Incidental Mutation 'R3857:Zfp512'
| ID |
276206 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp512
|
| Ensembl Gene |
ENSMUSG00000062761 |
| Gene Name |
zinc finger protein 512 |
| Synonyms |
2500002M11Rik |
| MMRRC Submission |
040785-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.237)
|
| Stock # |
R3857 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31609775-31639098 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 31630184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 222
(R222L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076264]
[ENSMUST00000200782]
[ENSMUST00000201450]
[ENSMUST00000202244]
|
| AlphaFold |
Q69Z99 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076264
AA Change: R339L
PolyPhen 2
Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000075613
Gene: ENSMUSG00000062761
AA Change: R339L
| 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 damaging
Transcript: ENSMUST00000200782
AA Change: R222L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143874
Gene: ENSMUSG00000062761
AA Change: R222L
| 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 |
possibly damaging
Transcript: ENSMUST00000201450
AA Change: R185L
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144433
Gene: ENSMUSG00000062761
AA Change: R185L
| 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 |
possibly damaging
Transcript: ENSMUST00000202244
AA Change: R283L
PolyPhen 2
Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000143860
Gene: ENSMUSG00000062761
AA Change: R283L
| 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 |
|
| Meta Mutation Damage Score |
0.2947 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 92.4%
|
| Validation Efficiency |
98% (41/42) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bdkrb2 |
T |
C |
12: 105,558,698 (GRCm39) |
V313A |
probably benign |
Het |
| Ccng1 |
A |
G |
11: 40,644,660 (GRCm39) |
L79P |
probably damaging |
Het |
| Celf1 |
A |
G |
2: 90,843,086 (GRCm39) |
E411G |
probably damaging |
Het |
| Cps1 |
A |
G |
1: 67,207,437 (GRCm39) |
Y582C |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,882,396 (GRCm39) |
D656G |
probably damaging |
Het |
| Eif1ad17 |
T |
A |
12: 87,979,016 (GRCm39) |
D133E |
unknown |
Het |
| Erc2 |
A |
G |
14: 28,197,599 (GRCm39) |
|
probably benign |
Het |
| Ercc8 |
A |
G |
13: 108,330,648 (GRCm39) |
E395G |
possibly damaging |
Het |
| Ezhip |
A |
G |
X: 5,994,710 (GRCm39) |
S102P |
possibly damaging |
Het |
| F13a1 |
A |
G |
13: 37,209,668 (GRCm39) |
L99P |
probably benign |
Het |
| Fzd3 |
A |
T |
14: 65,477,288 (GRCm39) |
C89S |
possibly damaging |
Het |
| Gse1 |
T |
A |
8: 121,297,872 (GRCm39) |
|
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hs3st1 |
G |
A |
5: 39,772,256 (GRCm39) |
T129I |
probably damaging |
Het |
| Irx1 |
A |
T |
13: 72,111,577 (GRCm39) |
Y11N |
possibly damaging |
Het |
| Kdm3b |
T |
A |
18: 34,966,440 (GRCm39) |
I1658N |
probably benign |
Het |
| Mtmr4 |
G |
A |
11: 87,488,088 (GRCm39) |
V24M |
probably damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,708,490 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
G |
11: 58,971,795 (GRCm39) |
|
probably benign |
Het |
| Pcna |
A |
T |
2: 132,091,541 (GRCm39) |
S261T |
probably benign |
Het |
| Pigr |
T |
C |
1: 130,774,998 (GRCm39) |
V475A |
probably benign |
Het |
| Pitpnc1 |
T |
C |
11: 107,211,631 (GRCm39) |
|
probably null |
Het |
| Psph |
A |
G |
5: 129,848,540 (GRCm39) |
M47T |
probably damaging |
Het |
| Pth2r |
A |
T |
1: 65,361,206 (GRCm39) |
I52F |
probably damaging |
Het |
| Rtn4rl2 |
A |
G |
2: 84,710,730 (GRCm39) |
|
probably null |
Het |
| Senp6 |
A |
G |
9: 79,999,603 (GRCm39) |
T7A |
possibly damaging |
Het |
| Slc4a1 |
A |
T |
11: 102,247,947 (GRCm39) |
V349E |
probably benign |
Het |
| Spice1 |
T |
C |
16: 44,175,806 (GRCm39) |
S2P |
probably damaging |
Het |
| Spty2d1 |
G |
A |
7: 46,648,044 (GRCm39) |
T295I |
probably benign |
Het |
| Thsd7a |
C |
T |
6: 12,555,225 (GRCm39) |
G220S |
probably benign |
Het |
| Togaram1 |
A |
G |
12: 65,027,633 (GRCm39) |
Q874R |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,739,319 (GRCm39) |
D3740V |
probably benign |
Het |
| Unc13c |
G |
T |
9: 73,606,390 (GRCm39) |
Y1323* |
probably null |
Het |
| Vmn1r19 |
A |
T |
6: 57,382,098 (GRCm39) |
Y217F |
possibly damaging |
Het |
| Zfp101 |
G |
T |
17: 33,601,405 (GRCm39) |
S79* |
probably null |
Het |
| Zfyve16 |
A |
T |
13: 92,631,479 (GRCm39) |
I1372N |
probably damaging |
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 |
|
R2982:Zfp512
|
UTSW |
5 |
31,634,122 (GRCm39) |
splice site |
probably null |
|
|
R3855:Zfp512
|
UTSW |
5 |
31,637,593 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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'- CGGCTTACCCTCATATGTGG -3'
(R):5'- CCATACTGGGAAGCATTCTACAC -3'
Sequencing Primer
(F):5'- GTAGCATACATACCTGTGAGCATGC -3'
(R):5'- GGGAAGCATTCTACACAATGATTAC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation