Incidental Mutation 'R6520:Zfp804b'
ID |
521101 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp804b
|
Ensembl Gene |
ENSMUSG00000092094 |
Gene Name |
zinc finger protein 804B |
Synonyms |
LOC207618 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R6520 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
6819030-7394378 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 6819283 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 1260
(H1260L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143568
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164784]
[ENSMUST00000200317]
|
AlphaFold |
A0A0G2JGH6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164784
AA Change: H1224L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000130571 Gene: ENSMUSG00000092094 AA Change: H1224L
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 damaging
Transcript: ENSMUST00000200317
AA Change: H1260L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000143568 Gene: ENSMUSG00000092094 AA Change: H1260L
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 |
0.2284 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
T |
C |
11: 23,467,285 (GRCm39) |
D116G |
possibly damaging |
Het |
Adam22 |
C |
T |
5: 8,166,635 (GRCm39) |
V699M |
probably damaging |
Het |
Adh7 |
A |
G |
3: 137,929,771 (GRCm39) |
Y149C |
probably damaging |
Het |
Adissp |
G |
T |
2: 130,989,174 (GRCm39) |
H111N |
probably damaging |
Het |
Angptl3 |
A |
C |
4: 98,926,085 (GRCm39) |
N405T |
probably benign |
Het |
Ank3 |
A |
G |
10: 69,824,217 (GRCm39) |
H180R |
probably damaging |
Het |
Apob |
T |
A |
12: 8,033,124 (GRCm39) |
I159N |
probably damaging |
Het |
Arhgap24 |
T |
C |
5: 103,028,659 (GRCm39) |
V185A |
probably benign |
Het |
Atf6 |
A |
T |
1: 170,695,238 (GRCm39) |
H11Q |
probably benign |
Het |
Atxn3 |
C |
A |
12: 101,900,660 (GRCm39) |
D208Y |
probably damaging |
Het |
Brd9 |
G |
A |
13: 74,090,913 (GRCm39) |
R273K |
probably benign |
Het |
Cbfa2t3 |
T |
A |
8: 123,362,540 (GRCm39) |
R302W |
probably benign |
Het |
Ccdc175 |
C |
A |
12: 72,186,804 (GRCm39) |
G347C |
probably damaging |
Het |
Ccdc87 |
A |
G |
19: 4,891,817 (GRCm39) |
K770E |
probably damaging |
Het |
Ccl17 |
T |
C |
8: 95,537,178 (GRCm39) |
F27L |
probably benign |
Het |
Cd3g |
A |
T |
9: 44,882,613 (GRCm39) |
|
probably null |
Het |
Cep350 |
A |
G |
1: 155,809,082 (GRCm39) |
V498A |
probably benign |
Het |
Cfap45 |
A |
G |
1: 172,368,151 (GRCm39) |
D381G |
probably damaging |
Het |
Cfap46 |
A |
G |
7: 139,194,321 (GRCm39) |
|
probably null |
Het |
Cnrip1 |
T |
A |
11: 17,028,536 (GRCm39) |
M156K |
probably damaging |
Het |
Col23a1 |
T |
C |
11: 51,440,552 (GRCm39) |
|
probably null |
Het |
Col4a1 |
C |
T |
8: 11,269,152 (GRCm39) |
G933S |
probably damaging |
Het |
Col5a3 |
C |
T |
9: 20,685,348 (GRCm39) |
V1443I |
unknown |
Het |
Col6a6 |
T |
C |
9: 105,663,024 (GRCm39) |
E171G |
possibly damaging |
Het |
Dennd1a |
A |
T |
2: 37,851,759 (GRCm39) |
|
probably null |
Het |
Dlk2 |
C |
T |
17: 46,613,438 (GRCm39) |
T188I |
probably damaging |
Het |
Dusp8 |
A |
G |
7: 141,637,418 (GRCm39) |
I203T |
probably damaging |
Het |
Eno2 |
C |
T |
6: 124,744,678 (GRCm39) |
R56H |
probably damaging |
Het |
Erich3 |
A |
T |
3: 154,469,102 (GRCm39) |
T1185S |
probably damaging |
Het |
Evi5l |
A |
T |
8: 4,255,906 (GRCm39) |
Q575L |
possibly damaging |
Het |
Fam187a |
T |
A |
11: 102,776,701 (GRCm39) |
H168Q |
possibly damaging |
Het |
Fat2 |
T |
A |
11: 55,175,814 (GRCm39) |
E1633V |
probably damaging |
Het |
Fbln2 |
G |
A |
6: 91,236,641 (GRCm39) |
D719N |
probably damaging |
Het |
Fbn2 |
A |
T |
18: 58,235,462 (GRCm39) |
S672T |
probably damaging |
Het |
Gas8 |
C |
G |
8: 124,253,213 (GRCm39) |
A187G |
probably benign |
Het |
Gm2696 |
G |
A |
10: 77,672,332 (GRCm39) |
|
probably benign |
Het |
Gnl1 |
A |
T |
17: 36,293,845 (GRCm39) |
K272M |
probably benign |
Het |
Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
Hemgn |
T |
G |
4: 46,396,466 (GRCm39) |
K257Q |
probably damaging |
Het |
Hgsnat |
T |
C |
8: 26,443,328 (GRCm39) |
Y474C |
probably damaging |
Het |
Hoxc4 |
T |
C |
15: 102,943,380 (GRCm39) |
S78P |
probably benign |
Het |
Igkv14-100 |
T |
A |
6: 68,496,218 (GRCm39) |
L37Q |
probably damaging |
Het |
Iqck |
A |
T |
7: 118,540,854 (GRCm39) |
K251M |
probably damaging |
Het |
Itgal |
A |
T |
7: 126,929,503 (GRCm39) |
Q1140L |
probably benign |
Het |
Itpka |
A |
G |
2: 119,581,259 (GRCm39) |
R431G |
probably benign |
Het |
Jade1 |
A |
G |
3: 41,558,917 (GRCm39) |
N333D |
possibly damaging |
Het |
Jmjd7 |
A |
G |
2: 119,861,800 (GRCm39) |
H181R |
probably damaging |
Het |
Jmy |
A |
G |
13: 93,590,547 (GRCm39) |
S519P |
probably benign |
Het |
Klra10 |
T |
A |
6: 130,252,755 (GRCm39) |
H173L |
probably benign |
Het |
Krt72 |
T |
G |
15: 101,689,481 (GRCm39) |
I284L |
probably benign |
Het |
Krt78 |
C |
A |
15: 101,860,206 (GRCm39) |
V237F |
probably benign |
Het |
Mapkapk3 |
G |
A |
9: 107,134,648 (GRCm39) |
T296M |
probably damaging |
Het |
Mcmbp |
A |
C |
7: 128,314,451 (GRCm39) |
V255G |
possibly damaging |
Het |
Mcoln1 |
T |
G |
8: 3,555,855 (GRCm39) |
M50R |
probably damaging |
Het |
Mocos |
T |
A |
18: 24,799,447 (GRCm39) |
V227E |
probably benign |
Het |
Mpeg1 |
A |
G |
19: 12,439,322 (GRCm39) |
E260G |
probably benign |
Het |
Mrc1 |
A |
T |
2: 14,312,760 (GRCm39) |
N894I |
probably damaging |
Het |
Mroh7 |
A |
G |
4: 106,578,460 (GRCm39) |
S73P |
probably benign |
Het |
Myo3a |
A |
T |
2: 22,404,737 (GRCm39) |
I690L |
possibly damaging |
Het |
Naa50 |
T |
G |
16: 43,979,872 (GRCm39) |
F87V |
probably damaging |
Het |
Ndufs6 |
G |
T |
13: 73,476,471 (GRCm39) |
T32K |
probably damaging |
Het |
Nfe2l2 |
A |
G |
2: 75,506,912 (GRCm39) |
V396A |
probably benign |
Het |
Nptn |
A |
G |
9: 58,551,017 (GRCm39) |
E348G |
probably damaging |
Het |
Nsun4 |
A |
T |
4: 115,901,935 (GRCm39) |
L177Q |
probably damaging |
Het |
Or56b1b |
A |
G |
7: 108,164,046 (GRCm39) |
*319Q |
probably null |
Het |
Or8d6 |
T |
C |
9: 39,853,658 (GRCm39) |
I34T |
possibly damaging |
Het |
Or8k36-ps1 |
A |
G |
2: 86,437,462 (GRCm39) |
L151P |
unknown |
Het |
Plekha7 |
A |
G |
7: 115,763,717 (GRCm39) |
V233A |
probably benign |
Het |
Polq |
C |
A |
16: 36,880,739 (GRCm39) |
Q968K |
possibly damaging |
Het |
Prmt7 |
C |
T |
8: 106,961,516 (GRCm39) |
T143M |
probably damaging |
Het |
Ptprc |
G |
A |
1: 138,007,881 (GRCm39) |
Q886* |
probably null |
Het |
Rbp7 |
C |
A |
4: 149,537,371 (GRCm39) |
V36L |
possibly damaging |
Het |
Rev3l |
A |
T |
10: 39,698,698 (GRCm39) |
N1065I |
probably benign |
Het |
Scamp5 |
A |
T |
9: 57,354,489 (GRCm39) |
|
probably null |
Het |
Sec16a |
A |
G |
2: 26,316,118 (GRCm39) |
S1698P |
probably damaging |
Het |
Spr |
C |
A |
6: 85,114,474 (GRCm39) |
R85L |
probably benign |
Het |
Sptlc2 |
A |
C |
12: 87,402,436 (GRCm39) |
N163K |
probably benign |
Het |
Stk10 |
C |
T |
11: 32,538,839 (GRCm39) |
T226M |
probably damaging |
Het |
Sv2c |
A |
G |
13: 96,123,229 (GRCm39) |
Y415H |
probably benign |
Het |
Tet1 |
A |
G |
10: 62,715,792 (GRCm39) |
M1T |
probably null |
Het |
Tnnt1 |
T |
A |
7: 4,512,060 (GRCm39) |
K150* |
probably null |
Het |
Trappc10 |
C |
T |
10: 78,037,287 (GRCm39) |
V839M |
probably benign |
Het |
Ubap2 |
T |
C |
4: 41,195,155 (GRCm39) |
N1131S |
probably damaging |
Het |
Upk2 |
T |
C |
9: 44,364,803 (GRCm39) |
E132G |
probably damaging |
Het |
Vmn2r117 |
A |
T |
17: 23,679,193 (GRCm39) |
V677D |
probably damaging |
Het |
Vps13a |
A |
T |
19: 16,702,943 (GRCm39) |
L670H |
probably damaging |
Het |
Wwc1 |
C |
T |
11: 35,744,264 (GRCm39) |
E853K |
probably benign |
Het |
Zfp512 |
G |
A |
5: 31,623,984 (GRCm39) |
R67H |
probably damaging |
Het |
Zzef1 |
C |
A |
11: 72,716,891 (GRCm39) |
N360K |
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 |
|
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'- AACTGTTGCATCTGGCTGG -3'
(R):5'- TGTGCAGACAGTTCCAGTG -3'
Sequencing Primer
(F):5'- CAAGAGTGATGGTAAAGATCTTGAC -3'
(R):5'- GACAGTTCCAGTGCACCAG -3'
|
Posted On |
2018-06-06 |