Incidental Mutation 'R0783:Zfp128'
| ID |
76720 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp128
|
| Ensembl Gene |
ENSMUSG00000060397 |
| Gene Name |
zinc finger protein 128 |
| Synonyms |
mZnf8, 9630016P15Rik |
| MMRRC Submission |
038963-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R0783 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12615105-12627349 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 12624199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 189
(P189L)
|
| 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 damaging
Transcript: ENSMUST00000144578
AA Change: P189L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000115378
Gene: ENSMUSG00000060397
AA Change: P189L
| 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 |
0.1014 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.2%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
G |
A |
7: 119,893,380 (GRCm39) |
G1277R |
probably damaging |
Het |
| Abi3bp |
A |
G |
16: 56,415,601 (GRCm39) |
|
probably null |
Het |
| Acsm2 |
G |
A |
7: 119,172,340 (GRCm39) |
G61D |
probably damaging |
Het |
| Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
| Bbs9 |
T |
C |
9: 22,479,010 (GRCm39) |
L151S |
possibly damaging |
Het |
| Camk2g |
T |
A |
14: 20,794,704 (GRCm39) |
T173S |
possibly damaging |
Het |
| Eif3b |
T |
C |
5: 140,405,592 (GRCm39) |
|
probably benign |
Het |
| Eif3i |
A |
C |
4: 129,485,869 (GRCm39) |
F319V |
possibly damaging |
Het |
| Eprs1 |
T |
C |
1: 185,130,655 (GRCm39) |
L672P |
probably damaging |
Het |
| Fam110d |
G |
A |
4: 133,979,368 (GRCm39) |
R37C |
probably damaging |
Het |
| Fras1 |
C |
T |
5: 96,916,289 (GRCm39) |
A3441V |
probably damaging |
Het |
| Gigyf2 |
T |
A |
1: 87,334,883 (GRCm39) |
M79K |
probably damaging |
Het |
| Hdac1 |
T |
C |
4: 129,411,902 (GRCm39) |
N331S |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,525,824 (GRCm39) |
G3300S |
probably damaging |
Het |
| Iars2 |
T |
C |
1: 185,053,071 (GRCm39) |
E400G |
probably damaging |
Het |
| Irx2 |
T |
C |
13: 72,780,769 (GRCm39) |
|
probably null |
Het |
| Itih4 |
G |
A |
14: 30,617,380 (GRCm39) |
E567K |
possibly damaging |
Het |
| Klhl5 |
T |
A |
5: 65,313,596 (GRCm39) |
|
probably benign |
Het |
| Klk1b8 |
G |
A |
7: 43,451,621 (GRCm39) |
G204E |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,517,680 (GRCm39) |
F1843L |
possibly damaging |
Het |
| Mllt6 |
T |
C |
11: 97,556,571 (GRCm39) |
V87A |
probably damaging |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Nhlrc3 |
A |
T |
3: 53,369,870 (GRCm39) |
S34T |
probably benign |
Het |
| Or10q1 |
T |
C |
19: 13,727,040 (GRCm39) |
L190P |
probably damaging |
Het |
| Or4c119 |
A |
T |
2: 88,987,235 (GRCm39) |
C95S |
probably benign |
Het |
| Or52b3 |
A |
G |
7: 102,203,646 (GRCm39) |
I52V |
probably benign |
Het |
| Or52s1 |
T |
C |
7: 102,861,877 (GRCm39) |
F259S |
probably damaging |
Het |
| Or5h25 |
A |
T |
16: 58,930,532 (GRCm39) |
L147* |
probably null |
Het |
| Or8h9 |
A |
G |
2: 86,788,906 (GRCm39) |
C299R |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,622,252 (GRCm39) |
W1074R |
probably damaging |
Het |
| Pcsk9 |
T |
C |
4: 106,307,314 (GRCm39) |
T310A |
probably benign |
Het |
| Pfas |
A |
G |
11: 68,891,347 (GRCm39) |
L250P |
probably damaging |
Het |
| Plk5 |
T |
A |
10: 80,196,964 (GRCm39) |
D352E |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,586,672 (GRCm39) |
|
probably benign |
Het |
| Serinc3 |
A |
G |
2: 163,478,923 (GRCm39) |
I68T |
possibly damaging |
Het |
| Sez6l2 |
A |
G |
7: 126,566,317 (GRCm39) |
T810A |
possibly damaging |
Het |
| Tmprss7 |
G |
A |
16: 45,487,969 (GRCm39) |
Q487* |
probably null |
Het |
| Tnf |
A |
G |
17: 35,420,650 (GRCm39) |
I56T |
probably damaging |
Het |
| Ttbk2 |
A |
T |
2: 120,570,458 (GRCm39) |
S1163T |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,573,874 (GRCm39) |
T23927I |
probably damaging |
Het |
| Urb1 |
G |
A |
16: 90,607,185 (GRCm39) |
A15V |
possibly damaging |
Het |
| Zfr |
T |
C |
15: 12,162,268 (GRCm39) |
V806A |
probably 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 |
|
|
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 |
|
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'- GCAAAGGCTGTTCCTTGTCGTTC -3'
(R):5'- AGGTATAAGGCTTCTCCCCAGTGTG -3'
Sequencing Primer
(F):5'- CGTTCTATGATAGGGATAGATCAGG -3'
(R):5'- caaaaagatttcccacattcatcac -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation