Incidental Mutation 'IGL01540:Zfp512'
| ID |
90128 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01540
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31609775-31639098 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31630840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 338
(V338A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143860
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076264]
[ENSMUST00000200782]
[ENSMUST00000201450]
[ENSMUST00000202244]
|
| AlphaFold |
Q69Z99 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076264
AA Change: V394A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000075613
Gene: ENSMUSG00000062761
AA Change: V394A
| 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 damaging
Transcript: ENSMUST00000202244
AA Change: V338A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143860
Gene: ENSMUSG00000062761
AA Change: V338A
| 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 |
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
A |
G |
1: 25,151,252 (GRCm39) |
|
probably null |
Het |
| Ceacam12 |
T |
C |
7: 17,805,727 (GRCm39) |
|
probably benign |
Het |
| Cyp2j13 |
A |
T |
4: 95,956,959 (GRCm39) |
|
probably benign |
Het |
| Golim4 |
T |
G |
3: 75,794,047 (GRCm39) |
E538A |
possibly damaging |
Het |
| Gstcd |
A |
T |
3: 132,692,175 (GRCm39) |
V580D |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,247,017 (GRCm39) |
T1115A |
probably damaging |
Het |
| Maea |
T |
C |
5: 33,515,910 (GRCm39) |
S18P |
probably benign |
Het |
| Mertk |
T |
C |
2: 128,625,887 (GRCm39) |
L674P |
probably damaging |
Het |
| Nol8 |
A |
T |
13: 49,815,146 (GRCm39) |
Q400L |
probably benign |
Het |
| Nt5el |
T |
C |
13: 105,218,761 (GRCm39) |
S32P |
possibly damaging |
Het |
| Or10a3b |
G |
T |
7: 108,444,887 (GRCm39) |
T110N |
probably damaging |
Het |
| Or6b2 |
A |
G |
1: 92,408,202 (GRCm39) |
L47P |
probably damaging |
Het |
| Pycard |
T |
A |
7: 127,592,002 (GRCm39) |
D113V |
probably benign |
Het |
| S100z |
G |
A |
13: 95,613,861 (GRCm39) |
T83M |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,429,084 (GRCm39) |
D381G |
possibly damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,120,016 (GRCm39) |
H4331Q |
possibly damaging |
Het |
| Tbpl2 |
T |
C |
2: 23,984,985 (GRCm39) |
H53R |
probably benign |
Het |
| Tlr6 |
T |
C |
5: 65,112,629 (GRCm39) |
R93G |
probably damaging |
Het |
| Trabd |
A |
G |
15: 88,968,998 (GRCm39) |
E172G |
probably benign |
Het |
| Vrk3 |
A |
G |
7: 44,416,568 (GRCm39) |
H277R |
probably damaging |
Het |
|
| Other mutations in Zfp512 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-12-03 |
Incidental Mutation