Incidental Mutation 'R1074:Zfp512b'
| ID |
85557 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp512b
|
| Ensembl Gene |
ENSMUSG00000000823 |
| Gene Name |
zinc finger protein 512B |
| Synonyms |
LOC269401, Znf512b |
| MMRRC Submission |
039160-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1074 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
181223925-181234572 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 181230972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 374
(S374R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115601
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108789]
[ENSMUST00000128553]
[ENSMUST00000132714]
[ENSMUST00000140103]
[ENSMUST00000153998]
|
| AlphaFold |
Q6PHP4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108789
AA Change: S364R
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104417
Gene: ENSMUSG00000000823
AA Change: S364R
| 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 |
probably damaging
Transcript: ENSMUST00000128553
AA Change: S374R
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115601
Gene: ENSMUSG00000000823
AA Change: S374R
| 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 |
probably benign
Transcript: ENSMUST00000132538
|
| SMART Domains |
Protein: ENSMUSP00000119677
Gene: ENSMUSG00000000823
| 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: ENSMUST00000183624
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136759
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150552
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155947
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152365
|
| 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: 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0963 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.9%
|
| Validation Efficiency |
97% (33/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,912,421 (GRCm39) |
S98P |
probably damaging |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Acbd3 |
C |
T |
1: 180,566,113 (GRCm39) |
Q269* |
probably null |
Het |
| Ankrd6 |
T |
C |
4: 32,822,232 (GRCm39) |
H179R |
probably damaging |
Het |
| Ano1 |
T |
A |
7: 144,165,417 (GRCm39) |
N603Y |
probably damaging |
Het |
| Catsperg1 |
T |
C |
7: 28,906,274 (GRCm39) |
E143G |
probably damaging |
Het |
| Epha5 |
G |
T |
5: 84,298,254 (GRCm39) |
A383E |
probably damaging |
Het |
| Epha5 |
C |
T |
5: 84,298,255 (GRCm39) |
A383T |
probably damaging |
Het |
| Epn1 |
T |
C |
7: 5,098,047 (GRCm39) |
V286A |
probably benign |
Het |
| Fam117b |
C |
T |
1: 59,997,485 (GRCm39) |
A279V |
possibly damaging |
Het |
| Impg2 |
G |
A |
16: 56,085,541 (GRCm39) |
|
probably benign |
Het |
| Man1a2 |
C |
T |
3: 100,563,402 (GRCm39) |
R81H |
possibly damaging |
Het |
| Medag |
G |
T |
5: 149,335,674 (GRCm39) |
V78L |
probably benign |
Het |
| Meioc |
C |
T |
11: 102,566,219 (GRCm39) |
H612Y |
probably damaging |
Het |
| Nab2 |
G |
A |
10: 127,499,124 (GRCm39) |
Q385* |
probably null |
Het |
| Ncor1 |
A |
G |
11: 62,283,377 (GRCm39) |
F437L |
probably damaging |
Het |
| Or10p1 |
T |
C |
10: 129,444,335 (GRCm39) |
N5S |
probably damaging |
Het |
| Or2n1 |
T |
C |
17: 38,486,331 (GRCm39) |
S119P |
probably damaging |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Pcdhga1 |
A |
G |
18: 37,958,140 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
G |
A |
7: 115,950,160 (GRCm39) |
R1286* |
probably null |
Het |
| Pira13 |
T |
C |
7: 3,826,069 (GRCm39) |
D308G |
probably damaging |
Het |
| Plk3 |
T |
C |
4: 116,988,955 (GRCm39) |
E268G |
probably damaging |
Het |
| Pzp |
T |
A |
6: 128,464,887 (GRCm39) |
N1329I |
probably benign |
Het |
| Reps1 |
A |
G |
10: 17,970,194 (GRCm39) |
T264A |
probably benign |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Spata31e2 |
T |
C |
1: 26,722,307 (GRCm39) |
K958E |
probably benign |
Het |
| Srarp |
T |
A |
4: 141,160,707 (GRCm39) |
D42V |
probably damaging |
Het |
| Srbd1 |
T |
A |
17: 86,311,380 (GRCm39) |
H679L |
probably damaging |
Het |
| Tbc1d2b |
G |
A |
9: 90,104,393 (GRCm39) |
P583L |
possibly damaging |
Het |
| Vmn2r22 |
T |
C |
6: 123,626,217 (GRCm39) |
D73G |
probably benign |
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 |
|
|
R0713:Zfp512b
|
UTSW |
2 |
181,230,093 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
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'- AGCCCAAAGGTCCCTGAGATAGATG -3'
(R):5'- ACACTTCGTGCTACAGGCAAGAAC -3'
Sequencing Primer
(F):5'- CCCTGAGATAGATGGTTGCTCC -3'
(R):5'- AAGGTATGGGAGGTCATTTGAG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation