Incidental Mutation 'R7645:Zfp352'
| ID |
590471 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp352
|
| Ensembl Gene |
ENSMUSG00000070902 |
| Gene Name |
zinc finger protein 352 |
| Synonyms |
2czf48 |
| MMRRC Submission |
045701-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7645 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
90107057-90113924 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 90113014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 385
(P385S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102746
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080541]
[ENSMUST00000107129]
|
| AlphaFold |
A2AML7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080541
AA Change: P385S
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000079383
Gene: ENSMUSG00000070902
AA Change: P385S
| 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 benign
Transcript: ENSMUST00000107129
AA Change: P385S
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000102746
Gene: ENSMUSG00000070902
AA Change: P385S
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (46/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
T |
A |
13: 111,392,789 (GRCm39) |
C375S |
probably benign |
Het |
| Adgrg3 |
A |
G |
8: 95,761,392 (GRCm39) |
|
probably benign |
Het |
| Amn1 |
C |
T |
6: 149,086,529 (GRCm39) |
M44I |
probably benign |
Het |
| Atg2b |
T |
C |
12: 105,589,689 (GRCm39) |
Y1854C |
probably benign |
Het |
| Bcat2 |
T |
A |
7: 45,237,387 (GRCm39) |
N290K |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,879,318 (GRCm39) |
|
probably null |
Het |
| Cnot10 |
T |
C |
9: 114,442,705 (GRCm39) |
S501G |
probably benign |
Het |
| Col6a6 |
A |
G |
9: 105,644,397 (GRCm39) |
|
probably null |
Het |
| Coq2 |
A |
C |
5: 100,808,116 (GRCm39) |
C228W |
probably damaging |
Het |
| Cpt2 |
A |
T |
4: 107,764,171 (GRCm39) |
M531K |
possibly damaging |
Het |
| Dennd1a |
A |
G |
2: 37,911,375 (GRCm39) |
L204P |
probably damaging |
Het |
| Dock9 |
C |
T |
14: 121,835,075 (GRCm39) |
V1305M |
probably benign |
Het |
| Dusp16 |
A |
G |
6: 134,702,888 (GRCm39) |
I201T |
probably damaging |
Het |
| Esco2 |
T |
C |
14: 66,064,630 (GRCm39) |
D370G |
probably benign |
Het |
| Fbxl4 |
T |
C |
4: 22,377,037 (GRCm39) |
S158P |
probably damaging |
Het |
| Fut10 |
A |
G |
8: 31,726,232 (GRCm39) |
H329R |
possibly damaging |
Het |
| Gpr3 |
A |
G |
4: 132,938,640 (GRCm39) |
W11R |
probably damaging |
Het |
| H2-M3 |
T |
A |
17: 37,581,620 (GRCm39) |
I94N |
probably damaging |
Het |
| Krt7 |
T |
C |
15: 101,310,524 (GRCm39) |
I57T |
probably damaging |
Het |
| Ltc4s |
T |
C |
11: 50,129,373 (GRCm39) |
|
probably benign |
Het |
| Ms4a6b |
A |
T |
19: 11,501,304 (GRCm39) |
T105S |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,234,923 (GRCm39) |
H592R |
probably benign |
Het |
| Ncam1 |
T |
C |
9: 49,476,303 (GRCm39) |
E262G |
probably benign |
Het |
| Or4x11 |
T |
A |
2: 89,868,091 (GRCm39) |
I276K |
possibly damaging |
Het |
| Or5b108 |
T |
C |
19: 13,168,937 (GRCm39) |
V302A |
probably benign |
Het |
| Plxnb1 |
T |
A |
9: 108,943,480 (GRCm39) |
S1908T |
probably damaging |
Het |
| Polg2 |
A |
T |
11: 106,666,419 (GRCm39) |
M242K |
probably benign |
Het |
| Polr3g |
T |
C |
13: 81,842,563 (GRCm39) |
T151A |
unknown |
Het |
| Pramel51 |
T |
C |
12: 88,143,028 (GRCm39) |
T392A |
probably damaging |
Het |
| Psmb8 |
T |
C |
17: 34,419,186 (GRCm39) |
L160P |
possibly damaging |
Het |
| Rab5b |
G |
A |
10: 128,517,260 (GRCm39) |
A176V |
possibly damaging |
Het |
| Rreb1 |
T |
C |
13: 38,115,010 (GRCm39) |
C790R |
probably damaging |
Het |
| Rufy3 |
A |
G |
5: 88,788,476 (GRCm39) |
T506A |
probably benign |
Het |
| Samd11 |
T |
C |
4: 156,340,243 (GRCm39) |
|
probably benign |
Het |
| Slc12a2 |
T |
C |
18: 58,029,450 (GRCm39) |
F279L |
possibly damaging |
Het |
| Slc49a4 |
T |
A |
16: 35,554,438 (GRCm39) |
|
probably null |
Het |
| Son |
TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,183 (GRCm39) |
|
probably benign |
Het |
| Srgn |
C |
T |
10: 62,330,757 (GRCm39) |
W116* |
probably null |
Het |
| Svil |
A |
G |
18: 5,099,663 (GRCm39) |
E1733G |
probably damaging |
Het |
| Tbc1d22a |
C |
T |
15: 86,119,742 (GRCm39) |
P49S |
probably benign |
Het |
| Tbc1d9 |
A |
T |
8: 83,969,182 (GRCm39) |
K490M |
probably damaging |
Het |
| Tcte1 |
A |
G |
17: 45,845,915 (GRCm39) |
N173S |
probably benign |
Het |
| Tmco6 |
C |
T |
18: 36,868,446 (GRCm39) |
R31W |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,730,025 (GRCm39) |
A5155S |
unknown |
Het |
| Tyro3 |
T |
C |
2: 119,647,387 (GRCm39) |
Y839H |
probably damaging |
Het |
| Zc3h12d |
A |
G |
10: 7,743,340 (GRCm39) |
D370G |
probably benign |
Het |
| Zc3h7b |
T |
C |
15: 81,664,803 (GRCm39) |
L554P |
probably 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 |
|
R3795: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 |
|
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'- GTGAATCCTCAGGTGACAAGTC -3'
(R):5'- AGTCTAACTTCATCTCTGGATGC -3'
Sequencing Primer
(F):5'- TCCTCAGGTGACAAGTCCAATTGG -3'
(R):5'- CTGTCTCTGGACTAAACTGGAAGC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation