Incidental Mutation 'R4135:Zfp352'
| ID |
314838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp352
|
| Ensembl Gene |
ENSMUSG00000070902 |
| Gene Name |
zinc finger protein 352 |
| Synonyms |
2czf48 |
| MMRRC Submission |
040995-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4135 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
90218820-90225702 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 90225024 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 467
(T467M)
|
| 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: T467M
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000079383
Gene: ENSMUSG00000070902
AA Change: T467M
| 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: T467M
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102746
Gene: ENSMUSG00000070902
AA Change: T467M
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
T |
A |
1: 160,077,522 (GRCm38) |
|
probably benign |
Het |
| Bak1 |
T |
A |
17: 27,021,270 (GRCm38) |
T148S |
possibly damaging |
Het |
| Cdc25a |
C |
A |
9: 109,881,517 (GRCm38) |
H157Q |
possibly damaging |
Het |
| Chst5 |
T |
C |
8: 111,890,184 (GRCm38) |
Y268C |
probably damaging |
Het |
| Csnk1g2 |
T |
C |
10: 80,638,296 (GRCm38) |
I145T |
possibly damaging |
Het |
| Ctsr |
T |
C |
13: 61,161,270 (GRCm38) |
T224A |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,307,896 (GRCm38) |
K921E |
probably damaging |
Het |
| Dcaf12l1 |
T |
C |
X: 44,789,453 (GRCm38) |
N156S |
probably damaging |
Het |
| Dennd2d |
T |
A |
3: 106,482,661 (GRCm38) |
D2E |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,714,501 (GRCm38) |
K264E |
possibly damaging |
Het |
| Eif3c |
C |
G |
7: 126,566,299 (GRCm38) |
|
probably benign |
Het |
| Gabrb3 |
G |
T |
7: 57,591,288 (GRCm38) |
A5S |
probably benign |
Het |
| Gcnt2 |
T |
A |
13: 40,887,807 (GRCm38) |
N147K |
probably damaging |
Het |
| Gm6987 |
T |
A |
X: 94,024,610 (GRCm38) |
|
noncoding transcript |
Het |
| Hbp1 |
A |
T |
12: 31,934,422 (GRCm38) |
L262Q |
probably damaging |
Het |
| Hsd11b2 |
T |
C |
8: 105,523,166 (GRCm38) |
V303A |
probably benign |
Het |
| Htr5a |
A |
G |
5: 27,842,692 (GRCm38) |
M82V |
probably benign |
Het |
| Mcc |
T |
C |
18: 44,724,640 (GRCm38) |
D136G |
probably benign |
Het |
| Mrpl32 |
C |
T |
13: 14,612,979 (GRCm38) |
V14M |
probably damaging |
Het |
| Msl1 |
A |
G |
11: 98,796,300 (GRCm38) |
D157G |
possibly damaging |
Het |
| Mthfd1 |
G |
A |
12: 76,282,874 (GRCm38) |
|
probably null |
Het |
| Nkx6-1 |
T |
A |
5: 101,659,505 (GRCm38) |
D337V |
probably damaging |
Het |
| Nlrp5 |
T |
C |
7: 23,418,398 (GRCm38) |
W516R |
possibly damaging |
Het |
| Or2ag1 |
A |
G |
7: 106,714,003 (GRCm38) |
L226P |
probably damaging |
Het |
| Or2l13b |
T |
A |
16: 19,530,702 (GRCm38) |
I73F |
possibly damaging |
Het |
| Or2y3 |
A |
G |
17: 38,082,357 (GRCm38) |
V207A |
possibly damaging |
Het |
| Or4l1 |
T |
C |
14: 49,928,815 (GRCm38) |
H243R |
probably damaging |
Het |
| Or5af1 |
C |
A |
11: 58,831,994 (GRCm38) |
T280K |
probably damaging |
Het |
| Pate5 |
A |
G |
9: 35,839,428 (GRCm38) |
S33P |
possibly damaging |
Het |
| Pold3 |
T |
A |
7: 100,100,647 (GRCm38) |
R104* |
probably null |
Het |
| Rapsn |
A |
T |
2: 91,036,817 (GRCm38) |
N155Y |
probably damaging |
Het |
| Rorc |
C |
A |
3: 94,389,519 (GRCm38) |
Q269K |
probably damaging |
Het |
| Rreb1 |
A |
T |
13: 37,947,123 (GRCm38) |
N1418Y |
probably damaging |
Het |
| Rusc2 |
G |
A |
4: 43,425,563 (GRCm38) |
D1223N |
possibly damaging |
Het |
| Sema6d |
T |
C |
2: 124,664,120 (GRCm38) |
I616T |
probably damaging |
Het |
| Ttc6 |
T |
A |
12: 57,632,795 (GRCm38) |
|
probably benign |
Het |
| Ugt3a2 |
A |
T |
15: 9,338,724 (GRCm38) |
Y58F |
probably damaging |
Het |
| Vmn2r129 |
T |
G |
4: 156,338,790 (GRCm38) |
|
noncoding transcript |
Het |
| Vwa5b1 |
A |
T |
4: 138,594,330 (GRCm38) |
M384K |
possibly damaging |
Het |
| Washc3 |
G |
A |
10: 88,219,280 (GRCm38) |
E111K |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,525,397 (GRCm38) |
S3501G |
probably benign |
Het |
| Zfp1004 |
A |
T |
2: 150,181,868 (GRCm38) |
|
probably benign |
Het |
| Zfp729a |
C |
A |
13: 67,619,806 (GRCm38) |
C768F |
probably damaging |
Het |
| Zfp810 |
T |
C |
9: 22,279,073 (GRCm38) |
K180E |
probably damaging |
Het |
|
| Other mutations in Zfp352 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01963:Zfp352
|
APN |
4 |
90,224,154 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02252:Zfp352
|
APN |
4 |
90,224,130 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL03156:Zfp352
|
APN |
4 |
90,224,087 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
IGL03167:Zfp352
|
APN |
4 |
90,224,702 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03190:Zfp352
|
APN |
4 |
90,223,757 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL03335:Zfp352
|
APN |
4 |
90,224,346 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0051:Zfp352
|
UTSW |
4 |
90,224,285 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0403:Zfp352
|
UTSW |
4 |
90,225,009 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R0550:Zfp352
|
UTSW |
4 |
90,224,690 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0671:Zfp352
|
UTSW |
4 |
90,223,919 (GRCm38) |
missense |
probably benign |
|
|
R1034:Zfp352
|
UTSW |
4 |
90,224,156 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1754:Zfp352
|
UTSW |
4 |
90,223,809 (GRCm38) |
missense |
probably benign |
0.23 |
|
R2016:Zfp352
|
UTSW |
4 |
90,225,171 (GRCm38) |
missense |
probably benign |
0.42 |
|
R2064:Zfp352
|
UTSW |
4 |
90,225,120 (GRCm38) |
missense |
probably benign |
0.08 |
|
R2308:Zfp352
|
UTSW |
4 |
90,225,243 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3552:Zfp352
|
UTSW |
4 |
90,225,102 (GRCm38) |
missense |
probably benign |
0.33 |
|
R3794:Zfp352
|
UTSW |
4 |
90,225,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3795:Zfp352
|
UTSW |
4 |
90,225,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4356:Zfp352
|
UTSW |
4 |
90,223,834 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4409:Zfp352
|
UTSW |
4 |
90,225,164 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4590:Zfp352
|
UTSW |
4 |
90,224,535 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4614:Zfp352
|
UTSW |
4 |
90,225,081 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4617:Zfp352
|
UTSW |
4 |
90,225,081 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4618:Zfp352
|
UTSW |
4 |
90,225,081 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4741:Zfp352
|
UTSW |
4 |
90,224,940 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4931:Zfp352
|
UTSW |
4 |
90,224,304 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4959:Zfp352
|
UTSW |
4 |
90,224,139 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4973:Zfp352
|
UTSW |
4 |
90,224,139 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5167:Zfp352
|
UTSW |
4 |
90,224,216 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5260:Zfp352
|
UTSW |
4 |
90,224,460 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5524:Zfp352
|
UTSW |
4 |
90,225,104 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5942:Zfp352
|
UTSW |
4 |
90,225,070 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6802:Zfp352
|
UTSW |
4 |
90,225,200 (GRCm38) |
missense |
probably benign |
0.33 |
|
R6819:Zfp352
|
UTSW |
4 |
90,224,699 (GRCm38) |
missense |
probably benign |
|
|
R7072:Zfp352
|
UTSW |
4 |
90,224,424 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7099:Zfp352
|
UTSW |
4 |
90,224,880 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7569:Zfp352
|
UTSW |
4 |
90,223,659 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R7645:Zfp352
|
UTSW |
4 |
90,224,777 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7705:Zfp352
|
UTSW |
4 |
90,225,275 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8424:Zfp352
|
UTSW |
4 |
90,224,243 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R9180:Zfp352
|
UTSW |
4 |
90,224,881 (GRCm38) |
missense |
probably benign |
0.38 |
|
R9378:Zfp352
|
UTSW |
4 |
90,224,338 (GRCm38) |
missense |
probably benign |
0.13 |
|
R9509:Zfp352
|
UTSW |
4 |
90,224,706 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9623:Zfp352
|
UTSW |
4 |
90,224,891 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAAGCCTTGATCCTCAGGTG -3'
(R):5'- AGGGACAAGCGTAGAACCTC -3'
Sequencing Primer
(F):5'- CAAGCTCCATATGTGGGTGAATCC -3'
(R):5'- AGCGTAGAACCTCTCACCATTGTG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation