Incidental Mutation 'IGL01303:Fam151a'
| ID |
73326 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam151a
|
| Ensembl Gene |
ENSMUSG00000034871 |
| Gene Name |
family with sequence simliarity 151, member A |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01303
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
106591112-106605489 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106604790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 384
(N384S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047860
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047620]
[ENSMUST00000065253]
[ENSMUST00000102762]
[ENSMUST00000140541]
|
| AlphaFold |
Q8QZW3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047620
AA Change: N384S
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000047860
Gene: ENSMUSG00000034871
AA Change: N384S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:DUF2181
|
70 |
310 |
2.9e-107 |
PFAM |
|
Pfam:DUF2181
|
342 |
579 |
8e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065253
|
| SMART Domains |
Protein: ENSMUSP00000069636
Gene: ENSMUSG00000034853
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:4HBT
|
84 |
157 |
7e-10 |
PFAM |
|
Pfam:4HBT
|
255 |
331 |
2.6e-13 |
PFAM |
|
START
|
405 |
603 |
1.49e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102762
|
| SMART Domains |
Protein: ENSMUSP00000099823
Gene: ENSMUSG00000034853
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:4HBT
|
64 |
136 |
7.2e-10 |
PFAM |
|
Pfam:4HBT
|
235 |
311 |
6.7e-13 |
PFAM |
|
START
|
385 |
583 |
1.49e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140541
|
| SMART Domains |
Protein: ENSMUSP00000124567
Gene: ENSMUSG00000034853
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3B7K|C
|
32 |
71 |
3e-10 |
PDB |
|
SCOP:d1lo7a_
|
37 |
69 |
2e-3 |
SMART |
|
| 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 |
| Fam83c |
A |
G |
2: 155,676,362 (GRCm39) |
L136P |
probably 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 Fam151a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02095:Fam151a
|
APN |
4 |
106,605,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02170:Fam151a
|
APN |
4 |
106,592,795 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02725:Fam151a
|
APN |
4 |
106,605,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0025:Fam151a
|
UTSW |
4 |
106,605,371 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0114:Fam151a
|
UTSW |
4 |
106,591,201 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0620:Fam151a
|
UTSW |
4 |
106,605,128 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1345:Fam151a
|
UTSW |
4 |
106,599,491 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1482:Fam151a
|
UTSW |
4 |
106,602,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1965:Fam151a
|
UTSW |
4 |
106,591,112 (GRCm39) |
unclassified |
probably benign |
|
|
R2086:Fam151a
|
UTSW |
4 |
106,592,760 (GRCm39) |
splice site |
probably null |
|
|
R4078:Fam151a
|
UTSW |
4 |
106,604,954 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4677:Fam151a
|
UTSW |
4 |
106,605,456 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6110:Fam151a
|
UTSW |
4 |
106,605,395 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6188:Fam151a
|
UTSW |
4 |
106,602,696 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6288:Fam151a
|
UTSW |
4 |
106,605,341 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6526:Fam151a
|
UTSW |
4 |
106,591,201 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7298:Fam151a
|
UTSW |
4 |
106,592,725 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7341:Fam151a
|
UTSW |
4 |
106,592,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7363:Fam151a
|
UTSW |
4 |
106,602,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7573:Fam151a
|
UTSW |
4 |
106,600,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8368:Fam151a
|
UTSW |
4 |
106,604,190 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8464:Fam151a
|
UTSW |
4 |
106,605,102 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8503:Fam151a
|
UTSW |
4 |
106,603,377 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8822:Fam151a
|
UTSW |
4 |
106,602,842 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8840:Fam151a
|
UTSW |
4 |
106,602,819 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8927:Fam151a
|
UTSW |
4 |
106,603,242 (GRCm39) |
unclassified |
probably benign |
|
|
R9062:Fam151a
|
UTSW |
4 |
106,605,306 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9076:Fam151a
|
UTSW |
4 |
106,603,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9140:Fam151a
|
UTSW |
4 |
106,605,344 (GRCm39) |
nonsense |
probably null |
|
|
R9663:Fam151a
|
UTSW |
4 |
106,604,894 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Posted On |
2013-10-07 |
Incidental Mutation