Incidental Mutation 'R0051:Zfp352'
ID |
192636 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp352
|
Ensembl Gene |
ENSMUSG00000070902 |
Gene Name |
zinc finger protein 352 |
Synonyms |
2czf48 |
MMRRC Submission |
038345-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0051 (G1)
|
Quality Score |
53 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
90107057-90113924 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 90112522 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 221
(S221P)
|
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: S221P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000079383 Gene: ENSMUSG00000070902 AA Change: S221P
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: S221P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000102746 Gene: ENSMUSG00000070902 AA Change: S221P
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 |
0.2332 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.8%
|
Validation Efficiency |
100% (64/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
A |
G |
7: 29,278,526 (GRCm39) |
|
noncoding transcript |
Het |
Abr |
T |
A |
11: 76,363,328 (GRCm39) |
Q163L |
probably benign |
Het |
Ankrd11 |
C |
A |
8: 123,616,481 (GRCm39) |
C2457F |
probably damaging |
Het |
Anks3 |
G |
C |
16: 4,765,613 (GRCm39) |
T163S |
probably benign |
Het |
Cacna1d |
G |
A |
14: 29,833,052 (GRCm39) |
P908S |
probably damaging |
Het |
Ccdc146 |
C |
A |
5: 21,521,902 (GRCm39) |
R374L |
possibly damaging |
Het |
Cdc45 |
G |
T |
16: 18,613,524 (GRCm39) |
A348E |
probably damaging |
Het |
Cfap46 |
A |
G |
7: 139,255,951 (GRCm39) |
C300R |
probably damaging |
Het |
Cimap1a |
C |
A |
7: 140,430,134 (GRCm39) |
|
probably benign |
Het |
Coq2 |
T |
C |
5: 100,811,551 (GRCm39) |
N146S |
probably benign |
Het |
Dalrd3 |
T |
C |
9: 108,449,414 (GRCm39) |
V120A |
possibly damaging |
Het |
Dcp2 |
T |
A |
18: 44,538,441 (GRCm39) |
|
probably benign |
Het |
Ddx39a |
A |
G |
8: 84,447,251 (GRCm39) |
K137R |
possibly damaging |
Het |
Diaph3 |
A |
G |
14: 87,274,890 (GRCm39) |
|
probably null |
Het |
Dmbt1 |
G |
T |
7: 130,721,225 (GRCm39) |
R1668L |
possibly damaging |
Het |
Dnah7a |
T |
G |
1: 53,560,245 (GRCm39) |
|
probably benign |
Het |
Dpp7 |
A |
G |
2: 25,246,107 (GRCm39) |
Y49H |
possibly damaging |
Het |
Drd5 |
A |
G |
5: 38,477,957 (GRCm39) |
S317G |
probably benign |
Het |
Ecpas |
A |
G |
4: 58,832,729 (GRCm39) |
L877S |
probably damaging |
Het |
Ecsit |
C |
T |
9: 21,987,584 (GRCm39) |
V152I |
probably benign |
Het |
Eeig1 |
G |
A |
2: 32,448,065 (GRCm39) |
R58Q |
possibly damaging |
Het |
Emc1 |
T |
A |
4: 139,102,474 (GRCm39) |
M923K |
possibly damaging |
Het |
Fcrl6 |
A |
T |
1: 172,426,320 (GRCm39) |
L159Q |
probably benign |
Het |
Frrs1 |
T |
C |
3: 116,678,946 (GRCm39) |
|
probably benign |
Het |
Hspd1 |
A |
G |
1: 55,121,205 (GRCm39) |
|
probably benign |
Het |
Impg2 |
T |
A |
16: 56,078,411 (GRCm39) |
S458T |
probably damaging |
Het |
Klf17 |
T |
C |
4: 117,617,589 (GRCm39) |
Y256C |
probably damaging |
Het |
Lnx2 |
A |
G |
5: 146,966,163 (GRCm39) |
F319L |
probably damaging |
Het |
Mafg |
G |
T |
11: 120,520,430 (GRCm39) |
R57S |
probably damaging |
Het |
Med13l |
T |
A |
5: 118,880,720 (GRCm39) |
W1271R |
probably damaging |
Het |
Mrgprb1 |
A |
G |
7: 48,096,962 (GRCm39) |
S24P |
probably benign |
Het |
Mtrf1l |
T |
C |
10: 5,763,384 (GRCm39) |
E315G |
probably damaging |
Het |
Naip1 |
T |
C |
13: 100,547,509 (GRCm39) |
E1239G |
probably damaging |
Het |
Ncaph2 |
T |
C |
15: 89,253,867 (GRCm39) |
S320P |
probably damaging |
Het |
Nek11 |
A |
G |
9: 105,095,738 (GRCm39) |
|
probably benign |
Het |
Nlrp2 |
A |
T |
7: 5,325,333 (GRCm39) |
|
probably benign |
Het |
Rbm26 |
A |
C |
14: 105,389,976 (GRCm39) |
V216G |
possibly damaging |
Het |
Rnf115 |
A |
G |
3: 96,692,338 (GRCm39) |
D178G |
probably damaging |
Het |
Rtel1 |
C |
T |
2: 180,992,449 (GRCm39) |
Q424* |
probably null |
Het |
Rwdd4a |
A |
G |
8: 47,990,400 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,699,420 (GRCm39) |
D890G |
probably damaging |
Het |
Scarb1 |
C |
A |
5: 125,358,164 (GRCm39) |
|
probably null |
Het |
Serpina10 |
A |
G |
12: 103,593,156 (GRCm39) |
|
probably benign |
Het |
Slc12a5 |
T |
A |
2: 164,828,583 (GRCm39) |
W508R |
probably damaging |
Het |
Slc43a2 |
T |
C |
11: 75,453,676 (GRCm39) |
C225R |
probably damaging |
Het |
Slc6a9 |
T |
C |
4: 117,722,056 (GRCm39) |
F440L |
probably damaging |
Het |
Stac3 |
G |
A |
10: 127,344,017 (GRCm39) |
R305H |
probably damaging |
Het |
Stk32b |
A |
G |
5: 37,616,940 (GRCm39) |
|
probably benign |
Het |
Syna |
A |
T |
5: 134,588,397 (GRCm39) |
L184H |
probably damaging |
Het |
Tmprss7 |
T |
C |
16: 45,494,302 (GRCm39) |
N401S |
probably damaging |
Het |
Tut4 |
T |
G |
4: 108,384,201 (GRCm39) |
S1089R |
probably damaging |
Het |
Yeats2 |
T |
A |
16: 20,012,474 (GRCm39) |
Y557* |
probably null |
Het |
Zfp575 |
A |
G |
7: 24,285,512 (GRCm39) |
V43A |
probably benign |
Het |
Zfp775 |
A |
G |
6: 48,597,706 (GRCm39) |
T527A |
probably benign |
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 |
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 |
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'- TGGGTCACGCCTTTGCTTCTGAAC -3'
(R):5'- CAAGCCAGGTTGTCTTCTGCACTG -3'
Sequencing Primer
(F):5'- TGCTTCTGAACATGACTGGAC -3'
(R):5'- CTGTAGCCTGATGTCTGATAACCAG -3'
|
Posted On |
2014-05-20 |