Incidental Mutation 'R4041:Zfp420'
| ID |
313880 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp420
|
| Ensembl Gene |
ENSMUSG00000058402 |
| Gene Name |
zinc finger protein 420 |
| Synonyms |
B230312I18Rik |
| MMRRC Submission |
040966-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4041 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29559404-29576717 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29575427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 549
(M549T)
|
| 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: M549T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000056077
Gene: ENSMUSG00000058402
AA Change: M549T
| 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: M549T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000074417
Gene: ENSMUSG00000058402
AA Change: M549T
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
100% (29/29) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atf5 |
T |
C |
7: 44,462,921 (GRCm39) |
T68A |
possibly damaging |
Het |
| Cage1 |
A |
G |
13: 38,203,153 (GRCm39) |
L637P |
possibly damaging |
Het |
| Cfl1 |
T |
C |
19: 5,542,556 (GRCm39) |
I12T |
probably benign |
Het |
| Clcn1 |
A |
G |
6: 42,286,902 (GRCm39) |
E653G |
probably damaging |
Het |
| Cntnap5a |
C |
A |
1: 116,112,129 (GRCm39) |
P473Q |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,120,655 (GRCm39) |
S91P |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,813,404 (GRCm39) |
Q2313R |
probably benign |
Het |
| Gpc5 |
A |
T |
14: 115,370,628 (GRCm39) |
Q151L |
probably damaging |
Het |
| Hexim1 |
A |
G |
11: 103,007,932 (GRCm39) |
E62G |
probably benign |
Het |
| Ifna13 |
A |
G |
4: 88,562,228 (GRCm39) |
F132S |
probably benign |
Het |
| Irgm2 |
A |
G |
11: 58,110,956 (GRCm39) |
M228V |
probably benign |
Het |
| Klhl41 |
A |
G |
2: 69,501,054 (GRCm39) |
M172V |
probably benign |
Het |
| Klk1 |
A |
T |
7: 43,878,986 (GRCm39) |
N260I |
probably damaging |
Het |
| Krit1 |
G |
C |
5: 3,859,642 (GRCm39) |
R110P |
probably damaging |
Het |
| Krt7 |
T |
A |
15: 101,321,161 (GRCm39) |
|
probably null |
Het |
| Lrrn4cl |
T |
A |
19: 8,829,468 (GRCm39) |
Y149N |
probably damaging |
Het |
| Ltbp3 |
G |
T |
19: 5,801,899 (GRCm39) |
C739F |
possibly damaging |
Het |
| Mbnl2 |
C |
T |
14: 120,626,486 (GRCm39) |
H239Y |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,942,357 (GRCm39) |
R4942* |
probably null |
Het |
| Or2bd2 |
T |
C |
7: 6,443,688 (GRCm39) |
L263P |
probably damaging |
Het |
| R3hcc1 |
A |
G |
14: 69,944,111 (GRCm39) |
S45P |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,785,356 (GRCm39) |
H1778Q |
possibly damaging |
Het |
| Scyl2 |
T |
A |
10: 89,485,914 (GRCm39) |
K558N |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,991,586 (GRCm39) |
V677M |
unknown |
Het |
| Slc39a5 |
T |
C |
10: 128,232,337 (GRCm39) |
M488V |
possibly damaging |
Het |
| Styk1 |
A |
T |
6: 131,289,880 (GRCm39) |
|
probably null |
Het |
| Styxl2 |
T |
C |
1: 165,927,680 (GRCm39) |
D644G |
probably benign |
Het |
| Usp32 |
A |
G |
11: 84,908,565 (GRCm39) |
V1047A |
probably benign |
Het |
| Wnt3a |
G |
T |
11: 59,140,470 (GRCm39) |
H349N |
probably damaging |
Het |
| Zbtb39 |
T |
C |
10: 127,579,423 (GRCm39) |
C666R |
probably 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 |
|
|
R0033:Zfp420
|
UTSW |
7 |
29,573,987 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTCCTTTATCCGTGGCTC -3'
(R):5'- TGCTGAATTCACAGTCCCATATTC -3'
Sequencing Primer
(F):5'- GAAGGCTTTTATCCGCAGTTCACAG -3'
(R):5'- CACAGTCCCATATTCACATTTGTAAG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation