Incidental Mutation 'R4159:Slc15a5'
| ID |
315657 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc15a5
|
| Ensembl Gene |
ENSMUSG00000044378 |
| Gene Name |
solute carrier family 15, member 5 |
| Synonyms |
9830102E05Rik |
| MMRRC Submission |
041002-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R4159 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
137960584-138056914 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 138049938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 159
(T159K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[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 |
possibly damaging
Transcript: ENSMUST00000171804
AA Change: T159K
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000129239
Gene: ENSMUSG00000044378
AA Change: T159K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTR2
|
101 |
485 |
4.3e-23 |
PFAM |
|
low complexity region
|
536 |
543 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
96% (45/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
T |
G |
12: 81,466,806 (GRCm39) |
D605A |
probably damaging |
Het |
| Adcy1 |
A |
G |
11: 7,013,889 (GRCm39) |
H97R |
probably damaging |
Het |
| Amdhd1 |
A |
G |
10: 93,370,512 (GRCm39) |
Y109H |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,722,593 (GRCm39) |
N372S |
possibly damaging |
Het |
| Aoc2 |
G |
A |
11: 101,216,122 (GRCm39) |
M68I |
probably damaging |
Het |
| Aspscr1 |
G |
A |
11: 120,599,502 (GRCm39) |
A377T |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 36,985,232 (GRCm39) |
M854K |
probably benign |
Het |
| Bltp3a |
A |
G |
17: 28,103,061 (GRCm39) |
Y365C |
probably damaging |
Het |
| Cacnb1 |
G |
C |
11: 97,903,100 (GRCm39) |
C154W |
probably damaging |
Het |
| Ccdc186 |
G |
A |
19: 56,781,924 (GRCm39) |
R27* |
probably null |
Het |
| Clnk |
C |
A |
5: 38,899,138 (GRCm39) |
|
probably benign |
Het |
| Dse |
A |
G |
10: 34,029,330 (GRCm39) |
F587L |
probably damaging |
Het |
| Fut8 |
T |
C |
12: 77,440,523 (GRCm39) |
L170P |
probably damaging |
Het |
| G3bp2 |
T |
C |
5: 92,212,260 (GRCm39) |
H217R |
probably benign |
Het |
| Gm19345 |
G |
A |
7: 19,588,886 (GRCm39) |
|
probably benign |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Kcne4 |
A |
G |
1: 78,795,819 (GRCm39) |
N156D |
probably benign |
Het |
| Met |
G |
T |
6: 17,562,271 (GRCm39) |
|
probably null |
Het |
| Mfsd3 |
T |
C |
15: 76,585,945 (GRCm39) |
L26P |
probably damaging |
Het |
| Oasl1 |
A |
G |
5: 115,075,073 (GRCm39) |
K378E |
possibly damaging |
Het |
| Pde8a |
A |
G |
7: 80,970,407 (GRCm39) |
I510V |
probably benign |
Het |
| Pds5a |
T |
C |
5: 65,821,839 (GRCm39) |
T120A |
possibly damaging |
Het |
| Phf8-ps |
G |
A |
17: 33,285,023 (GRCm39) |
T593I |
probably benign |
Het |
| Phkb |
T |
A |
8: 86,748,162 (GRCm39) |
|
probably null |
Het |
| Ptprz1 |
A |
T |
6: 23,001,683 (GRCm39) |
K1258* |
probably null |
Het |
| Senp7 |
C |
A |
16: 55,973,832 (GRCm39) |
P351Q |
possibly damaging |
Het |
| Slc39a6 |
A |
G |
18: 24,730,885 (GRCm39) |
V362A |
possibly damaging |
Het |
| Spef2 |
A |
T |
15: 9,676,407 (GRCm39) |
D721E |
probably damaging |
Het |
| Sting1 |
A |
T |
18: 35,872,272 (GRCm39) |
Y77N |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,930,491 (GRCm39) |
T2059A |
probably damaging |
Het |
| Ttll8 |
T |
C |
15: 88,801,444 (GRCm39) |
N415D |
probably benign |
Het |
| Ube2d2a |
A |
T |
18: 35,903,577 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
A |
G |
12: 103,036,512 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,460,907 (GRCm39) |
V2723M |
probably damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,898,088 (GRCm39) |
C368S |
probably damaging |
Het |
| Vmn2r3 |
G |
A |
3: 64,194,850 (GRCm39) |
Q23* |
probably null |
Het |
|
| Other mutations in Slc15a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00546:Slc15a5
|
APN |
6 |
138,020,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACTGACCCATCATCACAGATGTC -3'
(R):5'- GTCTACATCTGTGCTGCAAGC -3'
Sequencing Primer
(F):5'- GATGTCACCACACTGCCACTG -3'
(R):5'- GCTGCAAGCAGTCTCCTTTTC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation