Incidental Mutation 'R4168:Zfp128'
| ID |
320657 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp128
|
| Ensembl Gene |
ENSMUSG00000060397 |
| Gene Name |
zinc finger protein 128 |
| Synonyms |
mZnf8, 9630016P15Rik |
| MMRRC Submission |
041009-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R4168 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12615105-12627349 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12624289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 219
(D219G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000144578]
|
| AlphaFold |
Q8BGV5 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000081891
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144578
AA Change: D219G
PolyPhen 2
Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000115378
Gene: ENSMUSG00000060397
AA Change: D219G
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
25 |
85 |
2.51e-38 |
SMART |
|
ZnF_C2H2
|
254 |
276 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
282 |
304 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
310 |
332 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
338 |
360 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
366 |
388 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
394 |
416 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
464 |
486 |
3.39e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
98% (39/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C3 |
A |
T |
17: 57,525,608 (GRCm39) |
F883I |
probably benign |
Het |
| Cbr4 |
T |
A |
8: 61,944,555 (GRCm39) |
|
probably benign |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Chpf2 |
T |
C |
5: 24,796,788 (GRCm39) |
V578A |
possibly damaging |
Het |
| Clasrp |
A |
G |
7: 19,315,079 (GRCm39) |
|
probably benign |
Het |
| Cmip |
A |
T |
8: 118,183,656 (GRCm39) |
N743I |
probably damaging |
Het |
| Ctif |
A |
C |
18: 75,770,286 (GRCm39) |
L33R |
probably damaging |
Het |
| Dmap1 |
T |
A |
4: 117,538,507 (GRCm39) |
H54L |
possibly damaging |
Het |
| Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
T |
C |
7: 27,836,534 (GRCm39) |
L151P |
probably benign |
Het |
| Flt4 |
G |
A |
11: 49,521,400 (GRCm39) |
R440H |
probably benign |
Het |
| Gabrb2 |
A |
T |
11: 42,312,155 (GRCm39) |
|
probably benign |
Het |
| Gm12789 |
A |
G |
4: 101,847,159 (GRCm39) |
Y148C |
possibly damaging |
Het |
| Haspin |
A |
G |
11: 73,026,848 (GRCm39) |
L747P |
probably damaging |
Het |
| Intu |
C |
T |
3: 40,627,053 (GRCm39) |
P278L |
probably benign |
Het |
| Kif27 |
A |
G |
13: 58,493,562 (GRCm39) |
I127T |
probably benign |
Het |
| Mogat1 |
T |
C |
1: 78,488,672 (GRCm39) |
V25A |
possibly damaging |
Het |
| Nop14 |
A |
G |
5: 34,814,088 (GRCm39) |
S157P |
probably damaging |
Het |
| Or5al6 |
A |
G |
2: 85,976,523 (GRCm39) |
I185T |
probably benign |
Het |
| Or5d39 |
T |
C |
2: 87,980,189 (GRCm39) |
H58R |
probably damaging |
Het |
| Or5k3 |
A |
T |
16: 58,969,363 (GRCm39) |
Y50F |
probably benign |
Het |
| Oxct2b |
T |
C |
4: 123,011,478 (GRCm39) |
L466P |
probably damaging |
Het |
| Padi6 |
A |
G |
4: 140,469,245 (GRCm39) |
C32R |
probably damaging |
Het |
| Pla2r1 |
A |
T |
2: 60,327,958 (GRCm39) |
Y501* |
probably null |
Het |
| Rb1cc1 |
G |
A |
1: 6,300,248 (GRCm39) |
V8I |
probably damaging |
Het |
| Rexo5 |
A |
G |
7: 119,426,621 (GRCm39) |
|
probably benign |
Het |
| Slco1a7 |
T |
C |
6: 141,684,673 (GRCm39) |
I261V |
probably benign |
Het |
| Tmem119 |
T |
C |
5: 113,933,048 (GRCm39) |
E251G |
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,069 (GRCm39) |
M249K |
probably benign |
Het |
| Zc2hc1a |
A |
G |
3: 7,583,451 (GRCm39) |
T41A |
probably benign |
Het |
| Znrf2 |
T |
C |
6: 54,840,945 (GRCm39) |
V173A |
possibly damaging |
Het |
|
| Other mutations in Zfp128 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01140:Zfp128
|
APN |
7 |
12,624,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01293:Zfp128
|
APN |
7 |
12,625,351 (GRCm39) |
makesense |
probably null |
|
|
IGL02067:Zfp128
|
APN |
7 |
12,618,977 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02146:Zfp128
|
APN |
7 |
12,623,959 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02654:Zfp128
|
APN |
7 |
12,618,606 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03066:Zfp128
|
APN |
7 |
12,624,044 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03076:Zfp128
|
APN |
7 |
12,618,636 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03113:Zfp128
|
APN |
7 |
12,624,314 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03237:Zfp128
|
APN |
7 |
12,624,953 (GRCm39) |
missense |
probably benign |
0.28 |
|
prayer
|
UTSW |
7 |
12,624,563 (GRCm39) |
nonsense |
probably null |
|
|
R0783:Zfp128
|
UTSW |
7 |
12,624,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1686:Zfp128
|
UTSW |
7 |
12,624,563 (GRCm39) |
nonsense |
probably null |
|
|
R1806:Zfp128
|
UTSW |
7 |
12,624,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2021:Zfp128
|
UTSW |
7 |
12,623,956 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R3792:Zfp128
|
UTSW |
7 |
12,618,659 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4105:Zfp128
|
UTSW |
7 |
12,618,667 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4167:Zfp128
|
UTSW |
7 |
12,624,289 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5743:Zfp128
|
UTSW |
7 |
12,618,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6266:Zfp128
|
UTSW |
7 |
12,624,897 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6799:Zfp128
|
UTSW |
7 |
12,624,826 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7102:Zfp128
|
UTSW |
7 |
12,624,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7313:Zfp128
|
UTSW |
7 |
12,624,461 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7428:Zfp128
|
UTSW |
7 |
12,624,289 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7504:Zfp128
|
UTSW |
7 |
12,624,405 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7539:Zfp128
|
UTSW |
7 |
12,624,479 (GRCm39) |
nonsense |
probably null |
|
|
R7636:Zfp128
|
UTSW |
7 |
12,624,039 (GRCm39) |
missense |
probably benign |
|
|
R7755:Zfp128
|
UTSW |
7 |
12,624,240 (GRCm39) |
nonsense |
probably null |
|
|
R7820:Zfp128
|
UTSW |
7 |
12,624,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8269:Zfp128
|
UTSW |
7 |
12,624,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8932:Zfp128
|
UTSW |
7 |
12,625,113 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9361:Zfp128
|
UTSW |
7 |
12,624,364 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9381:Zfp128
|
UTSW |
7 |
12,624,897 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGAGTAACTTGAATGACCC -3'
(R):5'- ATTCTGATTGAAGGCCCTCC -3'
Sequencing Primer
(F):5'- GTAACTTGAATGACCCCAAAGAG -3'
(R):5'- ATTCGCTCATGTTGAACAAGGG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation