Incidental Mutation 'R0033:Zfp420'
| ID |
15333 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp420
|
| Ensembl Gene |
ENSMUSG00000058402 |
| Gene Name |
zinc finger protein 420 |
| Synonyms |
B230312I18Rik |
| MMRRC Submission |
038327-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0033 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29559404-29576717 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29573987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 69
(D69G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074417
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057652]
[ENSMUST00000074876]
|
| AlphaFold |
Q7TMN8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057652
AA Change: D69G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000056077
Gene: ENSMUSG00000058402
AA Change: D69G
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
29 |
51 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
57 |
79 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
85 |
107 |
6.88e-4 |
SMART |
|
ZnF_C2H2
|
113 |
135 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
141 |
163 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
169 |
191 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
197 |
219 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
225 |
247 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
253 |
275 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
281 |
303 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
309 |
331 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
337 |
359 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
365 |
387 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
393 |
415 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
421 |
443 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
449 |
471 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
477 |
499 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
505 |
527 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
533 |
555 |
1.22e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074876
AA Change: D69G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000074417
Gene: ENSMUSG00000058402
AA Change: D69G
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
29 |
51 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
57 |
79 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
85 |
107 |
6.88e-4 |
SMART |
|
ZnF_C2H2
|
113 |
135 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
141 |
163 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
169 |
191 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
197 |
219 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
225 |
247 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
253 |
275 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
281 |
303 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
309 |
331 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
337 |
359 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
365 |
387 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
393 |
415 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
421 |
443 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
449 |
471 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
477 |
499 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
505 |
527 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
533 |
555 |
1.22e-4 |
SMART |
|
Pfam:zf-C2H2_6
|
561 |
578 |
1.6e0 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130272
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145952
|
| Meta Mutation Damage Score |
0.0731 |
| Coding Region Coverage |
- 1x: 80.0%
- 3x: 71.7%
- 10x: 49.2%
- 20x: 29.7%
|
| Validation Efficiency |
96% (74/77) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a KRAB-type zinc finger protein that negatively-regulates p53-mediated apoptosis. Under stress conditions, the encoded protein is phosphorylated by ATM and dissociates from p53, which activates p53 and initiates apoptosis. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agr3 |
C |
T |
12: 35,978,329 (GRCm39) |
T14M |
possibly damaging |
Het |
| Aldh9a1 |
T |
C |
1: 167,184,140 (GRCm39) |
S212P |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,898,397 (GRCm39) |
|
probably benign |
Het |
| Cdkn3 |
C |
A |
14: 47,006,329 (GRCm39) |
Y141* |
probably null |
Het |
| Ceacam12 |
T |
G |
7: 17,803,385 (GRCm39) |
|
probably benign |
Het |
| Celf1 |
T |
C |
2: 90,831,798 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,729,967 (GRCm39) |
S1780P |
probably damaging |
Het |
| Cpxm2 |
T |
C |
7: 131,663,886 (GRCm39) |
I346V |
possibly damaging |
Het |
| Csf3r |
A |
G |
4: 125,925,677 (GRCm39) |
T151A |
probably benign |
Het |
| Ctss |
G |
A |
3: 95,452,888 (GRCm39) |
|
probably benign |
Het |
| Erp44 |
T |
C |
4: 48,241,289 (GRCm39) |
|
probably benign |
Het |
| Hibch |
A |
G |
1: 52,944,610 (GRCm39) |
K296R |
probably null |
Het |
| Katnip |
T |
G |
7: 125,360,999 (GRCm39) |
V103G |
possibly damaging |
Het |
| Kirrel3 |
A |
G |
9: 34,912,259 (GRCm39) |
I208V |
probably benign |
Het |
| Lrrc8a |
G |
T |
2: 30,145,357 (GRCm39) |
C57F |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,583,504 (GRCm39) |
N435D |
possibly damaging |
Het |
| Myo16 |
A |
T |
8: 10,420,955 (GRCm39) |
Y265F |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,867,979 (GRCm39) |
|
probably benign |
Het |
| Nlrp12 |
A |
C |
7: 3,289,037 (GRCm39) |
S492A |
probably damaging |
Het |
| Pwwp2b |
A |
T |
7: 138,834,844 (GRCm39) |
D95V |
possibly damaging |
Het |
| Rarg |
T |
A |
15: 102,147,270 (GRCm39) |
I372F |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,079,983 (GRCm39) |
I1920T |
probably damaging |
Het |
| Sv2b |
A |
G |
7: 74,767,489 (GRCm39) |
F636L |
probably benign |
Het |
| Thra |
G |
A |
11: 98,655,178 (GRCm39) |
V353I |
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,116,452 (GRCm39) |
|
probably benign |
Het |
| Tmx4 |
A |
T |
2: 134,442,918 (GRCm39) |
|
probably null |
Het |
| Tnfrsf12a |
A |
G |
17: 23,895,119 (GRCm39) |
|
probably null |
Het |
| Uba5 |
T |
A |
9: 103,931,347 (GRCm39) |
T241S |
probably benign |
Het |
| Zfp64 |
A |
T |
2: 168,767,635 (GRCm39) |
I659N |
possibly damaging |
Het |
|
| Other mutations in Zfp420 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00582:Zfp420
|
APN |
7 |
29,574,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00963:Zfp420
|
APN |
7 |
29,574,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02666:Zfp420
|
APN |
7 |
29,573,795 (GRCm39) |
missense |
probably benign |
|
|
IGL03267:Zfp420
|
APN |
7 |
29,574,908 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4585001:Zfp420
|
UTSW |
7 |
29,575,430 (GRCm39) |
missense |
probably benign |
|
|
R0282:Zfp420
|
UTSW |
7 |
29,575,105 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0659:Zfp420
|
UTSW |
7 |
29,574,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Zfp420
|
UTSW |
7 |
29,573,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Zfp420
|
UTSW |
7 |
29,573,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1894:Zfp420
|
UTSW |
7 |
29,573,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4041:Zfp420
|
UTSW |
7 |
29,575,427 (GRCm39) |
missense |
probably benign |
|
|
R4834:Zfp420
|
UTSW |
7 |
29,573,759 (GRCm39) |
start gained |
probably benign |
|
|
R6979:Zfp420
|
UTSW |
7 |
29,575,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7168:Zfp420
|
UTSW |
7 |
29,574,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8386:Zfp420
|
UTSW |
7 |
29,575,043 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9480:Zfp420
|
UTSW |
7 |
29,575,497 (GRCm39) |
missense |
probably benign |
|
|
R9574:Zfp420
|
UTSW |
7 |
29,575,480 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Zfp420
|
UTSW |
7 |
29,574,911 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
Z1186:Zfp420
|
UTSW |
7 |
29,574,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-17 |
Incidental Mutation