Incidental Mutation 'R3795:Zfp352'
ID |
272717 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp352
|
Ensembl Gene |
ENSMUSG00000070902 |
Gene Name |
zinc finger protein 352 |
Synonyms |
2czf48 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3795 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
90107057-90113924 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 90113386 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 509
(H509Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102746
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080541]
[ENSMUST00000107129]
|
AlphaFold |
A2AML7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080541
AA Change: H509Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000079383 Gene: ENSMUSG00000070902 AA Change: H509Y
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
459 |
483 |
3.34e-2 |
SMART |
ZnF_C2H2
|
489 |
513 |
8.22e-2 |
SMART |
ZnF_C2H2
|
519 |
542 |
1.76e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107129
AA Change: H509Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102746 Gene: ENSMUSG00000070902 AA Change: H509Y
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
459 |
483 |
3.34e-2 |
SMART |
ZnF_C2H2
|
489 |
513 |
8.22e-2 |
SMART |
ZnF_C2H2
|
519 |
542 |
1.76e-1 |
SMART |
|
Meta Mutation Damage Score |
0.1324 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
97% (32/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
T |
C |
5: 124,228,212 (GRCm39) |
T10A |
probably benign |
Het |
Adh1 |
T |
A |
3: 137,985,526 (GRCm39) |
L18H |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 37,084,714 (GRCm39) |
T426A |
probably benign |
Het |
Capn13 |
C |
A |
17: 73,644,387 (GRCm39) |
V381L |
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,778,735 (GRCm39) |
|
probably benign |
Het |
Cmas |
T |
A |
6: 142,713,594 (GRCm39) |
D206E |
probably benign |
Het |
Cntnap1 |
A |
G |
11: 101,077,590 (GRCm39) |
E1084G |
probably damaging |
Het |
Cpz |
A |
G |
5: 35,669,093 (GRCm39) |
V346A |
probably benign |
Het |
Dhrs3 |
A |
G |
4: 144,645,962 (GRCm39) |
D116G |
probably damaging |
Het |
Efcab3 |
A |
G |
11: 104,624,501 (GRCm39) |
E844G |
possibly damaging |
Het |
Inpp4b |
T |
C |
8: 82,759,845 (GRCm39) |
V445A |
probably damaging |
Het |
Katnip |
A |
G |
7: 125,419,261 (GRCm39) |
N476S |
probably benign |
Het |
Lhx2 |
T |
C |
2: 38,243,359 (GRCm39) |
C12R |
probably damaging |
Het |
Map3k2 |
T |
C |
18: 32,359,701 (GRCm39) |
M518T |
probably benign |
Het |
Mrc1 |
T |
A |
2: 14,293,793 (GRCm39) |
|
probably benign |
Het |
Nlrp4e |
T |
A |
7: 23,020,228 (GRCm39) |
D238E |
probably benign |
Het |
Obscn |
A |
G |
11: 58,922,667 (GRCm39) |
Y6543H |
probably damaging |
Het |
Pigv |
A |
G |
4: 133,392,502 (GRCm39) |
S223P |
possibly damaging |
Het |
Pkdcc |
A |
G |
17: 83,531,382 (GRCm39) |
T464A |
probably damaging |
Het |
Polr2k |
A |
G |
15: 36,175,193 (GRCm39) |
I18V |
probably damaging |
Het |
Psg20 |
A |
G |
7: 18,418,374 (GRCm39) |
V131A |
probably benign |
Het |
Ptpro |
T |
C |
6: 137,357,307 (GRCm39) |
F266S |
probably benign |
Het |
S100a7l2 |
T |
C |
3: 90,995,730 (GRCm39) |
I57M |
possibly damaging |
Het |
Sdk2 |
G |
A |
11: 113,747,522 (GRCm39) |
R663* |
probably null |
Het |
Szt2 |
G |
T |
4: 118,248,927 (GRCm39) |
L586I |
probably damaging |
Het |
Tln2 |
T |
C |
9: 67,163,197 (GRCm39) |
I1113V |
probably damaging |
Het |
Ube2ql1 |
G |
T |
13: 69,852,231 (GRCm39) |
A282E |
possibly damaging |
Het |
Vmn2r50 |
T |
A |
7: 9,771,851 (GRCm39) |
M617L |
probably benign |
Het |
Wdfy3 |
A |
G |
5: 102,085,466 (GRCm39) |
V676A |
probably damaging |
Het |
Wdr47 |
T |
C |
3: 108,532,053 (GRCm39) |
|
probably null |
Het |
Zbp1 |
T |
C |
2: 173,053,972 (GRCm39) |
H183R |
probably benign |
Het |
Zfp988 |
G |
A |
4: 147,416,040 (GRCm39) |
R158Q |
possibly damaging |
Het |
|
Other mutations in Zfp352 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01963:Zfp352
|
APN |
4 |
90,112,391 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02252:Zfp352
|
APN |
4 |
90,112,367 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03156:Zfp352
|
APN |
4 |
90,112,324 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL03167:Zfp352
|
APN |
4 |
90,112,939 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03190:Zfp352
|
APN |
4 |
90,111,994 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03335:Zfp352
|
APN |
4 |
90,112,583 (GRCm39) |
missense |
probably damaging |
0.99 |
R0051:Zfp352
|
UTSW |
4 |
90,112,522 (GRCm39) |
missense |
probably damaging |
0.99 |
R0403:Zfp352
|
UTSW |
4 |
90,113,246 (GRCm39) |
missense |
possibly damaging |
0.60 |
R0550:Zfp352
|
UTSW |
4 |
90,112,927 (GRCm39) |
missense |
probably damaging |
0.99 |
R0671:Zfp352
|
UTSW |
4 |
90,112,156 (GRCm39) |
missense |
probably benign |
|
R1034:Zfp352
|
UTSW |
4 |
90,112,393 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1754:Zfp352
|
UTSW |
4 |
90,112,046 (GRCm39) |
missense |
probably benign |
0.23 |
R2016:Zfp352
|
UTSW |
4 |
90,113,408 (GRCm39) |
missense |
probably benign |
0.42 |
R2064:Zfp352
|
UTSW |
4 |
90,113,357 (GRCm39) |
missense |
probably benign |
0.08 |
R2308:Zfp352
|
UTSW |
4 |
90,113,480 (GRCm39) |
missense |
probably benign |
0.00 |
R3552:Zfp352
|
UTSW |
4 |
90,113,339 (GRCm39) |
missense |
probably benign |
0.33 |
R3794:Zfp352
|
UTSW |
4 |
90,113,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R4135:Zfp352
|
UTSW |
4 |
90,113,261 (GRCm39) |
missense |
probably damaging |
0.96 |
R4356:Zfp352
|
UTSW |
4 |
90,112,071 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4409:Zfp352
|
UTSW |
4 |
90,113,401 (GRCm39) |
missense |
probably benign |
0.00 |
R4590:Zfp352
|
UTSW |
4 |
90,112,772 (GRCm39) |
missense |
probably damaging |
0.98 |
R4614:Zfp352
|
UTSW |
4 |
90,113,318 (GRCm39) |
missense |
probably benign |
0.00 |
R4617:Zfp352
|
UTSW |
4 |
90,113,318 (GRCm39) |
missense |
probably benign |
0.00 |
R4618:Zfp352
|
UTSW |
4 |
90,113,318 (GRCm39) |
missense |
probably benign |
0.00 |
R4741:Zfp352
|
UTSW |
4 |
90,113,177 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4931:Zfp352
|
UTSW |
4 |
90,112,541 (GRCm39) |
missense |
probably damaging |
0.98 |
R4959:Zfp352
|
UTSW |
4 |
90,112,376 (GRCm39) |
missense |
probably benign |
0.01 |
R4973:Zfp352
|
UTSW |
4 |
90,112,376 (GRCm39) |
missense |
probably benign |
0.01 |
R5167:Zfp352
|
UTSW |
4 |
90,112,453 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5260:Zfp352
|
UTSW |
4 |
90,112,697 (GRCm39) |
missense |
probably damaging |
0.99 |
R5524:Zfp352
|
UTSW |
4 |
90,113,341 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5942:Zfp352
|
UTSW |
4 |
90,113,307 (GRCm39) |
missense |
probably damaging |
0.98 |
R6802:Zfp352
|
UTSW |
4 |
90,113,437 (GRCm39) |
missense |
probably benign |
0.33 |
R6819:Zfp352
|
UTSW |
4 |
90,112,936 (GRCm39) |
missense |
probably benign |
|
R7072:Zfp352
|
UTSW |
4 |
90,112,661 (GRCm39) |
missense |
probably benign |
0.00 |
R7099:Zfp352
|
UTSW |
4 |
90,113,117 (GRCm39) |
missense |
probably benign |
0.00 |
R7569:Zfp352
|
UTSW |
4 |
90,111,896 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7645:Zfp352
|
UTSW |
4 |
90,113,014 (GRCm39) |
missense |
probably benign |
0.13 |
R7705:Zfp352
|
UTSW |
4 |
90,113,512 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8424:Zfp352
|
UTSW |
4 |
90,112,480 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9180:Zfp352
|
UTSW |
4 |
90,113,118 (GRCm39) |
missense |
probably benign |
0.38 |
R9378:Zfp352
|
UTSW |
4 |
90,112,575 (GRCm39) |
missense |
probably benign |
0.13 |
R9509:Zfp352
|
UTSW |
4 |
90,112,943 (GRCm39) |
missense |
probably damaging |
0.99 |
R9623:Zfp352
|
UTSW |
4 |
90,113,128 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAGACTTCAAGACCCAGAGCC -3'
(R):5'- GTTCACAGAATTGTAGGTAGGAAAC -3'
Sequencing Primer
(F):5'- TGTGTCACAGAAGGACCCTAGTC -3'
(R):5'- GGAAACAATAAAGCTTTTTCAGGG -3'
|
Posted On |
2015-03-25 |