Incidental Mutation 'R3877:Zfp512b'
| ID |
276890 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp512b
|
| Ensembl Gene |
ENSMUSG00000000823 |
| Gene Name |
zinc finger protein 512B |
| Synonyms |
LOC269401, Znf512b |
| MMRRC Submission |
040904-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3877 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
181223925-181234572 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
AG to AGG
at 181230556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115601
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108789]
[ENSMUST00000128553]
[ENSMUST00000132714]
[ENSMUST00000140103]
[ENSMUST00000153998]
|
| AlphaFold |
Q6PHP4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000108789
|
| SMART Domains |
Protein: ENSMUSP00000104417
Gene: ENSMUSG00000000823
| 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 null
Transcript: ENSMUST00000128553
|
| SMART Domains |
Protein: ENSMUSP00000115601
Gene: ENSMUSG00000000823
| 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: ENSMUST00000152365
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155947
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136759
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183624
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150552
|
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
G |
A |
8: 41,249,671 (GRCm39) |
V594I |
possibly damaging |
Het |
| Adgb |
A |
T |
10: 10,318,227 (GRCm39) |
|
probably null |
Het |
| Adgrb3 |
A |
C |
1: 25,150,906 (GRCm39) |
L1109R |
probably damaging |
Het |
| Angptl4 |
G |
A |
17: 33,996,008 (GRCm39) |
P323S |
possibly damaging |
Het |
| Arhgap21 |
A |
T |
2: 20,864,717 (GRCm39) |
M1197K |
probably damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,239,742 (GRCm39) |
T1319A |
probably damaging |
Het |
| C4bp |
A |
G |
1: 130,575,764 (GRCm39) |
|
probably null |
Het |
| Cd200r1 |
T |
C |
16: 44,610,374 (GRCm39) |
S161P |
possibly damaging |
Het |
| Ckap5 |
A |
G |
2: 91,445,495 (GRCm39) |
K1711E |
possibly damaging |
Het |
| Cldn19 |
T |
C |
4: 119,114,094 (GRCm39) |
S79P |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,251,427 (GRCm39) |
S1900P |
probably benign |
Het |
| Dnah17 |
T |
G |
11: 117,915,533 (GRCm39) |
N4334T |
probably damaging |
Het |
| Dpm2 |
G |
A |
2: 32,462,412 (GRCm39) |
|
probably null |
Het |
| Eef1a2 |
A |
T |
2: 180,794,626 (GRCm39) |
V191E |
probably damaging |
Het |
| Gmds |
G |
A |
13: 32,411,248 (GRCm39) |
T62I |
probably damaging |
Het |
| Hyal5 |
A |
T |
6: 24,876,630 (GRCm39) |
I168F |
probably damaging |
Het |
| Idh3a |
T |
C |
9: 54,499,679 (GRCm39) |
V31A |
probably benign |
Het |
| Inf2 |
C |
A |
12: 112,577,264 (GRCm39) |
A1036E |
unknown |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,051,564 (GRCm39) |
|
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lrp1b |
A |
G |
2: 41,335,206 (GRCm39) |
C779R |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,289,816 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
G |
A |
2: 69,379,391 (GRCm39) |
T107M |
probably damaging |
Het |
| Lrpap1 |
T |
C |
5: 35,255,547 (GRCm39) |
E184G |
probably benign |
Het |
| Mapre1 |
C |
T |
2: 153,588,201 (GRCm39) |
T8M |
possibly damaging |
Het |
| Mms19 |
G |
A |
19: 41,954,695 (GRCm39) |
Q75* |
probably null |
Het |
| Mtcl1 |
T |
C |
17: 66,649,949 (GRCm39) |
I1390V |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,411,289 (GRCm39) |
S1412G |
unknown |
Het |
| Myh4 |
A |
T |
11: 67,148,009 (GRCm39) |
Q1686L |
probably benign |
Het |
| Or1e25 |
A |
T |
11: 73,493,979 (GRCm39) |
D191V |
probably damaging |
Het |
| Or9s13 |
A |
T |
1: 92,547,805 (GRCm39) |
D59V |
probably damaging |
Het |
| Rcvrn |
A |
T |
11: 67,590,802 (GRCm39) |
I129F |
probably damaging |
Het |
| Reg3b |
T |
A |
6: 78,348,216 (GRCm39) |
M10K |
possibly damaging |
Het |
| Rimbp2 |
T |
A |
5: 128,850,529 (GRCm39) |
E918V |
probably damaging |
Het |
| Rpl5 |
A |
G |
5: 108,051,667 (GRCm39) |
T154A |
probably benign |
Het |
| Sall4 |
A |
C |
2: 168,598,162 (GRCm39) |
L195R |
probably damaging |
Het |
| Sh3gl2 |
T |
C |
4: 85,297,618 (GRCm39) |
S199P |
possibly damaging |
Het |
| Shank1 |
G |
T |
7: 43,994,416 (GRCm39) |
R859L |
unknown |
Het |
| Thsd7b |
A |
G |
1: 130,117,919 (GRCm39) |
E1445G |
possibly damaging |
Het |
| Tnfaip6 |
A |
G |
2: 51,942,339 (GRCm39) |
E216G |
probably benign |
Het |
| Tram1 |
T |
C |
1: 13,639,827 (GRCm39) |
T307A |
probably benign |
Het |
| Trpv5 |
A |
G |
6: 41,637,277 (GRCm39) |
V354A |
probably benign |
Het |
| Tyro3 |
A |
G |
2: 119,643,774 (GRCm39) |
E745G |
probably damaging |
Het |
| Vmn1r68 |
A |
T |
7: 10,261,408 (GRCm39) |
I230N |
probably damaging |
Het |
| Vmn2r28 |
A |
T |
7: 5,491,357 (GRCm39) |
W297R |
probably damaging |
Het |
| Vrk3 |
A |
T |
7: 44,412,460 (GRCm39) |
|
probably null |
Het |
| Zfhx4 |
T |
C |
3: 5,465,845 (GRCm39) |
V2001A |
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 |
|
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 |
|
|
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'- CGATGCCTTTGCTACAGGATC -3'
(R):5'- CAGGGTCTTGGCACTCATTTTC -3'
Sequencing Primer
(F):5'- TTGCTACAGGATCCAGCCC -3'
(R):5'- GGGGAGCAACCATCTATCTCAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation