Incidental Mutation 'R1219:Zfp839'
ID |
99943 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp839
|
Ensembl Gene |
ENSMUSG00000021271 |
Gene Name |
zinc finger protein 839 |
Synonyms |
2810455K09Rik |
MMRRC Submission |
039288-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R1219 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
110816687-110836430 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 110834707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 654
(D654G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131841
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043716]
[ENSMUST00000170060]
[ENSMUST00000220607]
[ENSMUST00000222460]
|
AlphaFold |
E9PUU5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043716
|
SMART Domains |
Protein: ENSMUSP00000035245 Gene: ENSMUSG00000021276
Domain | Start | End | E-Value | Type |
low complexity region
|
54 |
78 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170060
AA Change: D654G
PolyPhen 2
Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000131841 Gene: ENSMUSG00000021271 AA Change: D654G
Domain | Start | End | E-Value | Type |
low complexity region
|
271 |
278 |
N/A |
INTRINSIC |
ZnF_C2H2
|
295 |
320 |
3.02e0 |
SMART |
low complexity region
|
377 |
388 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220607
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222460
AA Change: D578G
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
Validation Efficiency |
98% (44/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atad2 |
A |
G |
15: 57,998,307 (GRCm39) |
S22P |
probably benign |
Het |
Atrn |
A |
T |
2: 130,862,927 (GRCm39) |
T1336S |
possibly damaging |
Het |
Bltp1 |
T |
A |
3: 37,000,619 (GRCm39) |
L1266* |
probably null |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Ccdc113 |
T |
C |
8: 96,264,895 (GRCm39) |
|
probably benign |
Het |
Ccdc158 |
A |
G |
5: 92,802,040 (GRCm39) |
|
probably benign |
Het |
Ciao3 |
T |
C |
17: 25,994,075 (GRCm39) |
I41T |
probably damaging |
Het |
Dcun1d3 |
G |
T |
7: 119,458,631 (GRCm39) |
Q135K |
probably damaging |
Het |
Dnah7b |
A |
C |
1: 46,379,280 (GRCm39) |
E3671D |
probably benign |
Het |
Eea1 |
A |
G |
10: 95,846,623 (GRCm39) |
|
probably benign |
Het |
Entrep3 |
T |
C |
3: 89,091,155 (GRCm39) |
V42A |
probably damaging |
Het |
Gdf10 |
G |
A |
14: 33,654,710 (GRCm39) |
A406T |
probably benign |
Het |
Gm5111 |
A |
G |
6: 48,567,328 (GRCm39) |
|
probably benign |
Het |
Golga3 |
G |
T |
5: 110,332,215 (GRCm39) |
E50* |
probably null |
Het |
Junb |
T |
C |
8: 85,704,268 (GRCm39) |
E264G |
probably damaging |
Het |
Kash5 |
A |
G |
7: 44,838,832 (GRCm39) |
|
probably benign |
Het |
Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
Krt18 |
T |
C |
15: 101,939,723 (GRCm39) |
|
probably benign |
Het |
Man1a |
G |
A |
10: 53,795,249 (GRCm39) |
|
probably benign |
Het |
Mapkbp1 |
G |
T |
2: 119,849,831 (GRCm39) |
G768* |
probably null |
Het |
Mybpc2 |
A |
C |
7: 44,165,458 (GRCm39) |
|
probably null |
Het |
Nectin3 |
A |
T |
16: 46,275,042 (GRCm39) |
C238* |
probably null |
Het |
Ntf3 |
G |
T |
6: 126,079,174 (GRCm39) |
R98S |
possibly damaging |
Het |
Nup153 |
T |
G |
13: 46,840,695 (GRCm39) |
Q971P |
probably benign |
Het |
Nup155 |
A |
G |
15: 8,146,822 (GRCm39) |
T221A |
possibly damaging |
Het |
Ppp2r1b |
T |
C |
9: 50,778,621 (GRCm39) |
|
probably benign |
Het |
Prkd1 |
A |
T |
12: 50,435,125 (GRCm39) |
V534E |
probably damaging |
Het |
Rabep2 |
A |
G |
7: 126,028,799 (GRCm39) |
E26G |
probably damaging |
Het |
Rnf213 |
C |
A |
11: 119,327,003 (GRCm39) |
N1663K |
probably damaging |
Het |
Slc1a1 |
G |
A |
19: 28,882,146 (GRCm39) |
|
probably benign |
Het |
Slc36a4 |
T |
C |
9: 15,634,832 (GRCm39) |
Y125H |
probably damaging |
Het |
Slc6a11 |
G |
A |
6: 114,202,772 (GRCm39) |
|
probably benign |
Het |
Stab1 |
C |
T |
14: 30,862,578 (GRCm39) |
|
probably null |
Het |
Sumf2 |
G |
T |
5: 129,883,613 (GRCm39) |
A164S |
probably benign |
Het |
Sv2b |
T |
C |
7: 74,786,160 (GRCm39) |
D420G |
probably benign |
Het |
Ube2v1 |
T |
C |
2: 167,459,831 (GRCm39) |
D56G |
probably benign |
Het |
Ung |
A |
G |
5: 114,270,228 (GRCm39) |
|
probably benign |
Het |
Vcan |
T |
C |
13: 89,828,023 (GRCm39) |
Y2181C |
probably damaging |
Het |
Vmn1r238 |
G |
A |
18: 3,123,135 (GRCm39) |
T93I |
possibly damaging |
Het |
Vmn2r14 |
A |
C |
5: 109,372,440 (GRCm39) |
S17A |
probably benign |
Het |
Vmn2r25 |
A |
G |
6: 123,816,282 (GRCm39) |
V433A |
probably benign |
Het |
Zfp36l2 |
A |
G |
17: 84,495,070 (GRCm39) |
|
probably null |
Het |
Zfp646 |
G |
A |
7: 127,482,292 (GRCm39) |
G1490S |
probably benign |
Het |
|
Other mutations in Zfp839 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00821:Zfp839
|
APN |
12 |
110,831,441 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00941:Zfp839
|
APN |
12 |
110,827,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R0013:Zfp839
|
UTSW |
12 |
110,834,820 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0013:Zfp839
|
UTSW |
12 |
110,834,820 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0109:Zfp839
|
UTSW |
12 |
110,827,308 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0116:Zfp839
|
UTSW |
12 |
110,825,203 (GRCm39) |
intron |
probably benign |
|
R1406:Zfp839
|
UTSW |
12 |
110,832,744 (GRCm39) |
missense |
probably damaging |
0.99 |
R1406:Zfp839
|
UTSW |
12 |
110,832,744 (GRCm39) |
missense |
probably damaging |
0.99 |
R1434:Zfp839
|
UTSW |
12 |
110,827,333 (GRCm39) |
missense |
probably benign |
0.08 |
R1653:Zfp839
|
UTSW |
12 |
110,821,684 (GRCm39) |
missense |
probably benign |
0.02 |
R1754:Zfp839
|
UTSW |
12 |
110,821,891 (GRCm39) |
missense |
probably damaging |
0.98 |
R2182:Zfp839
|
UTSW |
12 |
110,834,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R3765:Zfp839
|
UTSW |
12 |
110,821,597 (GRCm39) |
missense |
probably benign |
0.22 |
R3981:Zfp839
|
UTSW |
12 |
110,832,765 (GRCm39) |
missense |
probably damaging |
0.97 |
R4756:Zfp839
|
UTSW |
12 |
110,821,635 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5088:Zfp839
|
UTSW |
12 |
110,834,610 (GRCm39) |
missense |
probably damaging |
0.99 |
R5394:Zfp839
|
UTSW |
12 |
110,822,020 (GRCm39) |
missense |
probably benign |
0.05 |
R5619:Zfp839
|
UTSW |
12 |
110,830,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R6856:Zfp839
|
UTSW |
12 |
110,833,195 (GRCm39) |
nonsense |
probably null |
|
R7661:Zfp839
|
UTSW |
12 |
110,835,226 (GRCm39) |
missense |
probably benign |
0.32 |
R7860:Zfp839
|
UTSW |
12 |
110,822,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R8022:Zfp839
|
UTSW |
12 |
110,821,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R8855:Zfp839
|
UTSW |
12 |
110,834,848 (GRCm39) |
missense |
probably benign |
0.06 |
R8866:Zfp839
|
UTSW |
12 |
110,834,848 (GRCm39) |
missense |
probably benign |
0.06 |
R8896:Zfp839
|
UTSW |
12 |
110,835,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R9289:Zfp839
|
UTSW |
12 |
110,834,878 (GRCm39) |
missense |
probably benign |
0.04 |
R9606:Zfp839
|
UTSW |
12 |
110,834,776 (GRCm39) |
missense |
probably benign |
|
R9668:Zfp839
|
UTSW |
12 |
110,822,280 (GRCm39) |
missense |
probably damaging |
0.98 |
R9686:Zfp839
|
UTSW |
12 |
110,821,932 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Zfp839
|
UTSW |
12 |
110,833,218 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCCTGCTAAACTCTCTTGGAATG -3'
(R):5'- ACGGCCCCAGAATCCTGATACATAG -3'
Sequencing Primer
(F):5'- GGAAGCCCATTTTGAACAGC -3'
(R):5'- CCAGAATCCTGATACATAGTGTGTTC -3'
|
Posted On |
2014-01-15 |