Incidental Mutation 'IGL03155:Fam83e'
| ID |
411225 |
| 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 # |
IGL03155
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45370636-45378916 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45376499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 404
(E404G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075571]
[ENSMUST00000094424]
[ENSMUST00000129507]
[ENSMUST00000209739]
[ENSMUST00000210754]
|
| AlphaFold |
Q80XS7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075571
|
| SMART Domains |
Protein: ENSMUSP00000075005
Gene: ENSMUSG00000003271
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sulfotransfer_1
|
57 |
302 |
7.8e-84 |
PFAM |
|
low complexity region
|
309 |
337 |
N/A |
INTRINSIC |
|
| 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: E404G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114397
Gene: ENSMUSG00000054161
AA Change: E404G
| 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: ENSMUST00000209739
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210434
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210754
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211124
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adra1d |
C |
T |
2: 131,388,001 (GRCm39) |
R518H |
probably benign |
Het |
| Akr7a5 |
T |
A |
4: 139,041,837 (GRCm39) |
C190* |
probably null |
Het |
| Cct2 |
A |
T |
10: 116,896,576 (GRCm39) |
L209Q |
probably damaging |
Het |
| Chordc1 |
T |
A |
9: 18,215,616 (GRCm39) |
S123T |
possibly damaging |
Het |
| Crtap |
T |
C |
9: 114,209,117 (GRCm39) |
D309G |
possibly damaging |
Het |
| Csf2 |
T |
C |
11: 54,138,497 (GRCm39) |
T115A |
possibly damaging |
Het |
| Dgkb |
T |
A |
12: 38,189,458 (GRCm39) |
I287N |
probably damaging |
Het |
| Dyrk1b |
G |
A |
7: 27,882,112 (GRCm39) |
D98N |
probably benign |
Het |
| Eif4g1 |
T |
C |
16: 20,511,167 (GRCm39) |
S1550P |
probably damaging |
Het |
| Fryl |
G |
A |
5: 73,234,038 (GRCm39) |
P1496S |
probably benign |
Het |
| Fsip1 |
A |
T |
2: 118,082,220 (GRCm39) |
N71K |
probably benign |
Het |
| Gm5092 |
A |
T |
17: 21,314,970 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb1l |
T |
A |
16: 18,359,282 (GRCm39) |
|
probably null |
Het |
| Got1l1 |
T |
C |
8: 27,689,360 (GRCm39) |
Y233C |
probably damaging |
Het |
| Katnbl1 |
T |
A |
2: 112,239,577 (GRCm39) |
|
probably null |
Het |
| Kcnn2 |
A |
G |
18: 45,818,382 (GRCm39) |
E493G |
probably damaging |
Het |
| Kif26b |
C |
T |
1: 178,701,693 (GRCm39) |
R691W |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,285,796 (GRCm39) |
|
probably benign |
Het |
| Mast3 |
A |
G |
8: 71,241,861 (GRCm39) |
S107P |
probably damaging |
Het |
| Mrc1 |
A |
G |
2: 14,335,912 (GRCm39) |
N1433D |
probably benign |
Het |
| Mycbp2 |
G |
A |
14: 103,392,889 (GRCm39) |
S3114L |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,452,932 (GRCm39) |
H43L |
possibly damaging |
Het |
| Nin |
A |
T |
12: 70,078,544 (GRCm39) |
C1681S |
probably damaging |
Het |
| Nnmt |
C |
T |
9: 48,503,352 (GRCm39) |
V225M |
probably damaging |
Het |
| Or2ag1b |
A |
T |
7: 106,288,446 (GRCm39) |
M164K |
probably damaging |
Het |
| Or4c125 |
A |
T |
2: 89,170,310 (GRCm39) |
M112K |
probably damaging |
Het |
| Phf21a |
T |
G |
2: 92,150,611 (GRCm39) |
V64G |
probably damaging |
Het |
| Ptprd |
A |
T |
4: 75,984,456 (GRCm39) |
S800R |
possibly damaging |
Het |
| Scarf2 |
C |
T |
16: 17,625,413 (GRCm39) |
P823S |
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,341,248 (GRCm39) |
T1212A |
possibly damaging |
Het |
| Slc38a10 |
C |
T |
11: 119,995,945 (GRCm39) |
V1043I |
probably damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,692,034 (GRCm39) |
L370Q |
probably null |
Het |
| Tas1r2 |
T |
C |
4: 139,396,467 (GRCm39) |
V602A |
possibly damaging |
Het |
| Tatdn1 |
T |
C |
15: 58,788,045 (GRCm39) |
|
probably benign |
Het |
| Tdrd6 |
A |
T |
17: 43,936,398 (GRCm39) |
L1550Q |
probably damaging |
Het |
| Tet3 |
G |
T |
6: 83,345,365 (GRCm39) |
R1556S |
probably damaging |
Het |
| Tnpo2 |
T |
A |
8: 85,771,709 (GRCm39) |
I249N |
probably benign |
Het |
| Tnxb |
G |
T |
17: 34,932,569 (GRCm39) |
V2263F |
probably damaging |
Het |
| Trim75 |
C |
T |
8: 65,435,992 (GRCm39) |
V153M |
possibly damaging |
Het |
| Ttc21a |
T |
A |
9: 119,773,042 (GRCm39) |
|
probably null |
Het |
| Tuft1 |
T |
A |
3: 94,541,821 (GRCm39) |
I61L |
possibly damaging |
Het |
| Usp43 |
T |
C |
11: 67,767,315 (GRCm39) |
D680G |
probably damaging |
Het |
| Vac14 |
A |
G |
8: 111,362,975 (GRCm39) |
I274V |
possibly damaging |
Het |
| Vmn1r222 |
T |
A |
13: 23,416,863 (GRCm39) |
R117W |
probably damaging |
Het |
| Vmn1r83 |
T |
C |
7: 12,055,617 (GRCm39) |
M147V |
probably benign |
Het |
| Vmn2r43 |
T |
A |
7: 8,258,068 (GRCm39) |
I382L |
possibly damaging |
Het |
| Vmn2r63 |
C |
T |
7: 42,552,878 (GRCm39) |
V793I |
probably damaging |
Het |
| Vopp1 |
A |
G |
6: 57,739,492 (GRCm39) |
Y19H |
possibly damaging |
Het |
| Yeats2 |
T |
C |
16: 20,048,323 (GRCm39) |
|
probably null |
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 |
|
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 |
2016-08-02 |
Incidental Mutation