Incidental Mutation 'R2896:Zfp456'
| ID |
260799 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp456
|
| Ensembl Gene |
ENSMUSG00000078995 |
| Gene Name |
zinc finger protein 456 |
| Synonyms |
Rslcan-13 |
| MMRRC Submission |
040484-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R2896 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
67511700-67523872 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67515416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 97
(R97G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057070]
[ENSMUST00000166080]
[ENSMUST00000172266]
[ENSMUST00000225787]
|
| AlphaFold |
B2RUK9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057070
AA Change: R97G
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000059686
Gene: ENSMUSG00000078995
AA Change: R97G
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225787
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd14b |
C |
T |
9: 106,327,313 (GRCm39) |
R32C |
probably benign |
Het |
| Bpifb4 |
T |
G |
2: 153,796,357 (GRCm39) |
|
probably benign |
Het |
| Cachd1 |
T |
A |
4: 100,828,100 (GRCm39) |
L616Q |
probably damaging |
Het |
| Cmklr2 |
T |
A |
1: 63,222,321 (GRCm39) |
I305L |
probably benign |
Het |
| Crebbp |
A |
G |
16: 3,956,680 (GRCm39) |
L381P |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Esp6 |
T |
A |
17: 40,873,834 (GRCm39) |
M7K |
possibly damaging |
Het |
| Fam83d |
G |
A |
2: 158,627,898 (GRCm39) |
R529Q |
probably damaging |
Het |
| Gm26526 |
T |
G |
7: 39,238,437 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8374 |
T |
A |
14: 18,537,084 (GRCm39) |
R47* |
probably null |
Het |
| Gss |
A |
G |
2: 155,406,749 (GRCm39) |
L342P |
probably damaging |
Het |
| Ighv1-67 |
T |
A |
12: 115,567,595 (GRCm39) |
T106S |
probably damaging |
Het |
| Kif21b |
T |
C |
1: 136,081,955 (GRCm39) |
Y668H |
possibly damaging |
Het |
| Lcmt1 |
A |
G |
7: 123,020,809 (GRCm39) |
R245G |
possibly damaging |
Het |
| Lpar6 |
A |
G |
14: 73,476,716 (GRCm39) |
K226E |
probably damaging |
Het |
| Or11h23 |
T |
C |
14: 50,947,973 (GRCm39) |
F62S |
probably damaging |
Het |
| Pcdh19 |
TGTCTCCTCCACGTC |
TGTC |
X: 132,582,058 (GRCm39) |
|
probably null |
Het |
| Pdcl |
A |
T |
2: 37,245,702 (GRCm39) |
D100E |
possibly damaging |
Het |
| Phkg1 |
C |
A |
5: 129,893,471 (GRCm39) |
K326N |
possibly damaging |
Het |
| Ppp4r3c1 |
A |
G |
X: 88,976,005 (GRCm39) |
M64T |
possibly damaging |
Het |
| Prss1 |
G |
A |
6: 41,440,639 (GRCm39) |
W238* |
probably null |
Het |
| Rdh10 |
A |
T |
1: 16,176,329 (GRCm39) |
|
probably null |
Het |
| Ror1 |
T |
C |
4: 99,953,477 (GRCm39) |
L21P |
unknown |
Het |
| Skint8 |
A |
G |
4: 111,807,333 (GRCm39) |
I340V |
probably null |
Het |
| Spata18 |
T |
C |
5: 73,815,145 (GRCm39) |
S85P |
probably damaging |
Het |
| Stard6 |
G |
A |
18: 70,609,459 (GRCm39) |
V33I |
probably benign |
Het |
| Ttll3 |
G |
T |
6: 113,369,683 (GRCm39) |
A76S |
probably benign |
Het |
| Ttll4 |
T |
A |
1: 74,724,517 (GRCm39) |
H562Q |
possibly damaging |
Het |
| Ubn1 |
A |
G |
16: 4,873,083 (GRCm39) |
H35R |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,182,955 (GRCm39) |
|
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 |
|
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 |
|
|
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 |
|
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'- TCGCCTGAGAGATGAAGATGA -3'
(R):5'- ACAGGCATTGAAATATACTGTGGATTT -3'
Sequencing Primer
(F):5'- GAGGGGAAAGTCTTTTCACACAATC -3'
(R):5'- GCTTAACTTTTGTTCATATC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation