Incidental Mutation 'IGL01590:Fam83a'
| ID |
91567 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam83a
|
| Ensembl Gene |
ENSMUSG00000051225 |
| Gene Name |
family with sequence similarity 83, member A |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
IGL01590
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
57848815-57874405 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 57873173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Tyrosine
at position 334
(S334Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160942]
|
| AlphaFold |
Q8K2P2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160942
AA Change: S334Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125464
Gene: ENSMUSG00000051225
AA Change: S334Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1669
|
19 |
295 |
3.6e-102 |
PFAM |
|
low complexity region
|
350 |
361 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161231
|
| 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 |
| Fam83e |
T |
A |
7: 45,373,360 (GRCm39) |
F242Y |
probably null |
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 Fam83a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01061:Fam83a
|
APN |
15 |
57,849,771 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01328:Fam83a
|
APN |
15 |
57,849,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02306:Fam83a
|
APN |
15 |
57,858,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03062:Fam83a
|
APN |
15 |
57,856,473 (GRCm39) |
splice site |
probably null |
|
|
R0110:Fam83a
|
UTSW |
15 |
57,873,322 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0450:Fam83a
|
UTSW |
15 |
57,873,322 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0469:Fam83a
|
UTSW |
15 |
57,873,322 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0533:Fam83a
|
UTSW |
15 |
57,873,207 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1210:Fam83a
|
UTSW |
15 |
57,858,644 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1386:Fam83a
|
UTSW |
15 |
57,849,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1474:Fam83a
|
UTSW |
15 |
57,873,272 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1476:Fam83a
|
UTSW |
15 |
57,873,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1969:Fam83a
|
UTSW |
15 |
57,849,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4463:Fam83a
|
UTSW |
15 |
57,858,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5088:Fam83a
|
UTSW |
15 |
57,873,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5961:Fam83a
|
UTSW |
15 |
57,872,992 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6307:Fam83a
|
UTSW |
15 |
57,849,507 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6524:Fam83a
|
UTSW |
15 |
57,858,736 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6676:Fam83a
|
UTSW |
15 |
57,856,439 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7412:Fam83a
|
UTSW |
15 |
57,849,821 (GRCm39) |
missense |
probably benign |
|
|
R7447:Fam83a
|
UTSW |
15 |
57,873,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7493:Fam83a
|
UTSW |
15 |
57,849,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8379:Fam83a
|
UTSW |
15 |
57,873,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8424:Fam83a
|
UTSW |
15 |
57,873,046 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R8728:Fam83a
|
UTSW |
15 |
57,873,062 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8856:Fam83a
|
UTSW |
15 |
57,872,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8925:Fam83a
|
UTSW |
15 |
57,873,313 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8927:Fam83a
|
UTSW |
15 |
57,873,313 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9514:Fam83a
|
UTSW |
15 |
57,849,765 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9721:Fam83a
|
UTSW |
15 |
57,849,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0023:Fam83a
|
UTSW |
15 |
57,873,001 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
| Posted On |
2013-12-09 |
Incidental Mutation