Incidental Mutation 'R5549:Zfp513'
| ID |
435029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp513
|
| Ensembl Gene |
ENSMUSG00000043059 |
| Gene Name |
zinc finger protein 513 |
| Synonyms |
D430028M17Rik |
| MMRRC Submission |
043106-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R5549 (G1)
|
| Quality Score |
108 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
31356325-31359647 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 31357947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 144
(L144Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031029]
[ENSMUST00000031032]
[ENSMUST00000031562]
[ENSMUST00000114590]
[ENSMUST00000200730]
[ENSMUST00000202124]
[ENSMUST00000202294]
[ENSMUST00000201968]
[ENSMUST00000201231]
[ENSMUST00000201407]
[ENSMUST00000201535]
[ENSMUST00000202929]
|
| AlphaFold |
Q6PD29 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031029
|
| SMART Domains |
Protein: ENSMUSP00000031029
Gene: ENSMUSG00000029146
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
1 |
105 |
3.42e-24 |
SMART |
|
B41
|
113 |
274 |
4.05e-2 |
SMART |
|
low complexity region
|
324 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
441 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031032
|
| SMART Domains |
Protein: ENSMUSP00000031032
Gene: ENSMUSG00000029147
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Cc
|
15 |
500 |
9.7e-103 |
SMART |
|
PP2C_SIG
|
219 |
502 |
1.05e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031562
AA Change: L142Q
PolyPhen 2
Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000031562
Gene: ENSMUSG00000043059
AA Change: L142Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
144 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
148 |
170 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
176 |
198 |
2.86e-1 |
SMART |
|
ZnF_C2H2
|
204 |
226 |
1.06e-4 |
SMART |
|
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
354 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
358 |
380 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
414 |
436 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
5.06e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114590
AA Change: L144Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110238
Gene: ENSMUSG00000043059
AA Change: L144Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
119 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
146 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
150 |
172 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
178 |
200 |
2.86e-1 |
SMART |
|
ZnF_C2H2
|
206 |
228 |
1.06e-4 |
SMART |
|
low complexity region
|
229 |
240 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
356 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
360 |
382 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
388 |
410 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
416 |
438 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
444 |
466 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
472 |
494 |
5.06e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200730
|
| SMART Domains |
Protein: ENSMUSP00000144504
Gene: ENSMUSG00000029146
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
1 |
87 |
2.3e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200778
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200992
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202402
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202032
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202323
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201078
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202318
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201835
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201119
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202124
|
| SMART Domains |
Protein: ENSMUSP00000144168
Gene: ENSMUSG00000029146
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PX
|
1 |
31 |
6e-8 |
BLAST |
|
PDB:3LUI|C
|
1 |
31 |
4e-9 |
PDB |
|
low complexity region
|
41 |
54 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202294
|
| SMART Domains |
Protein: ENSMUSP00000144644
Gene: ENSMUSG00000029147
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Cc
|
15 |
393 |
6.6e-105 |
SMART |
|
PP2C_SIG
|
38 |
395 |
3.7e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201968
|
| SMART Domains |
Protein: ENSMUSP00000144517
Gene: ENSMUSG00000043059
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
80 |
92 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201231
|
| SMART Domains |
Protein: ENSMUSP00000144172
Gene: ENSMUSG00000043059
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
55 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201407
|
| SMART Domains |
Protein: ENSMUSP00000144556
Gene: ENSMUSG00000029147
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PP2Cc
|
1 |
155 |
4e-87 |
BLAST |
|
low complexity region
|
156 |
173 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201535
|
| SMART Domains |
Protein: ENSMUSP00000144643
Gene: ENSMUSG00000029146
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PX
|
1 |
23 |
3e-7 |
BLAST |
|
PDB:3LUI|C
|
1 |
23 |
3e-8 |
PDB |
|
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
|
Blast:B41
|
36 |
169 |
5e-92 |
BLAST |
|
PDB:4GXB|A
|
36 |
169 |
4e-90 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202743
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202929
|
| SMART Domains |
Protein: ENSMUSP00000143817
Gene: ENSMUSG00000043059
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
67 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a possible transcriptional regulator involved in retinal development. Defects in this gene can be a cause of autosomal-recessive retinitis pigmentosa. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,384,993 (GRCm39) |
E324G |
possibly damaging |
Het |
| Acad8 |
C |
T |
9: 26,896,847 (GRCm39) |
R204Q |
probably damaging |
Het |
| Adgrg7 |
T |
G |
16: 56,570,790 (GRCm39) |
T413P |
probably damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,617,117 (GRCm39) |
I2224T |
probably benign |
Het |
| Arhgap23 |
A |
G |
11: 97,357,394 (GRCm39) |
D964G |
probably damaging |
Het |
| Atf6b |
A |
G |
17: 34,870,657 (GRCm39) |
D367G |
probably damaging |
Het |
| Axdnd1 |
A |
G |
1: 156,226,104 (GRCm39) |
L131P |
probably damaging |
Het |
| Bmp8b |
T |
C |
4: 123,018,278 (GRCm39) |
V383A |
probably damaging |
Het |
| C5ar2 |
A |
G |
7: 15,970,868 (GRCm39) |
V353A |
probably damaging |
Het |
| Ccr5 |
C |
A |
9: 123,925,408 (GRCm39) |
A337E |
probably benign |
Het |
| Cftr |
G |
A |
6: 18,227,953 (GRCm39) |
V382I |
probably benign |
Het |
| Csmd3 |
G |
C |
15: 48,048,753 (GRCm39) |
S446C |
probably damaging |
Het |
| Cyp2d12 |
A |
G |
15: 82,440,498 (GRCm39) |
T96A |
probably benign |
Het |
| Diaph3 |
T |
G |
14: 87,216,106 (GRCm39) |
I465L |
probably benign |
Het |
| Fabp3 |
A |
G |
4: 130,209,018 (GRCm39) |
*134W |
probably null |
Het |
| Fgf22 |
G |
T |
10: 79,592,696 (GRCm39) |
M130I |
probably damaging |
Het |
| Flnc |
G |
A |
6: 29,453,690 (GRCm39) |
V1792M |
probably damaging |
Het |
| Grik3 |
G |
A |
4: 125,579,838 (GRCm39) |
A528T |
possibly damaging |
Het |
| Hecw2 |
G |
A |
1: 53,964,850 (GRCm39) |
R659W |
possibly damaging |
Het |
| Hmbs |
C |
T |
9: 44,250,774 (GRCm39) |
|
probably null |
Het |
| Ift122 |
T |
G |
6: 115,868,983 (GRCm39) |
L490R |
probably damaging |
Het |
| Igkv4-63 |
T |
C |
6: 69,355,116 (GRCm39) |
H55R |
probably damaging |
Het |
| Itga4 |
A |
T |
2: 79,086,611 (GRCm39) |
N96I |
probably damaging |
Het |
| Kcna7 |
A |
T |
7: 45,056,063 (GRCm39) |
H93L |
probably damaging |
Het |
| Klhdc7b |
A |
G |
15: 89,271,562 (GRCm39) |
I815V |
probably benign |
Het |
| Lcmt1 |
G |
A |
7: 123,027,330 (GRCm39) |
E298K |
probably damaging |
Het |
| Ly6g6f |
A |
G |
17: 35,302,333 (GRCm39) |
V68A |
possibly damaging |
Het |
| Map3k8 |
C |
T |
18: 4,340,762 (GRCm39) |
C184Y |
probably damaging |
Het |
| Mcemp1 |
A |
G |
8: 3,718,340 (GRCm39) |
T183A |
possibly damaging |
Het |
| Mobp |
T |
G |
9: 119,996,876 (GRCm39) |
S2R |
probably damaging |
Het |
| Mprip |
A |
G |
11: 59,651,644 (GRCm39) |
S1783G |
probably benign |
Het |
| Mterf3 |
C |
A |
13: 67,076,321 (GRCm39) |
A129S |
probably benign |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Nr2c1 |
A |
G |
10: 94,003,558 (GRCm39) |
T239A |
probably benign |
Het |
| Odr4 |
A |
G |
1: 150,247,909 (GRCm39) |
S325P |
possibly damaging |
Het |
| Oplah |
G |
A |
15: 76,182,466 (GRCm39) |
A963V |
probably damaging |
Het |
| Or13a26 |
A |
G |
7: 140,284,712 (GRCm39) |
|
probably null |
Het |
| Parp14 |
C |
T |
16: 35,661,505 (GRCm39) |
S1481N |
probably benign |
Het |
| Prxl2a |
T |
C |
14: 40,726,013 (GRCm39) |
K44E |
possibly damaging |
Het |
| Rictor |
C |
T |
15: 6,816,391 (GRCm39) |
T1221M |
probably damaging |
Het |
| Rpe |
G |
A |
1: 66,755,163 (GRCm39) |
D182N |
probably damaging |
Het |
| Slc24a3 |
C |
A |
2: 145,448,784 (GRCm39) |
P443T |
probably damaging |
Het |
| Slc25a47 |
T |
C |
12: 108,822,143 (GRCm39) |
*311Q |
probably null |
Het |
| Sox2 |
C |
G |
3: 34,705,142 (GRCm39) |
A193G |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,057,954 (GRCm39) |
S3284G |
probably benign |
Het |
| Zfp369 |
A |
T |
13: 65,445,194 (GRCm39) |
H779L |
probably damaging |
Het |
| Zfp526 |
T |
C |
7: 24,925,109 (GRCm39) |
F456S |
possibly damaging |
Het |
| Zfp791 |
C |
T |
8: 85,836,835 (GRCm39) |
G343D |
probably damaging |
Het |
| Zfp941 |
A |
C |
7: 140,388,021 (GRCm39) |
I664S |
possibly damaging |
Het |
| Zkscan3 |
A |
G |
13: 21,578,233 (GRCm39) |
V189A |
probably damaging |
Het |
|
| Other mutations in Zfp513 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1791:Zfp513
|
UTSW |
5 |
31,357,678 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1872:Zfp513
|
UTSW |
5 |
31,357,767 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1879:Zfp513
|
UTSW |
5 |
31,357,767 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2156:Zfp513
|
UTSW |
5 |
31,357,866 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2206:Zfp513
|
UTSW |
5 |
31,357,767 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2207:Zfp513
|
UTSW |
5 |
31,357,767 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3027:Zfp513
|
UTSW |
5 |
31,356,673 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5704:Zfp513
|
UTSW |
5 |
31,358,010 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7163:Zfp513
|
UTSW |
5 |
31,358,076 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7357:Zfp513
|
UTSW |
5 |
31,357,132 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7456:Zfp513
|
UTSW |
5 |
31,357,759 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7909:Zfp513
|
UTSW |
5 |
31,357,906 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8958:Zfp513
|
UTSW |
5 |
31,356,825 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9425:Zfp513
|
UTSW |
5 |
31,357,695 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGCACAGCATCGAAAGC -3'
(R):5'- ACTTCCCTATGGGCTGAGTG -3'
Sequencing Primer
(F):5'- CAGCATCGAAAGCCACAGGTTG -3'
(R):5'- CTATGGGCTGAGTGACGAC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation