Incidental Mutation 'R8386:Zfp420'
| ID |
647156 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp420
|
| Ensembl Gene |
ENSMUSG00000058402 |
| Gene Name |
zinc finger protein 420 |
| Synonyms |
B230312I18Rik |
| MMRRC Submission |
067752-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8386 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
29559404-29576717 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29575043 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 421
(Y421F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056077
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057652]
[ENSMUST00000074876]
|
| AlphaFold |
Q7TMN8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057652
AA Change: Y421F
PolyPhen 2
Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000056077
Gene: ENSMUSG00000058402
AA Change: Y421F
| 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: Y421F
PolyPhen 2
Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000074417
Gene: ENSMUSG00000058402
AA Change: Y421F
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
G |
T |
11: 110,021,518 (GRCm39) |
A1064D |
probably damaging |
Het |
| Adgb |
A |
G |
10: 10,226,048 (GRCm39) |
I1390T |
probably damaging |
Het |
| Aktip |
G |
A |
8: 91,857,674 (GRCm39) |
R13C |
probably benign |
Het |
| Arnt2 |
T |
A |
7: 83,996,747 (GRCm39) |
I71F |
probably damaging |
Het |
| Casr |
T |
A |
16: 36,335,950 (GRCm39) |
I120F |
probably damaging |
Het |
| Cilp |
G |
A |
9: 65,186,286 (GRCm39) |
G794S |
probably damaging |
Het |
| Cntnap1 |
A |
T |
11: 101,073,029 (GRCm39) |
R544S |
probably damaging |
Het |
| Cse1l |
T |
C |
2: 166,761,604 (GRCm39) |
S53P |
probably benign |
Het |
| Cyfip1 |
T |
C |
7: 55,527,488 (GRCm39) |
S207P |
probably damaging |
Het |
| Fam120b |
G |
A |
17: 15,643,246 (GRCm39) |
S675N |
probably benign |
Het |
| Fcna |
C |
T |
2: 25,516,027 (GRCm39) |
W163* |
probably null |
Het |
| Gast |
A |
G |
11: 100,227,691 (GRCm39) |
D91G |
probably damaging |
Het |
| Igkv6-14 |
T |
C |
6: 70,411,966 (GRCm39) |
Y106C |
probably damaging |
Het |
| Lin28b |
A |
G |
10: 45,345,140 (GRCm39) |
V62A |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,701,655 (GRCm39) |
S757T |
unknown |
Het |
| Ms4a15 |
A |
T |
19: 10,970,546 (GRCm39) |
C3S |
unknown |
Het |
| Muc5ac |
G |
A |
7: 141,361,371 (GRCm39) |
V1561I |
possibly damaging |
Het |
| Ndufb11b |
C |
T |
15: 81,864,830 (GRCm39) |
L24F |
probably damaging |
Het |
| Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or5p70 |
TTTCTTCTTCT |
TTTCTTCT |
7: 107,994,555 (GRCm39) |
|
probably benign |
Het |
| Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
| Ppp1r3c |
T |
C |
19: 36,711,338 (GRCm39) |
D144G |
probably damaging |
Het |
| Setd1b |
T |
A |
5: 123,282,319 (GRCm39) |
V149D |
unknown |
Het |
| Shcbp1 |
A |
C |
8: 4,817,951 (GRCm39) |
W115G |
probably damaging |
Het |
| Shroom1 |
A |
T |
11: 53,357,230 (GRCm39) |
K631M |
probably damaging |
Het |
| Sipa1l2 |
A |
T |
8: 126,218,832 (GRCm39) |
S168R |
probably damaging |
Het |
| Slc12a4 |
A |
T |
8: 106,678,250 (GRCm39) |
N314K |
probably damaging |
Het |
| Syngap1 |
T |
A |
17: 27,179,465 (GRCm39) |
M755K |
possibly damaging |
Het |
| Tnik |
A |
G |
3: 28,317,823 (GRCm39) |
D11G |
unknown |
Het |
| Trim80 |
A |
G |
11: 115,335,900 (GRCm39) |
D274G |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,460,403 (GRCm39) |
T2555A |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,678,483 (GRCm39) |
|
probably null |
Het |
| Wnt7a |
C |
T |
6: 91,343,270 (GRCm39) |
G204D |
probably damaging |
Het |
| Zfp882 |
A |
G |
8: 72,667,962 (GRCm39) |
H263R |
probably benign |
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 |
|
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 |
|
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'- CCGGGGCTCAGAACTTACT -3'
(R):5'- TGAGACTCACGTGTAAAGGC -3'
Sequencing Primer
(F):5'- GGGCTCAGAACTTACTCAGCATG -3'
(R):5'- GAACTCTGAGTGAAGGCCTTTCTAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation