Incidental Mutation 'IGL01590:Fam83e'
| ID |
91566 |
| 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: 0.050)
|
| Stock # |
IGL01590
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45370636-45378916 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45373360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 242
(F242Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072503]
[ENSMUST00000094424]
[ENSMUST00000129507]
[ENSMUST00000209287]
[ENSMUST00000209693]
[ENSMUST00000210640]
[ENSMUST00000211061]
[ENSMUST00000211435]
|
| AlphaFold |
Q80XS7 |
| Predicted Effect |
probably null
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 |
probably null
Transcript: ENSMUST00000129507
AA Change: F242Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114397
Gene: ENSMUSG00000054161
AA Change: F242Y
| 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 null
Transcript: ENSMUST00000209287
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209556
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209693
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209723
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000210640
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210434
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209867
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211061
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211435
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211325
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211425
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211124
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
A |
2: 19,482,590 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
T |
G |
4: 129,907,606 (GRCm39) |
|
probably benign |
Het |
| Apcs |
C |
T |
1: 172,722,034 (GRCm39) |
G104D |
probably damaging |
Het |
| Atp10b |
G |
A |
11: 43,063,548 (GRCm39) |
R161H |
probably benign |
Het |
| Cep250 |
A |
T |
2: 155,834,237 (GRCm39) |
Q2054L |
possibly damaging |
Het |
| Dennd6a |
T |
G |
14: 26,340,507 (GRCm39) |
V207G |
probably benign |
Het |
| Ehbp1 |
C |
A |
11: 22,045,611 (GRCm39) |
D688Y |
possibly damaging |
Het |
| Fam83a |
C |
A |
15: 57,873,173 (GRCm39) |
S334Y |
probably damaging |
Het |
| Fnip1 |
A |
T |
11: 54,384,126 (GRCm39) |
D341V |
probably damaging |
Het |
| Gpatch3 |
A |
G |
4: 133,308,028 (GRCm39) |
|
probably benign |
Het |
| Gpc2 |
C |
A |
5: 138,272,640 (GRCm39) |
V558F |
probably damaging |
Het |
| H2-M10.6 |
A |
G |
17: 37,123,641 (GRCm39) |
N112D |
probably benign |
Het |
| Hs6st1 |
A |
T |
1: 36,142,785 (GRCm39) |
D240V |
probably damaging |
Het |
| Inpp5f |
T |
A |
7: 128,266,031 (GRCm39) |
|
probably null |
Het |
| Itga8 |
G |
T |
2: 12,165,144 (GRCm39) |
H822N |
probably damaging |
Het |
| Kif20b |
T |
A |
19: 34,932,126 (GRCm39) |
N1263K |
possibly damaging |
Het |
| Krt28 |
A |
G |
11: 99,265,220 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
A |
T |
7: 141,352,630 (GRCm39) |
M706L |
probably benign |
Het |
| Or1j12 |
A |
T |
2: 36,343,004 (GRCm39) |
M136L |
probably benign |
Het |
| Or52h9 |
A |
C |
7: 104,202,782 (GRCm39) |
I219L |
probably benign |
Het |
| Prox2 |
A |
G |
12: 85,134,845 (GRCm39) |
W479R |
probably damaging |
Het |
| Rps19 |
A |
T |
7: 24,587,881 (GRCm39) |
D152V |
probably damaging |
Het |
| Slc20a1 |
G |
A |
2: 129,051,146 (GRCm39) |
|
probably benign |
Het |
| Slc7a2 |
C |
T |
8: 41,367,137 (GRCm39) |
P564S |
probably damaging |
Het |
| Slco1a5 |
C |
A |
6: 142,196,045 (GRCm39) |
M319I |
probably benign |
Het |
| Spmip2 |
A |
C |
3: 79,356,647 (GRCm39) |
N150T |
probably damaging |
Het |
| Spopfm3 |
G |
A |
3: 94,105,674 (GRCm39) |
|
probably benign |
Het |
| Tanc1 |
A |
G |
2: 59,615,817 (GRCm39) |
T275A |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,681,837 (GRCm39) |
S2598P |
probably damaging |
Het |
| Tiparp |
G |
A |
3: 65,439,397 (GRCm39) |
E56K |
probably benign |
Het |
| Trpm5 |
G |
A |
7: 142,636,471 (GRCm39) |
R489C |
probably damaging |
Het |
| Vmn2r84 |
C |
A |
10: 130,221,964 (GRCm39) |
G752V |
probably damaging |
Het |
| Wnt5b |
T |
A |
6: 119,417,515 (GRCm39) |
T130S |
possibly 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 |
|
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 |
|
IGL03276:Fam83e
|
APN |
7 |
45,372,884 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
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 |
2013-12-09 |
Incidental Mutation