Incidental Mutation 'IGL00821:Zfp839'
ID |
15006 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp839
|
Ensembl Gene |
ENSMUSG00000021271 |
Gene Name |
zinc finger protein 839 |
Synonyms |
2810455K09Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
IGL00821
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
110816687-110836430 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 110831441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152386
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170060]
[ENSMUST00000222460]
|
AlphaFold |
E9PUU5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000170060
|
SMART Domains |
Protein: ENSMUSP00000131841 Gene: ENSMUSG00000021271
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 null
Transcript: ENSMUST00000222460
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cad |
T |
C |
5: 31,218,828 (GRCm39) |
Y550H |
probably damaging |
Het |
Cep350 |
A |
G |
1: 155,737,950 (GRCm39) |
V2631A |
probably benign |
Het |
Cpa2 |
A |
G |
6: 30,564,411 (GRCm39) |
D414G |
probably benign |
Het |
Dhx38 |
T |
C |
8: 110,282,286 (GRCm39) |
I714V |
probably benign |
Het |
Dis3 |
T |
C |
14: 99,328,922 (GRCm39) |
I277V |
probably benign |
Het |
Espl1 |
T |
C |
15: 102,208,248 (GRCm39) |
L418P |
probably damaging |
Het |
F7 |
A |
G |
8: 13,078,802 (GRCm39) |
T78A |
probably benign |
Het |
Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
Golga3 |
C |
A |
5: 110,352,799 (GRCm39) |
H897N |
possibly damaging |
Het |
Itgae |
T |
A |
11: 73,013,974 (GRCm39) |
D724E |
probably damaging |
Het |
Klb |
A |
T |
5: 65,529,492 (GRCm39) |
Y340F |
probably damaging |
Het |
Kmt2b |
A |
T |
7: 30,270,038 (GRCm39) |
L2436Q |
probably damaging |
Het |
Krt17 |
A |
G |
11: 100,151,457 (GRCm39) |
L112P |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,289,860 (GRCm39) |
N3660Y |
probably damaging |
Het |
Mia2 |
T |
C |
12: 59,217,106 (GRCm39) |
|
probably null |
Het |
Myh2 |
C |
T |
11: 67,088,223 (GRCm39) |
|
probably benign |
Het |
Nr2f1 |
A |
G |
13: 78,346,233 (GRCm39) |
|
probably benign |
Het |
Odf2l |
T |
A |
3: 144,856,748 (GRCm39) |
S568T |
probably damaging |
Het |
Parl |
G |
A |
16: 20,116,958 (GRCm39) |
P80S |
probably damaging |
Het |
Ppfibp2 |
T |
G |
7: 107,329,083 (GRCm39) |
F531V |
probably damaging |
Het |
Prpf40b |
A |
G |
15: 99,214,382 (GRCm39) |
E854G |
probably benign |
Het |
Rere |
A |
G |
4: 150,703,920 (GRCm39) |
K1551E |
probably damaging |
Het |
Sacm1l |
A |
T |
9: 123,399,614 (GRCm39) |
Q302L |
possibly damaging |
Het |
Slc41a2 |
A |
G |
10: 83,149,394 (GRCm39) |
|
probably benign |
Het |
Smchd1 |
T |
C |
17: 71,705,618 (GRCm39) |
T994A |
possibly damaging |
Het |
Ubxn7 |
G |
A |
16: 32,188,216 (GRCm39) |
D125N |
probably damaging |
Het |
Zfp667 |
A |
G |
7: 6,308,396 (GRCm39) |
N355D |
possibly damaging |
Het |
Zfpm2 |
T |
A |
15: 40,966,783 (GRCm39) |
N957K |
probably damaging |
Het |
|
Other mutations in Zfp839 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
R1219:Zfp839
|
UTSW |
12 |
110,834,707 (GRCm39) |
missense |
possibly damaging |
0.63 |
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 |
|
Posted On |
2012-12-06 |