Incidental Mutation 'R0713:Zfp512b'
ID |
63874 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp512b
|
Ensembl Gene |
ENSMUSG00000000823 |
Gene Name |
zinc finger protein 512B |
Synonyms |
LOC269401, Znf512b |
MMRRC Submission |
038896-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0713 (G1)
|
Quality Score |
145 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
181223925-181234572 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 181230093 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 515
(E515K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104417
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108789]
[ENSMUST00000128553]
[ENSMUST00000132714]
[ENSMUST00000153998]
[ENSMUST00000140103]
|
AlphaFold |
Q6PHP4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108789
AA Change: E515K
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000104417 Gene: ENSMUSG00000000823 AA Change: E515K
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
26 |
N/A |
INTRINSIC |
ZnF_C2H2
|
106 |
128 |
5.83e1 |
SMART |
ZnF_C2H2
|
141 |
164 |
3.89e-3 |
SMART |
internal_repeat_1
|
168 |
224 |
4.38e-14 |
PROSPERO |
internal_repeat_1
|
246 |
302 |
4.38e-14 |
PROSPERO |
ZnF_C2H2
|
487 |
511 |
5.68e1 |
SMART |
ZnF_C2H2
|
517 |
540 |
2.91e-2 |
SMART |
low complexity region
|
547 |
560 |
N/A |
INTRINSIC |
ZnF_C2H2
|
571 |
593 |
1.59e1 |
SMART |
ZnF_C2H2
|
607 |
630 |
4.4e-2 |
SMART |
Blast:ZnF_C2H2
|
727 |
756 |
8e-11 |
BLAST |
ZnF_C2H2
|
761 |
784 |
1.45e-2 |
SMART |
low complexity region
|
808 |
832 |
N/A |
INTRINSIC |
low complexity region
|
838 |
856 |
N/A |
INTRINSIC |
low complexity region
|
858 |
866 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000128553
AA Change: E525K
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000115601 Gene: ENSMUSG00000000823 AA Change: E525K
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
85 |
107 |
5.83e1 |
SMART |
low complexity region
|
111 |
124 |
N/A |
INTRINSIC |
low complexity region
|
130 |
140 |
N/A |
INTRINSIC |
ZnF_C2H2
|
151 |
174 |
3.89e-3 |
SMART |
internal_repeat_1
|
178 |
234 |
1.6e-14 |
PROSPERO |
internal_repeat_1
|
256 |
312 |
1.6e-14 |
PROSPERO |
ZnF_C2H2
|
497 |
521 |
5.68e1 |
SMART |
ZnF_C2H2
|
527 |
550 |
2.91e-2 |
SMART |
low complexity region
|
557 |
570 |
N/A |
INTRINSIC |
ZnF_C2H2
|
581 |
603 |
1.59e1 |
SMART |
ZnF_C2H2
|
617 |
640 |
4.4e-2 |
SMART |
internal_repeat_2
|
723 |
761 |
4.94e-7 |
PROSPERO |
ZnF_C2H2
|
771 |
794 |
1.45e-2 |
SMART |
low complexity region
|
818 |
842 |
N/A |
INTRINSIC |
low complexity region
|
848 |
866 |
N/A |
INTRINSIC |
low complexity region
|
868 |
876 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131866
|
Predicted Effect |
unknown
Transcript: ENSMUST00000132538
AA Change: E73K
|
SMART Domains |
Protein: ENSMUSP00000119677 Gene: ENSMUSG00000000823 AA Change: E73K
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
46 |
70 |
5.68e1 |
SMART |
ZnF_C2H2
|
76 |
99 |
2.91e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132714
|
SMART Domains |
Protein: ENSMUSP00000117711 Gene: ENSMUSG00000002455
Domain | Start | End | E-Value | Type |
Pfam:PRP1_N
|
1 |
54 |
6e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133598
|
SMART Domains |
Protein: ENSMUSP00000114378 Gene: ENSMUSG00000000823
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
26 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135561
|
SMART Domains |
Protein: ENSMUSP00000121721 Gene: ENSMUSG00000000823
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
12 |
35 |
1.45e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136759
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150552
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183624
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152365
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155947
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144856
|
SMART Domains |
Protein: ENSMUSP00000114982 Gene: ENSMUSG00000089917
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
12 |
N/A |
INTRINSIC |
Pfam:CPT
|
83 |
211 |
2.7e-10 |
PFAM |
Pfam:PRK
|
85 |
253 |
7.7e-56 |
PFAM |
Pfam:AAA_17
|
86 |
240 |
2.5e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153998
|
SMART Domains |
Protein: ENSMUSP00000123096 Gene: ENSMUSG00000000823
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
26 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140103
|
SMART Domains |
Protein: ENSMUSP00000123579 Gene: ENSMUSG00000000823
Domain | Start | End | E-Value | Type |
Blast:ZnF_C2H2
|
2 |
24 |
8e-7 |
BLAST |
ZnF_C2H2
|
29 |
52 |
1.45e-2 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 6 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cd177 |
T |
C |
7: 24,443,855 (GRCm39) |
I748V |
probably benign |
Het |
Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
Fnbp1 |
A |
G |
2: 30,926,606 (GRCm39) |
Y433H |
probably damaging |
Het |
Psg28 |
A |
G |
7: 18,156,999 (GRCm39) |
I412T |
possibly damaging |
Het |
Ssb |
A |
G |
2: 69,697,703 (GRCm39) |
T145A |
probably benign |
Het |
Stx18 |
T |
A |
5: 38,264,015 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Zfp512b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00492:Zfp512b
|
APN |
2 |
181,228,862 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00667:Zfp512b
|
APN |
2 |
181,231,526 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL00763:Zfp512b
|
APN |
2 |
181,231,944 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01448:Zfp512b
|
APN |
2 |
181,229,578 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL01788:Zfp512b
|
APN |
2 |
181,230,556 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02048:Zfp512b
|
APN |
2 |
181,231,715 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02752:Zfp512b
|
APN |
2 |
181,229,864 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL03238:Zfp512b
|
APN |
2 |
181,231,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R0421:Zfp512b
|
UTSW |
2 |
181,230,051 (GRCm39) |
nonsense |
probably null |
|
R0507:Zfp512b
|
UTSW |
2 |
181,226,757 (GRCm39) |
unclassified |
probably benign |
|
R1074:Zfp512b
|
UTSW |
2 |
181,230,972 (GRCm39) |
missense |
probably damaging |
0.96 |
R1513:Zfp512b
|
UTSW |
2 |
181,230,982 (GRCm39) |
missense |
probably benign |
0.00 |
R1560:Zfp512b
|
UTSW |
2 |
181,230,472 (GRCm39) |
missense |
probably benign |
0.00 |
R1595:Zfp512b
|
UTSW |
2 |
181,230,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R1673:Zfp512b
|
UTSW |
2 |
181,230,286 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1845:Zfp512b
|
UTSW |
2 |
181,227,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Zfp512b
|
UTSW |
2 |
181,230,235 (GRCm39) |
missense |
probably damaging |
0.99 |
R1888:Zfp512b
|
UTSW |
2 |
181,230,235 (GRCm39) |
missense |
probably damaging |
0.99 |
R1943:Zfp512b
|
UTSW |
2 |
181,230,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R1975:Zfp512b
|
UTSW |
2 |
181,228,878 (GRCm39) |
nonsense |
probably null |
|
R2520:Zfp512b
|
UTSW |
2 |
181,231,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R3876:Zfp512b
|
UTSW |
2 |
181,230,556 (GRCm39) |
frame shift |
probably null |
|
R3877:Zfp512b
|
UTSW |
2 |
181,230,556 (GRCm39) |
frame shift |
probably null |
|
R4171:Zfp512b
|
UTSW |
2 |
181,232,391 (GRCm39) |
splice site |
probably null |
|
R4607:Zfp512b
|
UTSW |
2 |
181,230,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R4732:Zfp512b
|
UTSW |
2 |
181,230,532 (GRCm39) |
missense |
probably benign |
|
R4733:Zfp512b
|
UTSW |
2 |
181,230,532 (GRCm39) |
missense |
probably benign |
|
R4766:Zfp512b
|
UTSW |
2 |
181,226,888 (GRCm39) |
unclassified |
probably benign |
|
R4888:Zfp512b
|
UTSW |
2 |
181,228,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R4965:Zfp512b
|
UTSW |
2 |
181,228,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R5632:Zfp512b
|
UTSW |
2 |
181,227,461 (GRCm39) |
missense |
probably benign |
0.27 |
R6897:Zfp512b
|
UTSW |
2 |
181,232,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R6970:Zfp512b
|
UTSW |
2 |
181,228,141 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7432:Zfp512b
|
UTSW |
2 |
181,231,649 (GRCm39) |
missense |
probably benign |
|
R7560:Zfp512b
|
UTSW |
2 |
181,228,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R7935:Zfp512b
|
UTSW |
2 |
181,231,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R8045:Zfp512b
|
UTSW |
2 |
181,226,617 (GRCm39) |
makesense |
probably null |
|
R8321:Zfp512b
|
UTSW |
2 |
181,228,931 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8821:Zfp512b
|
UTSW |
2 |
181,228,525 (GRCm39) |
missense |
probably benign |
0.01 |
R8913:Zfp512b
|
UTSW |
2 |
181,227,282 (GRCm39) |
missense |
|
|
R9010:Zfp512b
|
UTSW |
2 |
181,230,011 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGCCATAGATCCAAAATCAGGCATAG -3'
(R):5'- TTCATCGCTCCAAGAAGCAAGAGG -3'
Sequencing Primer
(F):5'- TCCAAAATCAGGCATAGAGGAGC -3'
(R):5'- TCCTGTAGCAAAGGCATCG -3'
|
Posted On |
2013-07-30 |