Incidental Mutation 'R1943:Zfp512b'
ID |
216350 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp512b
|
Ensembl Gene |
ENSMUSG00000000823 |
Gene Name |
zinc finger protein 512B |
Synonyms |
LOC269401, Znf512b |
MMRRC Submission |
039961-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1943 (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 181230208 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 516
(H516R)
|
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: H506R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000104417 Gene: ENSMUSG00000000823 AA Change: H506R
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: H516R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000115601 Gene: ENSMUSG00000000823 AA Change: H516R
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: H64R
|
SMART Domains |
Protein: ENSMUSP00000119677 Gene: ENSMUSG00000000823 AA Change: H64R
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 |
noncoding transcript
Transcript: ENSMUST00000183624
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152365
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136759
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155947
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150552
|
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 |
|
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: ENSMUST00000135561
|
SMART Domains |
Protein: ENSMUSP00000121721 Gene: ENSMUSG00000000823
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
12 |
35 |
1.45e-2 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,645,506 (GRCm39) |
N1017S |
possibly damaging |
Het |
Abca8a |
T |
C |
11: 109,960,689 (GRCm39) |
I610V |
probably benign |
Het |
Acp5 |
C |
T |
9: 22,040,900 (GRCm39) |
V108M |
probably damaging |
Het |
Adam23 |
T |
C |
1: 63,516,916 (GRCm39) |
|
probably null |
Het |
Adam34 |
T |
A |
8: 44,103,864 (GRCm39) |
T594S |
possibly damaging |
Het |
Adam34 |
A |
T |
8: 44,104,852 (GRCm39) |
N264K |
probably damaging |
Het |
Arsa |
G |
A |
15: 89,357,742 (GRCm39) |
T407I |
probably damaging |
Het |
Bicc1 |
A |
G |
10: 70,995,353 (GRCm39) |
S32P |
probably damaging |
Het |
Cacna1i |
T |
A |
15: 80,279,245 (GRCm39) |
D1995E |
probably benign |
Het |
Cemip2 |
G |
A |
19: 21,825,404 (GRCm39) |
|
probably null |
Het |
Chst15 |
A |
T |
7: 131,864,579 (GRCm39) |
|
probably null |
Het |
Cntnap4 |
T |
A |
8: 113,542,128 (GRCm39) |
F754I |
probably benign |
Het |
Cpz |
C |
T |
5: 35,669,772 (GRCm39) |
E302K |
probably damaging |
Het |
Daw1 |
A |
T |
1: 83,186,987 (GRCm39) |
I371F |
possibly damaging |
Het |
Dennd1b |
C |
A |
1: 139,096,690 (GRCm39) |
|
probably benign |
Het |
Dhtkd1 |
T |
G |
2: 5,937,293 (GRCm39) |
Q73P |
probably benign |
Het |
Dmgdh |
T |
C |
13: 93,847,878 (GRCm39) |
I525T |
probably benign |
Het |
Dst |
C |
A |
1: 34,267,450 (GRCm39) |
T4964K |
possibly damaging |
Het |
Ercc3 |
A |
G |
18: 32,379,663 (GRCm39) |
Y290C |
probably damaging |
Het |
Fh1 |
C |
T |
1: 175,437,344 (GRCm39) |
V252I |
probably benign |
Het |
Gm13199 |
C |
T |
2: 5,867,517 (GRCm39) |
|
probably benign |
Het |
Il1rn |
T |
C |
2: 24,238,611 (GRCm39) |
S82P |
possibly damaging |
Het |
Lama4 |
T |
C |
10: 38,973,134 (GRCm39) |
V1567A |
possibly damaging |
Het |
Lamtor4 |
A |
G |
5: 138,254,054 (GRCm39) |
|
probably null |
Het |
Llgl1 |
A |
G |
11: 60,596,842 (GRCm39) |
N148D |
probably benign |
Het |
Lmo7 |
G |
T |
14: 102,139,738 (GRCm39) |
G774V |
probably damaging |
Het |
Luzp2 |
A |
T |
7: 54,914,050 (GRCm39) |
K293M |
possibly damaging |
Het |
Mknk1 |
T |
C |
4: 115,720,223 (GRCm39) |
V83A |
probably damaging |
Het |
Mug2 |
T |
C |
6: 122,056,598 (GRCm39) |
V1181A |
probably benign |
Het |
Myo16 |
G |
A |
8: 10,644,905 (GRCm39) |
D1746N |
possibly damaging |
Het |
Or1ad8 |
A |
G |
11: 50,898,502 (GRCm39) |
I234M |
probably benign |
Het |
Or2aj4 |
A |
T |
16: 19,385,187 (GRCm39) |
W149R |
probably benign |
Het |
Osbpl3 |
A |
G |
6: 50,297,054 (GRCm39) |
I548T |
probably benign |
Het |
Parp14 |
A |
G |
16: 35,656,499 (GRCm39) |
Y1676H |
probably damaging |
Het |
Phtf1 |
A |
T |
3: 103,901,198 (GRCm39) |
K416* |
probably null |
Het |
Pmp2 |
T |
C |
3: 10,247,570 (GRCm39) |
T40A |
probably benign |
Het |
Ptpra |
T |
C |
2: 130,386,024 (GRCm39) |
M541T |
probably damaging |
Het |
Rapgef6 |
A |
G |
11: 54,548,089 (GRCm39) |
I753V |
possibly damaging |
Het |
Rdh14 |
T |
C |
12: 10,441,162 (GRCm39) |
V108A |
probably benign |
Het |
Rnf38 |
A |
T |
4: 44,138,748 (GRCm39) |
H248Q |
probably damaging |
Het |
Rsph6a |
A |
C |
7: 18,808,001 (GRCm39) |
Y388S |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,746,609 (GRCm39) |
D1981G |
probably benign |
Het |
Sf3a3 |
A |
G |
4: 124,609,694 (GRCm39) |
K97E |
possibly damaging |
Het |
Shisa9 |
A |
G |
16: 12,085,620 (GRCm39) |
T394A |
probably benign |
Het |
Slc43a2 |
T |
A |
11: 75,436,567 (GRCm39) |
|
probably null |
Het |
Slc45a1 |
A |
G |
4: 150,728,734 (GRCm39) |
F23S |
probably benign |
Het |
Slc7a10 |
T |
A |
7: 34,899,723 (GRCm39) |
V435E |
probably benign |
Het |
Snx15 |
A |
G |
19: 6,178,096 (GRCm39) |
Y28H |
probably damaging |
Het |
Spef2 |
T |
G |
15: 9,663,280 (GRCm39) |
K834Q |
possibly damaging |
Het |
Tdpoz2 |
G |
T |
3: 93,559,230 (GRCm39) |
Y247* |
probably null |
Het |
Tedc2 |
G |
A |
17: 24,436,923 (GRCm39) |
R271W |
possibly damaging |
Het |
Tfr2 |
C |
A |
5: 137,577,183 (GRCm39) |
H378Q |
probably benign |
Het |
Tigit |
T |
A |
16: 43,469,581 (GRCm39) |
H170L |
probably benign |
Het |
Tmem62 |
A |
T |
2: 120,817,107 (GRCm39) |
Q91L |
probably benign |
Het |
Tmtc1 |
G |
T |
6: 148,327,416 (GRCm39) |
C32* |
probably null |
Het |
Txndc12 |
G |
A |
4: 108,713,407 (GRCm39) |
V90I |
probably benign |
Het |
Vmn2r93 |
C |
A |
17: 18,546,063 (GRCm39) |
T645K |
probably benign |
Het |
Vmn2r96 |
C |
T |
17: 18,806,664 (GRCm39) |
T345I |
probably benign |
Het |
Vps13d |
A |
T |
4: 144,882,427 (GRCm39) |
D1055E |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,342,959 (GRCm39) |
I1733M |
probably benign |
Het |
Zfp606 |
T |
C |
7: 12,227,615 (GRCm39) |
S521P |
probably damaging |
Het |
Zfp715 |
A |
T |
7: 42,949,054 (GRCm39) |
V302E |
possibly damaging |
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 |
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'- TACCTTGGCACTGTGTTCAGC -3'
(R):5'- CTGGATCCTGTAGCAAAGGC -3'
Sequencing Primer
(F):5'- GCACTGTGTTCAGCCATGG -3'
(R):5'- TCCTGTAGCAAAGGCATCGG -3'
|
Posted On |
2014-08-01 |