Incidental Mutation 'R2438:Zfp456'
| ID |
249707 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2438 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
67511700-67523872 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67515073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 211
(I211N)
|
| 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: I211N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000059686
Gene: ENSMUSG00000078995
AA Change: I211N
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
G |
16: 30,936,133 (GRCm39) |
V318A |
probably damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cd8b1 |
A |
G |
6: 71,306,740 (GRCm39) |
K156E |
probably damaging |
Het |
| Ckap5 |
T |
C |
2: 91,425,753 (GRCm39) |
M1262T |
possibly damaging |
Het |
| Crebbp |
A |
G |
16: 3,972,722 (GRCm39) |
M324T |
possibly damaging |
Het |
| Cwf19l1 |
G |
A |
19: 44,099,002 (GRCm39) |
R523C |
probably benign |
Het |
| Defb21 |
A |
T |
2: 152,416,695 (GRCm39) |
Y57F |
possibly damaging |
Het |
| Ebf2 |
T |
A |
14: 67,625,391 (GRCm39) |
V233D |
probably damaging |
Het |
| Gfpt1 |
A |
T |
6: 87,034,727 (GRCm39) |
E175V |
probably null |
Het |
| Gga1 |
T |
C |
15: 78,769,498 (GRCm39) |
F157S |
probably damaging |
Het |
| Impdh2 |
A |
T |
9: 108,437,815 (GRCm39) |
D28V |
probably benign |
Het |
| Itgav |
A |
G |
2: 83,606,886 (GRCm39) |
D409G |
probably damaging |
Het |
| Krt5 |
T |
C |
15: 101,620,093 (GRCm39) |
N208S |
probably benign |
Het |
| Matcap2 |
T |
C |
9: 22,342,979 (GRCm39) |
V291A |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,373,878 (GRCm39) |
I1242F |
probably damaging |
Het |
| Myo1g |
A |
T |
11: 6,461,542 (GRCm39) |
N636K |
probably damaging |
Het |
| Nrros |
T |
C |
16: 31,962,929 (GRCm39) |
|
probably null |
Het |
| Nrros |
C |
T |
16: 31,963,117 (GRCm39) |
G264D |
probably benign |
Het |
| Nsun4 |
A |
G |
4: 115,905,794 (GRCm39) |
V54A |
probably benign |
Het |
| Or4k49 |
A |
T |
2: 111,495,096 (GRCm39) |
D175V |
probably damaging |
Het |
| Or5b105 |
A |
T |
19: 13,079,785 (GRCm39) |
D294E |
probably benign |
Het |
| Pilrb2 |
T |
A |
5: 137,869,175 (GRCm39) |
I142L |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,816,734 (GRCm39) |
S596P |
probably damaging |
Het |
| Sema5a |
G |
T |
15: 32,550,399 (GRCm39) |
S146I |
possibly damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc43a2 |
A |
T |
11: 75,453,957 (GRCm39) |
E290V |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACACTTGTAGGGTTTGTCTTC -3'
(R):5'- TCTCATCTTTGGCTCAACAGG -3'
Sequencing Primer
(F):5'- GCCACACTCTTCACACTTGTAAGG -3'
(R):5'- GAGTGTCATAAGGCCTTCAGTACTC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation