Incidental Mutation 'IGL00546:Slc15a5'
| ID |
332581 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc15a5
|
| Ensembl Gene |
ENSMUSG00000044378 |
| Gene Name |
solute carrier family 15, member 5 |
| Synonyms |
9830102E05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL00546
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
137960584-138056914 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 138020536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 266
(Y266H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000141280]
[ENSMUST00000171804]
|
| AlphaFold |
Q8CBB2 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000050132
|
| SMART Domains |
Protein: ENSMUSP00000050794
Gene: ENSMUSG00000044378
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
48 |
N/A |
INTRINSIC |
|
transmembrane domain
|
69 |
88 |
N/A |
INTRINSIC |
|
transmembrane domain
|
92 |
114 |
N/A |
INTRINSIC |
|
Pfam:PTR2
|
167 |
345 |
1.2e-8 |
PFAM |
|
transmembrane domain
|
375 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
424 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111873
|
| SMART Domains |
Protein: ENSMUSP00000107504
Gene: ENSMUSG00000044378
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
28 |
N/A |
INTRINSIC |
|
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
|
transmembrane domain
|
130 |
152 |
N/A |
INTRINSIC |
|
transmembrane domain
|
167 |
189 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141280
|
| SMART Domains |
Protein: ENSMUSP00000145169
Gene: ENSMUSG00000044378
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTR2
|
3 |
89 |
2.7e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154461
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171804
AA Change: Y266H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129239
Gene: ENSMUSG00000044378
AA Change: Y266H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTR2
|
101 |
485 |
4.3e-23 |
PFAM |
|
low complexity region
|
536 |
543 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
T |
C |
17: 48,401,096 (GRCm39) |
V127A |
possibly damaging |
Het |
| 9130008F23Rik |
C |
A |
17: 41,191,004 (GRCm39) |
V142L |
possibly damaging |
Het |
| Adnp2 |
T |
C |
18: 80,172,082 (GRCm39) |
T776A |
probably benign |
Het |
| Arid4a |
T |
A |
12: 71,122,445 (GRCm39) |
V942E |
probably benign |
Het |
| Bdnf |
C |
T |
2: 109,553,892 (GRCm39) |
P89S |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,652,077 (GRCm39) |
D302G |
probably damaging |
Het |
| Cnot6 |
A |
T |
11: 49,576,093 (GRCm39) |
S158T |
probably benign |
Het |
| Dbt |
A |
C |
3: 116,332,930 (GRCm39) |
K250Q |
probably benign |
Het |
| Exd2 |
A |
G |
12: 80,527,321 (GRCm39) |
I171M |
probably benign |
Het |
| Ints14 |
A |
T |
9: 64,880,074 (GRCm39) |
N196I |
probably benign |
Het |
| Krt79 |
G |
T |
15: 101,838,308 (GRCm39) |
N482K |
probably benign |
Het |
| Loxhd1 |
G |
A |
18: 77,493,672 (GRCm39) |
A678T |
probably damaging |
Het |
| Mrpl51 |
A |
G |
6: 125,170,177 (GRCm39) |
|
probably benign |
Het |
| Mrtfb |
C |
A |
16: 13,221,086 (GRCm39) |
A754D |
probably benign |
Het |
| Mrtfb |
T |
G |
16: 13,221,089 (GRCm39) |
L766R |
possibly damaging |
Het |
| Nipsnap1 |
A |
G |
11: 4,839,098 (GRCm39) |
E126G |
possibly damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,046,569 (GRCm39) |
|
probably benign |
Het |
| Semp2l1 |
A |
T |
1: 32,585,748 (GRCm39) |
M54K |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,697,817 (GRCm39) |
D73Y |
probably damaging |
Het |
|
| Other mutations in Slc15a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02090:Slc15a5
|
APN |
6 |
138,020,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0288:Slc15a5
|
UTSW |
6 |
137,994,914 (GRCm39) |
splice site |
probably benign |
|
|
R0355:Slc15a5
|
UTSW |
6 |
137,995,112 (GRCm39) |
splice site |
probably benign |
|
|
R0825:Slc15a5
|
UTSW |
6 |
137,995,087 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1470:Slc15a5
|
UTSW |
6 |
138,049,992 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1470:Slc15a5
|
UTSW |
6 |
138,049,992 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1721:Slc15a5
|
UTSW |
6 |
138,049,845 (GRCm39) |
splice site |
probably benign |
|
|
R1897:Slc15a5
|
UTSW |
6 |
138,056,762 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4159:Slc15a5
|
UTSW |
6 |
138,049,938 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4415:Slc15a5
|
UTSW |
6 |
138,056,754 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4703:Slc15a5
|
UTSW |
6 |
138,032,643 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4951:Slc15a5
|
UTSW |
6 |
138,050,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4996:Slc15a5
|
UTSW |
6 |
138,020,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5268:Slc15a5
|
UTSW |
6 |
138,056,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5310:Slc15a5
|
UTSW |
6 |
138,050,034 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5321:Slc15a5
|
UTSW |
6 |
137,964,436 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5963:Slc15a5
|
UTSW |
6 |
138,056,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5988:Slc15a5
|
UTSW |
6 |
138,020,529 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7400:Slc15a5
|
UTSW |
6 |
138,050,055 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7515:Slc15a5
|
UTSW |
6 |
138,020,496 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7604:Slc15a5
|
UTSW |
6 |
138,056,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7707:Slc15a5
|
UTSW |
6 |
138,056,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8344:Slc15a5
|
UTSW |
6 |
138,056,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8410:Slc15a5
|
UTSW |
6 |
137,989,153 (GRCm39) |
missense |
|
|
|
R9020:Slc15a5
|
UTSW |
6 |
138,032,704 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9157:Slc15a5
|
UTSW |
6 |
137,961,456 (GRCm39) |
missense |
|
|
|
R9222:Slc15a5
|
UTSW |
6 |
137,961,450 (GRCm39) |
missense |
|
|
|
R9526:Slc15a5
|
UTSW |
6 |
138,049,954 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9618:Slc15a5
|
UTSW |
6 |
138,032,779 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Z1188:Slc15a5
|
UTSW |
6 |
137,994,956 (GRCm39) |
missense |
|
|
|
| Posted On |
2015-08-05 |
Incidental Mutation