Incidental Mutation 'R7654:Zfp804b'
| ID |
591053 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp804b
|
| Ensembl Gene |
ENSMUSG00000092094 |
| Gene Name |
zinc finger protein 804B |
| Synonyms |
LOC207618 |
| MMRRC Submission |
045702-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R7654 (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 A
at 6819458 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 1202
(T1202S)
|
| 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: T1166S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130571
Gene: ENSMUSG00000092094
AA Change: T1166S
| 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: T1202S
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143568
Gene: ENSMUSG00000092094
AA Change: T1202S
| 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 |
0.0816 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (76/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
A |
19: 43,815,032 (GRCm39) |
V1140M |
possibly damaging |
Het |
| Adamtsl3 |
A |
C |
7: 82,223,702 (GRCm39) |
E1161A |
probably benign |
Het |
| Adcy5 |
T |
C |
16: 35,091,317 (GRCm39) |
S587P |
probably damaging |
Het |
| Aebp2 |
T |
A |
6: 140,599,474 (GRCm39) |
|
probably null |
Het |
| Alb |
G |
C |
5: 90,615,214 (GRCm39) |
R242P |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,727,154 (GRCm39) |
V423A |
probably damaging |
Het |
| Arid1b |
T |
A |
17: 5,341,360 (GRCm39) |
M888K |
possibly damaging |
Het |
| Asl |
C |
A |
5: 130,047,231 (GRCm39) |
R122S |
probably damaging |
Het |
| B3gntl1 |
T |
A |
11: 121,542,439 (GRCm39) |
D109V |
probably damaging |
Het |
| Cat |
G |
A |
2: 103,290,709 (GRCm39) |
P402S |
probably damaging |
Het |
| Ccdc141 |
A |
T |
2: 76,872,822 (GRCm39) |
Y787N |
probably benign |
Het |
| Ccdc78 |
T |
C |
17: 26,009,085 (GRCm39) |
Y405H |
probably damaging |
Het |
| Ces1f |
T |
G |
8: 93,998,562 (GRCm39) |
K145Q |
probably benign |
Het |
| Cfap65 |
A |
T |
1: 74,972,303 (GRCm39) |
C19S |
probably benign |
Het |
| CN725425 |
T |
A |
15: 91,123,638 (GRCm39) |
I118N |
probably benign |
Het |
| Ctc1 |
C |
T |
11: 68,917,041 (GRCm39) |
P312S |
probably damaging |
Het |
| Ctsa |
C |
T |
2: 164,680,853 (GRCm39) |
T442I |
probably benign |
Het |
| Cyp2b9 |
A |
G |
7: 25,886,367 (GRCm39) |
T131A |
possibly damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,154,636 (GRCm39) |
M1181T |
probably damaging |
Het |
| Dagla |
C |
G |
19: 10,225,570 (GRCm39) |
G865R |
probably benign |
Het |
| Dst |
A |
C |
1: 34,268,058 (GRCm39) |
K3153Q |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,268,059 (GRCm39) |
K3153M |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,122,664 (GRCm39) |
H2097Q |
probably damaging |
Het |
| Etnppl |
A |
G |
3: 130,423,160 (GRCm39) |
I286M |
probably benign |
Het |
| Flvcr1 |
A |
T |
1: 190,743,802 (GRCm39) |
M418K |
possibly damaging |
Het |
| Fuca1 |
T |
C |
4: 135,657,232 (GRCm39) |
S215P |
probably damaging |
Het |
| Gabrg1 |
T |
C |
5: 70,935,504 (GRCm39) |
K222E |
probably benign |
Het |
| Gdpd5 |
G |
A |
7: 99,073,396 (GRCm39) |
R26H |
probably damaging |
Het |
| Gnptab |
T |
A |
10: 88,281,681 (GRCm39) |
S1229R |
possibly damaging |
Het |
| Gpt |
A |
G |
15: 76,582,530 (GRCm39) |
E256G |
probably benign |
Het |
| Hif3a |
C |
T |
7: 16,783,021 (GRCm39) |
V261I |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,236,581 (GRCm39) |
T375A |
probably benign |
Het |
| Hspa4 |
C |
A |
11: 53,190,951 (GRCm39) |
V15F |
probably damaging |
Het |
| Il18 |
A |
G |
9: 50,490,701 (GRCm39) |
N112S |
possibly damaging |
Het |
| Inpp4a |
A |
G |
1: 37,413,179 (GRCm39) |
|
probably null |
Het |
| Knop1 |
A |
G |
7: 118,445,032 (GRCm39) |
S525P |
unknown |
Het |
| Leo1 |
A |
T |
9: 75,362,961 (GRCm39) |
Y461F |
possibly damaging |
Het |
| Med1 |
C |
T |
11: 98,060,189 (GRCm39) |
V247I |
possibly damaging |
Het |
| Mpnd |
T |
G |
17: 56,317,489 (GRCm39) |
H159Q |
probably benign |
Het |
| Msl1 |
A |
G |
11: 98,686,937 (GRCm39) |
E94G |
possibly damaging |
Het |
| Mthfd2l |
A |
T |
5: 91,094,665 (GRCm39) |
I45F |
probably damaging |
Het |
| Neurl1b |
T |
A |
17: 26,657,671 (GRCm39) |
L203Q |
probably benign |
Het |
| Or5m12 |
G |
T |
2: 85,734,663 (GRCm39) |
T245N |
possibly damaging |
Het |
| Otoa |
T |
G |
7: 120,746,923 (GRCm39) |
L896R |
probably damaging |
Het |
| Pcdhac2 |
T |
A |
18: 37,278,076 (GRCm39) |
V352E |
probably damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,434,168 (GRCm39) |
K1400I |
possibly damaging |
Het |
| Pcx |
T |
A |
19: 4,565,697 (GRCm39) |
|
probably null |
Het |
| Pds5a |
A |
G |
5: 65,776,324 (GRCm39) |
V90A |
probably damaging |
Het |
| Pgam2 |
T |
C |
11: 5,753,351 (GRCm39) |
K113R |
probably null |
Het |
| Phkb |
G |
T |
8: 86,667,516 (GRCm39) |
R266L |
possibly damaging |
Het |
| Phtf2 |
A |
G |
5: 20,987,459 (GRCm39) |
S346P |
probably damaging |
Het |
| Pkd1l3 |
G |
A |
8: 110,365,049 (GRCm39) |
A1144T |
probably damaging |
Het |
| Plbd1 |
T |
C |
6: 136,628,864 (GRCm39) |
Y68C |
possibly damaging |
Het |
| Polk |
T |
C |
13: 96,633,321 (GRCm39) |
T241A |
probably benign |
Het |
| Ppfibp2 |
T |
A |
7: 107,337,818 (GRCm39) |
D635E |
probably damaging |
Het |
| Ppip5k1 |
G |
A |
2: 121,179,040 (GRCm39) |
R229W |
probably damaging |
Het |
| Ptpn20 |
A |
G |
14: 33,360,281 (GRCm39) |
D386G |
probably benign |
Het |
| Rab22a |
T |
C |
2: 173,529,968 (GRCm39) |
Y49H |
probably benign |
Het |
| Rab3gap1 |
A |
G |
1: 127,837,652 (GRCm39) |
D238G |
probably damaging |
Het |
| Rbp3 |
T |
C |
14: 33,677,797 (GRCm39) |
S582P |
probably benign |
Het |
| Rcbtb2 |
T |
C |
14: 73,411,941 (GRCm39) |
V410A |
probably benign |
Het |
| Sh3rf2 |
A |
G |
18: 42,237,173 (GRCm39) |
E232G |
probably damaging |
Het |
| Shroom1 |
T |
A |
11: 53,357,735 (GRCm39) |
V762E |
probably benign |
Het |
| Speer4f2 |
A |
T |
5: 17,579,413 (GRCm39) |
M71L |
|
Het |
| Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
| Tgfb1 |
A |
T |
7: 25,387,120 (GRCm39) |
|
probably benign |
Het |
| Tnik |
C |
T |
3: 28,658,334 (GRCm39) |
R540C |
probably damaging |
Het |
| Tti1 |
A |
T |
2: 157,850,474 (GRCm39) |
I255N |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,727,490 (GRCm39) |
S5739G |
unknown |
Het |
| Umad1 |
G |
A |
6: 8,426,995 (GRCm39) |
V57M |
probably damaging |
Het |
| Usp30 |
T |
A |
5: 114,240,506 (GRCm39) |
I49N |
probably damaging |
Het |
| Usp7 |
G |
A |
16: 8,519,907 (GRCm39) |
T398I |
probably benign |
Het |
| Vmn2r65 |
A |
G |
7: 84,590,261 (GRCm39) |
Y552H |
probably damaging |
Het |
| Zfp616 |
A |
G |
11: 73,974,013 (GRCm39) |
N185S |
possibly damaging |
Het |
| Zfyve28 |
A |
T |
5: 34,400,539 (GRCm39) |
V53D |
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 |
|
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'- AGGGGCTGCAATGTCATATGTG -3'
(R):5'- AACAGCCCATAACGTTTTCTCC -3'
Sequencing Primer
(F):5'- CTGCGACTAAATGTAGAGGATGACC -3'
(R):5'- GCCCATAACGTTTTCTCCTGATGAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation