Incidental Mutation 'R5321:Slc15a5'
ID |
406108 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc15a5
|
Ensembl Gene |
ENSMUSG00000044378 |
Gene Name |
solute carrier family 15, member 5 |
Synonyms |
9830102E05Rik |
MMRRC Submission |
042904-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R5321 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
137960584-138056914 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 137964436 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 496
(N496K)
|
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: N188K
|
SMART Domains |
Protein: ENSMUSP00000107504 Gene: ENSMUSG00000044378 AA Change: N188K
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: ENSMUST00000171804
AA Change: N496K
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000129239 Gene: ENSMUSG00000044378 AA Change: N496K
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 |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
A |
G |
11: 110,218,651 (GRCm39) |
F72L |
probably benign |
Het |
Btrc |
G |
A |
19: 45,496,197 (GRCm39) |
V211M |
probably damaging |
Het |
Col6a5 |
A |
T |
9: 105,805,664 (GRCm39) |
Y1081N |
unknown |
Het |
Cryzl1 |
T |
C |
16: 91,504,118 (GRCm39) |
Y109C |
probably benign |
Het |
Dlec1 |
T |
A |
9: 118,941,669 (GRCm39) |
S352T |
probably benign |
Het |
Dzip3 |
T |
G |
16: 48,778,038 (GRCm39) |
T349P |
possibly damaging |
Het |
Endou |
A |
G |
15: 97,618,913 (GRCm39) |
V37A |
probably damaging |
Het |
Exosc1 |
A |
T |
19: 41,912,499 (GRCm39) |
C129* |
probably null |
Het |
Flywch1 |
C |
G |
17: 23,975,625 (GRCm39) |
R539P |
probably damaging |
Het |
Gm14410 |
G |
A |
2: 176,885,298 (GRCm39) |
T322I |
probably damaging |
Het |
Lcor |
G |
T |
19: 41,573,643 (GRCm39) |
W799C |
probably damaging |
Het |
Lpin2 |
G |
A |
17: 71,553,853 (GRCm39) |
V857M |
probably damaging |
Het |
Or52ae9 |
T |
C |
7: 103,389,862 (GRCm39) |
N195S |
probably damaging |
Het |
Patl1 |
A |
G |
19: 11,898,785 (GRCm39) |
Q160R |
probably damaging |
Het |
Phtf1 |
C |
T |
3: 103,910,827 (GRCm39) |
T606I |
probably benign |
Het |
Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
Scrt1 |
T |
C |
15: 76,403,370 (GRCm39) |
S207G |
unknown |
Het |
Slc34a1 |
A |
T |
13: 23,996,614 (GRCm39) |
I40F |
possibly damaging |
Het |
Tdrd12 |
A |
C |
7: 35,177,519 (GRCm39) |
V945G |
probably damaging |
Het |
Tdrkh |
C |
A |
3: 94,332,965 (GRCm39) |
L169I |
probably damaging |
Het |
Tmem59l |
A |
G |
8: 70,939,865 (GRCm39) |
C35R |
probably damaging |
Het |
Tpte |
A |
T |
8: 22,787,219 (GRCm39) |
R33* |
probably null |
Het |
Trpv2 |
T |
A |
11: 62,475,397 (GRCm39) |
L270H |
probably damaging |
Het |
Utp18 |
A |
G |
11: 93,757,260 (GRCm39) |
L468P |
probably damaging |
Het |
Uxs1 |
A |
G |
1: 43,844,805 (GRCm39) |
I51T |
probably damaging |
Het |
Vmn1r20 |
C |
T |
6: 57,409,427 (GRCm39) |
S251L |
probably benign |
Het |
Vmn1r24 |
A |
T |
6: 57,933,182 (GRCm39) |
L112* |
probably null |
Het |
Vmn1r5 |
T |
C |
6: 56,962,592 (GRCm39) |
L89P |
probably damaging |
Het |
Vmn2r10 |
G |
T |
5: 109,143,505 (GRCm39) |
A815E |
probably damaging |
Het |
Zfp119a |
A |
T |
17: 56,172,595 (GRCm39) |
L416H |
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 |
|
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 |
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'- GCACTCATTTGGTGTGAGAATAGG -3'
(R):5'- TGAGCTTCCTCACACTGGTAAC -3'
Sequencing Primer
(F):5'- CCATTACATTTCTGCAGGATGCTAG -3'
(R):5'- CATTACCAAGGTGCACAATGTTC -3'
|
Posted On |
2016-07-22 |