Incidental Mutation 'R5167:Zfp352'
| ID |
397343 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp352
|
| Ensembl Gene |
ENSMUSG00000070902 |
| Gene Name |
zinc finger protein 352 |
| Synonyms |
2czf48 |
| MMRRC Submission |
042747-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5167 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
90218820-90225702 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90224216 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 198
(T198A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102746
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080541]
[ENSMUST00000107129]
|
| AlphaFold |
A2AML7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080541
AA Change: T198A
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000079383
Gene: ENSMUSG00000070902
AA Change: T198A
| 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 |
possibly damaging
Transcript: ENSMUST00000107129
AA Change: T198A
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102746
Gene: ENSMUSG00000070902
AA Change: T198A
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
97% (38/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
A |
5: 8,812,656 (GRCm38) |
Y113N |
probably damaging |
Het |
| Bcan |
G |
T |
3: 87,994,207 (GRCm38) |
S396Y |
probably damaging |
Het |
| Calm3 |
T |
C |
7: 16,917,701 (GRCm38) |
D21G |
probably damaging |
Het |
| Cldn23 |
C |
T |
8: 35,826,320 (GRCm38) |
V5M |
possibly damaging |
Het |
| D630003M21Rik |
A |
G |
2: 158,205,745 (GRCm38) |
S735P |
probably damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,717,432 (GRCm38) |
Y1095H |
probably damaging |
Het |
| Esr2 |
T |
C |
12: 76,123,274 (GRCm38) |
T427A |
probably benign |
Het |
| Fbxo28 |
T |
C |
1: 182,317,993 (GRCm38) |
I177V |
possibly damaging |
Het |
| Fubp1 |
T |
C |
3: 152,221,352 (GRCm38) |
L372P |
possibly damaging |
Het |
| Glis1 |
G |
A |
4: 107,634,694 (GRCm38) |
G585E |
probably damaging |
Het |
| Gm7258 |
T |
C |
7: 128,596,067 (GRCm38) |
|
noncoding transcript |
Het |
| Hecw1 |
C |
T |
13: 14,285,657 (GRCm38) |
R613Q |
probably damaging |
Het |
| Kif13b |
T |
C |
14: 64,772,935 (GRCm38) |
S1228P |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 119,070,031 (GRCm38) |
I738V |
probably damaging |
Het |
| Lig1 |
T |
A |
7: 13,311,058 (GRCm38) |
V892D |
probably damaging |
Het |
| Lvrn |
T |
A |
18: 46,880,747 (GRCm38) |
Y499N |
probably damaging |
Het |
| Ly9 |
C |
A |
1: 171,605,205 (GRCm38) |
W80L |
probably damaging |
Het |
| Lypd5 |
T |
C |
7: 24,352,464 (GRCm38) |
V68A |
possibly damaging |
Het |
| Ngdn |
C |
T |
14: 55,022,199 (GRCm38) |
Q236* |
probably null |
Het |
| Nudt7 |
C |
A |
8: 114,151,827 (GRCm38) |
C154* |
probably null |
Het |
| Olfr116 |
C |
A |
17: 37,623,751 (GRCm38) |
E295* |
probably null |
Het |
| Olfr1307 |
A |
T |
2: 111,945,102 (GRCm38) |
M118K |
probably damaging |
Het |
| Olfr1472 |
T |
A |
19: 13,454,377 (GRCm38) |
I47F |
probably damaging |
Het |
| Paxbp1 |
A |
G |
16: 91,022,667 (GRCm38) |
|
probably null |
Het |
| Pcnt |
G |
T |
10: 76,420,424 (GRCm38) |
Q661K |
probably damaging |
Het |
| Plekha1 |
G |
A |
7: 130,885,449 (GRCm38) |
|
probably null |
Het |
| Polr1c |
G |
T |
17: 46,247,709 (GRCm38) |
|
probably benign |
Het |
| Rac3 |
A |
G |
11: 120,722,595 (GRCm38) |
D58G |
probably null |
Het |
| Rgl2 |
C |
T |
17: 33,935,974 (GRCm38) |
R203* |
probably null |
Het |
| Rnf219 |
A |
G |
14: 104,478,787 (GRCm38) |
S717P |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 29,067,693 (GRCm38) |
D2948G |
probably damaging |
Het |
| Serpina12 |
A |
T |
12: 104,037,920 (GRCm38) |
L151Q |
probably damaging |
Het |
| Sf3a1 |
T |
C |
11: 4,177,456 (GRCm38) |
V594A |
possibly damaging |
Het |
| Spdl1 |
G |
T |
11: 34,813,360 (GRCm38) |
H549N |
possibly damaging |
Het |
| Srp68 |
C |
A |
11: 116,265,474 (GRCm38) |
E147D |
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 |
|
R4135:Zfp352
|
UTSW |
4 |
90,225,024 (GRCm38) |
missense |
probably damaging |
0.96 |
|
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 |
|
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'- AGGACACTGAACTCTGACAAG -3'
(R):5'- AGTTAGCTCTCATCTGAGGCTC -3'
Sequencing Primer
(F):5'- GGACACTGAACTCTGACAAGACTCTC -3'
(R):5'- GCTCTCATCTGAGGCTCATAGAAAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation