm39) |
|
probably benign |
Het |
| Nop14 |
T |
C |
5: 34,815,295 (GRCm39) |
D85G |
probably damaging |
Het |
| Pramel27 |
T |
G |
4: 143,578,155 (GRCm39) |
H87Q |
possibly damaging |
Het |
| Rad23b |
C |
T |
4: 55,370,400 (GRCm39) |
A142V |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Tfe3 |
T |
C |
X: 7,637,288 (GRCm39) |
L231P |
probably damaging |
Het |
| Vmn1r29 |
T |
C |
6: 58,285,080 (GRCm39) |
F267L |
probably benign |
Het |
| Vmn2r79 |
T |
A |
7: 86,653,319 (GRCm39) |
V528D |
possibly damaging |
Het |
|
| Other mutations in Zfp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00732:Zfp1
|
APN |
8 |
112,397,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0402:Zfp1
|
UTSW |
8 |
112,396,875 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4381:Zfp1
|
UTSW |
8 |
112,397,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4478:Zfp1
|
UTSW |
8 |
112,397,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4894:Zfp1
|
UTSW |
8 |
112,396,355 (GRCm39) |
nonsense |
probably null |
|
|
R6067:Zfp1
|
UTSW |
8 |
112,396,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6723:Zfp1
|
UTSW |
8 |
112,396,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7711:Zfp1
|
UTSW |
8 |
112,396,794 (GRCm39) |
missense |
not run |
|
|
R9767:Zfp1
|
UTSW |
8 |
112,396,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
U15987:Zfp1
|
UTSW |
8 |
112,396,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Zfp1
|
UTSW |
8 |
112,396,744 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGACATTCGCTCAGAAGTTTGAAC -3'
(R):5'- TCAGGACTATGCCATGTGAAC -3'
Sequencing Primer
(F):5'- ATTCGCTCAGAAGTTTGAACTCACC -3'
(R):5'- ATGCCATGTGAACCCTCTGG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation