Incidental Mutation 'R3794:Zfp352'
| ID |
272681 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp352
|
| Ensembl Gene |
ENSMUSG00000070902 |
| Gene Name |
zinc finger protein 352 |
| Synonyms |
2czf48 |
| MMRRC Submission |
040756-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3794 (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% (37/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
C |
T |
15: 98,496,824 (GRCm39) |
V482I |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,431,486 (GRCm39) |
M1L |
probably damaging |
Het |
| Ceacam13 |
A |
G |
7: 17,747,340 (GRCm39) |
*264W |
probably null |
Het |
| Dennd5b |
A |
T |
6: 149,002,715 (GRCm39) |
D31E |
possibly damaging |
Het |
| Dip2c |
T |
C |
13: 9,654,597 (GRCm39) |
V706A |
probably damaging |
Het |
| Enpp3 |
T |
C |
10: 24,707,630 (GRCm39) |
|
probably null |
Het |
| Exoc4 |
T |
G |
6: 33,452,932 (GRCm39) |
V474G |
probably benign |
Het |
| F2rl1 |
A |
G |
13: 95,649,719 (GRCm39) |
Y388H |
unknown |
Het |
| Fasl |
T |
C |
1: 161,609,306 (GRCm39) |
R17G |
probably benign |
Het |
| Htr1a |
G |
A |
13: 105,580,852 (GRCm39) |
V31M |
possibly damaging |
Het |
| Inpp4b |
T |
C |
8: 82,759,845 (GRCm39) |
V445A |
probably damaging |
Het |
| Itih3 |
T |
C |
14: 30,640,351 (GRCm39) |
Y319C |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,419,261 (GRCm39) |
N476S |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,735,240 (GRCm39) |
|
probably benign |
Het |
| Mobp |
A |
T |
9: 119,997,033 (GRCm39) |
K55* |
probably null |
Het |
| Ndufaf5 |
T |
A |
2: 140,044,843 (GRCm39) |
M279K |
possibly damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,765,739 (GRCm39) |
I1057V |
probably benign |
Het |
| Or10al7 |
A |
G |
17: 38,365,786 (GRCm39) |
Y224H |
probably damaging |
Het |
| Or4c112 |
G |
T |
2: 88,853,770 (GRCm39) |
H192Q |
probably benign |
Het |
| Piezo2 |
C |
T |
18: 63,214,864 (GRCm39) |
R1257Q |
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 |
| Pon3 |
A |
G |
6: 5,221,578 (GRCm39) |
Y351H |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Scaf8 |
A |
G |
17: 3,240,524 (GRCm39) |
E632G |
probably damaging |
Het |
| Smurf1 |
A |
G |
5: 144,837,985 (GRCm39) |
|
probably null |
Het |
| Tex16 |
T |
G |
X: 111,150,375 (GRCm39) |
M1R |
probably null |
Het |
| Tln1 |
G |
T |
4: 43,536,295 (GRCm39) |
A1999D |
probably damaging |
Het |
| Trgv5 |
A |
T |
13: 19,376,694 (GRCm39) |
H47L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,772,781 (GRCm39) |
V2405I |
possibly damaging |
Het |
| Vps13d |
G |
A |
4: 144,812,007 (GRCm39) |
|
probably benign |
Het |
| Xrcc1 |
A |
G |
7: 24,269,985 (GRCm39) |
T469A |
probably benign |
Het |
| Zfp287 |
G |
T |
11: 62,605,070 (GRCm39) |
H612Q |
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 |
|
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 |
|
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'- TCGGCTTCCAGTTTAGTCCAG -3'
(R):5'- GTTCACAGAATTGTAGGTAGGAAAC -3'
Sequencing Primer
(F):5'- GCTTCCAGTTTAGTCCAGAGACAG -3'
(R):5'- GGAAACAATAAAGCTTTTTCAGGG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation