Incidental Mutation 'R0825:Slc15a5'
| ID |
78179 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc15a5
|
| Ensembl Gene |
ENSMUSG00000044378 |
| Gene Name |
solute carrier family 15, member 5 |
| Synonyms |
9830102E05Rik |
| MMRRC Submission |
039005-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R0825 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
137960584-138056914 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 137995087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 386
(C386Y)
|
| 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 |
unknown
Transcript: ENSMUST00000111873
AA Change: C78Y
|
| SMART Domains |
Protein: ENSMUSP00000107504
Gene: ENSMUSG00000044378
AA Change: C78Y
| 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 |
unknown
Transcript: ENSMUST00000150278
AA Change: C8Y
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171804
AA Change: C386Y
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000129239
Gene: ENSMUSG00000044378
AA Change: C386Y
| 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: 99.3%
- 3x: 98.5%
- 10x: 96.4%
- 20x: 91.4%
|
| Validation Efficiency |
98% (46/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,619,551 (GRCm39) |
I963N |
probably damaging |
Het |
| Aox4 |
A |
G |
1: 58,288,068 (GRCm39) |
D727G |
possibly damaging |
Het |
| Arhgef26 |
T |
A |
3: 62,334,014 (GRCm39) |
I590N |
probably damaging |
Het |
| Arid1b |
T |
G |
17: 5,392,453 (GRCm39) |
C1994W |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,777,825 (GRCm39) |
I2628T |
probably benign |
Het |
| Clspn |
G |
A |
4: 126,466,923 (GRCm39) |
|
probably benign |
Het |
| Cyp2a4 |
A |
T |
7: 26,012,341 (GRCm39) |
T375S |
probably benign |
Het |
| Dmtf1 |
A |
T |
5: 9,180,388 (GRCm39) |
M226K |
probably damaging |
Het |
| Erap1 |
T |
C |
13: 74,822,733 (GRCm39) |
|
probably benign |
Het |
| Frmpd1 |
A |
G |
4: 45,285,394 (GRCm39) |
D1405G |
possibly damaging |
Het |
| Gfm2 |
A |
T |
13: 97,279,612 (GRCm39) |
|
probably benign |
Het |
| Ghsr |
T |
C |
3: 27,428,776 (GRCm39) |
V267A |
probably damaging |
Het |
| Golga2 |
A |
C |
2: 32,194,803 (GRCm39) |
Q650P |
probably damaging |
Het |
| Hmgcl |
A |
G |
4: 135,687,381 (GRCm39) |
T219A |
probably benign |
Het |
| Ift27 |
C |
A |
15: 78,049,336 (GRCm39) |
|
probably benign |
Het |
| Igfn1 |
C |
T |
1: 135,890,864 (GRCm39) |
E2379K |
probably damaging |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Kpnb1 |
A |
T |
11: 97,062,501 (GRCm39) |
S421R |
probably damaging |
Het |
| Minar1 |
G |
A |
9: 89,485,332 (GRCm39) |
Q22* |
probably null |
Het |
| Mtx3 |
C |
A |
13: 92,986,849 (GRCm39) |
T264K |
probably damaging |
Het |
| Nrg3 |
G |
A |
14: 39,194,348 (GRCm39) |
P137L |
possibly damaging |
Het |
| Nt5c2 |
A |
G |
19: 46,887,344 (GRCm39) |
|
probably benign |
Het |
| Or2y1e |
T |
A |
11: 49,218,509 (GRCm39) |
H90Q |
probably benign |
Het |
| Or5ac17 |
G |
T |
16: 59,036,813 (GRCm39) |
H54Q |
possibly damaging |
Het |
| Pcdhb2 |
G |
A |
18: 37,428,710 (GRCm39) |
V228I |
possibly damaging |
Het |
| Pdcd5 |
G |
A |
7: 35,346,338 (GRCm39) |
R91W |
possibly damaging |
Het |
| Pxdn |
G |
A |
12: 30,034,995 (GRCm39) |
|
probably benign |
Het |
| Rgl2 |
T |
A |
17: 34,154,133 (GRCm39) |
|
probably null |
Het |
| Rnf217 |
T |
C |
10: 31,393,453 (GRCm39) |
D376G |
probably damaging |
Het |
| Septin9 |
C |
T |
11: 117,250,286 (GRCm39) |
L519F |
probably damaging |
Het |
| Srrm4 |
T |
A |
5: 116,591,772 (GRCm39) |
I256F |
unknown |
Het |
| Stab1 |
G |
T |
14: 30,874,557 (GRCm39) |
D950E |
probably benign |
Het |
| Stim2 |
A |
G |
5: 54,275,825 (GRCm39) |
T667A |
probably benign |
Het |
| Strbp |
A |
T |
2: 37,525,539 (GRCm39) |
N144K |
probably benign |
Het |
| Sync |
A |
G |
4: 129,187,190 (GRCm39) |
Y74C |
probably benign |
Het |
| Terb1 |
A |
T |
8: 105,195,380 (GRCm39) |
M587K |
possibly damaging |
Het |
| Tgfbi |
T |
C |
13: 56,786,523 (GRCm39) |
|
probably benign |
Het |
| Tmf1 |
A |
T |
6: 97,152,956 (GRCm39) |
N372K |
probably benign |
Het |
| Ubr4 |
G |
T |
4: 139,206,887 (GRCm39) |
|
probably null |
Het |
| Uggt1 |
A |
T |
1: 36,197,224 (GRCm39) |
N1226K |
probably benign |
Het |
| Ugt2b34 |
T |
C |
5: 87,054,560 (GRCm39) |
I74V |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,017,917 (GRCm39) |
L2541P |
probably damaging |
Het |
| Zfhx3 |
T |
G |
8: 109,675,840 (GRCm39) |
F2297V |
probably damaging |
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 |
|
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGACTTCAGATACTCCAAGCAGCAC -3'
(R):5'- GCCAGCATGGGATACAGTACGAAAC -3'
Sequencing Primer
(F):5'- GCAGCACATACTGTGGAAC -3'
(R):5'- aataGTGGGAAGTTACTTTTAACTCG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation