Incidental Mutation 'IGL01303:Fam83c'
| ID |
73316 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam83c
|
| Ensembl Gene |
ENSMUSG00000074647 |
| Gene Name |
family with sequence similarity 83, member C |
| Synonyms |
5530400B04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
IGL01303
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
155671103-155676772 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 155676362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 136
(L136P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029143]
|
| AlphaFold |
A2ARK0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029143
AA Change: L136P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029143
Gene: ENSMUSG00000074647
AA Change: L136P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1669
|
61 |
337 |
3.1e-107 |
PFAM |
|
low complexity region
|
347 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
411 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
570 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
672 |
685 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
A |
C |
9: 90,053,787 (GRCm39) |
I111L |
possibly damaging |
Het |
| Ankrd13a |
A |
T |
5: 114,924,063 (GRCm39) |
H53L |
possibly damaging |
Het |
| Becn1 |
T |
C |
11: 101,185,811 (GRCm39) |
D145G |
possibly damaging |
Het |
| Bod1l |
A |
G |
5: 41,974,942 (GRCm39) |
V2124A |
probably benign |
Het |
| Cdcp3 |
A |
G |
7: 130,796,060 (GRCm39) |
T72A |
possibly damaging |
Het |
| Celsr1 |
C |
T |
15: 85,914,692 (GRCm39) |
A1094T |
probably damaging |
Het |
| Clstn2 |
A |
T |
9: 97,365,128 (GRCm39) |
Y459* |
probably null |
Het |
| Cnksr3 |
A |
G |
10: 7,104,281 (GRCm39) |
|
probably null |
Het |
| Cux2 |
A |
T |
5: 122,003,991 (GRCm39) |
F1048L |
probably benign |
Het |
| Cybrd1 |
A |
G |
2: 70,960,050 (GRCm39) |
K83E |
probably damaging |
Het |
| Dpp8 |
A |
T |
9: 64,962,294 (GRCm39) |
|
probably benign |
Het |
| Eef2 |
T |
A |
10: 81,017,777 (GRCm39) |
V813E |
possibly damaging |
Het |
| Eef2 |
A |
T |
10: 81,017,816 (GRCm39) |
|
probably null |
Het |
| Etnk1 |
T |
G |
6: 143,126,392 (GRCm39) |
I79S |
probably damaging |
Het |
| Fam151a |
A |
G |
4: 106,604,790 (GRCm39) |
N384S |
possibly damaging |
Het |
| Gfra2 |
G |
A |
14: 71,133,292 (GRCm39) |
V41I |
probably benign |
Het |
| Mroh9 |
A |
G |
1: 162,908,144 (GRCm39) |
I2T |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,306,132 (GRCm39) |
I274V |
probably benign |
Het |
| Nacad |
T |
G |
11: 6,548,279 (GRCm39) |
E1456A |
possibly damaging |
Het |
| Npy4r |
T |
A |
14: 33,868,614 (GRCm39) |
I225F |
possibly damaging |
Het |
| Or3a1b |
T |
G |
11: 74,012,160 (GRCm39) |
F15C |
probably damaging |
Het |
| Pik3c2a |
T |
C |
7: 115,973,038 (GRCm39) |
D719G |
possibly damaging |
Het |
| Pparg |
G |
T |
6: 115,449,915 (GRCm39) |
V305L |
possibly damaging |
Het |
| Rictor |
A |
G |
15: 6,738,119 (GRCm39) |
N19D |
probably benign |
Het |
| Slc4a1 |
T |
C |
11: 102,248,790 (GRCm39) |
T292A |
probably benign |
Het |
| Slc6a11 |
C |
T |
6: 114,111,626 (GRCm39) |
T103M |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,935,774 (GRCm39) |
|
probably benign |
Het |
| Tal1 |
T |
C |
4: 114,925,489 (GRCm39) |
V186A |
probably benign |
Het |
| Top6bl |
T |
C |
19: 4,709,510 (GRCm39) |
T318A |
possibly damaging |
Het |
| Trpm1 |
T |
A |
7: 63,860,578 (GRCm39) |
|
probably benign |
Het |
| Tyw5 |
A |
T |
1: 57,427,712 (GRCm39) |
Y297* |
probably null |
Het |
| Unc79 |
C |
A |
12: 103,128,126 (GRCm39) |
Q2131K |
possibly damaging |
Het |
|
| Other mutations in Fam83c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01470:Fam83c
|
APN |
2 |
155,676,728 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02695:Fam83c
|
APN |
2 |
155,673,435 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0255:Fam83c
|
UTSW |
2 |
155,671,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0321:Fam83c
|
UTSW |
2 |
155,671,620 (GRCm39) |
missense |
probably benign |
|
|
R0449:Fam83c
|
UTSW |
2 |
155,672,215 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1596:Fam83c
|
UTSW |
2 |
155,672,982 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1635:Fam83c
|
UTSW |
2 |
155,671,971 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2006:Fam83c
|
UTSW |
2 |
155,672,223 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2165:Fam83c
|
UTSW |
2 |
155,673,444 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3840:Fam83c
|
UTSW |
2 |
155,676,668 (GRCm39) |
missense |
probably benign |
|
|
R3841:Fam83c
|
UTSW |
2 |
155,676,668 (GRCm39) |
missense |
probably benign |
|
|
R4693:Fam83c
|
UTSW |
2 |
155,672,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5660:Fam83c
|
UTSW |
2 |
155,671,509 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6364:Fam83c
|
UTSW |
2 |
155,676,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6563:Fam83c
|
UTSW |
2 |
155,672,872 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6976:Fam83c
|
UTSW |
2 |
155,672,157 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7124:Fam83c
|
UTSW |
2 |
155,671,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7643:Fam83c
|
UTSW |
2 |
155,672,924 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8088:Fam83c
|
UTSW |
2 |
155,673,559 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8113:Fam83c
|
UTSW |
2 |
155,676,740 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8212:Fam83c
|
UTSW |
2 |
155,671,207 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8710:Fam83c
|
UTSW |
2 |
155,671,642 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8719:Fam83c
|
UTSW |
2 |
155,671,128 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9194:Fam83c
|
UTSW |
2 |
155,671,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9549:Fam83c
|
UTSW |
2 |
155,676,672 (GRCm39) |
missense |
|
|
|
R9642:Fam83c
|
UTSW |
2 |
155,672,980 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-10-07 |
Incidental Mutation