Incidental Mutation 'IGL03200:Zfp456'
| ID |
412956 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp456
|
| Ensembl Gene |
ENSMUSG00000078995 |
| Gene Name |
zinc finger protein 456 |
| Synonyms |
Rslcan-13 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
IGL03200
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
67511700-67523872 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 67514596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 370
(R370H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057070]
[ENSMUST00000166080]
[ENSMUST00000172266]
|
| AlphaFold |
B2RUK9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057070
AA Change: R370H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000059686
Gene: ENSMUSG00000078995
AA Change: R370H
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
2 |
62 |
3.07e-33 |
SMART |
|
ZnF_C2H2
|
106 |
128 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
134 |
156 |
5.77e0 |
SMART |
|
ZnF_C2H2
|
162 |
184 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
190 |
212 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
246 |
268 |
2.17e-1 |
SMART |
|
ZnF_C2H2
|
274 |
296 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
302 |
324 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
330 |
352 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
358 |
380 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
414 |
436 |
7.9e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165145
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166080
|
| SMART Domains |
Protein: ENSMUSP00000126669
Gene: ENSMUSG00000098692
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
2 |
62 |
3.07e-33 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172266
|
| SMART Domains |
Protein: ENSMUSP00000130928
Gene: ENSMUSG00000078995
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
2 |
62 |
3.07e-33 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
G |
12: 118,928,989 (GRCm39) |
|
probably benign |
Het |
| Degs1 |
A |
T |
1: 182,107,256 (GRCm39) |
M1K |
probably null |
Het |
| Eif3e |
A |
T |
15: 43,115,657 (GRCm39) |
W370R |
probably damaging |
Het |
| H2-M10.6 |
G |
A |
17: 37,124,908 (GRCm39) |
G275E |
probably damaging |
Het |
| Itga8 |
C |
T |
2: 12,196,010 (GRCm39) |
V647I |
probably benign |
Het |
| Kcnip2 |
T |
G |
19: 45,782,502 (GRCm39) |
K190Q |
probably damaging |
Het |
| Mbd1 |
T |
G |
18: 74,409,502 (GRCm39) |
S251A |
probably benign |
Het |
| Mcpt9 |
T |
A |
14: 56,264,390 (GRCm39) |
H235L |
probably benign |
Het |
| Ndst1 |
A |
T |
18: 60,832,611 (GRCm39) |
I573N |
possibly damaging |
Het |
| Ntan1 |
C |
T |
16: 13,652,591 (GRCm39) |
P229L |
probably damaging |
Het |
| Rbl2 |
T |
C |
8: 91,823,395 (GRCm39) |
I441T |
probably benign |
Het |
| Spmap2l |
T |
A |
5: 77,208,711 (GRCm39) |
V413D |
possibly damaging |
Het |
| Sulf1 |
C |
T |
1: 12,856,841 (GRCm39) |
R31* |
probably null |
Het |
| Taok1 |
G |
A |
11: 77,466,478 (GRCm39) |
Q124* |
probably null |
Het |
| Tmem140 |
A |
G |
6: 34,849,814 (GRCm39) |
E110G |
possibly damaging |
Het |
| U2surp |
G |
A |
9: 95,373,444 (GRCm39) |
R242* |
probably null |
Het |
| Ywhag |
G |
A |
5: 135,939,914 (GRCm39) |
R227* |
probably null |
Het |
|
| Other mutations in Zfp456 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01769:Zfp456
|
APN |
13 |
67,515,272 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03406:Zfp456
|
APN |
13 |
67,514,450 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0667:Zfp456
|
UTSW |
13 |
67,514,861 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0729:Zfp456
|
UTSW |
13 |
67,514,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Zfp456
|
UTSW |
13 |
67,514,674 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1832:Zfp456
|
UTSW |
13 |
67,515,482 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2011:Zfp456
|
UTSW |
13 |
67,514,993 (GRCm39) |
nonsense |
probably null |
|
|
R2022:Zfp456
|
UTSW |
13 |
67,514,616 (GRCm39) |
nonsense |
probably null |
|
|
R2023:Zfp456
|
UTSW |
13 |
67,514,616 (GRCm39) |
nonsense |
probably null |
|
|
R2438:Zfp456
|
UTSW |
13 |
67,515,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2516:Zfp456
|
UTSW |
13 |
67,510,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2896:Zfp456
|
UTSW |
13 |
67,515,416 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R3964:Zfp456
|
UTSW |
13 |
67,514,900 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4930:Zfp456
|
UTSW |
13 |
67,515,065 (GRCm39) |
missense |
probably benign |
|
|
R4971:Zfp456
|
UTSW |
13 |
67,514,995 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5357:Zfp456
|
UTSW |
13 |
67,520,328 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5754:Zfp456
|
UTSW |
13 |
67,514,359 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5795:Zfp456
|
UTSW |
13 |
67,515,039 (GRCm39) |
missense |
probably benign |
|
|
R6339:Zfp456
|
UTSW |
13 |
67,510,483 (GRCm39) |
nonsense |
probably null |
|
|
R6904:Zfp456
|
UTSW |
13 |
67,514,384 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7071:Zfp456
|
UTSW |
13 |
67,520,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7690:Zfp456
|
UTSW |
13 |
67,514,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8228:Zfp456
|
UTSW |
13 |
67,514,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8410:Zfp456
|
UTSW |
13 |
67,520,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8507:Zfp456
|
UTSW |
13 |
67,515,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8745:Zfp456
|
UTSW |
13 |
67,515,373 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8928:Zfp456
|
UTSW |
13 |
67,514,603 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9331:Zfp456
|
UTSW |
13 |
67,514,389 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2016-08-02 |
Incidental Mutation