Incidental Mutation 'R2982:Zfp512'
| ID |
257097 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp512
|
| Ensembl Gene |
ENSMUSG00000062761 |
| Gene Name |
zinc finger protein 512 |
| Synonyms |
2500002M11Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.291)
|
| Stock # |
R2982 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
31609775-31639098 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 31634122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143860
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076264]
[ENSMUST00000200782]
[ENSMUST00000201450]
[ENSMUST00000202244]
|
| AlphaFold |
Q69Z99 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000076264
|
| SMART Domains |
Protein: ENSMUSP00000075613
Gene: ENSMUSG00000062761
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
106 |
N/A |
INTRINSIC |
|
Blast:ZnF_C2H2
|
172 |
197 |
2e-8 |
BLAST |
|
ZnF_C2H2
|
200 |
223 |
3.78e-1 |
SMART |
|
ZnF_C2H2
|
254 |
276 |
2.63e2 |
SMART |
|
ZnF_C2H2
|
290 |
313 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
408 |
430 |
7.37e1 |
SMART |
|
ZnF_C2H2
|
442 |
465 |
3.11e-2 |
SMART |
|
low complexity region
|
485 |
511 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200782
|
| SMART Domains |
Protein: ENSMUSP00000143874
Gene: ENSMUSG00000062761
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ZnF_C2H2
|
55 |
79 |
9e-9 |
BLAST |
|
ZnF_C2H2
|
83 |
106 |
1.6e-3 |
SMART |
|
ZnF_C2H2
|
137 |
159 |
1.1e0 |
SMART |
|
ZnF_C2H2
|
173 |
196 |
1.5e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201450
|
| SMART Domains |
Protein: ENSMUSP00000144433
Gene: ENSMUSG00000062761
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
46 |
69 |
1.6e-3 |
SMART |
|
ZnF_C2H2
|
100 |
122 |
1.1e0 |
SMART |
|
ZnF_C2H2
|
136 |
159 |
1.5e-5 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202244
|
| SMART Domains |
Protein: ENSMUSP00000143860
Gene: ENSMUSG00000062761
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
106 |
N/A |
INTRINSIC |
|
Blast:ZnF_C2H2
|
172 |
197 |
1e-8 |
BLAST |
|
ZnF_C2H2
|
200 |
223 |
1.6e-3 |
SMART |
|
ZnF_C2H2
|
352 |
374 |
3.2e-1 |
SMART |
|
ZnF_C2H2
|
386 |
409 |
1.4e-4 |
SMART |
|
low complexity region
|
429 |
455 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing four putative zinc finger motifs. Zinc finger motifs may bind to proteins or nucleic acids. Zinc finger-containing proteins are involved in a variety of processes, including regulation of transcription. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Sep 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fgfr1 |
T |
C |
8: 26,048,227 (GRCm39) |
F106L |
probably benign |
Het |
| Hpse2 |
T |
A |
19: 43,373,182 (GRCm39) |
D149V |
probably null |
Het |
| Hsd3b5 |
T |
A |
3: 98,527,116 (GRCm39) |
D110V |
possibly damaging |
Het |
| Klhl42 |
T |
C |
6: 146,993,114 (GRCm39) |
Y29H |
probably damaging |
Het |
| Klk1 |
G |
A |
7: 43,878,863 (GRCm39) |
C117Y |
probably damaging |
Het |
| Mfhas1 |
T |
C |
8: 36,058,269 (GRCm39) |
Y915H |
probably benign |
Het |
| Msantd2 |
A |
G |
9: 37,434,639 (GRCm39) |
Q293R |
probably damaging |
Het |
| Or1l4b |
G |
T |
2: 37,036,393 (GRCm39) |
M56I |
probably damaging |
Het |
| Or7a36 |
T |
C |
10: 78,820,274 (GRCm39) |
S217P |
probably damaging |
Het |
| Or9g20 |
T |
A |
2: 85,629,694 (GRCm39) |
I307F |
probably benign |
Het |
| Osgin1 |
T |
G |
8: 120,169,274 (GRCm39) |
L35R |
probably damaging |
Het |
| Rufy1 |
C |
T |
11: 50,310,535 (GRCm39) |
R210K |
possibly damaging |
Het |
| Spats2 |
T |
C |
15: 99,108,927 (GRCm39) |
S426P |
probably benign |
Het |
| Tnc |
T |
A |
4: 63,938,756 (GRCm39) |
I28F |
possibly damaging |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
|
| Other mutations in Zfp512 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01540:Zfp512
|
APN |
5 |
31,630,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02657:Zfp512
|
APN |
5 |
31,628,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4504001:Zfp512
|
UTSW |
5 |
31,634,225 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2054:Zfp512
|
UTSW |
5 |
31,622,793 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2228:Zfp512
|
UTSW |
5 |
31,622,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2679:Zfp512
|
UTSW |
5 |
31,622,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3855:Zfp512
|
UTSW |
5 |
31,637,593 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3857:Zfp512
|
UTSW |
5 |
31,630,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3858:Zfp512
|
UTSW |
5 |
31,630,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4603:Zfp512
|
UTSW |
5 |
31,637,570 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4827:Zfp512
|
UTSW |
5 |
31,630,158 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4915:Zfp512
|
UTSW |
5 |
31,634,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Zfp512
|
UTSW |
5 |
31,634,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5906:Zfp512
|
UTSW |
5 |
31,637,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6520:Zfp512
|
UTSW |
5 |
31,623,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7508:Zfp512
|
UTSW |
5 |
31,630,883 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8485:Zfp512
|
UTSW |
5 |
31,637,401 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8513:Zfp512
|
UTSW |
5 |
31,637,425 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8768:Zfp512
|
UTSW |
5 |
31,630,882 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8795:Zfp512
|
UTSW |
5 |
31,634,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9055:Zfp512
|
UTSW |
5 |
31,637,533 (GRCm39) |
nonsense |
probably null |
|
|
R9214:Zfp512
|
UTSW |
5 |
31,637,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9440:Zfp512
|
UTSW |
5 |
31,628,359 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9551:Zfp512
|
UTSW |
5 |
31,623,676 (GRCm39) |
missense |
probably benign |
|
|
R9552:Zfp512
|
UTSW |
5 |
31,623,676 (GRCm39) |
missense |
probably benign |
|
|
R9635:Zfp512
|
UTSW |
5 |
31,623,669 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTCAGGACATAGTGGAC -3'
(R):5'- CAGTCCTAGATCATGAAGCCAGG -3'
Sequencing Primer
(F):5'- AGGCATGACGGGCTGTGAC -3'
(R):5'- CCAGGGGCAAGGTCAACTCTTAG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation