Incidental Mutation 'IGL00586:Zfp120'
ID |
7002 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp120
|
Ensembl Gene |
ENSMUSG00000068134 |
Gene Name |
zinc finger protein 120 |
Synonyms |
E030042N05Rik, MZF31 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
IGL00586
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
149956327-149978598 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 149961748 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 67
(I67V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114205
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089207]
[ENSMUST00000094538]
[ENSMUST00000109931]
[ENSMUST00000122859]
|
AlphaFold |
Q8BZW4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089207
AA Change: I67V
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000086615 Gene: ENSMUSG00000068134 AA Change: I67V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
KRAB
|
28 |
91 |
1.7e-17 |
SMART |
ZnF_C2H2
|
156 |
178 |
9.08e-4 |
SMART |
ZnF_C2H2
|
184 |
206 |
3.44e-4 |
SMART |
ZnF_C2H2
|
212 |
234 |
9.58e-3 |
SMART |
ZnF_C2H2
|
240 |
262 |
1.95e-3 |
SMART |
ZnF_C2H2
|
268 |
288 |
1.26e1 |
SMART |
ZnF_C2H2
|
296 |
318 |
4.17e-3 |
SMART |
ZnF_C2H2
|
324 |
346 |
5.29e-5 |
SMART |
ZnF_C2H2
|
352 |
374 |
1.4e-4 |
SMART |
ZnF_C2H2
|
408 |
430 |
2.71e-2 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094538
AA Change: I67V
PolyPhen 2
Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000092116 Gene: ENSMUSG00000068134 AA Change: I67V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
KRAB
|
28 |
89 |
1.01e-19 |
SMART |
ZnF_C2H2
|
134 |
156 |
9.08e-4 |
SMART |
ZnF_C2H2
|
162 |
184 |
3.44e-4 |
SMART |
ZnF_C2H2
|
190 |
212 |
9.58e-3 |
SMART |
ZnF_C2H2
|
218 |
240 |
1.95e-3 |
SMART |
ZnF_C2H2
|
246 |
266 |
1.26e1 |
SMART |
ZnF_C2H2
|
274 |
296 |
4.17e-3 |
SMART |
ZnF_C2H2
|
302 |
324 |
5.29e-5 |
SMART |
ZnF_C2H2
|
330 |
352 |
1.4e-4 |
SMART |
ZnF_C2H2
|
386 |
408 |
2.71e-2 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109931
AA Change: I67V
PolyPhen 2
Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000105557 Gene: ENSMUSG00000068134 AA Change: I67V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
KRAB
|
28 |
89 |
1.01e-19 |
SMART |
internal_repeat_1
|
96 |
130 |
3.31e-8 |
PROSPERO |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122859
AA Change: I67V
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000114205 Gene: ENSMUSG00000068134 AA Change: I67V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
KRAB
|
28 |
80 |
1.68e-16 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142792
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arl5b |
T |
C |
2: 15,074,746 (GRCm39) |
S76P |
probably benign |
Het |
Asap3 |
A |
C |
4: 135,933,879 (GRCm39) |
D17A |
probably damaging |
Het |
Ccdc24 |
C |
T |
4: 117,729,243 (GRCm39) |
R78H |
probably damaging |
Het |
Crp |
T |
C |
1: 172,526,568 (GRCm39) |
F218L |
probably benign |
Het |
Dab2 |
T |
C |
15: 6,459,306 (GRCm39) |
L385P |
probably benign |
Het |
Dip2c |
C |
A |
13: 9,660,791 (GRCm39) |
T855N |
probably damaging |
Het |
Dnai7 |
A |
T |
6: 145,137,302 (GRCm39) |
F269I |
possibly damaging |
Het |
Dync2i1 |
A |
T |
12: 116,205,400 (GRCm39) |
D396E |
probably benign |
Het |
Ep400 |
A |
G |
5: 110,887,460 (GRCm39) |
V541A |
probably damaging |
Het |
Gbgt1 |
A |
T |
2: 28,392,207 (GRCm39) |
|
probably null |
Het |
Gm6871 |
A |
T |
7: 41,195,845 (GRCm39) |
D297E |
possibly damaging |
Het |
Gpr107 |
T |
A |
2: 31,062,006 (GRCm39) |
F145I |
probably benign |
Het |
Itgb6 |
T |
G |
2: 60,450,696 (GRCm39) |
D581A |
probably benign |
Het |
Lce1a1 |
C |
T |
3: 92,554,470 (GRCm39) |
M1I |
probably null |
Het |
Lmbrd2 |
G |
A |
15: 9,157,382 (GRCm39) |
V207M |
probably damaging |
Het |
Muc5b |
T |
A |
7: 141,395,129 (GRCm39) |
V45E |
unknown |
Het |
Mybpc2 |
A |
G |
7: 44,154,806 (GRCm39) |
V977A |
probably damaging |
Het |
Oas1c |
T |
C |
5: 120,946,744 (GRCm39) |
T29A |
probably benign |
Het |
Pdzd2 |
G |
T |
15: 12,365,853 (GRCm39) |
|
probably null |
Het |
Plk2 |
T |
C |
13: 110,532,912 (GRCm39) |
Y158H |
possibly damaging |
Het |
Prss1l |
T |
C |
6: 41,373,049 (GRCm39) |
I107T |
probably damaging |
Het |
Ptprq |
A |
G |
10: 107,443,983 (GRCm39) |
|
probably benign |
Het |
Rnf17 |
C |
T |
14: 56,658,539 (GRCm39) |
T76I |
probably damaging |
Het |
Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
Sidt2 |
A |
G |
9: 45,854,350 (GRCm39) |
V624A |
possibly damaging |
Het |
Sin3b |
T |
C |
8: 73,483,628 (GRCm39) |
V1005A |
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,182,495 (GRCm39) |
V358A |
possibly damaging |
Het |
Zfp942 |
A |
T |
17: 22,147,605 (GRCm39) |
H341Q |
probably damaging |
Het |
|
Other mutations in Zfp120 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03033:Zfp120
|
APN |
2 |
149,961,794 (GRCm39) |
missense |
probably benign |
0.32 |
R0032:Zfp120
|
UTSW |
2 |
149,959,512 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0032:Zfp120
|
UTSW |
2 |
149,959,512 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1165:Zfp120
|
UTSW |
2 |
149,961,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R1965:Zfp120
|
UTSW |
2 |
149,959,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R1966:Zfp120
|
UTSW |
2 |
149,959,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R4418:Zfp120
|
UTSW |
2 |
149,960,105 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4902:Zfp120
|
UTSW |
2 |
149,961,440 (GRCm39) |
utr 3 prime |
probably benign |
|
R4910:Zfp120
|
UTSW |
2 |
149,959,872 (GRCm39) |
missense |
probably damaging |
0.96 |
R5108:Zfp120
|
UTSW |
2 |
149,961,862 (GRCm39) |
missense |
probably damaging |
0.98 |
R5521:Zfp120
|
UTSW |
2 |
149,959,499 (GRCm39) |
nonsense |
probably null |
|
R6280:Zfp120
|
UTSW |
2 |
149,959,964 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8389:Zfp120
|
UTSW |
2 |
149,959,327 (GRCm39) |
missense |
probably damaging |
1.00 |
R8530:Zfp120
|
UTSW |
2 |
149,959,168 (GRCm39) |
missense |
probably benign |
|
R8871:Zfp120
|
UTSW |
2 |
149,959,995 (GRCm39) |
missense |
probably benign |
0.00 |
R9281:Zfp120
|
UTSW |
2 |
149,959,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R9720:Zfp120
|
UTSW |
2 |
149,959,197 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2012-04-20 |