Incidental Mutation 'R6041:Zfp804b'
| ID |
483539 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp804b
|
| Ensembl Gene |
ENSMUSG00000092094 |
| Gene Name |
zinc finger protein 804B |
| Synonyms |
LOC207618 |
| MMRRC Submission |
044209-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R6041 (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 6821231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 575
(R575G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130571
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164784]
[ENSMUST00000200317]
|
| AlphaFold |
A0A0G2JGH6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164784
AA Change: R575G
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000130571
Gene: ENSMUSG00000092094
AA Change: R575G
| 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: R611G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000143568
Gene: ENSMUSG00000092094
AA Change: R611G
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.1%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,595,354 (GRCm39) |
M297K |
probably damaging |
Het |
| Ace |
A |
C |
11: 105,866,134 (GRCm39) |
H34P |
probably benign |
Het |
| Agbl2 |
A |
T |
2: 90,638,371 (GRCm39) |
N652I |
probably benign |
Het |
| Auh |
T |
A |
13: 53,073,122 (GRCm39) |
L86F |
possibly damaging |
Het |
| Bmp10 |
A |
G |
6: 87,411,302 (GRCm39) |
K365R |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 29,764,314 (GRCm39) |
S2086T |
probably damaging |
Het |
| Calcoco1 |
C |
A |
15: 102,626,374 (GRCm39) |
R105L |
possibly damaging |
Het |
| Casc3 |
T |
G |
11: 98,719,385 (GRCm39) |
V509G |
probably damaging |
Het |
| Clmn |
A |
G |
12: 104,748,131 (GRCm39) |
V472A |
probably benign |
Het |
| Cyp2b19 |
A |
T |
7: 26,458,852 (GRCm39) |
S142C |
probably damaging |
Het |
| Derl3 |
T |
C |
10: 75,729,335 (GRCm39) |
L26P |
probably damaging |
Het |
| Dgkh |
C |
T |
14: 78,825,067 (GRCm39) |
A863T |
probably damaging |
Het |
| Dhx30 |
C |
T |
9: 109,913,666 (GRCm39) |
R1127Q |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,324,037 (GRCm39) |
S1116P |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,328,805 (GRCm39) |
V3179A |
probably benign |
Het |
| Dnajb11 |
A |
T |
16: 22,687,471 (GRCm39) |
N156I |
probably benign |
Het |
| Dpep1 |
A |
T |
8: 123,927,394 (GRCm39) |
E316V |
probably damaging |
Het |
| Entrep1 |
A |
T |
19: 23,962,193 (GRCm39) |
M270K |
probably benign |
Het |
| F2rl2 |
T |
A |
13: 95,837,617 (GRCm39) |
F221I |
probably benign |
Het |
| Flg2 |
T |
A |
3: 93,127,668 (GRCm39) |
D173E |
probably benign |
Het |
| Fshr |
A |
T |
17: 89,293,414 (GRCm39) |
D421E |
probably damaging |
Het |
| Gfm2 |
T |
A |
13: 97,309,131 (GRCm39) |
V612E |
probably benign |
Het |
| Gm17655 |
T |
G |
5: 110,195,439 (GRCm39) |
K114N |
possibly damaging |
Het |
| Gm45844 |
C |
A |
7: 7,281,183 (GRCm39) |
|
probably benign |
Het |
| Gpr142 |
A |
T |
11: 114,697,203 (GRCm39) |
I250F |
probably damaging |
Het |
| Hexa |
A |
G |
9: 59,470,519 (GRCm39) |
Q447R |
probably damaging |
Het |
| Leng8 |
T |
C |
7: 4,148,568 (GRCm39) |
L780P |
probably benign |
Het |
| Lrrk1 |
T |
C |
7: 65,911,881 (GRCm39) |
D1893G |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,407,641 (GRCm39) |
I139F |
probably damaging |
Het |
| Megf10 |
A |
T |
18: 57,313,621 (GRCm39) |
T22S |
probably benign |
Het |
| Mup-ps1 |
C |
A |
4: 60,088,549 (GRCm39) |
|
noncoding transcript |
Het |
| Myh13 |
A |
T |
11: 67,255,556 (GRCm39) |
E1642V |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,913,068 (GRCm39) |
Y1462H |
probably damaging |
Het |
| Nipbl |
T |
A |
15: 8,353,748 (GRCm39) |
D1765V |
probably damaging |
Het |
| Npy5r |
A |
T |
8: 67,134,675 (GRCm39) |
N39K |
possibly damaging |
Het |
| Or5m13b |
G |
A |
2: 85,753,735 (GRCm39) |
G41D |
probably damaging |
Het |
| Pax6 |
A |
G |
2: 105,514,247 (GRCm39) |
I29V |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,178,436 (GRCm39) |
Y307H |
probably benign |
Het |
| Pmf1 |
A |
C |
3: 88,303,358 (GRCm39) |
Y68D |
probably damaging |
Het |
| Psen2 |
C |
A |
1: 180,073,292 (GRCm39) |
E10* |
probably null |
Het |
| Ptprs |
T |
A |
17: 56,726,080 (GRCm39) |
M991L |
probably benign |
Het |
| R3hdm4 |
A |
G |
10: 79,749,495 (GRCm39) |
V20A |
possibly damaging |
Het |
| Rad17 |
T |
C |
13: 100,754,274 (GRCm39) |
N649D |
probably benign |
Het |
| Rad9b |
A |
T |
5: 122,489,415 (GRCm39) |
C38S |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,976,469 (GRCm39) |
M1296V |
probably benign |
Het |
| Rbp3 |
T |
C |
14: 33,678,439 (GRCm39) |
S796P |
probably damaging |
Het |
| Rpl10-ps3 |
A |
G |
9: 50,256,082 (GRCm39) |
S54P |
probably benign |
Het |
| Sclt1 |
T |
A |
3: 41,581,612 (GRCm39) |
I688F |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,438,535 (GRCm39) |
I1778T |
probably damaging |
Het |
| Scrib |
C |
T |
15: 75,939,021 (GRCm39) |
R159Q |
possibly damaging |
Het |
| Senp1 |
C |
T |
15: 97,956,097 (GRCm39) |
E441K |
probably damaging |
Het |
| Sipa1l1 |
T |
A |
12: 82,389,024 (GRCm39) |
F417I |
probably damaging |
Het |
| Slco1a7 |
A |
C |
6: 141,684,764 (GRCm39) |
D230E |
probably benign |
Het |
| Smcr8 |
A |
G |
11: 60,670,394 (GRCm39) |
D514G |
probably damaging |
Het |
| Tbc1d23 |
T |
G |
16: 56,993,513 (GRCm39) |
D551A |
probably benign |
Het |
| Tet1 |
G |
T |
10: 62,649,152 (GRCm39) |
T149N |
probably damaging |
Het |
| Them4 |
A |
T |
3: 94,224,806 (GRCm39) |
D61V |
possibly damaging |
Het |
| Trak1 |
A |
T |
9: 121,289,478 (GRCm39) |
I597F |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,206,864 (GRCm39) |
I1666V |
possibly damaging |
Het |
| Vipr2 |
A |
C |
12: 116,106,604 (GRCm39) |
N378T |
probably damaging |
Het |
| Zfp941 |
A |
T |
7: 140,392,158 (GRCm39) |
C400* |
probably null |
Het |
| Zswim5 |
A |
C |
4: 116,819,818 (GRCm39) |
S408R |
probably benign |
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 |
|
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'- TGGCTCCCCACTTGTAGAAG -3'
(R):5'- ATGACTCTGACTCTAGTGTAAGTG -3'
Sequencing Primer
(F):5'- GCAGGTATTTAAGCTTACACCTC -3'
(R):5'- GTGTAAGTGAACATGCTAGTCTACG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation