Incidental Mutation 'R4607:Zfp512b'
| ID |
346061 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp512b
|
| Ensembl Gene |
ENSMUSG00000000823 |
| Gene Name |
zinc finger protein 512B |
| Synonyms |
LOC269401, Znf512b |
| MMRRC Submission |
041818-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4607 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
181223925-181234572 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 181230567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 441
(R441L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115601
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108789]
[ENSMUST00000128553]
[ENSMUST00000132714]
[ENSMUST00000153998]
[ENSMUST00000140103]
|
| AlphaFold |
Q6PHP4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108789
AA Change: R431L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104417
Gene: ENSMUSG00000000823
AA Change: R431L
| 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: R441L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115601
Gene: ENSMUSG00000000823
AA Change: R441L
| 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: ENSMUST00000183624
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150552
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136759
|
| 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0800 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (65/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
T |
A |
10: 106,802,890 (GRCm39) |
I452F |
possibly damaging |
Het |
| Adgra3 |
A |
C |
5: 50,128,081 (GRCm39) |
V800G |
probably damaging |
Het |
| Aldh1a1 |
A |
T |
19: 20,599,051 (GRCm39) |
Y154F |
probably benign |
Het |
| Bbs10 |
T |
G |
10: 111,136,681 (GRCm39) |
I598S |
probably damaging |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Ccnl1 |
C |
T |
3: 65,854,131 (GRCm39) |
|
probably benign |
Het |
| Chrna9 |
A |
G |
5: 66,134,078 (GRCm39) |
I310V |
possibly damaging |
Het |
| Cpeb3 |
A |
G |
19: 37,152,239 (GRCm39) |
S46P |
possibly damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dlgap5 |
A |
G |
14: 47,650,475 (GRCm39) |
I151T |
possibly damaging |
Het |
| Dsg4 |
C |
T |
18: 20,604,302 (GRCm39) |
T923M |
probably damaging |
Het |
| Eif4g3 |
G |
T |
4: 137,853,769 (GRCm39) |
R618L |
probably benign |
Het |
| Erlin1 |
C |
T |
19: 44,051,474 (GRCm39) |
V76M |
probably damaging |
Het |
| Fam161a |
G |
A |
11: 22,970,710 (GRCm39) |
S296N |
probably benign |
Het |
| Fam187b |
T |
A |
7: 30,677,170 (GRCm39) |
N226K |
probably benign |
Het |
| Fes |
G |
A |
7: 80,036,959 (GRCm39) |
R42W |
probably damaging |
Het |
| Fmnl2 |
T |
A |
2: 52,993,728 (GRCm39) |
N374K |
possibly damaging |
Het |
| Fpgt |
G |
A |
3: 154,792,333 (GRCm39) |
Q565* |
probably null |
Het |
| Gm26657 |
C |
A |
4: 56,741,114 (GRCm39) |
H100N |
probably benign |
Het |
| Gna14 |
A |
G |
19: 16,511,075 (GRCm39) |
|
probably null |
Het |
| Gsg1l |
T |
A |
7: 125,557,721 (GRCm39) |
I136F |
probably damaging |
Het |
| Hhip |
C |
T |
8: 80,724,192 (GRCm39) |
R350Q |
probably damaging |
Het |
| Ints10 |
G |
A |
8: 69,263,271 (GRCm39) |
R394Q |
probably damaging |
Het |
| Ipo11 |
A |
G |
13: 107,037,319 (GRCm39) |
S175P |
probably damaging |
Het |
| Klk13 |
C |
A |
7: 43,363,284 (GRCm39) |
C10* |
probably null |
Het |
| Leng8 |
T |
A |
7: 4,147,796 (GRCm39) |
I607N |
probably damaging |
Het |
| Map3k2 |
T |
C |
18: 32,333,030 (GRCm39) |
L68P |
probably damaging |
Het |
| Memo1 |
G |
A |
17: 74,565,456 (GRCm39) |
Q36* |
probably null |
Het |
| Mink1 |
A |
G |
11: 70,496,893 (GRCm39) |
E417G |
possibly damaging |
Het |
| Myrf |
G |
T |
19: 10,206,431 (GRCm39) |
D29E |
probably damaging |
Het |
| Nelfcd |
T |
A |
2: 174,264,955 (GRCm39) |
D215E |
probably benign |
Het |
| Nostrin |
G |
A |
2: 69,014,243 (GRCm39) |
V400M |
possibly damaging |
Het |
| Nrip1 |
T |
C |
16: 76,089,920 (GRCm39) |
T546A |
probably benign |
Het |
| Or13a24 |
A |
G |
7: 140,154,554 (GRCm39) |
M163V |
probably benign |
Het |
| Or1l4 |
T |
A |
2: 37,092,094 (GRCm39) |
Y280* |
probably null |
Het |
| Or2h2b-ps1 |
A |
T |
17: 37,481,173 (GRCm39) |
V20E |
probably damaging |
Het |
| Or4c114 |
G |
T |
2: 88,904,656 (GRCm39) |
P260T |
probably benign |
Het |
| Or6aa1 |
A |
T |
7: 86,043,718 (GRCm39) |
|
probably null |
Het |
| Or8g32 |
T |
C |
9: 39,306,031 (GRCm39) |
*312Q |
probably null |
Het |
| P2ry6 |
A |
G |
7: 100,587,511 (GRCm39) |
Y283H |
probably damaging |
Het |
| Pcdh9 |
T |
A |
14: 93,253,009 (GRCm39) |
N1218I |
probably benign |
Het |
| Pcdhga6 |
A |
G |
18: 37,841,671 (GRCm39) |
N464D |
probably damaging |
Het |
| Pramel52-ps |
G |
T |
5: 94,531,387 (GRCm39) |
R90S |
probably benign |
Het |
| Rdx |
T |
A |
9: 51,980,137 (GRCm39) |
S243R |
probably damaging |
Het |
| Rxfp1 |
T |
C |
3: 79,594,196 (GRCm39) |
N66S |
probably damaging |
Het |
| Slit1 |
C |
A |
19: 41,605,232 (GRCm39) |
R873L |
probably benign |
Het |
| Spata31e3 |
G |
A |
13: 50,399,542 (GRCm39) |
T928I |
possibly damaging |
Het |
| Strc |
T |
A |
2: 121,203,426 (GRCm39) |
I1130F |
probably benign |
Het |
| Tlk2 |
T |
A |
11: 105,145,844 (GRCm39) |
L350Q |
probably damaging |
Het |
| Tmem74 |
G |
T |
15: 43,730,554 (GRCm39) |
T163K |
probably damaging |
Het |
| Trav15-1-dv6-1 |
T |
A |
14: 53,797,511 (GRCm39) |
H53Q |
probably benign |
Het |
| Trbv24 |
T |
C |
6: 41,195,335 (GRCm39) |
|
probably benign |
Het |
| Uba2 |
T |
C |
7: 33,854,021 (GRCm39) |
D307G |
probably damaging |
Het |
| Uty |
C |
T |
Y: 1,131,134 (GRCm39) |
R924Q |
probably damaging |
Het |
| Wdr7 |
C |
T |
18: 63,910,651 (GRCm39) |
T681I |
probably benign |
Het |
| Zbtb42 |
C |
T |
12: 112,646,976 (GRCm39) |
R384W |
probably damaging |
Het |
| Zfand4 |
T |
A |
6: 116,305,195 (GRCm39) |
C207* |
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 |
|
|
R4171:Zfp512b
|
UTSW |
2 |
181,232,391 (GRCm39) |
splice site |
probably null |
|
|
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'- TGCCTTTGCTACAGGATCCAG -3'
(R):5'- ACTGTGTGACCAGGGTCTTG -3'
Sequencing Primer
(F):5'- TTTGCTACAGGATCCAGCCCAC -3'
(R):5'- TGACCAGGGTCTTGGCACTC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation