Incidental Mutation 'R0522:Zfp804b'
| ID |
48626 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp804b
|
| Ensembl Gene |
ENSMUSG00000092094 |
| Gene Name |
zinc finger protein 804B |
| Synonyms |
LOC207618 |
| MMRRC Submission |
038715-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R0522 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
6819030-7394378 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 6822014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 350
(T350S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164784]
[ENSMUST00000200317]
|
| AlphaFold |
A0A0G2JGH6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164784
AA Change: T314S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000130571
Gene: ENSMUSG00000092094
AA Change: T314S
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
20 |
44 |
4.81e0 |
SMART |
|
low complexity region
|
922 |
934 |
N/A |
INTRINSIC |
|
low complexity region
|
1119 |
1143 |
N/A |
INTRINSIC |
|
low complexity region
|
1160 |
1171 |
N/A |
INTRINSIC |
|
low complexity region
|
1179 |
1198 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200317
AA Change: T350S
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000143568
Gene: ENSMUSG00000092094
AA Change: T350S
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
56 |
80 |
2e-2 |
SMART |
|
low complexity region
|
958 |
970 |
N/A |
INTRINSIC |
|
low complexity region
|
1155 |
1179 |
N/A |
INTRINSIC |
|
low complexity region
|
1196 |
1207 |
N/A |
INTRINSIC |
|
low complexity region
|
1215 |
1234 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0608 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.8%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre5 |
A |
G |
8: 84,456,805 (GRCm39) |
I192T |
probably benign |
Het |
| Adgrl3 |
T |
C |
5: 81,874,648 (GRCm39) |
Y982H |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,676,561 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
T |
C |
6: 85,598,597 (GRCm39) |
V1610A |
probably benign |
Het |
| Ankrd24 |
T |
C |
10: 81,472,189 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
A |
G |
7: 100,044,429 (GRCm39) |
N337S |
probably benign |
Het |
| Cdc40 |
T |
C |
10: 40,733,608 (GRCm39) |
Y114C |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 36,815,957 (GRCm39) |
|
probably null |
Het |
| Cfc1 |
G |
A |
1: 34,576,234 (GRCm39) |
C98Y |
probably damaging |
Het |
| Cyp11b2 |
A |
T |
15: 74,723,533 (GRCm39) |
|
probably benign |
Het |
| Cyth4 |
C |
A |
15: 78,499,985 (GRCm39) |
H255Q |
possibly damaging |
Het |
| Degs1l |
A |
C |
1: 180,887,312 (GRCm39) |
D299A |
probably damaging |
Het |
| Dip2a |
T |
C |
10: 76,157,365 (GRCm39) |
K80R |
probably benign |
Het |
| Dnajb5 |
G |
T |
4: 42,957,083 (GRCm39) |
D257Y |
probably damaging |
Het |
| Dynll1 |
T |
C |
5: 115,438,565 (GRCm39) |
|
probably benign |
Het |
| Edn1 |
T |
A |
13: 42,458,430 (GRCm39) |
V81E |
probably damaging |
Het |
| F5 |
T |
C |
1: 164,039,332 (GRCm39) |
S1981P |
probably damaging |
Het |
| Fam186b |
T |
A |
15: 99,178,400 (GRCm39) |
M309L |
probably benign |
Het |
| Gm14221 |
G |
A |
2: 160,416,597 (GRCm39) |
|
noncoding transcript |
Het |
| Gnptab |
T |
A |
10: 88,267,328 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
AAGAGAGAGAGAGAGA |
AAGAGAGAGAGAGA |
16: 36,735,567 (GRCm39) |
|
probably null |
Het |
| Gpr176 |
A |
G |
2: 118,114,493 (GRCm39) |
C106R |
probably damaging |
Het |
| Hdac7 |
A |
T |
15: 97,704,560 (GRCm39) |
|
probably null |
Het |
| Hlx |
T |
C |
1: 184,463,837 (GRCm39) |
S168G |
probably damaging |
Het |
| Hnf1a |
G |
T |
5: 115,088,747 (GRCm39) |
|
probably benign |
Het |
| Hp1bp3 |
C |
T |
4: 137,949,472 (GRCm39) |
L19F |
possibly damaging |
Het |
| Hspa14 |
T |
A |
2: 3,512,086 (GRCm39) |
T63S |
probably damaging |
Het |
| Insrr |
C |
T |
3: 87,708,179 (GRCm39) |
S207F |
probably damaging |
Het |
| Jak3 |
C |
A |
8: 72,134,918 (GRCm39) |
|
probably benign |
Het |
| Jmjd7 |
G |
A |
2: 119,860,822 (GRCm39) |
A91T |
probably damaging |
Het |
| Lgals9 |
G |
T |
11: 78,856,638 (GRCm39) |
H265Q |
possibly damaging |
Het |
| Lrriq1 |
T |
G |
10: 102,997,638 (GRCm39) |
N1326H |
probably damaging |
Het |
| Mdn1 |
C |
A |
4: 32,672,837 (GRCm39) |
Q486K |
probably benign |
Het |
| Mpeg1 |
A |
G |
19: 12,439,123 (GRCm39) |
T194A |
probably damaging |
Het |
| Nek5 |
T |
A |
8: 22,578,813 (GRCm39) |
|
probably benign |
Het |
| Pcgf2 |
A |
C |
11: 97,582,873 (GRCm39) |
I135M |
probably benign |
Het |
| Phactr1 |
G |
T |
13: 43,213,067 (GRCm39) |
A222S |
probably benign |
Het |
| Pla2r1 |
T |
C |
2: 60,309,859 (GRCm39) |
S575G |
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,341,027 (GRCm39) |
|
probably null |
Het |
| Pold3 |
A |
G |
7: 99,770,590 (GRCm39) |
V14A |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,109,899 (GRCm39) |
|
probably benign |
Het |
| Poteg |
T |
G |
8: 27,939,986 (GRCm39) |
L48V |
possibly damaging |
Het |
| Prmt1 |
A |
T |
7: 44,631,203 (GRCm39) |
C50S |
probably benign |
Het |
| Prx |
T |
A |
7: 27,217,620 (GRCm39) |
V707E |
probably damaging |
Het |
| Rrp12 |
C |
T |
19: 41,863,144 (GRCm39) |
|
probably benign |
Het |
| Saxo1 |
A |
T |
4: 86,363,340 (GRCm39) |
V381E |
probably damaging |
Het |
| Sh2d2a |
T |
C |
3: 87,754,416 (GRCm39) |
|
probably null |
Het |
| Slc26a5 |
A |
C |
5: 22,051,343 (GRCm39) |
I57R |
probably damaging |
Het |
| Slc38a3 |
T |
A |
9: 107,532,412 (GRCm39) |
|
probably null |
Het |
| Slc5a4b |
T |
C |
10: 75,926,534 (GRCm39) |
T188A |
probably damaging |
Het |
| Slc7a13 |
A |
G |
4: 19,824,010 (GRCm39) |
I260V |
probably benign |
Het |
| Smg8 |
A |
T |
11: 86,977,288 (GRCm39) |
S98T |
probably benign |
Het |
| Spart |
T |
A |
3: 55,035,786 (GRCm39) |
S548R |
probably damaging |
Het |
| Sult6b1 |
C |
T |
17: 79,212,958 (GRCm39) |
G98S |
probably damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,649,806 (GRCm39) |
Y77H |
probably damaging |
Het |
| Tet2 |
T |
A |
3: 133,172,565 (GRCm39) |
D1899V |
probably damaging |
Het |
| Tmcc1 |
C |
CAT |
6: 116,019,831 (GRCm39) |
|
probably null |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Trp53bp1 |
C |
A |
2: 121,082,349 (GRCm39) |
A317S |
probably null |
Het |
| Uap1l1 |
T |
C |
2: 25,253,289 (GRCm39) |
E382G |
probably damaging |
Het |
| Ugt1a10 |
C |
T |
1: 88,145,971 (GRCm39) |
P473L |
probably damaging |
Het |
| Ugt1a9 |
T |
C |
1: 87,999,114 (GRCm39) |
V188A |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,519,416 (GRCm39) |
|
probably null |
Het |
| Xrcc6 |
T |
C |
15: 81,906,793 (GRCm39) |
|
probably benign |
Het |
| Zfp719 |
A |
G |
7: 43,238,677 (GRCm39) |
|
probably null |
Het |
| Zfp959 |
G |
T |
17: 56,203,201 (GRCm39) |
R61M |
probably null |
Het |
|
| Other mutations in Zfp804b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01085:Zfp804b
|
APN |
5 |
6,820,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01726:Zfp804b
|
APN |
5 |
7,230,707 (GRCm39) |
intron |
probably benign |
|
|
IGL02020:Zfp804b
|
APN |
5 |
6,819,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02567:Zfp804b
|
APN |
5 |
6,819,989 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02679:Zfp804b
|
APN |
5 |
6,821,392 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL03245:Zfp804b
|
APN |
5 |
6,822,253 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03352:Zfp804b
|
APN |
5 |
6,820,039 (GRCm39) |
missense |
probably benign |
0.45 |
|
Flush
|
UTSW |
5 |
6,820,217 (GRCm39) |
missense |
probably benign |
0.27 |
|
gozinta
|
UTSW |
5 |
6,820,153 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
healthy
|
UTSW |
5 |
6,820,013 (GRCm39) |
missense |
probably benign |
0.04 |
|
Paluka
|
UTSW |
5 |
6,820,534 (GRCm39) |
missense |
probably benign |
|
|
PIT4142001:Zfp804b
|
UTSW |
5 |
6,819,422 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0025:Zfp804b
|
UTSW |
5 |
6,821,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0044:Zfp804b
|
UTSW |
5 |
6,819,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0137:Zfp804b
|
UTSW |
5 |
6,820,534 (GRCm39) |
missense |
probably benign |
|
|
R0330:Zfp804b
|
UTSW |
5 |
6,821,994 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0330:Zfp804b
|
UTSW |
5 |
6,821,029 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1463:Zfp804b
|
UTSW |
5 |
7,229,372 (GRCm39) |
intron |
probably benign |
|
|
R1497:Zfp804b
|
UTSW |
5 |
6,821,105 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1511:Zfp804b
|
UTSW |
5 |
6,819,771 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1633:Zfp804b
|
UTSW |
5 |
7,229,513 (GRCm39) |
intron |
probably benign |
|
|
R1666:Zfp804b
|
UTSW |
5 |
6,821,323 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1668:Zfp804b
|
UTSW |
5 |
6,821,323 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1677:Zfp804b
|
UTSW |
5 |
7,229,533 (GRCm39) |
intron |
probably benign |
|
|
R1698:Zfp804b
|
UTSW |
5 |
6,819,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1716:Zfp804b
|
UTSW |
5 |
6,819,673 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1730:Zfp804b
|
UTSW |
5 |
6,821,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1747:Zfp804b
|
UTSW |
5 |
6,820,217 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1776:Zfp804b
|
UTSW |
5 |
6,819,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Zfp804b
|
UTSW |
5 |
6,821,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1804:Zfp804b
|
UTSW |
5 |
6,821,756 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1885:Zfp804b
|
UTSW |
5 |
6,820,376 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1887:Zfp804b
|
UTSW |
5 |
6,820,376 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1900:Zfp804b
|
UTSW |
5 |
6,819,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1929:Zfp804b
|
UTSW |
5 |
6,819,748 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2141:Zfp804b
|
UTSW |
5 |
6,822,583 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2181:Zfp804b
|
UTSW |
5 |
6,821,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2401:Zfp804b
|
UTSW |
5 |
6,819,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2408:Zfp804b
|
UTSW |
5 |
7,229,410 (GRCm39) |
intron |
probably benign |
|
|
R3237:Zfp804b
|
UTSW |
5 |
6,819,239 (GRCm39) |
missense |
probably benign |
|
|
R3429:Zfp804b
|
UTSW |
5 |
7,230,625 (GRCm39) |
intron |
probably benign |
|
|
R3785:Zfp804b
|
UTSW |
5 |
6,820,153 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4459:Zfp804b
|
UTSW |
5 |
6,821,481 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4460:Zfp804b
|
UTSW |
5 |
6,821,481 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4608:Zfp804b
|
UTSW |
5 |
6,822,584 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4762:Zfp804b
|
UTSW |
5 |
6,822,250 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4871:Zfp804b
|
UTSW |
5 |
6,926,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4910:Zfp804b
|
UTSW |
5 |
6,820,540 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4973:Zfp804b
|
UTSW |
5 |
6,821,198 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5199:Zfp804b
|
UTSW |
5 |
6,820,013 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5219:Zfp804b
|
UTSW |
5 |
6,820,703 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5411:Zfp804b
|
UTSW |
5 |
6,820,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6001:Zfp804b
|
UTSW |
5 |
6,819,043 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6041:Zfp804b
|
UTSW |
5 |
6,821,231 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6151:Zfp804b
|
UTSW |
5 |
6,819,910 (GRCm39) |
missense |
probably benign |
|
|
R6252:Zfp804b
|
UTSW |
5 |
6,819,478 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6283:Zfp804b
|
UTSW |
5 |
6,819,908 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6346:Zfp804b
|
UTSW |
5 |
6,820,534 (GRCm39) |
missense |
probably benign |
|
|
R6520:Zfp804b
|
UTSW |
5 |
6,819,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6714:Zfp804b
|
UTSW |
5 |
6,819,239 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6924:Zfp804b
|
UTSW |
5 |
6,819,902 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6966:Zfp804b
|
UTSW |
5 |
6,821,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7027:Zfp804b
|
UTSW |
5 |
6,820,372 (GRCm39) |
missense |
probably benign |
|
|
R7042:Zfp804b
|
UTSW |
5 |
6,820,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7076:Zfp804b
|
UTSW |
5 |
6,819,751 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7099:Zfp804b
|
UTSW |
5 |
6,822,161 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7574:Zfp804b
|
UTSW |
5 |
6,822,301 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7609:Zfp804b
|
UTSW |
5 |
6,820,066 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7654:Zfp804b
|
UTSW |
5 |
6,819,458 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7669:Zfp804b
|
UTSW |
5 |
6,819,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7717:Zfp804b
|
UTSW |
5 |
6,821,293 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7721:Zfp804b
|
UTSW |
5 |
6,821,263 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7830:Zfp804b
|
UTSW |
5 |
6,821,124 (GRCm39) |
missense |
probably benign |
|
|
R7937:Zfp804b
|
UTSW |
5 |
6,821,866 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7941:Zfp804b
|
UTSW |
5 |
6,820,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8093:Zfp804b
|
UTSW |
5 |
6,820,082 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8275:Zfp804b
|
UTSW |
5 |
6,822,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8714:Zfp804b
|
UTSW |
5 |
6,822,378 (GRCm39) |
nonsense |
probably null |
|
|
R8788:Zfp804b
|
UTSW |
5 |
6,822,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9206:Zfp804b
|
UTSW |
5 |
6,822,154 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9223:Zfp804b
|
UTSW |
5 |
6,821,496 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9276:Zfp804b
|
UTSW |
5 |
6,821,398 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9285:Zfp804b
|
UTSW |
5 |
6,820,723 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9534:Zfp804b
|
UTSW |
5 |
6,819,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Zfp804b
|
UTSW |
5 |
6,821,257 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCTGAAGACTTTGCTCTGGCCTC -3'
(R):5'- ACATGATTGTAGCAAGTCACCCACC -3'
Sequencing Primer
(F):5'- TGGCCTCCATTCTTGAGTTAG -3'
(R):5'- GAAGCTGTCCTTTCAGCAAG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation