Incidental Mutation 'IGL03276:Fam83e'
| ID |
415421 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam83e
|
| Ensembl Gene |
ENSMUSG00000054161 |
| Gene Name |
family with sequence similarity 83, member E |
| Synonyms |
4930403C10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL03276
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45370636-45378916 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45372884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 165
(D165G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072503]
[ENSMUST00000094424]
[ENSMUST00000129507]
[ENSMUST00000209287]
[ENSMUST00000209693]
[ENSMUST00000211435]
[ENSMUST00000210640]
[ENSMUST00000211061]
|
| AlphaFold |
Q80XS7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072503
|
| SMART Domains |
Protein: ENSMUSP00000072320
Gene: ENSMUSG00000059070
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2ZKR|O
|
1 |
188 |
1e-116 |
PDB |
|
SCOP:d1jj2n_
|
22 |
139 |
1e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094424
|
| SMART Domains |
Protein: ENSMUSP00000091991
Gene: ENSMUSG00000070563
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:UPAR_LY6
|
23 |
97 |
1.7e-7 |
PFAM |
|
low complexity region
|
99 |
123 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000129507
AA Change: D165G
PolyPhen 2
Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000114397
Gene: ENSMUSG00000054161
AA Change: D165G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1669
|
18 |
293 |
4.8e-105 |
PFAM |
|
low complexity region
|
371 |
385 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209287
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209556
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209693
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211124
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211435
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209867
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210640
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210434
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211325
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211425
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211061
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef25 |
A |
C |
10: 127,021,794 (GRCm39) |
F202V |
possibly damaging |
Het |
| Atrnl1 |
A |
T |
19: 57,641,359 (GRCm39) |
N336Y |
probably damaging |
Het |
| Bicc1 |
T |
C |
10: 70,789,268 (GRCm39) |
D381G |
possibly damaging |
Het |
| Cabin1 |
A |
T |
10: 75,568,247 (GRCm39) |
L912Q |
probably damaging |
Het |
| Foxn1 |
T |
A |
11: 78,261,950 (GRCm39) |
T140S |
probably benign |
Het |
| Ggt1 |
A |
G |
10: 75,416,331 (GRCm39) |
|
probably benign |
Het |
| Kctd8 |
A |
T |
5: 69,497,929 (GRCm39) |
M239K |
possibly damaging |
Het |
| Kdm4d |
A |
T |
9: 14,375,838 (GRCm39) |
C7S |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,379,669 (GRCm39) |
|
probably benign |
Het |
| Klrb1b |
T |
C |
6: 128,792,168 (GRCm39) |
N191S |
probably benign |
Het |
| Krt35 |
C |
T |
11: 99,983,953 (GRCm39) |
S349N |
probably benign |
Het |
| Krt75 |
A |
T |
15: 101,476,811 (GRCm39) |
D359E |
probably damaging |
Het |
| Lipo5 |
T |
C |
19: 33,445,242 (GRCm39) |
D109G |
unknown |
Het |
| Lsm12 |
T |
G |
11: 102,073,770 (GRCm39) |
I58L |
probably benign |
Het |
| Mxd4 |
T |
C |
5: 34,335,088 (GRCm39) |
D99G |
probably benign |
Het |
| Nlrp4a |
T |
A |
7: 26,163,615 (GRCm39) |
N927K |
probably damaging |
Het |
| Olfm2 |
A |
G |
9: 20,580,083 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,457,980 (GRCm39) |
V4103A |
possibly damaging |
Het |
| Slc30a9 |
T |
C |
5: 67,507,260 (GRCm39) |
|
probably benign |
Het |
| Snap91 |
T |
C |
9: 86,707,065 (GRCm39) |
T242A |
possibly damaging |
Het |
| Srp19 |
A |
C |
18: 34,464,843 (GRCm39) |
T28P |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,963,603 (GRCm39) |
V943I |
possibly damaging |
Het |
| Tgfb3 |
T |
C |
12: 86,104,642 (GRCm39) |
E384G |
probably damaging |
Het |
| Tmem39a |
T |
A |
16: 38,405,646 (GRCm39) |
N74K |
probably benign |
Het |
| Tnfrsf11a |
A |
G |
1: 105,749,215 (GRCm39) |
Y211C |
probably damaging |
Het |
|
| Other mutations in Fam83e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Fam83e
|
APN |
7 |
45,376,493 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01590:Fam83e
|
APN |
7 |
45,373,360 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02334:Fam83e
|
APN |
7 |
45,373,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03155:Fam83e
|
APN |
7 |
45,376,499 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0268:Fam83e
|
UTSW |
7 |
45,376,334 (GRCm39) |
missense |
probably benign |
|
|
R0362:Fam83e
|
UTSW |
7 |
45,376,393 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0453:Fam83e
|
UTSW |
7 |
45,373,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0832:Fam83e
|
UTSW |
7 |
45,376,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0870:Fam83e
|
UTSW |
7 |
45,376,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0871:Fam83e
|
UTSW |
7 |
45,376,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1415:Fam83e
|
UTSW |
7 |
45,376,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Fam83e
|
UTSW |
7 |
45,376,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Fam83e
|
UTSW |
7 |
45,376,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1656:Fam83e
|
UTSW |
7 |
45,371,687 (GRCm39) |
missense |
probably benign |
|
|
R1848:Fam83e
|
UTSW |
7 |
45,378,194 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1848:Fam83e
|
UTSW |
7 |
45,378,193 (GRCm39) |
nonsense |
probably null |
|
|
R2189:Fam83e
|
UTSW |
7 |
45,371,607 (GRCm39) |
start codon destroyed |
probably null |
0.88 |
|
R2256:Fam83e
|
UTSW |
7 |
45,378,194 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2256:Fam83e
|
UTSW |
7 |
45,378,193 (GRCm39) |
nonsense |
probably null |
|
|
R2257:Fam83e
|
UTSW |
7 |
45,378,194 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2257:Fam83e
|
UTSW |
7 |
45,378,193 (GRCm39) |
nonsense |
probably null |
|
|
R4376:Fam83e
|
UTSW |
7 |
45,373,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4600:Fam83e
|
UTSW |
7 |
45,372,924 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5876:Fam83e
|
UTSW |
7 |
45,371,787 (GRCm39) |
splice site |
probably null |
|
|
R6666:Fam83e
|
UTSW |
7 |
45,376,426 (GRCm39) |
missense |
probably benign |
|
|
R6766:Fam83e
|
UTSW |
7 |
45,376,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6781:Fam83e
|
UTSW |
7 |
45,371,571 (GRCm39) |
unclassified |
probably benign |
|
|
R6933:Fam83e
|
UTSW |
7 |
45,371,818 (GRCm39) |
missense |
probably benign |
|
|
R7320:Fam83e
|
UTSW |
7 |
45,371,896 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7477:Fam83e
|
UTSW |
7 |
45,378,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7636:Fam83e
|
UTSW |
7 |
45,376,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8675:Fam83e
|
UTSW |
7 |
45,373,293 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9328:Fam83e
|
UTSW |
7 |
45,372,912 (GRCm39) |
missense |
probably benign |
|
|
R9577:Fam83e
|
UTSW |
7 |
45,376,439 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9705:Fam83e
|
UTSW |
7 |
45,371,921 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2016-08-02 |
Incidental Mutation