Incidental Mutation 'R8093:Zfp804b'
| ID |
629983 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp804b
|
| Ensembl Gene |
ENSMUSG00000092094 |
| Gene Name |
zinc finger protein 804B |
| Synonyms |
LOC207618 |
| MMRRC Submission |
067525-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R8093 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
6819030-7394378 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6820082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 994
(K994E)
|
| 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: K958E
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000130571
Gene: ENSMUSG00000092094
AA Change: K958E
| 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: K994E
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000143568
Gene: ENSMUSG00000092094
AA Change: K994E
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 98.3%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
T |
16: 4,669,368 (GRCm39) |
T745S |
possibly damaging |
Het |
| Abca12 |
T |
C |
1: 71,319,552 (GRCm39) |
I1777V |
probably benign |
Het |
| Abhd6 |
T |
C |
14: 8,028,353 (GRCm38) |
L28P |
probably damaging |
Het |
| Angpt1 |
T |
A |
15: 42,339,873 (GRCm39) |
E279D |
probably benign |
Het |
| Arfgef2 |
A |
G |
2: 166,736,577 (GRCm39) |
M1750V |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,817,908 (GRCm39) |
F821L |
probably benign |
Het |
| Cbx3 |
A |
G |
6: 51,458,748 (GRCm39) |
E71G |
possibly damaging |
Het |
| Ccdc14 |
G |
A |
16: 34,530,022 (GRCm39) |
A482T |
probably damaging |
Het |
| Cdh15 |
G |
T |
8: 123,593,574 (GRCm39) |
A723S |
probably damaging |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,054 (GRCm39) |
S488G |
probably damaging |
Het |
| Ddx55 |
C |
A |
5: 124,694,883 (GRCm39) |
H104N |
possibly damaging |
Het |
| Det1 |
G |
T |
7: 78,493,257 (GRCm39) |
T249N |
possibly damaging |
Het |
| Disp3 |
A |
G |
4: 148,354,973 (GRCm39) |
S348P |
possibly damaging |
Het |
| Dnah6 |
T |
G |
6: 73,137,896 (GRCm39) |
N936T |
probably damaging |
Het |
| Dnajc11 |
A |
T |
4: 152,054,357 (GRCm39) |
N188Y |
probably damaging |
Het |
| Etaa1 |
G |
A |
11: 17,897,559 (GRCm39) |
T186I |
possibly damaging |
Het |
| Fhip1a |
T |
C |
3: 85,580,111 (GRCm39) |
D698G |
probably benign |
Het |
| Ftl1-ps1 |
T |
A |
13: 74,555,138 (GRCm39) |
V139E |
probably benign |
Het |
| Fzd10 |
A |
G |
5: 128,679,303 (GRCm39) |
K341R |
probably benign |
Het |
| Galnt7 |
A |
G |
8: 57,985,739 (GRCm39) |
Y544H |
probably benign |
Het |
| Gm21190 |
T |
A |
5: 15,730,814 (GRCm39) |
I181F |
possibly damaging |
Het |
| Gm3604 |
T |
C |
13: 62,517,363 (GRCm39) |
N332D |
probably damaging |
Het |
| Gm47996 |
G |
T |
1: 151,086,055 (GRCm39) |
E45D |
possibly damaging |
Het |
| Gm5475 |
T |
A |
15: 100,321,893 (GRCm39) |
L14Q |
unknown |
Het |
| Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gpr182 |
T |
C |
10: 127,586,783 (GRCm39) |
Y56C |
probably damaging |
Het |
| Gxylt2 |
T |
A |
6: 100,710,188 (GRCm39) |
W110R |
probably damaging |
Het |
| Hivep3 |
G |
T |
4: 119,952,632 (GRCm39) |
R316L |
possibly damaging |
Het |
| Hnf1a |
T |
C |
5: 115,093,336 (GRCm39) |
T310A |
probably benign |
Het |
| Igkv6-32 |
A |
G |
6: 70,051,547 (GRCm39) |
F8L |
probably benign |
Het |
| Kcnq1 |
A |
G |
7: 142,916,389 (GRCm39) |
N550D |
probably damaging |
Het |
| Lrrc40 |
T |
G |
3: 157,757,419 (GRCm39) |
Y249* |
probably null |
Het |
| Lrrc43 |
T |
A |
5: 123,639,192 (GRCm39) |
M407K |
probably benign |
Het |
| Map2k6 |
A |
C |
11: 110,373,411 (GRCm39) |
E21D |
probably benign |
Het |
| Mcoln1 |
T |
A |
8: 3,558,740 (GRCm39) |
I246N |
possibly damaging |
Het |
| Msantd5f6 |
A |
T |
4: 73,321,759 (GRCm39) |
V92E |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,079,536 (GRCm39) |
K998E |
probably damaging |
Het |
| Myo1b |
C |
T |
1: 51,797,034 (GRCm39) |
|
probably null |
Het |
| Numbl |
T |
A |
7: 26,980,461 (GRCm39) |
M481K |
possibly damaging |
Het |
| Nxpe4 |
G |
T |
9: 48,307,852 (GRCm39) |
V319F |
probably benign |
Het |
| Pam |
C |
A |
1: 97,813,357 (GRCm39) |
D358Y |
probably damaging |
Het |
| Papola |
A |
G |
12: 105,775,836 (GRCm39) |
M251V |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,965,593 (GRCm39) |
R59* |
probably null |
Het |
| Prelid2 |
A |
G |
18: 42,065,700 (GRCm39) |
S112P |
probably damaging |
Het |
| Ptgfrn |
T |
C |
3: 100,963,753 (GRCm39) |
T620A |
probably benign |
Het |
| Ptgfrn |
C |
T |
3: 100,980,257 (GRCm39) |
R361Q |
probably benign |
Het |
| Pygm |
T |
A |
19: 6,436,072 (GRCm39) |
M148K |
probably damaging |
Het |
| Ren1 |
T |
A |
1: 133,287,812 (GRCm39) |
I382N |
probably damaging |
Het |
| Rev1 |
T |
C |
1: 38,114,097 (GRCm39) |
|
probably benign |
Het |
| Sdsl |
T |
C |
5: 120,598,017 (GRCm39) |
K159E |
probably benign |
Het |
| Serinc4 |
T |
C |
2: 121,285,434 (GRCm39) |
N203S |
possibly damaging |
Het |
| Slc12a2 |
A |
G |
18: 58,012,423 (GRCm39) |
H182R |
probably benign |
Het |
| Sned1 |
C |
A |
1: 93,202,387 (GRCm39) |
T677K |
possibly damaging |
Het |
| Ston2 |
G |
A |
12: 91,710,460 (GRCm39) |
T3I |
probably damaging |
Het |
| Tnf |
T |
C |
17: 35,420,072 (GRCm39) |
T77A |
probably benign |
Het |
| Trav6-2 |
G |
A |
14: 52,905,126 (GRCm39) |
G49E |
probably benign |
Het |
| Trav7-4 |
A |
T |
14: 53,699,140 (GRCm39) |
I96F |
probably damaging |
Het |
| Trmu |
T |
A |
15: 85,766,921 (GRCm39) |
D43E |
probably benign |
Het |
| Uggt1 |
T |
A |
1: 36,266,566 (GRCm39) |
Q136L |
probably damaging |
Het |
| Ugt1a5 |
T |
A |
1: 88,094,304 (GRCm39) |
Y177* |
probably null |
Het |
| Vmn1r126 |
T |
C |
7: 21,034,516 (GRCm39) |
R293G |
probably damaging |
Het |
| Vmn2r89 |
A |
G |
14: 51,693,699 (GRCm39) |
I350V |
probably benign |
Het |
| Vps11 |
A |
T |
9: 44,267,529 (GRCm39) |
L361Q |
probably damaging |
Het |
| Zfp467 |
A |
G |
6: 48,420,366 (GRCm39) |
L5P |
possibly damaging |
Het |
| Zfp652 |
A |
G |
11: 95,640,288 (GRCm39) |
H71R |
probably damaging |
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 |
|
R0522:Zfp804b
|
UTSW |
5 |
6,822,014 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
|
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'- CTGGGTCATAGCTTTGAAGAAAAGG -3'
(R):5'- CCAAGAAGTGTCAGGAGCAATC -3'
Sequencing Primer
(F):5'- GCTTTGAAGAAAAGGTTGGACTTC -3'
(R):5'- TGTCAGGAGCAATCAACGAAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation