Incidental Mutation 'R1666:Zfp804b'
| ID |
187176 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp804b
|
| Ensembl Gene |
ENSMUSG00000092094 |
| Gene Name |
zinc finger protein 804B |
| Synonyms |
LOC207618 |
| MMRRC Submission |
039702-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R1666 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
6819030-7394378 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 6821323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 580
(L580R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164784]
[ENSMUST00000200317]
|
| AlphaFold |
A0A0G2JGH6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164784
AA Change: L544R
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000130571
Gene: ENSMUSG00000092094
AA Change: L544R
| 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 |
possibly damaging
Transcript: ENSMUST00000200317
AA Change: L580R
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143568
Gene: ENSMUSG00000092094
AA Change: L580R
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvrl1 |
G |
A |
15: 101,035,458 (GRCm39) |
R328H |
probably damaging |
Het |
| Afp |
T |
C |
5: 90,652,927 (GRCm39) |
S466P |
probably damaging |
Het |
| Arhgap45 |
A |
G |
10: 79,864,584 (GRCm39) |
S879G |
possibly damaging |
Het |
| Asic1 |
A |
G |
15: 99,597,006 (GRCm39) |
D556G |
probably damaging |
Het |
| Atp2a3 |
T |
A |
11: 72,869,633 (GRCm39) |
|
probably null |
Het |
| Brinp2 |
C |
A |
1: 158,074,128 (GRCm39) |
E664D |
probably damaging |
Het |
| Cap2 |
C |
A |
13: 46,768,799 (GRCm39) |
H147N |
probably damaging |
Het |
| Cd209f |
G |
A |
8: 4,154,862 (GRCm39) |
Q79* |
probably null |
Het |
| Chrna7 |
T |
C |
7: 62,861,890 (GRCm39) |
Y54C |
possibly damaging |
Het |
| Clec1a |
T |
C |
6: 129,413,967 (GRCm39) |
D40G |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,855,184 (GRCm39) |
E148G |
unknown |
Het |
| Comp |
A |
T |
8: 70,831,607 (GRCm39) |
|
probably null |
Het |
| Cpz |
A |
G |
5: 35,665,460 (GRCm39) |
|
probably null |
Het |
| Cyfip1 |
T |
A |
7: 55,521,646 (GRCm39) |
N13K |
probably damaging |
Het |
| Cyp2c50 |
A |
T |
19: 40,079,499 (GRCm39) |
M198L |
probably benign |
Het |
| Deup1 |
A |
T |
9: 15,486,487 (GRCm39) |
Y398N |
possibly damaging |
Het |
| Elapor1 |
A |
G |
3: 108,377,313 (GRCm39) |
S434P |
probably benign |
Het |
| Epb41l4a |
A |
G |
18: 34,054,962 (GRCm39) |
L42P |
probably damaging |
Het |
| Exo1 |
T |
C |
1: 175,736,052 (GRCm39) |
I812T |
possibly damaging |
Het |
| Fbxl17 |
A |
T |
17: 63,692,060 (GRCm39) |
|
probably null |
Het |
| Fxn |
A |
G |
19: 24,239,377 (GRCm39) |
Y172H |
probably damaging |
Het |
| Gabra6 |
A |
G |
11: 42,208,461 (GRCm39) |
S124P |
probably damaging |
Het |
| Gje1 |
C |
A |
10: 14,592,551 (GRCm39) |
W77L |
possibly damaging |
Het |
| Glra1 |
A |
G |
11: 55,465,225 (GRCm39) |
S23P |
probably damaging |
Het |
| Gm6811 |
T |
C |
17: 21,314,529 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1l |
T |
A |
18: 10,501,080 (GRCm39) |
|
probably null |
Het |
| Greb1l |
T |
C |
18: 10,529,708 (GRCm39) |
|
probably null |
Het |
| Grm6 |
A |
T |
11: 50,750,711 (GRCm39) |
I625F |
probably damaging |
Het |
| Guca1a |
A |
G |
17: 47,711,167 (GRCm39) |
F60L |
probably damaging |
Het |
| Hectd1 |
T |
A |
12: 51,800,607 (GRCm39) |
E2070D |
possibly damaging |
Het |
| Itga5 |
G |
A |
15: 103,256,329 (GRCm39) |
T910I |
probably benign |
Het |
| Kctd10 |
A |
G |
5: 114,507,051 (GRCm39) |
V142A |
probably benign |
Het |
| Kif1c |
C |
T |
11: 70,619,223 (GRCm39) |
L953F |
probably damaging |
Het |
| Lmtk3 |
A |
T |
7: 45,443,588 (GRCm39) |
D757V |
probably benign |
Het |
| Lpcat1 |
T |
C |
13: 73,658,242 (GRCm39) |
|
probably null |
Het |
| Lrrc30 |
A |
T |
17: 67,939,200 (GRCm39) |
C127S |
probably benign |
Het |
| Mc4r |
A |
G |
18: 66,992,480 (GRCm39) |
L211P |
probably damaging |
Het |
| Mgat5b |
T |
A |
11: 116,874,474 (GRCm39) |
N635K |
probably benign |
Het |
| Mms19 |
A |
T |
19: 41,940,995 (GRCm39) |
M443K |
possibly damaging |
Het |
| Mroh5 |
T |
C |
15: 73,659,754 (GRCm39) |
N359S |
probably benign |
Het |
| Nlrc4 |
G |
A |
17: 74,752,901 (GRCm39) |
T494M |
probably damaging |
Het |
| Ntf3 |
T |
C |
6: 126,079,401 (GRCm39) |
D35G |
possibly damaging |
Het |
| Or5g25 |
A |
T |
2: 85,478,157 (GRCm39) |
C169* |
probably null |
Het |
| Osbpl5 |
T |
C |
7: 143,262,776 (GRCm39) |
H192R |
probably damaging |
Het |
| Parp4 |
A |
T |
14: 56,861,620 (GRCm39) |
K984N |
possibly damaging |
Het |
| Pdgfra |
G |
A |
5: 75,349,681 (GRCm39) |
G892D |
possibly damaging |
Het |
| Pik3c2g |
A |
T |
6: 139,612,634 (GRCm39) |
|
probably benign |
Het |
| Ppcdc |
T |
A |
9: 57,321,998 (GRCm39) |
M181L |
possibly damaging |
Het |
| Pramel7 |
G |
A |
2: 87,322,747 (GRCm39) |
P6S |
probably damaging |
Het |
| Prkcz |
G |
T |
4: 155,374,208 (GRCm39) |
F69L |
probably damaging |
Het |
| Prkd1 |
G |
A |
12: 50,441,709 (GRCm39) |
H277Y |
probably damaging |
Het |
| Ptgs2 |
A |
G |
1: 149,977,021 (GRCm39) |
Y44C |
probably damaging |
Het |
| Rbck1 |
T |
A |
2: 152,158,819 (GRCm39) |
S488C |
probably damaging |
Het |
| Rbl1 |
T |
C |
2: 157,001,654 (GRCm39) |
Y878C |
probably damaging |
Het |
| Rbm6 |
G |
A |
9: 107,669,055 (GRCm39) |
T619I |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,420,086 (GRCm39) |
I342T |
probably damaging |
Het |
| Rpn2 |
C |
T |
2: 157,136,075 (GRCm39) |
T161M |
possibly damaging |
Het |
| Rufy4 |
G |
A |
1: 74,186,837 (GRCm39) |
V542I |
probably benign |
Het |
| Sema5b |
C |
T |
16: 35,478,852 (GRCm39) |
P559S |
probably benign |
Het |
| Serpinb3d |
A |
G |
1: 107,008,481 (GRCm39) |
V128A |
probably benign |
Het |
| Slc35f3 |
T |
A |
8: 127,115,960 (GRCm39) |
S296T |
probably damaging |
Het |
| Slco1a8 |
T |
A |
6: 141,927,775 (GRCm39) |
|
probably null |
Het |
| Smarca2 |
A |
G |
19: 26,624,434 (GRCm39) |
I365V |
possibly damaging |
Het |
| Spdya |
T |
A |
17: 71,885,235 (GRCm39) |
C230S |
probably damaging |
Het |
| Sv2b |
G |
A |
7: 74,856,089 (GRCm39) |
A67V |
probably benign |
Het |
| Tapbpl |
A |
G |
6: 125,207,164 (GRCm39) |
V175A |
probably benign |
Het |
| Tmt1a3 |
A |
G |
15: 100,233,099 (GRCm39) |
I97V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,642,095 (GRCm39) |
T13373A |
probably damaging |
Het |
| Tubb5 |
A |
T |
17: 36,147,530 (GRCm39) |
N52K |
probably benign |
Het |
| Tyr |
T |
A |
7: 87,142,149 (GRCm39) |
Y137F |
probably damaging |
Het |
| Unc45b |
T |
A |
11: 82,808,565 (GRCm39) |
I217N |
probably benign |
Het |
| Vmn1r202 |
A |
T |
13: 22,685,540 (GRCm39) |
D292E |
possibly damaging |
Het |
| Vmn1r22 |
A |
G |
6: 57,877,704 (GRCm39) |
M91T |
probably benign |
Het |
| Washc2 |
T |
A |
6: 116,200,215 (GRCm39) |
|
probably null |
Het |
| Zfp566 |
A |
T |
7: 29,777,901 (GRCm39) |
H93Q |
probably benign |
Het |
| Zfp740 |
A |
G |
15: 102,116,753 (GRCm39) |
D56G |
probably damaging |
Het |
| Zmiz2 |
T |
G |
11: 6,346,836 (GRCm39) |
S148R |
probably benign |
Het |
| Zmym6 |
T |
A |
4: 127,016,652 (GRCm39) |
I719N |
probably damaging |
Het |
| Zyx |
T |
A |
6: 42,332,966 (GRCm39) |
V372E |
possibly 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 |
|
|
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'- ACTTGGCTCCCCACTTGTAGAAGC -3'
(R):5'- AGAGCAAGGATGGTCACACCACTC -3'
Sequencing Primer
(F):5'- GATCCCCTGATGTGTAAGGAC -3'
(R):5'- TACAGTGGCCTACAGAACTTCTC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation