Incidental Mutation 'IGL03406:Zfp456'
| ID |
421602 |
| 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 # |
IGL03406
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
67511700-67523872 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67514450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 419
(C419S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057070]
[ENSMUST00000166080]
[ENSMUST00000172266]
|
| AlphaFold |
B2RUK9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057070
AA Change: C419S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000059686
Gene: ENSMUSG00000078995
AA Change: C419S
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530016L24Rik |
T |
A |
12: 112,463,317 (GRCm39) |
|
probably null |
Het |
| Adcy7 |
C |
T |
8: 89,044,947 (GRCm39) |
R228* |
probably null |
Het |
| Cdcp1 |
T |
C |
9: 123,014,378 (GRCm39) |
H132R |
probably benign |
Het |
| Cfap107 |
A |
G |
4: 144,150,414 (GRCm39) |
Y56H |
probably damaging |
Het |
| Cyp4a32 |
T |
C |
4: 115,459,500 (GRCm39) |
I78T |
probably benign |
Het |
| Fap |
A |
T |
2: 62,372,466 (GRCm39) |
|
probably benign |
Het |
| Gad1-ps |
C |
T |
10: 99,280,641 (GRCm39) |
|
noncoding transcript |
Het |
| Gli3 |
T |
C |
13: 15,823,166 (GRCm39) |
I296T |
probably damaging |
Het |
| H2-Q2 |
T |
C |
17: 35,561,801 (GRCm39) |
V97A |
probably benign |
Het |
| Hr |
T |
A |
14: 70,800,860 (GRCm39) |
|
probably null |
Het |
| Itgax |
C |
T |
7: 127,748,370 (GRCm39) |
T1133I |
possibly damaging |
Het |
| L3mbtl2 |
G |
A |
15: 81,566,194 (GRCm39) |
R339H |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,873,615 (GRCm39) |
K1726E |
possibly damaging |
Het |
| Nlrc5 |
T |
C |
8: 95,203,483 (GRCm39) |
Y528H |
probably benign |
Het |
| Nmnat3 |
G |
A |
9: 98,281,530 (GRCm39) |
G44D |
probably damaging |
Het |
| Nol8 |
A |
T |
13: 49,815,044 (GRCm39) |
D366V |
probably damaging |
Het |
| Or13a25 |
C |
A |
7: 140,247,424 (GRCm39) |
L68M |
probably damaging |
Het |
| Pde4d |
A |
T |
13: 110,091,125 (GRCm39) |
|
probably benign |
Het |
| Ptpn22 |
C |
A |
3: 103,819,332 (GRCm39) |
N795K |
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,549,739 (GRCm39) |
V289D |
probably damaging |
Het |
| Slc50a1 |
T |
C |
3: 89,177,408 (GRCm39) |
D40G |
possibly damaging |
Het |
| Slco6b1 |
T |
C |
1: 96,875,310 (GRCm39) |
|
noncoding transcript |
Het |
| Smarcad1 |
T |
A |
6: 65,069,510 (GRCm39) |
F530Y |
probably damaging |
Het |
| Spag6 |
A |
G |
2: 18,747,684 (GRCm39) |
|
probably benign |
Het |
| Supt16 |
A |
T |
14: 52,415,598 (GRCm39) |
I379N |
possibly damaging |
Het |
| Tmem154 |
A |
G |
3: 84,591,567 (GRCm39) |
N39S |
probably benign |
Het |
| Ubash3b |
T |
A |
9: 40,948,775 (GRCm39) |
Y180F |
probably damaging |
Het |
| Usp48 |
T |
A |
4: 137,366,606 (GRCm39) |
D921E |
possibly damaging |
Het |
| Zdhhc20 |
T |
C |
14: 58,076,556 (GRCm39) |
T366A |
probably benign |
Het |
| Zfp69 |
T |
C |
4: 120,788,281 (GRCm39) |
T345A |
probably benign |
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 |
|
IGL03200:Zfp456
|
APN |
13 |
67,514,596 (GRCm39) |
missense |
probably benign |
|
|
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