Incidental Mutation 'R4171:Zfp512b'
| ID |
318125 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp512b
|
| Ensembl Gene |
ENSMUSG00000000823 |
| Gene Name |
zinc finger protein 512B |
| Synonyms |
LOC269401, Znf512b |
| MMRRC Submission |
041011-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4171 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
181223925-181234572 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 181232391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117711
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060173]
[ENSMUST00000108789]
[ENSMUST00000128553]
[ENSMUST00000132714]
[ENSMUST00000153998]
[ENSMUST00000140103]
[ENSMUST00000183836]
|
| AlphaFold |
Q6PHP4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060173
|
| SMART Domains |
Protein: ENSMUSP00000060499
Gene: ENSMUSG00000038605
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
115 |
184 |
1.61e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108789
AA Change: H47Y
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000104417
Gene: ENSMUSG00000000823
AA Change: H47Y
| 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: H26Y
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000115601
Gene: ENSMUSG00000000823
AA Change: H26Y
| 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 null
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 |
possibly damaging
Transcript: ENSMUST00000153998
AA Change: H47Y
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000123096
Gene: ENSMUSG00000000823
AA Change: H47Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
26 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150552
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155947
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183624
|
| 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: ENSMUST00000183836
|
| 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 |
|
| Meta Mutation Damage Score |
0.2403 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 2310022A10Rik |
A |
G |
7: 27,265,109 (GRCm39) |
N87S |
probably benign |
Het |
| Apmap |
A |
G |
2: 150,425,987 (GRCm39) |
V387A |
probably benign |
Het |
| B130024G19Rik |
C |
T |
7: 70,038,454 (GRCm39) |
|
noncoding transcript |
Het |
| Cd200r1 |
A |
G |
16: 44,613,127 (GRCm39) |
I244M |
probably damaging |
Het |
| Clic6 |
T |
C |
16: 92,293,949 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
A |
G |
3: 114,001,863 (GRCm39) |
D429G |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,591,636 (GRCm39) |
Y458* |
probably null |
Het |
| Elapor1 |
G |
T |
3: 108,368,259 (GRCm39) |
Q885K |
probably benign |
Het |
| Fbxl13 |
A |
G |
5: 21,748,786 (GRCm39) |
Y378H |
probably benign |
Het |
| Ifi203 |
A |
C |
1: 173,761,341 (GRCm39) |
|
probably benign |
Het |
| Ifna6 |
T |
C |
4: 88,746,038 (GRCm39) |
V129A |
probably benign |
Het |
| Igkv3-4 |
G |
A |
6: 70,649,324 (GRCm39) |
A108T |
probably damaging |
Het |
| Itga1 |
G |
A |
13: 115,167,422 (GRCm39) |
Q165* |
probably null |
Het |
| Kdm4c |
T |
A |
4: 74,199,135 (GRCm39) |
Y108N |
possibly damaging |
Het |
| Lap3 |
T |
C |
5: 45,666,833 (GRCm39) |
S412P |
probably benign |
Het |
| Lrfn5 |
G |
A |
12: 61,890,168 (GRCm39) |
V486I |
probably damaging |
Het |
| Mep1b |
A |
T |
18: 21,228,163 (GRCm39) |
|
probably null |
Het |
| Mettl6 |
T |
C |
14: 31,215,624 (GRCm39) |
N52S |
probably damaging |
Het |
| Nup54 |
A |
G |
5: 92,565,343 (GRCm39) |
I458T |
possibly damaging |
Het |
| Or1e16 |
A |
C |
11: 73,286,365 (GRCm39) |
L161R |
probably damaging |
Het |
| Or6c204 |
G |
A |
10: 129,022,453 (GRCm39) |
A279V |
probably benign |
Het |
| Pecr |
A |
T |
1: 72,315,428 (GRCm39) |
N107K |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,593,997 (GRCm39) |
Q1307R |
probably benign |
Het |
| Poll |
T |
C |
19: 45,544,492 (GRCm39) |
K310E |
probably damaging |
Het |
| Rab29 |
A |
G |
1: 131,795,475 (GRCm39) |
Q29R |
probably benign |
Het |
| Reg2 |
G |
A |
6: 78,383,574 (GRCm39) |
G99D |
probably damaging |
Het |
| Rftn2 |
G |
A |
1: 55,253,429 (GRCm39) |
S58L |
probably damaging |
Het |
| Rps6kb1 |
T |
C |
11: 86,435,405 (GRCm39) |
E43G |
possibly damaging |
Het |
| Sdk2 |
T |
C |
11: 113,757,815 (GRCm39) |
|
probably null |
Het |
| Slc38a6 |
T |
A |
12: 73,397,326 (GRCm39) |
Y323N |
probably benign |
Het |
| Sp100 |
T |
C |
1: 85,634,562 (GRCm39) |
S152P |
probably benign |
Het |
| Tmc5 |
A |
G |
7: 118,248,810 (GRCm39) |
Y605C |
probably damaging |
Het |
| Txndc17 |
T |
C |
11: 72,098,537 (GRCm39) |
Y30H |
probably damaging |
Het |
| Vmn1r44 |
T |
A |
6: 89,870,996 (GRCm39) |
F247L |
probably damaging |
Het |
| Zbtb39 |
C |
T |
10: 127,578,236 (GRCm39) |
T270I |
possibly damaging |
Het |
| Zwilch |
T |
A |
9: 64,065,997 (GRCm39) |
R255* |
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 |
|
|
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 |
|
|
R3877:Zfp512b
|
UTSW |
2 |
181,230,556 (GRCm39) |
frame shift |
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'- GGGTACATGCTCAAACAAACTGG -3'
(R):5'- ATCCTGAGGACCTTTGTGGG -3'
Sequencing Primer
(F):5'- GTGGCCTTCACAGACTAAATTG -3'
(R):5'- GGGTGGAGATTGTCAGCC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation