Incidental Mutation 'R1560:Zfp512b'
| ID |
170537 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp512b
|
| Ensembl Gene |
ENSMUSG00000000823 |
| Gene Name |
zinc finger protein 512B |
| Synonyms |
LOC269401, Znf512b |
| MMRRC Submission |
039599-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1560 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
181223925-181234572 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 181230472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 473
(T473A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115601
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108789]
[ENSMUST00000128553]
[ENSMUST00000132714]
[ENSMUST00000140103]
[ENSMUST00000153998]
|
| AlphaFold |
Q6PHP4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108789
AA Change: T463A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104417
Gene: ENSMUSG00000000823
AA Change: T463A
| 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 benign
Transcript: ENSMUST00000128553
AA Change: T473A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000115601
Gene: ENSMUSG00000000823
AA Change: T473A
| 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: T21A
|
| SMART Domains |
Protein: ENSMUSP00000119677
Gene: ENSMUSG00000000823
AA Change: T21A
| 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: ENSMUST00000155947
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152365
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150552
|
| 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
A |
G |
7: 41,275,466 (GRCm39) |
T390A |
probably benign |
Het |
| Adamts8 |
T |
A |
9: 30,867,963 (GRCm39) |
C596S |
probably damaging |
Het |
| Avl9 |
T |
A |
6: 56,702,113 (GRCm39) |
Y89* |
probably null |
Het |
| Cacna1e |
G |
A |
1: 154,296,850 (GRCm39) |
R18* |
probably null |
Het |
| Cacng2 |
A |
G |
15: 77,897,518 (GRCm39) |
F97S |
probably benign |
Het |
| Calu |
A |
G |
6: 29,361,657 (GRCm39) |
D107G |
probably benign |
Het |
| Capns2 |
G |
A |
8: 93,628,771 (GRCm39) |
R220Q |
probably damaging |
Het |
| Catsperb |
C |
T |
12: 101,591,985 (GRCm39) |
T1105I |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,804,825 (GRCm39) |
N753D |
possibly damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dnah5 |
G |
T |
15: 28,420,149 (GRCm39) |
V3816F |
probably damaging |
Het |
| Dzip3 |
T |
C |
16: 48,771,903 (GRCm39) |
|
probably null |
Het |
| Ep400 |
A |
T |
5: 110,818,972 (GRCm39) |
|
probably null |
Het |
| Epb41l2 |
T |
A |
10: 25,371,334 (GRCm39) |
|
probably null |
Het |
| Fetub |
T |
C |
16: 22,758,117 (GRCm39) |
V300A |
probably benign |
Het |
| Gabrb3 |
A |
T |
7: 57,466,043 (GRCm39) |
M308L |
probably damaging |
Het |
| Galnt16 |
A |
T |
12: 80,648,566 (GRCm39) |
D546V |
possibly damaging |
Het |
| Gimap8 |
G |
T |
6: 48,633,068 (GRCm39) |
G296W |
probably damaging |
Het |
| Gpr158 |
A |
G |
2: 21,831,125 (GRCm39) |
K742E |
probably damaging |
Het |
| Hmbs |
T |
C |
9: 44,248,657 (GRCm39) |
H72R |
possibly damaging |
Het |
| Krt16 |
A |
G |
11: 100,137,475 (GRCm39) |
I410T |
probably damaging |
Het |
| Lamb3 |
G |
A |
1: 193,021,710 (GRCm39) |
A971T |
probably benign |
Het |
| Lilra6 |
A |
C |
7: 3,914,407 (GRCm39) |
|
probably null |
Het |
| Mroh7 |
A |
T |
4: 106,568,451 (GRCm39) |
M418K |
possibly damaging |
Het |
| Myh11 |
T |
A |
16: 14,044,484 (GRCm39) |
K640* |
probably null |
Het |
| Nsd1 |
T |
A |
13: 55,394,533 (GRCm39) |
C711* |
probably null |
Het |
| Or1j17 |
T |
A |
2: 36,578,155 (GRCm39) |
L47Q |
probably damaging |
Het |
| Or2ak5 |
A |
T |
11: 58,611,513 (GRCm39) |
Y120* |
probably null |
Het |
| Or3a10 |
A |
G |
11: 73,935,441 (GRCm39) |
S220P |
probably damaging |
Het |
| Or4c111 |
T |
C |
2: 88,843,550 (GRCm39) |
Y286C |
probably damaging |
Het |
| Otop3 |
A |
T |
11: 115,235,289 (GRCm39) |
H307L |
possibly damaging |
Het |
| Plekhm3 |
T |
C |
1: 64,976,976 (GRCm39) |
T165A |
probably benign |
Het |
| Poldip3 |
G |
A |
15: 83,022,527 (GRCm39) |
R86W |
probably damaging |
Het |
| Rif1 |
A |
T |
2: 52,001,143 (GRCm39) |
R1532S |
probably damaging |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Slc27a6 |
T |
A |
18: 58,712,904 (GRCm39) |
L242* |
probably null |
Het |
| Spata45 |
T |
C |
1: 190,772,017 (GRCm39) |
S80P |
probably benign |
Het |
| Taf4 |
A |
G |
2: 179,577,746 (GRCm39) |
V525A |
probably benign |
Het |
| Tbck |
A |
G |
3: 132,543,809 (GRCm39) |
T887A |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,650,463 (GRCm39) |
T1571I |
probably damaging |
Het |
| Trim38 |
A |
G |
13: 23,966,685 (GRCm39) |
Y44C |
probably benign |
Het |
| Tsg101 |
A |
T |
7: 46,542,208 (GRCm39) |
|
probably null |
Het |
| Tsku |
T |
A |
7: 98,002,151 (GRCm39) |
D60V |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
| Upf1 |
G |
A |
8: 70,791,092 (GRCm39) |
P550L |
probably damaging |
Het |
| Vipr2 |
A |
G |
12: 116,058,401 (GRCm39) |
D106G |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,843,745 (GRCm39) |
|
probably null |
Het |
| Washc4 |
T |
C |
10: 83,391,973 (GRCm39) |
Y220H |
probably damaging |
Het |
| Wdr81 |
C |
T |
11: 75,342,449 (GRCm39) |
W939* |
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 |
|
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'- AGGCCAGCCTTGGACTTGAATTG -3'
(R):5'- ACAGGGGAGCAACCATCTATCTCAG -3'
Sequencing Primer
(F):5'- CTGCAACTGAAGTCATGGTC -3'
(R):5'- CTATCTCAGGGACCTTTGGGC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation