Incidental Mutation 'R4167:Zfp128'
ID |
320622 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp128
|
Ensembl Gene |
ENSMUSG00000060397 |
Gene Name |
zinc finger protein 128 |
Synonyms |
mZnf8, 9630016P15Rik |
MMRRC Submission |
041008-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.100)
|
Stock # |
R4167 (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: 99.3%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 96.0%
|
Validation Efficiency |
94% (31/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Casp6 |
A |
G |
3: 129,706,993 (GRCm39) |
H201R |
probably damaging |
Het |
Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
Cdh16 |
A |
G |
8: 105,344,362 (GRCm39) |
L59P |
probably benign |
Het |
Dcp2 |
T |
A |
18: 44,529,034 (GRCm39) |
Y50N |
probably damaging |
Het |
Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
Fam78b |
T |
C |
1: 166,829,301 (GRCm39) |
V51A |
possibly damaging |
Het |
Gabrb2 |
A |
T |
11: 42,312,155 (GRCm39) |
|
probably benign |
Het |
Glyctk |
G |
T |
9: 106,034,961 (GRCm39) |
A35E |
probably benign |
Het |
Kat14 |
A |
G |
2: 144,236,030 (GRCm39) |
E254G |
probably damaging |
Het |
Kcng1 |
T |
A |
2: 168,104,617 (GRCm39) |
S410C |
probably damaging |
Het |
Krt74 |
A |
G |
15: 101,667,304 (GRCm39) |
|
noncoding transcript |
Het |
Lrp12 |
T |
C |
15: 39,748,409 (GRCm39) |
T70A |
probably damaging |
Het |
Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
Mindy4 |
G |
A |
6: 55,201,331 (GRCm39) |
G339S |
possibly damaging |
Het |
Naip1 |
C |
T |
13: 100,580,794 (GRCm39) |
G151D |
probably benign |
Het |
Ndufaf7 |
G |
A |
17: 79,252,415 (GRCm39) |
V275I |
probably benign |
Het |
Nppb |
T |
A |
4: 148,071,431 (GRCm39) |
L121* |
probably null |
Het |
Oog2 |
A |
T |
4: 143,922,782 (GRCm39) |
Q349L |
probably benign |
Het |
Or5d39 |
T |
C |
2: 87,980,189 (GRCm39) |
H58R |
probably damaging |
Het |
Or5v1b |
T |
C |
17: 37,840,897 (GRCm39) |
S10P |
possibly damaging |
Het |
Pcdhgb8 |
T |
G |
18: 37,895,596 (GRCm39) |
V222G |
possibly damaging |
Het |
Plcd3 |
A |
T |
11: 102,969,290 (GRCm39) |
C226S |
probably damaging |
Het |
Plxdc2 |
A |
G |
2: 16,570,196 (GRCm39) |
E125G |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,332,069 (GRCm39) |
E2426G |
probably damaging |
Het |
Rraga |
T |
C |
4: 86,494,304 (GRCm39) |
V50A |
possibly damaging |
Het |
Scmh1 |
T |
C |
4: 120,386,473 (GRCm39) |
|
probably benign |
Het |
Slc9a9 |
A |
G |
9: 95,110,952 (GRCm39) |
Y590C |
probably damaging |
Het |
Snx20 |
C |
T |
8: 89,354,013 (GRCm39) |
R239Q |
probably benign |
Het |
Vmn2r59 |
A |
G |
7: 41,670,732 (GRCm39) |
|
probably benign |
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 |
R4168: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'- CCAGAGTAACTTGAATGACCCC -3'
(R):5'- AATTCTGATTGAAGGCCCTCC -3'
Sequencing Primer
(F):5'- GTAACTTGAATGACCCCAAAGAG -3'
(R):5'- ATTCGCTCATGTTGAACAAGGG -3'
|
Posted On |
2015-06-12 |