Incidental Mutation 'IGL00941:Zfp839'
ID |
28752 |
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: 0.052)
|
Stock # |
IGL00941
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
110816687-110836430 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 110827382 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 424
(S424R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131841
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170060]
[ENSMUST00000222460]
|
AlphaFold |
E9PUU5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170060
AA Change: S424R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000131841 Gene: ENSMUSG00000021271 AA Change: S424R
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 |
noncoding transcript
Transcript: ENSMUST00000181662
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222460
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
C |
17: 24,536,104 (GRCm39) |
I521S |
probably damaging |
Het |
Ace |
A |
T |
11: 105,870,376 (GRCm39) |
K265I |
probably benign |
Het |
Acss3 |
A |
G |
10: 106,889,187 (GRCm39) |
|
probably null |
Het |
Aldh3a2 |
A |
G |
11: 61,153,082 (GRCm39) |
Y215H |
probably damaging |
Het |
Clk2 |
A |
G |
3: 89,082,729 (GRCm39) |
M393V |
probably damaging |
Het |
Cyc1 |
A |
G |
15: 76,229,365 (GRCm39) |
I242V |
probably benign |
Het |
Evpl |
G |
A |
11: 116,118,727 (GRCm39) |
L657F |
probably benign |
Het |
Fbxw10 |
G |
A |
11: 62,764,327 (GRCm39) |
V675M |
probably damaging |
Het |
Fgf21 |
A |
G |
7: 45,264,597 (GRCm39) |
V45A |
probably damaging |
Het |
Gm5134 |
T |
C |
10: 75,836,255 (GRCm39) |
I412T |
possibly damaging |
Het |
Gnat3 |
T |
C |
5: 18,208,749 (GRCm39) |
|
probably benign |
Het |
Hk3 |
C |
T |
13: 55,162,239 (GRCm39) |
|
probably null |
Het |
Ifna12 |
A |
T |
4: 88,521,551 (GRCm39) |
|
probably benign |
Het |
Ipp |
A |
G |
4: 116,389,856 (GRCm39) |
M471V |
possibly damaging |
Het |
Kcnj1 |
G |
A |
9: 32,307,794 (GRCm39) |
V73I |
probably benign |
Het |
Kin |
G |
A |
2: 10,085,515 (GRCm39) |
R25H |
probably damaging |
Het |
Kin |
T |
C |
2: 10,085,517 (GRCm39) |
W26R |
probably damaging |
Het |
Mical2 |
T |
C |
7: 111,920,652 (GRCm39) |
|
probably benign |
Het |
Mllt1 |
A |
T |
17: 57,202,086 (GRCm39) |
S428R |
probably damaging |
Het |
Ppm1k |
T |
A |
6: 57,501,740 (GRCm39) |
H141L |
probably benign |
Het |
Septin4 |
G |
T |
11: 87,480,599 (GRCm39) |
C392F |
probably damaging |
Het |
Slc26a11 |
T |
C |
11: 119,270,727 (GRCm39) |
F550L |
probably benign |
Het |
Ssb |
T |
A |
2: 69,701,179 (GRCm39) |
|
probably null |
Het |
Stk36 |
T |
A |
1: 74,663,093 (GRCm39) |
M588K |
possibly damaging |
Het |
Ubqln4 |
G |
A |
3: 88,471,808 (GRCm39) |
A415T |
probably benign |
Het |
Zkscan6 |
G |
T |
11: 65,705,573 (GRCm39) |
G95W |
probably damaging |
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 |
|
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 |
2013-04-17 |