Incidental Mutation 'R4415:Slc15a5'
| ID |
326790 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4415 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
137960584-138056914 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 138056754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 54
(V54A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171804]
|
| AlphaFold |
Q8CBB2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171804
AA Change: V54A
PolyPhen 2
Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000129239
Gene: ENSMUSG00000044378
AA Change: V54A
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
A |
T |
11: 105,895,947 (GRCm39) |
D631V |
probably benign |
Het |
| Adam17 |
T |
C |
12: 21,395,702 (GRCm39) |
I274V |
possibly damaging |
Het |
| Aebp1 |
A |
G |
11: 5,815,451 (GRCm39) |
D303G |
probably damaging |
Het |
| B020004C17Rik |
T |
C |
14: 57,254,874 (GRCm39) |
*233R |
probably null |
Het |
| Bcl9l |
C |
T |
9: 44,413,176 (GRCm39) |
P127S |
possibly damaging |
Het |
| Bdp1 |
T |
C |
13: 100,167,369 (GRCm39) |
D2215G |
probably damaging |
Het |
| Caly |
T |
C |
7: 139,652,593 (GRCm39) |
T52A |
probably damaging |
Het |
| Ccdc125 |
T |
C |
13: 100,832,817 (GRCm39) |
S465P |
possibly damaging |
Het |
| Cdc23 |
ACC |
AC |
18: 34,770,371 (GRCm39) |
|
probably null |
Het |
| Colq |
T |
C |
14: 31,257,645 (GRCm39) |
K231E |
probably damaging |
Het |
| Fam32a |
T |
A |
8: 72,975,785 (GRCm39) |
I77N |
probably damaging |
Het |
| Impdh1 |
C |
T |
6: 29,209,221 (GRCm39) |
V49M |
probably damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,536,417 (GRCm39) |
I1055T |
probably damaging |
Het |
| Lad1 |
A |
G |
1: 135,756,484 (GRCm39) |
D364G |
probably benign |
Het |
| Lama2 |
G |
T |
10: 26,865,340 (GRCm39) |
Y947* |
probably null |
Het |
| Myo5b |
T |
A |
18: 74,713,479 (GRCm39) |
I108N |
probably damaging |
Het |
| Nvl |
T |
C |
1: 180,932,679 (GRCm39) |
T713A |
probably benign |
Het |
| Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
| Or6c70 |
T |
C |
10: 129,709,826 (GRCm39) |
T267A |
probably benign |
Het |
| Pappa |
A |
G |
4: 65,223,532 (GRCm39) |
T1236A |
probably benign |
Het |
| Pip4p2 |
C |
T |
4: 14,912,463 (GRCm39) |
R191C |
probably damaging |
Het |
| Rcl1 |
G |
A |
19: 29,095,762 (GRCm39) |
V116I |
probably benign |
Het |
| Rdh14 |
G |
A |
12: 10,441,231 (GRCm39) |
|
probably null |
Het |
| Rfx2 |
T |
A |
17: 57,094,733 (GRCm39) |
T204S |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Ripor1 |
T |
C |
8: 106,344,608 (GRCm39) |
S581P |
probably benign |
Het |
| Rnf213 |
T |
A |
11: 119,374,790 (GRCm39) |
V5084E |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,357,037 (GRCm39) |
V1077E |
probably damaging |
Het |
| Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
| Snx19 |
T |
A |
9: 30,348,779 (GRCm39) |
L804Q |
probably damaging |
Het |
| Spata31e5 |
T |
A |
1: 28,816,214 (GRCm39) |
Q606L |
probably benign |
Het |
| Specc1l |
C |
A |
10: 75,082,162 (GRCm39) |
N519K |
possibly damaging |
Het |
| Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
| Stambp |
A |
T |
6: 83,534,464 (GRCm39) |
N274K |
probably damaging |
Het |
| Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
| Tacc3 |
T |
G |
5: 33,824,028 (GRCm39) |
|
probably null |
Het |
| Tubb1 |
G |
A |
2: 174,299,466 (GRCm39) |
E383K |
probably benign |
Het |
| Ube3b |
A |
T |
5: 114,550,505 (GRCm39) |
D844V |
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 |
|
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'- GGGACACTCACCTAGGAAATGTAG -3'
(R):5'- GTGAAATTCTAAGCAGCCGTC -3'
Sequencing Primer
(F):5'- GAGATAAGGCTATGTACATCAGTTTG -3'
(R):5'- TGATAGTCTAGGAAAAGCAGTCATG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation